id	name	category	provided_by	xrefs	description	iri	subsets	synonym
OBO:HP_0000001	All	biolink:OntologyClass	hp	UMLS:C0444868		http://purl.obolibrary.org/obo/HP_0000001		
OBO:HP_0000002	Abnormality of body height	biolink:OntologyClass	hp	UMLS:C4025901	Deviation from the norm of height with respect to that which is expected according to age and gender norms.	http://purl.obolibrary.org/obo/HP_0000002		Abnormality of body height
OBO:HP_0000003	Multicystic kidney dysplasia	biolink:OntologyClass	hp	MSH:D021782|SNOMEDCT_US:204962002|SNOMEDCT_US:82525005|UMLS:C3714581	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.	http://purl.obolibrary.org/obo/HP_0000003		Multicystic dysplastic kidney|Multicystic kidneys|Multicystic renal dysplasia
OBO:HP_0000005	Mode of inheritance	biolink:OntologyClass	hp	UMLS:C1708511	The pattern in which a particular genetic trait or disorder is passed from one generation to the next.	http://purl.obolibrary.org/obo/HP_0000005		Inheritance
OBO:HP_0000006	Autosomal dominant inheritance	biolink:OntologyClass	hp	SNOMEDCT_US:263681008|UMLS:C0443147	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.	http://purl.obolibrary.org/obo/HP_0000006		Autosomal dominant|Autosomal dominant form|Autosomal dominant type
OBO:HP_0000007	Autosomal recessive inheritance	biolink:OntologyClass	hp	SNOMEDCT_US:258211005|UMLS:C0441748|UMLS:C4020899	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).	http://purl.obolibrary.org/obo/HP_0000007		Autosomal recessive|Autosomal recessive form|Autosomal recessive predisposition
OBO:HP_0000008	Abnormal morphology of female internal genitalia	biolink:OntologyClass	hp	UMLS:C4025900	An abnormality of the female internal genitalia.	http://purl.obolibrary.org/obo/HP_0000008		Abnormality of female internal genitalia
OBO:HP_0000009	Functional abnormality of the bladder	biolink:OntologyClass	hp	UMLS:C3806583	Dysfunction of the urinary bladder.	http://purl.obolibrary.org/obo/HP_0000009		Poor bladder function
OBO:HP_0000010	Recurrent urinary tract infections	biolink:OntologyClass	hp	SNOMEDCT_US:197927001|UMLS:C0262655	Repeated infections of the urinary tract.	http://purl.obolibrary.org/obo/HP_0000010		Recurrent UTIs|Frequent urinary tract infections|Repeated bladder infections|Repeated urinary tract infections|Urinary tract infections|Urinary tract infections, recurrent
OBO:HP_0000011	Neurogenic bladder	biolink:OntologyClass	hp	MSH:D001750|SNOMEDCT_US:397732007|SNOMEDCT_US:398064005|UMLS:C0005697	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.	http://purl.obolibrary.org/obo/HP_0000011		Lack of bladder control due to nervous system injury
OBO:HP_0000012	Urinary urgency	biolink:OntologyClass	hp	SNOMEDCT_US:75088002|UMLS:C0085606|UMLS:C3544092|UMLS:C4020898	Urge incontinence is the strong, sudden need to urinate.	http://purl.obolibrary.org/obo/HP_0000012		Overactive bladder|Urinary urgency|Overactive bladder syndrome|Urgency frequency syndrome
OBO:HP_0000013	Hypoplasia of the uterus	biolink:OntologyClass	hp	SNOMEDCT_US:35850006|UMLS:C0266399	Underdevelopment of the uterus.	http://purl.obolibrary.org/obo/HP_0000013		Small uterus|Underdeveloped uterus|Hypoplastic uterus|Rudimentary uterus
OBO:HP_0000014	Abnormality of the bladder	biolink:OntologyClass	hp	UMLS:C0149632	An abnormality of the urinary bladder.	http://purl.obolibrary.org/obo/HP_0000014		
OBO:HP_0000015	Bladder diverticulum	biolink:OntologyClass	hp	MSH:C562406|SNOMEDCT_US:197866008|UMLS:C0156273	Diverticulum (sac or pouch) in the wall of the urinary bladder.	http://purl.obolibrary.org/obo/HP_0000015		Bladder diverticula
OBO:HP_0000016	Urinary retention	biolink:OntologyClass	hp	MSH:D016055|SNOMEDCT_US:130951007|SNOMEDCT_US:267064002|SNOMEDCT_US:449491000124101|UMLS:C0080274	Inability to completely empty the urinary bladder during the process of urination.	http://purl.obolibrary.org/obo/HP_0000016		Increased post-void residual urine volume
OBO:HP_0000017	Nocturia	biolink:OntologyClass	hp	MSH:D053158|SNOMEDCT_US:139394000|UMLS:C0028734	Abnormally increased production of urine during the night leading to an unusually frequent need to urinate.	http://purl.obolibrary.org/obo/HP_0000017		Nycturia
OBO:HP_0000019	Urinary hesitancy	biolink:OntologyClass	hp	SNOMEDCT_US:5972002|UMLS:C0152032	Difficulty in beginning the process of urination.	http://purl.obolibrary.org/obo/HP_0000019		Difficulty with flow
OBO:HP_0000020	Urinary incontinence	biolink:OntologyClass	hp	MSH:D014549|SNOMEDCT_US:165232002|UMLS:C0042024	Loss of the ability to control the urinary bladder leading to involuntary urination.	http://purl.obolibrary.org/obo/HP_0000020		Loss of bladder control|Bladder incontinence
OBO:HP_0000021	Megacystis	biolink:OntologyClass	hp	MSH:C536139|UMLS:C1855311	Dilatation of the bladder postnatally.	http://purl.obolibrary.org/obo/HP_0000021		
OBO:HP_0000022	Abnormality of male internal genitalia	biolink:OntologyClass	hp	UMLS:C4025899	An abnormality of the male internal genitalia.	http://purl.obolibrary.org/obo/HP_0000022		
OBO:HP_0000023	Inguinal hernia	biolink:OntologyClass	hp	MEDDRA:10022016|MSH:D006552|SNOMEDCT_US:396232000|UMLS:C0019294	Protrusion of the contents of the abdominal cavity through the inguinal canal.	http://purl.obolibrary.org/obo/HP_0000023	hposlim_core	
OBO:HP_0000024	Prostatitis	biolink:OntologyClass	hp	MSH:D011472|SNOMEDCT_US:9713002|UMLS:C0033581	The presence of inflammation of the prostate.	http://purl.obolibrary.org/obo/HP_0000024		Inflammation of the prostate
OBO:HP_0000025	Functional abnormality of male internal genitalia	biolink:OntologyClass	hp	UMLS:C4025898		http://purl.obolibrary.org/obo/HP_0000025		
OBO:HP_0000026	Male hypogonadism	biolink:OntologyClass	hp	MSH:D005058|SNOMEDCT_US:48723006|UMLS:C0151721	Decreased functionality of the male gonad, i.e., of the testis, with reduced spermatogenesis or testosterone synthesis.	http://purl.obolibrary.org/obo/HP_0000026		Decreased function of male gonad
OBO:HP_0000027	Azoospermia	biolink:OntologyClass	hp	MSH:D053713|SNOMEDCT_US:425558002|SNOMEDCT_US:48188009|UMLS:C0004509	Absence of any measurable level of sperm in his semen.	http://purl.obolibrary.org/obo/HP_0000027		Absent sperm in semen
OBO:HP_0000028	Cryptorchidism	biolink:OntologyClass	hp	Fyler:4493|MSH:D003456|SNOMEDCT_US:204878001|UMLS:C0010417	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.	http://purl.obolibrary.org/obo/HP_0000028		Undescended testes|Undescended testis|Cryptorchism
OBO:HP_0000029	Testicular atrophy	biolink:OntologyClass	hp	SNOMEDCT_US:17585008|UMLS:C0156312	Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility.	http://purl.obolibrary.org/obo/HP_0000029		Testicular degeneration
OBO:HP_0000030	Testicular gonadoblastoma	biolink:OntologyClass	hp	NCIT:C3754|UMLS:C1515283	The presence of a gonadoblastoma of the testis.	http://purl.obolibrary.org/obo/HP_0000030		Gonadoblastoma, male
OBO:HP_0000031	Epididymitis	biolink:OntologyClass	hp	MSH:D004823|SNOMEDCT_US:31070006|UMLS:C0014534	The presence of inflammation of the epididymis.	http://purl.obolibrary.org/obo/HP_0000031		
OBO:HP_0000032	Abnormality of male external genitalia	biolink:OntologyClass	hp	UMLS:C4025897	An abnormality of male external genitalia.	http://purl.obolibrary.org/obo/HP_0000032		
OBO:HP_0000033	Ambiguous genitalia, male	biolink:OntologyClass	hp	UMLS:C4021823	Ambiguous genitalia in an individual with XY genetic gender.	http://purl.obolibrary.org/obo/HP_0000033		Ambiguous genitalia in males
OBO:HP_0000034	Hydrocele testis	biolink:OntologyClass	hp	MSH:D006848|SNOMEDCT_US:26614003|SNOMEDCT_US:386152007|SNOMEDCT_US:55434001|UMLS:C1720771	Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis.	http://purl.obolibrary.org/obo/HP_0000034		Hydrocele|Testicular hydrocele
OBO:HP_0000035	Abnormal testis morphology	biolink:OntologyClass	hp	SNOMEDCT_US:55631001|UMLS:C0266423	An anomaly of the testicle (the male gonad).	http://purl.obolibrary.org/obo/HP_0000035		Abnormality of the testis|Anomaly of the testes
OBO:HP_0000036	Abnormal penis morphology	biolink:OntologyClass	hp	UMLS:C4025896	Abnormality of the male external sex organ.	http://purl.obolibrary.org/obo/HP_0000036		Abnormality of the penis
OBO:HP_0000037	Male pseudohermaphroditism	biolink:OntologyClass	hp	MSH:D058490|SNOMEDCT_US:111332007|UMLS:C0238395	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.	http://purl.obolibrary.org/obo/HP_0000037		
OBO:HP_0000039	Epispadias	biolink:OntologyClass	hp	SNOMEDCT_US:406477003|UMLS:C0563449	Displacement of the urethral opening on the dorsal (superior) surface of the penis.	http://purl.obolibrary.org/obo/HP_0000039		
OBO:HP_0000040	Long penis	biolink:OntologyClass	hp	SNOMEDCT_US:88673001|UMLS:C0269011	Penile length more than 2 SD above the mean for age.	http://purl.obolibrary.org/obo/HP_0000040		Enlarged penis|Long penis
OBO:HP_0000041	Chordee	biolink:OntologyClass	hp	SNOMEDCT_US:4287008|UMLS:C0221182	Ventral, lateral, or ventrolateral bowing of the shaft and glans penis of more than 30 degrees.	http://purl.obolibrary.org/obo/HP_0000041		
OBO:HP_0000042	Absent external genitalia	biolink:OntologyClass	hp	UMLS:C1848869	Lack of external genitalia in a male or female individual.	http://purl.obolibrary.org/obo/HP_0000042		Absent external genitalia
OBO:HP_0000044	Hypogonadotropic hypogonadism	biolink:OntologyClass	hp	MSH:D007006|SNOMEDCT_US:33927004|UMLS:C0271623|UMLS:C3489396	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).	http://purl.obolibrary.org/obo/HP_0000044		Hypogonadotrophic hypogonadism|Low gonadotropins (secondary hypogonadism)|Isolated hypogonadotropic hypogonadism
OBO:HP_0000045	Abnormality of the scrotum	biolink:OntologyClass	hp	UMLS:C4025895		http://purl.obolibrary.org/obo/HP_0000045		
OBO:HP_0000046	Scrotal hypoplasia	biolink:OntologyClass	hp	SNOMEDCT_US:204912007|UMLS:C0431659		http://purl.obolibrary.org/obo/HP_0000046		Smaller than typical growth of scrotum|Hypoplastic scrotum
OBO:HP_0000047	Hypospadias	biolink:OntologyClass	hp	Fyler:4504|SNOMEDCT_US:204888000|UMLS:C1691215	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.	http://purl.obolibrary.org/obo/HP_0000047		Hypospadia
OBO:HP_0000048	Bifid scrotum	biolink:OntologyClass	hp	SNOMEDCT_US:236780002|UMLS:C0341787	Midline indentation or cleft of the scrotum.	http://purl.obolibrary.org/obo/HP_0000048		Cleft of scrotum|Scrotal cleft
OBO:HP_0000049	Shawl scrotum	biolink:OntologyClass	hp	UMLS:C1858539	Superior margin of the scrotum superior to the base of the penis.	http://purl.obolibrary.org/obo/HP_0000049		Scrotum surrounds penis|Overriding scrotum
OBO:HP_0000050	Hypoplastic male external genitalia	biolink:OntologyClass	hp	UMLS:C1852534	Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra).	http://purl.obolibrary.org/obo/HP_0000050		Small male external genitalia|Underdeveloped male genitalia|Hypoplastic male genitalia
OBO:HP_0000051	Perineal hypospadias	biolink:OntologyClass	hp	SNOMEDCT_US:204890004|UMLS:C0452148	Hypospadias with location of the urethral meatus in the perineal region.	http://purl.obolibrary.org/obo/HP_0000051		
OBO:HP_0000052	Urethral atresia, male	biolink:OntologyClass	hp	UMLS:C4025894	Congenital anomaly characterized by closure or failure to develop an opening in the urethra in males.	http://purl.obolibrary.org/obo/HP_0000052		
OBO:HP_0000053	Macroorchidism	biolink:OntologyClass	hp	UMLS:C1263023	The presence of abnormally large testes.	http://purl.obolibrary.org/obo/HP_0000053		Large testis|Large testicles
OBO:HP_0000054	Micropenis	biolink:OntologyClass	hp	SNOMEDCT_US:34911001|UMLS:C4551492	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.	http://purl.obolibrary.org/obo/HP_0000054		Short penis|Small penis
OBO:HP_0000055	Abnormality of female external genitalia	biolink:OntologyClass	hp	UMLS:C4021822	An abnormality of the female external genitalia.	http://purl.obolibrary.org/obo/HP_0000055		Abnormal female external genitalia
OBO:HP_0000056	Abnormality of the clitoris	biolink:OntologyClass	hp	UMLS:C4025893	An abnormality of the clitoris.	http://purl.obolibrary.org/obo/HP_0000056		Abnormality of the clit
OBO:HP_0000057	obsolete Clitoromegaly	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0000057		
OBO:HP_0000058	Abnormal labia morphology	biolink:OntologyClass	hp	UMLS:C4025892	An anomaly of the labia, the externally visible portions of the vulva.	http://purl.obolibrary.org/obo/HP_0000058		Abnormality of the labia
OBO:HP_0000059	Hypoplastic labia majora	biolink:OntologyClass	hp	SNOMEDCT_US:289469003|UMLS:C0566899	Undergrowth of the outer labia.	http://purl.obolibrary.org/obo/HP_0000059		Small labia majora|Underdeveloped vaginal lips|Hypoplasia of labia majora
OBO:HP_0000060	Clitoral hypoplasia	biolink:OntologyClass	hp	UMLS:C1844527	Developmental hypoplasia of the clitoris.	http://purl.obolibrary.org/obo/HP_0000060		Small clitoris|Underdeveloped clit|Hypoplastic clitoris
OBO:HP_0000061	Ambiguous genitalia, female	biolink:OntologyClass	hp	UMLS:C1859980|UMLS:C4025891	Ambiguous genitalia in an individual with XX genetic gender.	http://purl.obolibrary.org/obo/HP_0000061		Atypical appearance of female genitals|Ambiguous genitalia due to virilization
OBO:HP_0000062	Ambiguous genitalia	biolink:OntologyClass	hp	MSH:D012734|SNOMEDCT_US:21321009|UMLS:C0266362	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.	http://purl.obolibrary.org/obo/HP_0000062		Ambiguous external genitalia|Ambiguous external genitalia at birth|Intersex genitalia
OBO:HP_0000063	Fused labia minora	biolink:OntologyClass	hp	UMLS:C1837532	Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction.	http://purl.obolibrary.org/obo/HP_0000063		Fused inner lips
OBO:HP_0000064	Hypoplastic labia minora	biolink:OntologyClass	hp	UMLS:C1849295		http://purl.obolibrary.org/obo/HP_0000064		Underdeveloped inner lips
OBO:HP_0000065	Labial hypertrophy	biolink:OntologyClass	hp	SNOMEDCT_US:16924008|UMLS:C0404531		http://purl.obolibrary.org/obo/HP_0000065		Enlargement of the labia|Enlargement of the vaginal lips|Enlarged vaginal lips
OBO:HP_0000066	Labial hypoplasia	biolink:OntologyClass	hp	UMLS:C1850325		http://purl.obolibrary.org/obo/HP_0000066		Underdeveloped labia|Hypoplastic labia
OBO:HP_0000067	Urethral atresia, female	biolink:OntologyClass	hp	UMLS:C4025890	Congenital anomaly characterized by closure or failure to develop an opening in the urethra in females.	http://purl.obolibrary.org/obo/HP_0000067		
OBO:HP_0000068	Urethral atresia	biolink:OntologyClass	hp	UMLS:C1610065	Congenital anomaly characterized by closure or failure to develop an opening in the urethra.	http://purl.obolibrary.org/obo/HP_0000068		Absent urethral opening|Urethral opening absent
OBO:HP_0000069	Abnormality of the ureter	biolink:OntologyClass	hp	UMLS:C1840382	An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.	http://purl.obolibrary.org/obo/HP_0000069		Abnormality of the ureters|Ureter issue|Ureteral anomalies
OBO:HP_0000070	Ureterocele	biolink:OntologyClass	hp	MSH:D014518|SNOMEDCT_US:12818004|UMLS:C0041960	A ureterocele is a congenital saccular dilatation of the distal segment of the ureter.	http://purl.obolibrary.org/obo/HP_0000070		
OBO:HP_0000071	Ureteral stenosis	biolink:OntologyClass	hp	SNOMEDCT_US:95574003|UMLS:C0521618	The presence of a stenotic, i.e., constricted ureter.	http://purl.obolibrary.org/obo/HP_0000071		Narrowing of the ureter
OBO:HP_0000072	Hydroureter	biolink:OntologyClass	hp	SNOMEDCT_US:69758005|SNOMEDCT_US:95576001|UMLS:C0521620|UMLS:C4020897	The distention of the ureter with urine.	http://purl.obolibrary.org/obo/HP_0000072		Megaureter|Swelling of ureter|Ureteral dilatation|Uroureter
OBO:HP_0000073	Ureteral duplication	biolink:OntologyClass	hp	SNOMEDCT_US:49496001|UMLS:C0221365	A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder.	http://purl.obolibrary.org/obo/HP_0000073		Double ureter
OBO:HP_0000074	Ureteropelvic junction obstruction	biolink:OntologyClass	hp	MSH:C537373|SNOMEDCT_US:95575002|UMLS:C0521619	Blockage of urine flow from the renal pelvis to the proximal ureter.	http://purl.obolibrary.org/obo/HP_0000074		Pelviureteric junction obstruction|Ureteropelvic junction stenosis
OBO:HP_0000075	Renal duplication	biolink:OntologyClass	hp	SNOMEDCT_US:30275001|UMLS:C0266298	A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters.	http://purl.obolibrary.org/obo/HP_0000075		Extra kidney|Supernumerary kidney
OBO:HP_0000076	Vesicoureteral reflux	biolink:OntologyClass	hp	Fyler:4510|MSH:D014718|SNOMEDCT_US:197811007|UMLS:C0042580	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.	http://purl.obolibrary.org/obo/HP_0000076		Ureteral reflux|Ureteric reflux|Vesico-ureteral reflux|Vesicoureteric reflux
OBO:HP_0000077	Abnormality of the kidney	biolink:OntologyClass	hp	MSH:D007674|SNOMEDCT_US:44513007|SNOMEDCT_US:90708001|UMLS:C0022658|UMLS:C0266292	An abnormality of the kidney.	http://purl.obolibrary.org/obo/HP_0000077		Abnormal kidney|Abnormality of the kidney|Renal anomalies|Renal anomaly
OBO:HP_0000078	Abnormality of the genital system	biolink:OntologyClass	hp	UMLS:C0281966|UMLS:C0744356	An abnormality of the genital system.	http://purl.obolibrary.org/obo/HP_0000078		Genital abnormalities|Genital abnormality|Genital anomalies|Genital defects|Abnormality of the reproductive system
OBO:HP_0000079	Abnormality of the urinary system	biolink:OntologyClass	hp	UMLS:C4021821	An abnormality of the urinary system.	http://purl.obolibrary.org/obo/HP_0000079		Urinary tract abnormalities|Urinary tract abnormality|Urinary tract anomalies
OBO:HP_0000080	Abnormality of reproductive system physiology	biolink:OntologyClass	hp	UMLS:C4020896|UMLS:C4021820	An abnormal functionality of the genital system.	http://purl.obolibrary.org/obo/HP_0000080		Abnormality of genital physiology|Abnormality of reproductive system physiology|Genital functional abnormality
OBO:HP_0000081	Duplicated collecting system	biolink:OntologyClass	hp	UMLS:C1858565	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.	http://purl.obolibrary.org/obo/HP_0000081		Double collecting system|Double urinary collecting systems on intravenous pyelography|Duplex collecting system|Duplicated renal collecting system
OBO:HP_0000083	Renal insufficiency	biolink:OntologyClass	hp	MSH:D051437|SNOMEDCT_US:236423003|SNOMEDCT_US:42399005|UMLS:C0035078|UMLS:C1565489|UMLS:C1839604	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.	http://purl.obolibrary.org/obo/HP_0000083		Renal failure|Renal failure in adulthood
OBO:HP_0000085	Horseshoe kidney	biolink:OntologyClass	hp	Fyler:4507|MSH:D000069337|SNOMEDCT_US:41729002|UMLS:C0221353	A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline.	http://purl.obolibrary.org/obo/HP_0000085		Horseshoe kidney|Horseshoe kidneys|Fused kidneys
OBO:HP_0000086	Ectopic kidney	biolink:OntologyClass	hp	SNOMEDCT_US:16507009|UMLS:C0238207	A developmental defect in which a kidney is located in an abnormal anatomic position.	http://purl.obolibrary.org/obo/HP_0000086		Abnormal kidney location|Displaced kidney|Ectopic kidneys|Renal ectopia
OBO:HP_0000089	Renal hypoplasia	biolink:OntologyClass	hp	SNOMEDCT_US:32659003|UMLS:C0266295	Hypoplasia of the kidney.	http://purl.obolibrary.org/obo/HP_0000089		Small kidneys|Underdeveloped kidneys|Hypoplastic kidney|Hypoplastic kidneys
OBO:HP_0000090	Nephronophthisis	biolink:OntologyClass	hp	SNOMEDCT_US:204958008|UMLS:C0687120	Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis.	http://purl.obolibrary.org/obo/HP_0000090		juvenile nephronophthisis
OBO:HP_0000091	Abnormal renal tubule morphology	biolink:OntologyClass	hp	UMLS:C4021826	An abnormality of the renal tubules.	http://purl.obolibrary.org/obo/HP_0000091		Abnormality of the renal tubule|Morphologic abnormality of the renal tubules
OBO:HP_0000092	Renal tubular atrophy	biolink:OntologyClass	hp	UMLS:C1858395	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.	http://purl.obolibrary.org/obo/HP_0000092		Renal tubular cell atrophy|Tubular atrophy
OBO:HP_0000093	Proteinuria	biolink:OntologyClass	hp	MSH:D011507|SNOMEDCT_US:29738008|UMLS:C0033687	Increased levels of protein in the urine.	http://purl.obolibrary.org/obo/HP_0000093		High urine protein levels|Protein in urine
OBO:HP_0000095	Abnormal renal glomerulus morphology	biolink:OntologyClass	hp	UMLS:C4025889	A structural anomaly of the glomerulus.	http://purl.obolibrary.org/obo/HP_0000095		Abnormality of renal glomerulus morphology|Morphologic abnormality of the renal glomerulus
OBO:HP_0000096	Glomerular sclerosis	biolink:OntologyClass	hp	SNOMEDCT_US:197661001|SNOMEDCT_US:82646005|UMLS:C0178664	Accumulation of scar tissue within the glomerulus.	http://purl.obolibrary.org/obo/HP_0000096		Renal glomerular fibrosis|Glomerulosclerosis
OBO:HP_0000097	Focal segmental glomerulosclerosis	biolink:OntologyClass	hp	MSH:D005923|SNOMEDCT_US:236403004|SNOMEDCT_US:25821008|UMLS:C0017668	Segmental accumulation of scar tissue in individual (but not all) glomeruli.	http://purl.obolibrary.org/obo/HP_0000097		Focal and segmental glomerular sclerosis|Focal and segmental glomerulosclerosis|focal glomerulosclerosis
OBO:HP_0000098	Tall stature	biolink:OntologyClass	hp	SNOMEDCT_US:248328003|UMLS:C0241240	A height above that which is expected according to age and gender norms.	http://purl.obolibrary.org/obo/HP_0000098		Increased body height|Tall stature|Accelerated linear growth|Increased linear growth
OBO:HP_0000099	Glomerulonephritis	biolink:OntologyClass	hp	MSH:D005921|SNOMEDCT_US:36171008|UMLS:C0017658	Inflammation of the renal glomeruli.	http://purl.obolibrary.org/obo/HP_0000099		Glomerular nephritis
OBO:HP_0000100	Nephrotic syndrome	biolink:OntologyClass	hp	MSH:D009404|SNOMEDCT_US:52254009|UMLS:C0027726	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.	http://purl.obolibrary.org/obo/HP_0000100		Nephrosis
OBO:HP_0000103	Polyuria	biolink:OntologyClass	hp	MSH:D011141|SNOMEDCT_US:28442001|SNOMEDCT_US:56574000|SNOMEDCT_US:718402002|UMLS:C0032617	An increased rate of urine production.	http://purl.obolibrary.org/obo/HP_0000103		Increased urine output
OBO:HP_0000104	Renal agenesis	biolink:OntologyClass	hp	Fyler:4503|SNOMEDCT_US:204942005|UMLS:C0542519	Agenesis, that is, failure of the kidney to develop during embryogenesis and development.	http://purl.obolibrary.org/obo/HP_0000104		Absent kidney|Missing kidney|Renal aplasia
OBO:HP_0000105	Enlarged kidney	biolink:OntologyClass	hp	SNOMEDCT_US:300444006|UMLS:C0542518	An abnormal increase in the size of the kidney.	http://purl.obolibrary.org/obo/HP_0000105		Enlarged kidney|Large kidneys|Nephromegaly|Renal enlargement|Large kidney
OBO:HP_0000107	Renal cyst	biolink:OntologyClass	hp	MSH:D052177|UMLS:C0022679|UMLS:C3887499	A fluid filled sac in the kidney.	http://purl.obolibrary.org/obo/HP_0000107		Kidney cyst|Cystic kidney disease|Cystic kidneys|Renal cysts
OBO:HP_0000108	Renal corticomedullary cysts	biolink:OntologyClass	hp	UMLS:C1968619	The presence of multiple cysts at the border between the renal cortex and medulla.	http://purl.obolibrary.org/obo/HP_0000108		Corticomedullary renal cysts|Renal corticomedullary cystic disease
OBO:HP_0000110	Renal dysplasia	biolink:OntologyClass	hp	MSH:C563261|SNOMEDCT_US:204949001|UMLS:C1619700|UMLS:C3536714	The presence of developmental dysplasia of the kidney.	http://purl.obolibrary.org/obo/HP_0000110		Dysplastic kidneys|Renal adysplasia
OBO:HP_0000111	Renal juxtaglomerular cell hypertrophy/hyperplasia	biolink:OntologyClass	hp	UMLS:C1866496	Increased number and size of the juxtaglomerular cells.	http://purl.obolibrary.org/obo/HP_0000111		
OBO:HP_0000112	Nephropathy	biolink:OntologyClass	hp	MSH:D007674|SNOMEDCT_US:90708001|UMLS:C0022658|UMLS:C1408258	A nonspecific term referring to disease or damage of the kidneys.	http://purl.obolibrary.org/obo/HP_0000112		Kidney damage|Kidney disease
OBO:HP_0000113	Polycystic kidney dysplasia	biolink:OntologyClass	hp	Fyler:4508|MSH:D007690|SNOMEDCT_US:82525005|UMLS:C0022680|UMLS:C1567435	The presence of multiple cysts in both kidneys.	http://purl.obolibrary.org/obo/HP_0000113		Enlarged polycystic kidneys|Polycystic kidneys|Polycystic kidney disease
OBO:HP_0000114	Proximal tubulopathy	biolink:OntologyClass	hp	UMLS:C1839603	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.	http://purl.obolibrary.org/obo/HP_0000114		Proximal renal tubule defect|Proximal renal tubulopathy|Proximal tubular defect|Proximal tubule dysfunction|Selective proximal tubular damage
OBO:HP_0000117	Renal phosphate wasting	biolink:OntologyClass	hp	UMLS:C1845169	High urine phosphate in the presence of hypophosphatemia.	http://purl.obolibrary.org/obo/HP_0000117		Decreased renal tubular phosphate reabsorption|Decreased tubular maximum for phosphate reabsorption per glomerular filtration rate|Tubular phosphate reabsorption low
OBO:HP_0000118	Phenotypic abnormality	biolink:OntologyClass	hp	UMLS:C4021819	A phenotypic abnormality.	http://purl.obolibrary.org/obo/HP_0000118		Organ abnormality
OBO:HP_0000119	Abnormality of the genitourinary system	biolink:OntologyClass	hp	MSH:D014564|SNOMEDCT_US:287085006|SNOMEDCT_US:42030000|UMLS:C0042063|UMLS:C0080276|UMLS:C4020895	The presence of any abnormality of the genitourinary system.	http://purl.obolibrary.org/obo/HP_0000119		Abnormality of the GU system|Genitourinary abnormality|Genitourinary tract anomalies|Genitourinary tract malformation|Urogenital abnormalities|Urogenital anomalies|Genitourinary disease|Genitourinary dysplasia
OBO:HP_0000121	Nephrocalcinosis	biolink:OntologyClass	hp	MSH:D009397|SNOMEDCT_US:48638002|UMLS:C0027709|UMLS:C4280679	Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.	http://purl.obolibrary.org/obo/HP_0000121		Too much calcium deposited in kidneys|Increased calcium level in kidney
OBO:HP_0000122	Unilateral renal agenesis	biolink:OntologyClass	hp	Fyler:4509|SNOMEDCT_US:55726006|UMLS:C0266294	A unilateral form of agenesis of the kidney.	http://purl.obolibrary.org/obo/HP_0000122		Absent kidney on one side|Missing one kidney|Single kidney|Unilateral kidney agenesis
OBO:HP_0000123	Nephritis	biolink:OntologyClass	hp	MSH:D009393|SNOMEDCT_US:52845002|UMLS:C0027697	The presence of inflammation affecting the kidney.	http://purl.obolibrary.org/obo/HP_0000123		Kidney inflammation
OBO:HP_0000124	Renal tubular dysfunction	biolink:OntologyClass	hp	SNOMEDCT_US:95568003|UMLS:C0151747	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.	http://purl.obolibrary.org/obo/HP_0000124		Abnormal function of filtrating structures in kidney|Renal tubular defect|Renal tubular disease
OBO:HP_0000125	Pelvic kidney	biolink:OntologyClass	hp	SNOMEDCT_US:56108007|UMLS:C0221209	A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis.	http://purl.obolibrary.org/obo/HP_0000125		Sacral kidney
OBO:HP_0000126	Hydronephrosis	biolink:OntologyClass	hp	Fyler:4502|MSH:D006869|SNOMEDCT_US:43064006|UMLS:C0020295	Severe distention of the kidney with dilation of the renal pelvis and calices.	http://purl.obolibrary.org/obo/HP_0000126		
OBO:HP_0000127	Renal salt wasting	biolink:OntologyClass	hp	UMLS:C1846347	A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s).	http://purl.obolibrary.org/obo/HP_0000127		Loss of salt in urine|Renal salt-wasting|Salt wasting|Salt-wasting
OBO:HP_0000128	Renal potassium wasting	biolink:OntologyClass	hp	UMLS:C1846348	High urine potassium in the presence of hypokalemia.	http://purl.obolibrary.org/obo/HP_0000128		Renal K wasting
OBO:HP_0000130	Abnormality of the uterus	biolink:OntologyClass	hp	MSH:C562565|SNOMEDCT_US:37849005|UMLS:C0266383	An abnormality of the uterus.	http://purl.obolibrary.org/obo/HP_0000130		Abnormality of the uterus|Uterine abnormalities|Uterine malformations
OBO:HP_0000131	Uterine leiomyoma	biolink:OntologyClass	hp	MSH:D007889|NCIT:C3157|SNOMEDCT_US:146801000119103|SNOMEDCT_US:44598004|SNOMEDCT_US:95315005|UMLS:C0042133	The presence of a leiomyoma of the uterus.	http://purl.obolibrary.org/obo/HP_0000131		Benign uterine leiomyomas|Uterine fibroid
OBO:HP_0000132	Menorrhagia	biolink:OntologyClass	hp	MSH:D008595|SNOMEDCT_US:386692008|UMLS:C0025323	Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.	http://purl.obolibrary.org/obo/HP_0000132		Abnormally heavy bleeding during menstruation|Hypermenorrhea
OBO:HP_0000133	Gonadal dysgenesis	biolink:OntologyClass	hp	MSH:D006059|MSH:D006060|SNOMEDCT_US:205681004|SNOMEDCT_US:38804009|SNOMEDCT_US:83579008|SNOMEDCT_US:95219002|UMLS:C0018051|UMLS:C0018055|UMLS:C0687149		http://purl.obolibrary.org/obo/HP_0000133		Mixed gonadal dysgenesis|Pure gonadal dysgenesis
OBO:HP_0000134	Female hypogonadism	biolink:OntologyClass	hp	SNOMEDCT_US:16041008|UMLS:C0271578	Decreased functionality of the female gonads, i.e., of the ovary.	http://purl.obolibrary.org/obo/HP_0000134		Hypogonadism, female
OBO:HP_0000135	Hypogonadism	biolink:OntologyClass	hp	MSH:D007006|SNOMEDCT_US:48130008|UMLS:C0020619	A decreased functionality of the gonad.	http://purl.obolibrary.org/obo/HP_0000135		Decreased activity of gonads
OBO:HP_0000136	Bifid uterus	biolink:OntologyClass	hp	UMLS:C1850327	The presence of a bifid uterus.	http://purl.obolibrary.org/obo/HP_0000136		
OBO:HP_0000137	Abnormality of the ovary	biolink:OntologyClass	hp	MSH:D010049|SNOMEDCT_US:5552004|UMLS:C0029928|UMLS:C4021818	An abnormality of the ovary.	http://purl.obolibrary.org/obo/HP_0000137		Abnormality of the ovaries|Abnormality of the ovary|Ovarian disease
OBO:HP_0000138	Ovarian cyst	biolink:OntologyClass	hp	MSH:D010048|SNOMEDCT_US:79883001|UMLS:C0029927	The presence of one or more cysts of the ovary.	http://purl.obolibrary.org/obo/HP_0000138		Ovarian cyst|Cystic abnormalities of the ovaries|Cystic ovaries|Ovarian cystic abnormality
OBO:HP_0000139	Uterine prolapse	biolink:OntologyClass	hp	MSH:D014596|SNOMEDCT_US:24976005|UMLS:C0042140	The presence of prolapse of the uterus.	http://purl.obolibrary.org/obo/HP_0000139		Sagging uterus
OBO:HP_0000140	Abnormality of the menstrual cycle	biolink:OntologyClass	hp	UMLS:C3549779|UMLS:C4025888	An abnormality of the ovulation cycle.	http://purl.obolibrary.org/obo/HP_0000140		Abnormality of the menstrual cycle|Menstrual abnormalities
OBO:HP_0000141	Amenorrhea	biolink:OntologyClass	hp	UMLS:C2219717	Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months.	http://purl.obolibrary.org/obo/HP_0000141		Abnormal absence of menstruation
OBO:HP_0000142	Abnormal vagina morphology	biolink:OntologyClass	hp	UMLS:C1856023	Any structural abnormality of the vagina.	http://purl.obolibrary.org/obo/HP_0000142		Vaginal malformation
OBO:HP_0000143	Rectovaginal fistula	biolink:OntologyClass	hp	MEDDRA:10051097|MSH:D012006|SNOMEDCT_US:65619001|UMLS:C0034895	The presence of a fistula between the vagina and the rectum.	http://purl.obolibrary.org/obo/HP_0000143	hposlim_core	Abnormal connection between rectum and vagina
OBO:HP_0000144	Decreased fertility	biolink:OntologyClass	hp	SNOMEDCT_US:17276009|UMLS:C0520927		http://purl.obolibrary.org/obo/HP_0000144		Abnormal fertility|Decreased fertility
OBO:HP_0000145	Transverse vaginal septum	biolink:OntologyClass	hp	UMLS:C1856006		http://purl.obolibrary.org/obo/HP_0000145		Transverse vaginal membrane
OBO:HP_0000147	Polycystic ovaries	biolink:OntologyClass	hp	MSH:D011085|SNOMEDCT_US:69878008|UMLS:C0032460|UMLS:C1136382		http://purl.obolibrary.org/obo/HP_0000147		Polycystic ovary|Sclerocystic ovaries|Polycystic ovary disease
OBO:HP_0000148	Vaginal atresia	biolink:OntologyClass	hp	SNOMEDCT_US:87380008|UMLS:C1321884	Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion.	http://purl.obolibrary.org/obo/HP_0000148		Abnormally closed or absent vagina
OBO:HP_0000149	Ovarian gonadoblastoma	biolink:OntologyClass	hp	NCIT:C3754|SNOMEDCT_US:716594002|UMLS:C1518716	The presence of a gonadoblastoma of the ovary.	http://purl.obolibrary.org/obo/HP_0000149		Gonadoblastoma, female
OBO:HP_0000150	Gonadoblastoma	biolink:OntologyClass	hp	MSH:D018238|NCIT:C3754|SNOMEDCT_US:74751003|UMLS:C0206661	The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements.	http://purl.obolibrary.org/obo/HP_0000150		
OBO:HP_0000151	Aplasia of the uterus	biolink:OntologyClass	hp	SNOMEDCT_US:248942000|UMLS:C0425913	Aplasia of the uterus.	http://purl.obolibrary.org/obo/HP_0000151		Absent uterus|uterus absent
OBO:HP_0000152	Abnormality of head or neck	biolink:OntologyClass	hp	UMLS:C4021817	An abnormality of head and neck.	http://purl.obolibrary.org/obo/HP_0000152		Abnormality of head or neck|Head and neck abnormality
OBO:HP_0000153	Abnormality of the mouth	biolink:OntologyClass	hp	MSH:D009056|SNOMEDCT_US:128334002|UMLS:C0026633	An abnormality of the mouth.	http://purl.obolibrary.org/obo/HP_0000153	hposlim_core	Abnormal mouth|Abnormality of the mouth
OBO:HP_0000154	Wide mouth	biolink:OntologyClass	hp	MSH:D008265|SNOMEDCT_US:40159009|UMLS:C0024433	Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).	http://purl.obolibrary.org/obo/HP_0000154	hposlim_core	Broad mouth|Large mouth|Wide mouth|Large oral aperture|Macrostomia
OBO:HP_0000155	Oral ulcer	biolink:OntologyClass	hp	MSH:D019226|SNOMEDCT_US:26284000|UMLS:C0149745	Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue.	http://purl.obolibrary.org/obo/HP_0000155	hposlim_core	Mouth sore|Mouth ulcer|Oral mucosal ulceration
OBO:HP_0000157	Abnormality of the tongue	biolink:OntologyClass	hp	UMLS:C0878638	Any abnormality of the tongue.	http://purl.obolibrary.org/obo/HP_0000157	hposlim_core	Abnormal tongue|Abnormality of the tongue|Tongue abnormality|Glossal abnormality|Lingual abnormality
OBO:HP_0000158	Macroglossia	biolink:OntologyClass	hp	MSH:D008260|SNOMEDCT_US:25273001|UMLS:C0024421	Increased length and width of the tongue.	http://purl.obolibrary.org/obo/HP_0000158	hposlim_core	Abnormally large tongue|Increased size of tongue|Large tongue|Glossal hypertrophy|Lingual hyperplasia|Lingual hypertrophy|Hyperplasia of the tongue|Hypertrophy of the tongue|Tongue hypertrophy
OBO:HP_0000159	Abnormal lip morphology	biolink:OntologyClass	hp	UMLS:C2183966	An abnormality of the lip.	http://purl.obolibrary.org/obo/HP_0000159		Abnormal lip|Abnormality of the lip|Lip abnormality|Anomaly of lip|Deformity of lip|Malformation of lip
OBO:HP_0000160	Narrow mouth	biolink:OntologyClass	hp	MSH:D008865|SNOMEDCT_US:14582003|UMLS:C0026034	Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).	http://purl.obolibrary.org/obo/HP_0000160	hposlim_core	Narrow mouth|Small mouth|Microstomia|Small oral aperture
OBO:HP_0000161	Median cleft lip	biolink:OntologyClass	hp	UMLS:C1850256	A type of cleft lip presenting as a midline (median) gap in the upper lip.	http://purl.obolibrary.org/obo/HP_0000161	hposlim_core	Central cleft upper lip|Midline cleft lip
OBO:HP_0000162	Glossoptosis	biolink:OntologyClass	hp	MSH:D065710|SNOMEDCT_US:3639002|UMLS:C0267048|UMLS:C4280678	Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly.	http://purl.obolibrary.org/obo/HP_0000162	hposlim_core	Retraction of the tongue|Posterior displacement of the tongue|Lingual retraction
OBO:HP_0000163	Abnormal oral cavity morphology	biolink:OntologyClass	hp	UMLS:C4025887	Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth.	http://purl.obolibrary.org/obo/HP_0000163		Abnormality of the oral cavity
OBO:HP_0000164	Abnormality of the dentition	biolink:OntologyClass	hp	MSH:D014071|SNOMEDCT_US:422775003|UMLS:C0040427|UMLS:C0262444	Any abnormality of the teeth.	http://purl.obolibrary.org/obo/HP_0000164	hposlim_core	Abnormal dentition|Abnormal teeth|Dental abnormality|Dental abnormalities|Dental anomalies|Abnormality of the teeth|Dental problem|Tooth abnormalities|Dental problems
OBO:HP_0000166	Severe periodontitis	biolink:OntologyClass	hp	UMLS:C4025886	A severe form of periodontitis.	http://purl.obolibrary.org/obo/HP_0000166		Severe gum disease|Severe periodontal disease|Severe pyorrhea
OBO:HP_0000168	Abnormality of the gingiva	biolink:OntologyClass	hp	UMLS:C4021816	Any abnormality of the gingiva (also known as gums).	http://purl.obolibrary.org/obo/HP_0000168	hposlim_core	Abnormality of the gums|Gingival abnormality
OBO:HP_0000169	Gingival fibromatosis	biolink:OntologyClass	hp	MSH:C562884|MSH:D005351|NCIT:C3041|SNOMEDCT_US:109620006|SNOMEDCT_US:58569000|UMLS:C0016049|UMLS:C0399440|UMLS:C4280677	The presence of fibrosis of the gingiva.	http://purl.obolibrary.org/obo/HP_0000169	hposlim_core	Gingival fibroma|Gingival fibrous nodules|Hereditary gingival fibromatosis|Idiopathic gingival hyperplasia
OBO:HP_0000171	Microglossia	biolink:OntologyClass	hp	MSH:D014060|SNOMEDCT_US:249380003|SNOMEDCT_US:32614006|UMLS:C0025988|UMLS:C0426492	Decreased length and width of the tongue.	http://purl.obolibrary.org/obo/HP_0000171	hposlim_core	Abnormally small tongue|Underdevelopment of the tongue|Decreased size of tongue|Hypoglossia|Hypoplasia of the tongue|Hypoplastic tongue|Lingual hypoplasia|Rudimentary tongue|Small tongue
OBO:HP_0000172	Abnormality of the uvula	biolink:OntologyClass	hp	UMLS:C4025885	Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate.	http://purl.obolibrary.org/obo/HP_0000172	hposlim_core	Abnormality of the uvula|Abnormality of palatine uvula
OBO:HP_0000174	Abnormal palate morphology	biolink:OntologyClass	hp	UMLS:C4021815	Any abnormality of the palate, i.e., of roof of the mouth.	http://purl.obolibrary.org/obo/HP_0000174	hposlim_core	Abnormality of the palate|Abnormality of the roof of the mouth|Palatal anomaly|Palate abnormality
OBO:HP_0000175	Cleft palate	biolink:OntologyClass	hp	Fyler:4876|MSH:D002972|SNOMEDCT_US:63567004|SNOMEDCT_US:87979003|UMLS:C0008925|UMLS:C2981150	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).	http://purl.obolibrary.org/obo/HP_0000175	hposlim_core	Cleft palate|Cleft roof of mouth|Cleft secondary palate|Cleft hard and soft palate|Cleft of hard and soft palate|Cleft of palate|Palatoschisis|Uranostaphyloschisis
OBO:HP_0000176	Submucous cleft hard palate	biolink:OntologyClass	hp	SNOMEDCT_US:43437003|UMLS:C0432103|UMLS:C4020894	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.	http://purl.obolibrary.org/obo/HP_0000176		Partial thickness cleft hard palate|Submucosal cleft palate|Submucous clefting
OBO:HP_0000177	Abnormality of upper lip	biolink:OntologyClass	hp	UMLS:C4025884	An abnormality of the upper lip.	http://purl.obolibrary.org/obo/HP_0000177	hposlim_core	Abnormality of upper lip|Anomaly of the upper lip|Deformity of the upper lip|Malformation of the upper lip
OBO:HP_0000178	Abnormality of lower lip	biolink:OntologyClass	hp	UMLS:C4025883	An abnormality of the lower lip.	http://purl.obolibrary.org/obo/HP_0000178	hposlim_core	Abnormality of lower lip|Anomaly of the lower lip|Deformity of the lower lip|Malformation of the lower lip
OBO:HP_0000179	Thick lower lip vermilion	biolink:OntologyClass	hp	UMLS:C1839739|UMLS:C2053437	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).	http://purl.obolibrary.org/obo/HP_0000179		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
OBO:HP_0000180	Lobulated tongue	biolink:OntologyClass	hp	SNOMEDCT_US:253752000|UMLS:C0431564	Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour.	http://purl.obolibrary.org/obo/HP_0000180	hposlim_core	Bumpy tongue|Lingual lobules|Lobulate tongue
OBO:HP_0000182	Movement abnormality of the tongue	biolink:OntologyClass	hp	UMLS:C4025882		http://purl.obolibrary.org/obo/HP_0000182		Movement abnormality of the tongue|Abnormality of lingual movement
OBO:HP_0000183	Difficulty in tongue movements	biolink:OntologyClass	hp	UMLS:C1853406|UMLS:C4280676		http://purl.obolibrary.org/obo/HP_0000183		Difficulty in tongue movements|Difficulty in lingual movements|Hypokinesia of the tongue|Lingual hypokinesia
OBO:HP_0000185	Cleft soft palate	biolink:OntologyClass	hp	MSH:C562950|SNOMEDCT_US:253997002|UMLS:C0432098	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.	http://purl.obolibrary.org/obo/HP_0000185		Cleft muscular palate|Cleft of soft palate|Cleft velum
OBO:HP_0000187	Broad alveolar ridges	biolink:OntologyClass	hp	UMLS:C1857500|UMLS:C4280675		http://purl.obolibrary.org/obo/HP_0000187		Wide gum ridges|Broad alveolar margins|Widened alveolar ridges|Broad alveolar processes of jaw|Wide alveolar margins|Wide alveolar processes of jaw
OBO:HP_0000188	Short upper lip	biolink:OntologyClass	hp	UMLS:C1848977	Decreased width of the upper lip.	http://purl.obolibrary.org/obo/HP_0000188		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
OBO:HP_0000189	Narrow palate	biolink:OntologyClass	hp	UMLS:C1398312	Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective).	http://purl.obolibrary.org/obo/HP_0000189	hposlim_core	Narrow palate|Narrow roof of mouth|Decreased palatal width|Decreased transverse dimension of palate
OBO:HP_0000190	Abnormal oral frenulum morphology	biolink:OntologyClass	hp	UMLS:C4025881	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.	http://purl.obolibrary.org/obo/HP_0000190		Abnormality of frenum of tongue|Abnormality of lingual frenum|Abnormality of oral frenula|Abnormality of oral frenum
OBO:HP_0000191	Accessory oral frenulum	biolink:OntologyClass	hp	UMLS:C4021814	Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip.	http://purl.obolibrary.org/obo/HP_0000191	hposlim_core	Accessory oral frenum|Extra oral frenulum|Extra oral frenum|Multiple oral frenula|Supernumerary oral frenulum|Supernumerary oral frenum
OBO:HP_0000193	Bifid uvula	biolink:OntologyClass	hp	SNOMEDCT_US:18910001|UMLS:C0266122	Uvula separated into two parts most easily seen at the tip.	http://purl.obolibrary.org/obo/HP_0000193	hposlim_core	Bifid palatine uvula|Cleft of uvula|Cleft uvula|Forked uvula|Split uvula|Uvula bifida
OBO:HP_0000194	Open mouth	biolink:OntologyClass	hp	SNOMEDCT_US:262016004|UMLS:C0240379	A facial appearance characterized by a permanently or nearly permanently opened mouth.	http://purl.obolibrary.org/obo/HP_0000194		Gaped jawed appearance|Gaped mouthed appearance|Open mouth|Slack jawed appearance|Open mouth appearance
OBO:HP_0000196	Lower lip pit	biolink:OntologyClass	hp	UMLS:C1861544	Depression located on the vermilion of the lower lip, usually paramedian.	http://purl.obolibrary.org/obo/HP_0000196		
OBO:HP_0000197	Abnormal parotid gland morphology	biolink:OntologyClass	hp	UMLS:C4025880	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.	http://purl.obolibrary.org/obo/HP_0000197		Abnormality of parotid gland|Anomaly of the parotid gland
OBO:HP_0000198	Absence of Stensen duct	biolink:OntologyClass	hp	UMLS:C1858569|UMLS:C4280674		http://purl.obolibrary.org/obo/HP_0000198		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
OBO:HP_0000199	Tongue nodules	biolink:OntologyClass	hp	UMLS:C0241438		http://purl.obolibrary.org/obo/HP_0000199		Lingual nodules
OBO:HP_0000200	Short lingual frenulum	biolink:OntologyClass	hp	SNOMEDCT_US:249388005|UMLS:C0426501|UMLS:C4280673	The presence of an abnormally short lingual frenulum.	http://purl.obolibrary.org/obo/HP_0000200		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
OBO:HP_0000201	Pierre-Robin sequence	biolink:OntologyClass	hp	MSH:D010855|SNOMEDCT_US:4602007|UMLS:C0031900	Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate.	http://purl.obolibrary.org/obo/HP_0000201		Pierre Robin sequence|Pierre-robin anomaly|Pierre-robin deformity|Pierre-robin malformation|Robin sequence
OBO:HP_0000202	Oral cleft	biolink:OntologyClass	hp	SNOMEDCT_US:253983005|SNOMEDCT_US:66948001|UMLS:C0158646|UMLS:C4021813	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.	http://purl.obolibrary.org/obo/HP_0000202		Cleft of the mouth|Oral clefting|Cleft lip, cleft palate|Cleft lip/palate
OBO:HP_0000204	Cleft upper lip	biolink:OntologyClass	hp	Fyler:4875|MSH:D002971|SNOMEDCT_US:80281008|UMLS:C0008924	A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.	http://purl.obolibrary.org/obo/HP_0000204		Cleft upper lip|Harelip|Cleft of upper lip|Cheiloschisis of upper lip
OBO:HP_0000205	Pursed lips	biolink:OntologyClass	hp	UMLS:C1832130	An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance.	http://purl.obolibrary.org/obo/HP_0000205		Pursed lips|Tightly closed lips
OBO:HP_0000206	Glossitis	biolink:OntologyClass	hp	MSH:D005928|SNOMEDCT_US:45534005|UMLS:C0017675	Inflammation of the tongue.	http://purl.obolibrary.org/obo/HP_0000206	hposlim_core	Inflammation of the tongue|Smooth swollen tongue|Lingual inflammation
OBO:HP_0000207	Triangular mouth	biolink:OntologyClass	hp	UMLS:C1849341	The presence of a triangular form of the mouth.	http://purl.obolibrary.org/obo/HP_0000207		Triangular mouth|Triangular shaped mouth|Triangular shaped oral aperture
OBO:HP_0000211	Trismus	biolink:OntologyClass	hp	MSH:D014313|SNOMEDCT_US:87866006|UMLS:C0041105|UMLS:C1848474|UMLS:C4228933|UMLS:C4280672	Limitation in the ability to open the mouth.	http://purl.obolibrary.org/obo/HP_0000211		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
OBO:HP_0000212	Gingival overgrowth	biolink:OntologyClass	hp	MSH:D005885|MSH:D005886|MSH:D019214|SNOMEDCT_US:441787004|SNOMEDCT_US:441798003|SNOMEDCT_US:54711002|UMLS:C0017566|UMLS:C0017567|UMLS:C0376480	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.	http://purl.obolibrary.org/obo/HP_0000212	hposlim_core	Gum enlargement|Gingival enlargement|Gingival hyperplasia|Gum hypertrophy|Hypertrophic gingivitis|Oral soft tissue hyperplasia
OBO:HP_0000214	Lip telangiectasia	biolink:OntologyClass	hp	UMLS:C1857697|UMLS:C4280670|UMLS:C4280671	Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips.	http://purl.obolibrary.org/obo/HP_0000214		Spider veins of the lip|Labial telangiectasia|Lip telangiectases|Telangiectasia of the lips|Angioectasias of the lip|Labial angioectasias
OBO:HP_0000215	Thick upper lip vermilion	biolink:OntologyClass	hp	UMLS:C1846423	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).	http://purl.obolibrary.org/obo/HP_0000215	hposlim_core	Full upper lip|Increased volume of upper lip|Plump upper lip|Prominent upper lip|Thick upper lip|Thick red part of the upper lip|Full upper lip vermilion|Increased height of upper lip vermilion|Increased volume of upper lip vermilion|Thick vermilion border of upper lip|Prominent upper lip vermilion
OBO:HP_0000216	Broad secondary alveolar ridge	biolink:OntologyClass	hp	UMLS:C1839276		http://purl.obolibrary.org/obo/HP_0000216		Secondary alveolar ridges
OBO:HP_0000217	Xerostomia	biolink:OntologyClass	hp	MSH:D014987|SNOMEDCT_US:300268000|SNOMEDCT_US:56893005|SNOMEDCT_US:87715008|UMLS:C0043352	Dryness of the mouth due to salivary gland dysfunction.	http://purl.obolibrary.org/obo/HP_0000217	hposlim_core	Decreased salivary flow|Dry mouth|Dry mouth syndrome|Reduced salivation
OBO:HP_0000218	High palate	biolink:OntologyClass	hp	SNOMEDCT_US:27272007|UMLS:C0240635	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).	http://purl.obolibrary.org/obo/HP_0000218		Elevated palate|High palate|Increased palatal height|High arched palate|High, arched palate|High-arched palate|Palate high-arched|Palate, high-arched|Ogival palate
OBO:HP_0000219	Thin upper lip vermilion	biolink:OntologyClass	hp	UMLS:C1865017	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).	http://purl.obolibrary.org/obo/HP_0000219	hposlim_core	Thin upper lip|Thin red part of the upper lip|Decreased height of upper lip vermilion|Decreased volume of upper lip|Decreased volume of upper lip vermilion|Thin vermilion border of upper lip|Thin upper lips
OBO:HP_0000220	Velopharyngeal insufficiency	biolink:OntologyClass	hp	MSH:D014681|SNOMEDCT_US:229727006|SNOMEDCT_US:232416001|SNOMEDCT_US:278714002|UMLS:C0042454|UMLS:C4280669	Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech.	http://purl.obolibrary.org/obo/HP_0000220		Velopharyngeal incompetence|Velopharyngeal dysfunction
OBO:HP_0000221	Furrowed tongue	biolink:OntologyClass	hp	MSH:D014063|SNOMEDCT_US:52368004|UMLS:C0040412	Accentuation of the grooves on the dorsal surface of the tongue.	http://purl.obolibrary.org/obo/HP_0000221	hposlim_core	Grooved tongue|Fissured tongue|Lingual furrow|Lingue plicata|Plicated tongue|Prominent tongue grooves|Scrotal tongue
OBO:HP_0000222	Gingival hyperkeratosis	biolink:OntologyClass	hp	UMLS:C1857013	Hyperkeratosis of the gingiva.	http://purl.obolibrary.org/obo/HP_0000222		Hyperkeratosis, gingival
OBO:HP_0000223	Abnormality of taste sensation	biolink:OntologyClass	hp	UMLS:C4025879		http://purl.obolibrary.org/obo/HP_0000223		Abnormality of taste sensation
OBO:HP_0000224	Hypogeusia	biolink:OntologyClass	hp	MSH:D000370|SNOMEDCT_US:697990000|UMLS:C0151934		http://purl.obolibrary.org/obo/HP_0000224		Decreased taste|Decreased taste sensation
OBO:HP_0000225	Gingival bleeding	biolink:OntologyClass	hp	MSH:D005884|SNOMEDCT_US:86276007|UMLS:C0017565	Hemorrhage affecting the gingiva.	http://purl.obolibrary.org/obo/HP_0000225		Bleeding gums|Gingival hemorrhage|Gingivorrhagia
OBO:HP_0000227	Tongue telangiectasia	biolink:OntologyClass	hp	UMLS:C4025878|UMLS:C4280668	Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the tongue.	http://purl.obolibrary.org/obo/HP_0000227		Spider veins of the tongue|Lingual telangiectasia|Angioectasias of the tongue|Lingual angioectasias
OBO:HP_0000228	Oral cavity telangiectasia	biolink:OntologyClass	hp	UMLS:C4025877|UMLS:C4280667	Presence of telangiectases in the oral cavity.	http://purl.obolibrary.org/obo/HP_0000228		Spider veins of the mouth|Oral cavity teleangiectasia|Angioectasias of the mouth|Angioectasias of the oral cavity|Spider veins of the oral cavity
OBO:HP_0000230	Gingivitis	biolink:OntologyClass	hp	MSH:D005891|SNOMEDCT_US:66383009|UMLS:C0017574	Inflammation of the gingiva.	http://purl.obolibrary.org/obo/HP_0000230	hposlim_core	Inflamed gums|Red and swollen gums|Gingival inflammation
OBO:HP_0000232	Everted lower lip vermilion	biolink:OntologyClass	hp	UMLS:C1853246|UMLS:C1866234	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.	http://purl.obolibrary.org/obo/HP_0000232	hposlim_core	Drooping lower lip|Outward turned lower lip|Protruding lower lip|Eclabium of lower lip|Everted lower lip|Everted prominent lower lip
OBO:HP_0000233	Thin vermilion border	biolink:OntologyClass	hp	SNOMEDCT_US:301348000|UMLS:C0578038	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).	http://purl.obolibrary.org/obo/HP_0000233		Decreased volume of lip|Thin lips|Decreased volume of lip vermillion|Thin vermillion|Thin vermilion borders
OBO:HP_0000234	Abnormality of the head	biolink:OntologyClass	hp	UMLS:C4021812	An abnormality of the head.	http://purl.obolibrary.org/obo/HP_0000234		Abnormal head|Abnormality of the head|Head abnormality
OBO:HP_0000235	Abnormality of the fontanelles or cranial sutures	biolink:OntologyClass	hp	UMLS:C4025876	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).	http://purl.obolibrary.org/obo/HP_0000235		
OBO:HP_0000236	Abnormality of the anterior fontanelle	biolink:OntologyClass	hp	UMLS:C4025875	An abnormality of the anterior fontanelle, i.e., the cranial fontanelle that is located at the intersection of the coronal and sagittal sutures.	http://purl.obolibrary.org/obo/HP_0000236		Abnormality of the forehead soft spot
OBO:HP_0000237	Small anterior fontanelle	biolink:OntologyClass	hp	UMLS:C1859455	Abnormally decreased size of the anterior fontanelle with respect to age-dependent norms.	http://purl.obolibrary.org/obo/HP_0000237		Small anterior fontanel|Small forehead fontanel
OBO:HP_0000238	Hydrocephalus	biolink:OntologyClass	hp	MSH:D006849|SNOMEDCT_US:230745008|UMLS:C0020255	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.	http://purl.obolibrary.org/obo/HP_0000238		Too much cerebrospinal fluid in the brain|Hydrocephaly|Nonsyndromal hydrocephalus
OBO:HP_0000239	Large fontanelles	biolink:OntologyClass	hp	SNOMEDCT_US:276709006|UMLS:C0456132|UMLS:C4072820|UMLS:C4072821|UMLS:C4072822	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.	http://purl.obolibrary.org/obo/HP_0000239		Wide fontanelles|Enlarged fontanelles|Large fontanel|Large fontanelle|Large fontanels|Persistent wide fontanel|Large bregma sutures|Large, late-closing fontanelle|Wide bregma sutures
OBO:HP_0000240	Abnormality of skull size	biolink:OntologyClass	hp	UMLS:C4025874	Any abnormality of the size of the skull.	http://purl.obolibrary.org/obo/HP_0000240		Abnormality of head size|Abnormality of skull size|Abnormality of cranium size
OBO:HP_0000242	Parietal bossing	biolink:OntologyClass	hp	UMLS:C1857126	Parietal bossing is a marked prominence in the parietal region.	http://purl.obolibrary.org/obo/HP_0000242		Biparietal bossing|Bossing of parietal bone
OBO:HP_0000243	Trigonocephaly	biolink:OntologyClass	hp	MSH:D003398|SNOMEDCT_US:28740008|UMLS:C0265535|UMLS:C4280665|UMLS:C4280666	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.	http://purl.obolibrary.org/obo/HP_0000243	hposlim_core	Triangular head shape|Wedge shaped head|Triangular skull shape|Wedge shaped skull|Triangular cranium shape|Wedge shaped cranium
OBO:HP_0000244	Brachyturricephaly	biolink:OntologyClass	hp	UMLS:C1857484	Abnormal vertical height of the skull and a shortening of its anterior-posterior length, frequently combined with malformations of the occipital region.	http://purl.obolibrary.org/obo/HP_0000244		High, prominent forehead|Brachy-turricephaly|Turribrachycephaly
OBO:HP_0000245	Abnormal paranasal sinus morphology	biolink:OntologyClass	hp	UMLS:C4025873	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.	http://purl.obolibrary.org/obo/HP_0000245		Abnormality of the sinuses|Abnormality of the sinuses of the head|Abnormality of the paranasal sinuses
OBO:HP_0000246	Sinusitis	biolink:OntologyClass	hp	MSH:D010254|MSH:D012852|SNOMEDCT_US:36971009|SNOMEDCT_US:7393007|UMLS:C0030469|UMLS:C0037199	Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction.	http://purl.obolibrary.org/obo/HP_0000246	hposlim_core	Sinus infection|Sinus inflammation|Sinus disease
OBO:HP_0000248	Brachycephaly	biolink:OntologyClass	hp	MSH:D003398|SNOMEDCT_US:13649004|UMLS:C0221356|UMLS:C4072823|UMLS:C4072824	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.	http://purl.obolibrary.org/obo/HP_0000248	hposlim_core	Broad head shape|Broad skull shape|Wide head shape|Wide skull shape|Short and broad skull|Broad cranium shape|Wide cranium shape
OBO:HP_0000250	Dense calvaria	biolink:OntologyClass	hp	UMLS:C1854834	An abnormal increase of density of the bones making up the calvaria.	http://purl.obolibrary.org/obo/HP_0000250		Dense skull cap
OBO:HP_0000252	Microcephaly	biolink:OntologyClass	hp	Fyler:4310|SNOMEDCT_US:271611007|UMLS:C4551563	Head circumference below 2 standard deviations below the mean for age and gender.	http://purl.obolibrary.org/obo/HP_0000252	hposlim_core	Abnormally small head|Decreased size of head|Small head|Small skull|Abnormally small skull|Decreased circumference of cranium|Decreased size of skull|Reduced head circumference|Small head circumference|Abnormally small cranium|Decreased size of cranium|small calvarium|small cranium
OBO:HP_0000253	Progressive microcephaly	biolink:OntologyClass	hp	UMLS:C1850456	Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms.	http://purl.obolibrary.org/obo/HP_0000253		Progressively abnormally small cranium|Progressively abnormally small skull|Microcephaly, postnatal, progressive|Microcephaly, progressive
OBO:HP_0000255	Acute sinusitis	biolink:OntologyClass	hp	SNOMEDCT_US:15805002|UMLS:C0149512	An acute form of sinusitis.	http://purl.obolibrary.org/obo/HP_0000255		
OBO:HP_0000256	Macrocephaly	biolink:OntologyClass	hp	Fyler:4335|UMLS:C4083076|UMLS:C4255213|UMLS:C4280663|UMLS:C4280664	Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.	http://purl.obolibrary.org/obo/HP_0000256	hposlim_core	Big calvaria|Big cranium|Big head|Big skull|Increased size of head|Large skull|Increased size of skull|Large head|Large head circumference|Large calvaria|Large cranium|Increased size of cranium|Macrocrania|Megacephaly
OBO:HP_0000260	Wide anterior fontanel	biolink:OntologyClass	hp	UMLS:C1866134	Enlargement of the anterior fontanelle with respect to age-dependent norms.	http://purl.obolibrary.org/obo/HP_0000260		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
OBO:HP_0000262	Turricephaly	biolink:OntologyClass	hp	MSH:D003398|SNOMEDCT_US:48069004|UMLS:C0030044	Tall head relative to width and length.	http://purl.obolibrary.org/obo/HP_0000262	hposlim_core	Tall shaped head|Tall shaped skull|Tower skull shape|Tall shaped cranium|Tower cranium shape
OBO:HP_0000263	Oxycephaly	biolink:OntologyClass	hp	MSH:D003398	Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull.	http://purl.obolibrary.org/obo/HP_0000263		Acrocephaly
OBO:HP_0000264	Abnormality of the mastoid	biolink:OntologyClass	hp	UMLS:C4025872	An abnormality of the mastoid process, which is the conical prominence projecting from the undersurface of the mastoid portion of the temporal bone.	http://purl.obolibrary.org/obo/HP_0000264	hposlim_core	Abnormality of mastoid process of temporal bone
OBO:HP_0000265	Mastoiditis	biolink:OntologyClass	hp	MSH:D008417|SNOMEDCT_US:52404001|UMLS:C0024904		http://purl.obolibrary.org/obo/HP_0000265		
OBO:HP_0000267	Cranial asymmetry	biolink:OntologyClass	hp	UMLS:C1860245|UMLS:C4280258|UMLS:C4280657|UMLS:C4280658|UMLS:C4280659|UMLS:C4280660|UMLS:C4280661|UMLS:C4280662	Asymmetry of the bones of the skull.	http://purl.obolibrary.org/obo/HP_0000267		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
OBO:HP_0000268	Dolichocephaly	biolink:OntologyClass	hp	SNOMEDCT_US:72239002|UMLS:C0221358|UMLS:C4280653|UMLS:C4280654|UMLS:C4280655|UMLS:C4280656	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.	http://purl.obolibrary.org/obo/HP_0000268	hposlim_core	Narrow head shape|Narrow skull shape|Long, narrow head|Tall and narrow skull|Narrow cranium shape|Turridolichocephaly|Large dolichocephalic skull
OBO:HP_0000269	Prominent occiput	biolink:OntologyClass	hp	UMLS:C1853737|UMLS:C4280652	Increased convexity of the occiput (posterior part of the skull).	http://purl.obolibrary.org/obo/HP_0000269	hposlim_core	Prominent back of the head|Prominent posterior head|Protruding back of the head|Prominent back of the skull|Prominent posterior skull|Prominent posterior cranium|Protruding occiput
OBO:HP_0000270	Delayed cranial suture closure	biolink:OntologyClass	hp	SNOMEDCT_US:82779003|UMLS:C0277828	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.	http://purl.obolibrary.org/obo/HP_0000270		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
OBO:HP_0000271	Abnormality of the face	biolink:OntologyClass	hp	SNOMEDCT_US:118930001|SNOMEDCT_US:32003007|SNOMEDCT_US:398206004|SNOMEDCT_US:398302004|UMLS:C0266617|UMLS:C1290857|UMLS:C4025871	An abnormality of the face.	http://purl.obolibrary.org/obo/HP_0000271	hposlim_core	Disorder of face|Abnormal face|Abnormality of the face|Facial abnormality|Disorder of the face|Abnormality of the countenance|Abnormality of the physiognomy|Abnormality of the visage|Anomaly of face|Anomaly of the face|Facial anomaly
OBO:HP_0000272	Malar flattening	biolink:OntologyClass	hp	UMLS:C1858085|UMLS:C4280651	Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.	http://purl.obolibrary.org/obo/HP_0000272	hposlim_core	Zygomatic flattening|Decreased size of malar bone|Depressed malar region|Flat cheekbone|Malar hypoplasia|Underdevelopment of malar bone|Hypotrophic malar bone
OBO:HP_0000273	Facial grimacing	biolink:OntologyClass	hp	SNOMEDCT_US:37126005|UMLS:C0234853		http://purl.obolibrary.org/obo/HP_0000273		Facial grimacing
OBO:HP_0000274	Small face	biolink:OntologyClass	hp	UMLS:C1855538	A face that is short (HP:0011219) and narrow (HP:0000275).	http://purl.obolibrary.org/obo/HP_0000274		Short and narrow face|Small face|Small facies|Facial hypoplasia|Hypoplasia of face|Microface|Microfacies
OBO:HP_0000275	Narrow face	biolink:OntologyClass	hp	UMLS:C1837463|UMLS:C1849121	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).	http://purl.obolibrary.org/obo/HP_0000275	hposlim_core	Decreased breadth of face|Decreased width of face|Narrow face|Thin face|Decreased horizontal dimension of face|Decreased transverse dimension of face|Horizontal deficiency of face|Horizontal hypoplasia of face|Horizontal insufficiency of face|Narrow facies|Thin facies|Transverse deficiency of face|Transverse hypoplasia of face|Transverse insufficiency of face
OBO:HP_0000276	Long face	biolink:OntologyClass	hp	UMLS:C1836047	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).	http://purl.obolibrary.org/obo/HP_0000276	hposlim_core	Elongation of face|Increased height of face|Increased length of face|Long face|Vertical elongation of face|Vertical enlargement of face|Vertical overgrowth of face|Increased vertical dimension of face|Long facies|Vertical Facial Excess|Vertical excess of face|Vertical hyperplasia of face
OBO:HP_0000277	Abnormality of the mandible	biolink:OntologyClass	hp	UMLS:C4025870	Any abnormality of the mandible, the bone of the lower jaw.	http://purl.obolibrary.org/obo/HP_0000277	hposlim_core	Abnormality of the lower jaw bone|Abnormality of the mandible|Deformity of the lower jaw bone|Malformation of the lower jaw bone|Anomaly of the mandible|Deformity of the mandible|Malformation of the mandible
OBO:HP_0000278	Retrognathia	biolink:OntologyClass	hp	MSH:D063173|UMLS:C3494422	An abnormality in which the mandible is mislocalised posteriorly.	http://purl.obolibrary.org/obo/HP_0000278	hposlim_core	Receding chin|Receding lower jaw|Weak chin|Weak jaw|Lower jaw retrognathia|Receding mandible|Retrognathia of lower jaw|Retrogenia
OBO:HP_0000280	Coarse facial features	biolink:OntologyClass	hp	UMLS:C1845847|UMLS:C4072825	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.	http://purl.obolibrary.org/obo/HP_0000280	hposlim_core	Coarse facial appearance|Coarse facial features|Rounded and heavy facial features|Thickened facial skin with coarse facial features|Coarse face|Coarse facies
OBO:HP_0000282	Facial edema	biolink:OntologyClass	hp	SNOMEDCT_US:445088006|UMLS:C0542571		http://purl.obolibrary.org/obo/HP_0000282		Facial puffiness|Facial swelling|Facial oedema
OBO:HP_0000283	Broad face	biolink:OntologyClass	hp	UMLS:C1859680	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).	http://purl.obolibrary.org/obo/HP_0000283	hposlim_core	Broad face|Increased breadth of face|Increased width of face|Wide face|Broad facies|Horizontal excess of face|Horizontal hyperplasia of face|Increased horizontal dimension of face|Increased transverse dimension of face|Transverse excess of face|Transverse hyperplasia of face|Wide facies
OBO:HP_0000284	obsolete Abnormality of the ocular region	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0000284		
OBO:HP_0000286	Epicanthus	biolink:OntologyClass	hp	UMLS:C0678230	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.	http://purl.obolibrary.org/obo/HP_0000286	hposlim_core	Eye folds|Prominent eye folds|Epicanthal fold|Epicanthal folds|Epicanthic folds|Palpebronasal fold|Plica palpebronasalis
OBO:HP_0000287	Increased facial adipose tissue	biolink:OntologyClass	hp	UMLS:C4025868|UMLS:C4280649|UMLS:C4280650	An increased amount of subcutaneous fat tissue in the face.	http://purl.obolibrary.org/obo/HP_0000287		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
OBO:HP_0000288	Abnormality of the philtrum	biolink:OntologyClass	hp	UMLS:C1857045	An abnormality of the philtrum.	http://purl.obolibrary.org/obo/HP_0000288	hposlim_core	Abnormal philtrum|Abnormality of the infranasal depression|Abnormality of the paralabial region
OBO:HP_0000289	Broad philtrum	biolink:OntologyClass	hp	UMLS:C1854111	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.	http://purl.obolibrary.org/obo/HP_0000289	hposlim_core	Increased breadth of philtrum|Increased horizontal dimension of philtrum|Increased transverse dimension of philtrum|Increased width of philtrum|Wide philtrum
OBO:HP_0000290	Abnormality of the forehead	biolink:OntologyClass	hp	UMLS:C4025867	An anomaly of the forehead.	http://purl.obolibrary.org/obo/HP_0000290	hposlim_core	Abnormality of the forehead|Anomaly of the forehead|Deformity of the forehead|Malformation of the forehead|Abnormality of the frontal region of the face
OBO:HP_0000291	Abnormality of facial adipose tissue	biolink:OntologyClass	hp	UMLS:C4025866		http://purl.obolibrary.org/obo/HP_0000291		Abnormality of facial fat|Deformity of facial adipose tissue|Malformation of facial adipose tissue
OBO:HP_0000292	Loss of facial adipose tissue	biolink:OntologyClass	hp	UMLS:C1837767	Loss of normal subcutaneous fat tissue in the face.	http://purl.obolibrary.org/obo/HP_0000292		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
OBO:HP_0000293	Full cheeks	biolink:OntologyClass	hp	UMLS:C1866231|UMLS:C2748653|UMLS:C3806443|UMLS:C4280647|UMLS:C4280648	Increased prominence or roundness of soft tissues between zygomata and mandible.	http://purl.obolibrary.org/obo/HP_0000293	hposlim_core	Apple cheeks|Big cheeks|Full cheeks|Increased size of cheeks|Large cheeks|Chubby cheeks|Puffy cheeks|Hyperplasia of cheeks|Hypertrophy of cheeks
OBO:HP_0000294	Low anterior hairline	biolink:OntologyClass	hp	UMLS:C1842366	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.	http://purl.obolibrary.org/obo/HP_0000294	hposlim_core	Low frontal hairline|Low-set frontal hairline
OBO:HP_0000295	Doll-like facies	biolink:OntologyClass	hp	UMLS:C1856361	A characteristic facial appearance with a round facial form, full cheeks, a short nose, and a relatively small chin.	http://purl.obolibrary.org/obo/HP_0000295		Doll-like facial appearance
OBO:HP_0000297	Facial hypotonia	biolink:OntologyClass	hp	UMLS:C1845251|UMLS:C4280646	Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve).	http://purl.obolibrary.org/obo/HP_0000297		Decreased facial muscle tone|Low facial muscle tone|Reduced facial muscle tone|Hypotonic facies|Atony of facial musculature
OBO:HP_0000298	Mask-like facies	biolink:OntologyClass	hp	SNOMEDCT_US:103606006|UMLS:C0424448	A lack of facial expression often with staring eyes and a slightly open mouth.	http://purl.obolibrary.org/obo/HP_0000298		Expressionless face|Lack of facial expression|Mask-like facial appearance|Amimia|Masklike facies
OBO:HP_0000300	Oval face	biolink:OntologyClass	hp	UMLS:C1849025	A face with a rounded and slightly elongated outline.	http://purl.obolibrary.org/obo/HP_0000300		Oval face|Oval facial shape|Oval facies
OBO:HP_0000301	Abnormality of facial musculature	biolink:OntologyClass	hp	UMLS:C4025865	An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve).	http://purl.obolibrary.org/obo/HP_0000301		Abnormality of facial muscles|Facial muscle issue
OBO:HP_0000303	Mandibular prognathia	biolink:OntologyClass	hp	MSH:D008313|SNOMEDCT_US:109504005|SNOMEDCT_US:22810007|UMLS:C0302501|UMLS:C0399526|UMLS:C2227134|UMLS:C4280644|UMLS:C4280645	Abnormal prominence of the chin related to increased length of the mandible.	http://purl.obolibrary.org/obo/HP_0000303	hposlim_core	Big lower jaw|Increased projection of lower jaw|Increased size of lower jaw|Large lower jaw|Prominent chin|Prominent lower jaw|Increased size of mandible|Hypertrophy of lower jaw|Hypertrophy of mandible|Big mandible|Enlarged mandible|Enlargement of mandible|Hyperplasia of lower jaw|Increased projection of mandible|Large mandible|Lower jaw excess|Lower jaw hyperplasia|Macromandible|Mandible prognathism|Mandibular excess|Mandibular hyperplasia|Mandibular macrognathia|Mandibular prognathism|Prognathia|Prognathism|Prominent jaw|Prominent mandible|Relative mandibular prognathism
OBO:HP_0000306	Abnormality of the chin	biolink:OntologyClass	hp	UMLS:C4025864	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.	http://purl.obolibrary.org/obo/HP_0000306	hposlim_core	Abnormality of the chin|Anomaly of the chin|Deformity of the chin|Malformation of the chin|Abnormality of the menton
OBO:HP_0000307	Pointed chin	biolink:OntologyClass	hp	UMLS:C1844505	A marked tapering of the lower face to the chin.	http://purl.obolibrary.org/obo/HP_0000307	hposlim_core	Pointed chin|Pointy chin|Small pointed chin|Witch's chin|Pointed mention region
OBO:HP_0000308	Microretrognathia	biolink:OntologyClass	hp	UMLS:C1839546	A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly.	http://purl.obolibrary.org/obo/HP_0000308		Small retruded chin|Retromicrognathia
OBO:HP_0000309	Abnormality of the midface	biolink:OntologyClass	hp	UMLS:C4021811	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.	http://purl.obolibrary.org/obo/HP_0000309		Abnormality of the midface|Deformity of the midface|Malformation of the midface|Anomaly of the midface
OBO:HP_0000311	Round face	biolink:OntologyClass	hp	UMLS:C0239479|UMLS:C1856468	The facial appearance is more circular than usual as viewed from the front.	http://purl.obolibrary.org/obo/HP_0000311	hposlim_core	Circular face|Round face|Round facial appearance|Round facial shape|Round, full face|Round facies
OBO:HP_0000315	Abnormality of the orbital region	biolink:OntologyClass	hp	UMLS:C4025863		http://purl.obolibrary.org/obo/HP_0000315		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
OBO:HP_0000316	Hypertelorism	biolink:OntologyClass	hp	MSH:D006972|SNOMEDCT_US:194021007|SNOMEDCT_US:22006008|UMLS:C0020534	Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).	http://purl.obolibrary.org/obo/HP_0000316	hposlim_core	Wide-set eyes|Widely spaced eyes|Excessive orbital separation|Increased distance between eye sockets|Increased distance between eyes|Increased interpupillary distance|Ocular hypertelorism|Widened interpupillary distance
OBO:HP_0000317	Facial myokymia	biolink:OntologyClass	hp	MSH:D005155|SNOMEDCT_US:1070000|UMLS:C0270871	Facial myokymia is a fine fibrillary activity of one or more muscles innervated by the facial nerve (the seventh cranial nerve).	http://purl.obolibrary.org/obo/HP_0000317		Involuntary facial quivering|Involuntary facial contraction
OBO:HP_0000319	Smooth philtrum	biolink:OntologyClass	hp	UMLS:C1142533	Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border.	http://purl.obolibrary.org/obo/HP_0000319		Decreased depth of philtrum|Flat philtrum|Indistinct philtrum|Philtrum, smooth|Shallow philtrum|Simple philtrum
OBO:HP_0000320	Bird-like facies	biolink:OntologyClass	hp	UMLS:C1837758		http://purl.obolibrary.org/obo/HP_0000320		Bird-like facial appearance
OBO:HP_0000321	Square face	biolink:OntologyClass	hp	UMLS:C1832127	Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance.	http://purl.obolibrary.org/obo/HP_0000321		Square face|Square facial shape|Square facies
OBO:HP_0000322	Short philtrum	biolink:OntologyClass	hp	UMLS:C1861324	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.	http://purl.obolibrary.org/obo/HP_0000322	hposlim_core	Decreased height of philtrum|Decreased length of philtrum|Decreased vertical dimension of philtrum|Vertical hypoplasia of philtrum
OBO:HP_0000324	Facial asymmetry	biolink:OntologyClass	hp	MSH:D005146|SNOMEDCT_US:15253005|UMLS:C1306710	An abnormal difference between the left and right sides of the face.	http://purl.obolibrary.org/obo/HP_0000324	hposlim_core	Asymmetry of face|Crooked face|Facial asymmetry|Unsymmetrical face|Unbalanced face|Unequal sides of face|Uneven face|Uneven sides of face|Asymmetric facies|Asymmetry of right and left side of face
OBO:HP_0000325	Triangular face	biolink:OntologyClass	hp	UMLS:C1835884	Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.	http://purl.obolibrary.org/obo/HP_0000325	hposlim_core	Face with broad temples and narrow chin|Triangular face|Triangular facial shape|Triangular facies
OBO:HP_0000326	Abnormality of the maxilla	biolink:OntologyClass	hp	UMLS:C4025862	An abnormality of the Maxilla (upper jaw bone).	http://purl.obolibrary.org/obo/HP_0000326	hposlim_core	Abnormality of the upper jaw bone|Abnormality of the upper jaw bones|Deformity of the maxilla|Deformity of the upper jaw bones|Malformation of the upper jaw bones|Anomaly of the maxilla|Malformation of the maxilla
OBO:HP_0000327	Hypoplasia of the maxilla	biolink:OntologyClass	hp	UMLS:C0240310|UMLS:C4082243|UMLS:C4280640|UMLS:C4280641|UMLS:C4280642|UMLS:C4280643	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.	http://purl.obolibrary.org/obo/HP_0000327	hposlim_core	Deficiency of upper jaw bones|Decreased size of maxilla|Decreased size of upper jaw|Maxillary deficiency|Maxillary retrusion|Small maxilla|Small upper jaw|Small upper jaw bones|Upper jaw deficiency|Upper jaw retrusion|Hypoplasia of upper jaw bones|Hypoplastic maxillary bones|Maxillary hypoplasia|Maxillary micrognathia|Maxillary retrognathia|Micromaxilla|Decreased projection of maxilla|Decreased projection of upper jaw|Hypotrophic maxilla|Hypotrophic upper jaw bones|Retrognathia of upper jaw|Retrusion of upper jaw bones
OBO:HP_0000329	Facial hemangioma	biolink:OntologyClass	hp	UMLS:C1861443	Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the face.	http://purl.obolibrary.org/obo/HP_0000329		Facial hemangiomata
OBO:HP_0000331	Short chin	biolink:OntologyClass	hp	SNOMEDCT_US:699439001|UMLS:C1839323|UMLS:C3697248	Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin.	http://purl.obolibrary.org/obo/HP_0000331		Decreased height of chin|Short chin|Short lower third of face|Small chin|Vertical deficiency of chin|Vertical hypoplasia of chin
OBO:HP_0000336	Prominent supraorbital ridges	biolink:OntologyClass	hp	UMLS:C1842060|UMLS:C4280636|UMLS:C4280637|UMLS:C4280638|UMLS:C4280639	Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones.	http://purl.obolibrary.org/obo/HP_0000336	hposlim_core	Prominent brow|Prominent supraorbital margins|Prominent supraorbital ridge|Protruding supraorbital ridge|Supraorbital hyperostosis|Hyperplasia of supraorbital margins|Hyperplasia of supraorbital ridge|Hypertrophy of supraorbital margins|Hypertrophy of supraorbital ridge
OBO:HP_0000337	Broad forehead	biolink:OntologyClass	hp	UMLS:C1849089	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.	http://purl.obolibrary.org/obo/HP_0000337	hposlim_core	Broad forehead|Increased width of the forehead|Wide forehead|Bitemporal widening|Increased bitemporal dimension|Increased bitemporal width|Intertemporal widening
OBO:HP_0000338	Hypomimic face	biolink:OntologyClass	hp	SNOMEDCT_US:248149005|UMLS:C0813217|UMLS:C1862474|UMLS:C4280635	A reduced degree of motion of the muscles beneath the skin of the face, often associated with reduced facial crease formation.	http://purl.obolibrary.org/obo/HP_0000338		Dull facial expression|Decreased facial expressions|Decreased facial muscle movement|Hypomimia
OBO:HP_0000339	Pugilistic facies	biolink:OntologyClass	hp	UMLS:C1846011	Coarse facial features reminiscent of those of a boxer.	http://purl.obolibrary.org/obo/HP_0000339		Boxer-like facial appearance|Pugilistic facial appearance
OBO:HP_0000340	Sloping forehead	biolink:OntologyClass	hp	UMLS:C1857679	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.	http://purl.obolibrary.org/obo/HP_0000340	hposlim_core	Inclined forehead|Receding forehead|Sloping forehead|Posteriorly sloping forehead
OBO:HP_0000341	Narrow forehead	biolink:OntologyClass	hp	UMLS:C1839758	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).	http://purl.obolibrary.org/obo/HP_0000341	hposlim_core	Decreased width of the forehead|Narrow forehead|Bitemporal narrowing|Bitemporal narrowness|Bitemporal skull narrowing|Intertemporal narrowing|Narrow bitemporal diameter|Narrow bitemporal width|Temporal narrowness
OBO:HP_0000343	Long philtrum	biolink:OntologyClass	hp	UMLS:C1865014	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.	http://purl.obolibrary.org/obo/HP_0000343	hposlim_core	Elongated philtrum|Increased height of philtrum|Increased length of philtrum|Increased vertical dimension of philtrum|Vertical hyperplasia of philtrum
OBO:HP_0000346	Whistling appearance	biolink:OntologyClass	hp	UMLS:C1848473	An abnormality of facial morphology characterized by a small mouth opening and constant contraction of the lips as if the patient were whistling.	http://purl.obolibrary.org/obo/HP_0000346		Whistling appearance|Whistling facial appearance
OBO:HP_0000347	Micrognathia	biolink:OntologyClass	hp	Fyler:4163|MSH:D008844|SNOMEDCT_US:32958008|UMLS:C0025990|UMLS:C0240295|UMLS:C1857130	Developmental hypoplasia of the mandible.	http://purl.obolibrary.org/obo/HP_0000347	hposlim_core	Little lower jaw|Small jaw|Small lower jaw|Deficiency of lower jaw|Decreased size of lower jaw|Decreased size of mandible|Hypoplasia of lower jaw|Hypoplasia of mandible|Hypoplastic mandible|Hypoplastic mandible condyle|Hypotrophic lower jaw|Hypotrophic mandible|Little mandible|Lower jaw deficiency|Lower jaw hypoplasia|Lower jaw retrusion|Mandibular deficiency|Mandibular hypoplasia|Mandibular micrognathia|Mandibular retrognathia|Mandibular retrusion|Micrognathia of lower jaw|Micromandible|Robin mandible|Severe hypoplasia of mandible|Small mandible|Underdevelopment of lower jaw|Underdevelopment of mandible|Decreased projection of lower jaw|Decreased projection of mandible|Retrusion of lower jaw
OBO:HP_0000348	High forehead	biolink:OntologyClass	hp	UMLS:C0239676|UMLS:C2677762	An abnormally increased height of the forehead.	http://purl.obolibrary.org/obo/HP_0000348		High forehead|Tall forehead
OBO:HP_0000349	Widow's peak	biolink:OntologyClass	hp	UMLS:C1853486	Frontal hairline with bilateral arcs to a low point in the midline of the forehead.	http://purl.obolibrary.org/obo/HP_0000349	hposlim_core	Hairline peak|Hairline point|Pointed hairline at front of head|V-shaped frontal hairline|Widow's peak|Pointed frontal hairline
OBO:HP_0000350	Small forehead	biolink:OntologyClass	hp	UMLS:C1845250|UMLS:C4280633|UMLS:C4280634	The presence of a forehead that is abnormally small.	http://purl.obolibrary.org/obo/HP_0000350		Decreased size of forehead|Small forehead|Decreased size of frontal region of face|Hypoplasia of forehead|Hypotrophic forehead
OBO:HP_0000356	Abnormality of the outer ear	biolink:OntologyClass	hp	SNOMEDCT_US:275259005|UMLS:C0266589|UMLS:C1846460	An abnormality of the external ear.	http://purl.obolibrary.org/obo/HP_0000356		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
OBO:HP_0000357	Abnormal location of ears	biolink:OntologyClass	hp	UMLS:C4021810	Abnormal location of the ear.	http://purl.obolibrary.org/obo/HP_0000357		Abnormal location of ears|External ear position defect
OBO:HP_0000358	Posteriorly rotated ears	biolink:OntologyClass	hp	SNOMEDCT_US:253251006|UMLS:C0431478	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).	http://purl.obolibrary.org/obo/HP_0000358	hposlim_core	Ears rotated toward back of head|Ear, posterior angulation, increased|Posteriorly angulated ears|Posteriorly rotated|Posteriorly rotated auricles|Posteriorly-angulated ears|Posteriorly-rotated ears
OBO:HP_0000359	Abnormality of the inner ear	biolink:OntologyClass	hp	UMLS:C4021809	An abnormality of the inner ear.	http://purl.obolibrary.org/obo/HP_0000359		Abnormality of the inner ear|Inner ear abnormality
OBO:HP_0000360	Tinnitus	biolink:OntologyClass	hp	MSH:D014012|SNOMEDCT_US:162349004|SNOMEDCT_US:162352007|SNOMEDCT_US:60862001|UMLS:C0040264	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.	http://purl.obolibrary.org/obo/HP_0000360	hposlim_core	Ringing in ears|Ringing in the ears
OBO:HP_0000361	obsolete Pulsatile tinnitus (tympanic paraganglioma)	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0000361		
OBO:HP_0000362	Otosclerosis	biolink:OntologyClass	hp	MSH:D010040|SNOMEDCT_US:11543004|UMLS:C0029899	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.	http://purl.obolibrary.org/obo/HP_0000362	hposlim_core	
OBO:HP_0000363	Abnormality of earlobe	biolink:OntologyClass	hp	UMLS:C4021808	An abnormality of the lobule of pinna.	http://purl.obolibrary.org/obo/HP_0000363	hposlim_core	Abnormal earlobe|Abnormality of ear lobe|Abnormality of earlobe|Abnormal lobe of ear|Abnormality of auricular lobule|Abnormality of lobulus auriculae
OBO:HP_0000364	Hearing abnormality	biolink:OntologyClass	hp	UMLS:C4025860	An abnormality of the sensory perception of sound.	http://purl.obolibrary.org/obo/HP_0000364		Abnormal hearing|Hearing abnormality
OBO:HP_0000365	Hearing impairment	biolink:OntologyClass	hp	Fyler:4868|MSH:D003638|MSH:D034381|SNOMEDCT_US:103276001|SNOMEDCT_US:15188001|SNOMEDCT_US:343087000|SNOMEDCT_US:95828007|UMLS:C0011053|UMLS:C0018772|UMLS:C0339789|UMLS:C1384666	A decreased magnitude of the sensory perception of sound.	http://purl.obolibrary.org/obo/HP_0000365		Deafness|Hearing defect|Hearing impairment|Hearing loss|Hypacusis|Hypoacusis
OBO:HP_0000366	Abnormality of the nose	biolink:OntologyClass	hp	SNOMEDCT_US:128274005|SNOMEDCT_US:72089000|UMLS:C0240547|UMLS:C0265736|UMLS:C2235909	An abnormality of the nose.	http://purl.obolibrary.org/obo/HP_0000366	hposlim_core	Abnormality of the nose|Nasal abnormality|Deformity of the nose|Malformation of the nose|Nasal deformity|Nasal malformation|Anomaly of the nose|Nasal anomaly
OBO:HP_0000368	Low-set, posteriorly rotated ears	biolink:OntologyClass	hp	UMLS:C1857486	Ears that are low-set (HP:0000369) and posteriorly rotated (HP:0000358).	http://purl.obolibrary.org/obo/HP_0000368		Low-set posteriorly rotated ears
OBO:HP_0000369	Low-set ears	biolink:OntologyClass	hp	SNOMEDCT_US:95515009|UMLS:C0239234	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.	http://purl.obolibrary.org/obo/HP_0000369	hposlim_core	Low set ears|Low-set ears|Lowset ears|Melotia
OBO:HP_0000370	Abnormality of the middle ear	biolink:OntologyClass	hp	UMLS:C1861141	An abnormality of the middle ear.	http://purl.obolibrary.org/obo/HP_0000370	hposlim_core	Middle ear abnormalities|Middle ear abnormality
OBO:HP_0000371	Acute otitis media	biolink:OntologyClass	hp	SNOMEDCT_US:3110003|UMLS:C0271429	Acute otitis media is a short and generally painful infection of the middle ear.	http://purl.obolibrary.org/obo/HP_0000371		Acute middle ear infection
OBO:HP_0000372	Abnormality of the auditory canal	biolink:OntologyClass	hp	UMLS:C4021807	An abnormality of the External acoustic tube (also known as the auditory canal).	http://purl.obolibrary.org/obo/HP_0000372		Auditory canal abnormality
OBO:HP_0000375	Abnormal cochlea morphology	biolink:OntologyClass	hp	UMLS:C4025858	An abnormality of the cochlea.	http://purl.obolibrary.org/obo/HP_0000375		Abnormality of cochlea
OBO:HP_0000376	Incomplete partition of the cochlea type II	biolink:OntologyClass	hp	UMLS:C1857078|UMLS:C4025857	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.	http://purl.obolibrary.org/obo/HP_0000376		Mondini malformation
OBO:HP_0000377	Abnormality of the pinna	biolink:OntologyClass	hp	SNOMEDCT_US:253255002|UMLS:C0431483|UMLS:C0857379	An abnormality of the pinna, which is also referred to as the auricle or external ear.	http://purl.obolibrary.org/obo/HP_0000377		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
OBO:HP_0000378	Cupped ear	biolink:OntologyClass	hp	UMLS:C1845447|UMLS:C4020892	Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura).	http://purl.obolibrary.org/obo/HP_0000378	hposlim_core	Cup-shaped ears|Cupped ear|Simple, cup-shaped ears|Capuchin ears|Cupped ears
OBO:HP_0000381	Stapes ankylosis	biolink:OntologyClass	hp	UMLS:C1861326	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).	http://purl.obolibrary.org/obo/HP_0000381	hposlim_core	
OBO:HP_0000383	Abnormality of periauricular region	biolink:OntologyClass	hp	UMLS:C4025856		http://purl.obolibrary.org/obo/HP_0000383		Abnormality of the region around the ear|Anomaly of the periauricular region|Deformity of the periauricular region|Malformation of the periauricular region
OBO:HP_0000384	Preauricular skin tag	biolink:OntologyClass	hp	UMLS:C1860816|UMLS:C4072826	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).	http://purl.obolibrary.org/obo/HP_0000384		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
OBO:HP_0000385	Small earlobe	biolink:OntologyClass	hp	UMLS:C1842680	Reduced volume of the earlobe.	http://purl.obolibrary.org/obo/HP_0000385	hposlim_core	Small earlobe|Small earlobes|Hypoplastic earlobes|Hypoplastic lobules
OBO:HP_0000387	Absent earlobe	biolink:OntologyClass	hp	UMLS:C1849364	Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura.	http://purl.obolibrary.org/obo/HP_0000387	hposlim_core	Absent earlobe|Earlobe, absent|Lobeless ears|Absent ear lobes
OBO:HP_0000388	Otitis media	biolink:OntologyClass	hp	MSH:D010033|SNOMEDCT_US:65363002|UMLS:C0029882	Inflammation or infection of the middle ear.	http://purl.obolibrary.org/obo/HP_0000388		Middle ear infection
OBO:HP_0000389	Chronic otitis media	biolink:OntologyClass	hp	SNOMEDCT_US:21186006|UMLS:C0271441|UMLS:C0743359	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.	http://purl.obolibrary.org/obo/HP_0000389	hposlim_core	Chronic infections of the middle ear|Chronic middle ear infection|Otitis media, chronic|Chronic ear infection
OBO:HP_0000391	Thickened helices	biolink:OntologyClass	hp	UMLS:C1837732	Increased thickness of the helix of the ear.	http://purl.obolibrary.org/obo/HP_0000391	hposlim_core	Thick helix
OBO:HP_0000394	Lop ear	biolink:OntologyClass	hp	SNOMEDCT_US:76223006|UMLS:C0266614	Anterior and inferior folding of the upper portion of the ear that obliterates triangular fossa and scapha.	http://purl.obolibrary.org/obo/HP_0000394	hposlim_core	
OBO:HP_0000395	Prominent antihelix	biolink:OntologyClass	hp	UMLS:C1845272	The presence of an abnormally prominent antihelix.	http://purl.obolibrary.org/obo/HP_0000395	hposlim_core	
OBO:HP_0000396	Overfolded helix	biolink:OntologyClass	hp	UMLS:C1837731	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.	http://purl.obolibrary.org/obo/HP_0000396	hposlim_core	Overfolded ears|Over-folded helices|Overfolded helices
OBO:HP_0000399	Prelingual sensorineural hearing impairment	biolink:OntologyClass	hp	UMLS:C4021806	A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech.	http://purl.obolibrary.org/obo/HP_0000399		Deafness, sensorineural, prelingual|Prelingual sensorineural deafness
OBO:HP_0000400	Macrotia	biolink:OntologyClass	hp	SNOMEDCT_US:275480001|SNOMEDCT_US:69056000|UMLS:C0152421|UMLS:C0554972|UMLS:C1835581|UMLS:C1848570|UMLS:C1850189|UMLS:C1855062|UMLS:C1860838	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).	http://purl.obolibrary.org/obo/HP_0000400	hposlim_core	Large ears|Large pinnae
OBO:HP_0000402	Stenosis of the external auditory canal	biolink:OntologyClass	hp	SNOMEDCT_US:300127002|SNOMEDCT_US:301061006|UMLS:C0395837|UMLS:C0576860	An abnormal narrowing of the external auditory canal.	http://purl.obolibrary.org/obo/HP_0000402	hposlim_core	Narrow ear canal|Narrowing of passageway from outer ear to middle ear|External auditory canal stenosis|Narrow auditory canals|Narrow external auditory canals|Narrow external auditory meatus|Stenotic external auditory canal
OBO:HP_0000403	Recurrent otitis media	biolink:OntologyClass	hp	UMLS:C0747085	Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.	http://purl.obolibrary.org/obo/HP_0000403		Recurrent middle ear infection|Frequent otitis media|Multiple episodes of otitis media|Otitis media, recurrent|Recurrent episodes of otitis media|Susceptibility to otitis media
OBO:HP_0000405	Conductive hearing impairment	biolink:OntologyClass	hp	MSH:D006314|SNOMEDCT_US:44057004|UMLS:C0018777	An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.	http://purl.obolibrary.org/obo/HP_0000405	hposlim_core	Conductive deafness|Conductive hearing loss|Conduction deafness|Hearing loss, conductive
OBO:HP_0000407	Sensorineural hearing impairment	biolink:OntologyClass	hp	MSH:D006319|SNOMEDCT_US:60700002|UMLS:C0018784	A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.	http://purl.obolibrary.org/obo/HP_0000407	hposlim_core	Hearing loss, sensorineural|Sensorineural deafness|Sensorineural hearing loss
OBO:HP_0000408	Progressive sensorineural hearing impairment	biolink:OntologyClass	hp	UMLS:C1843156	A progressive form of sensorineural hearing impairment.	http://purl.obolibrary.org/obo/HP_0000408		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
OBO:HP_0000410	Mixed hearing impairment	biolink:OntologyClass	hp	MSH:D046089|SNOMEDCT_US:77507001|UMLS:C0155552	A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment.	http://purl.obolibrary.org/obo/HP_0000410		Hearing loss, mixed|Mixed hearing impairment|Mixed hearing loss
OBO:HP_0000411	Protruding ear	biolink:OntologyClass	hp	SNOMEDCT_US:275478007|UMLS:C1305420|UMLS:C1855285	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).	http://purl.obolibrary.org/obo/HP_0000411		Prominent ear|Prominent ears|Protruding ears
OBO:HP_0000413	Atresia of the external auditory canal	biolink:OntologyClass	hp	UMLS:C1398325|UMLS:C1840305|UMLS:C1857079|UMLS:C1866190	Absence or failure to form of the external auditory canal.	http://purl.obolibrary.org/obo/HP_0000413	hposlim_core	Absent ear canal|Absent auditory canals|Absent external auditory canals|Atretic auditory canal|Atretic auditory canals|Atretic external auditory canal|Atretic external auditory canals|Auditory canal atresia|External acoustic meatus atresia|External auditory canal atresia|External auditory meatal atresia|External auditory meatus atresia|Atresia of the external auditory canals
OBO:HP_0000414	Bulbous nose	biolink:OntologyClass	hp	MSH:C538354|UMLS:C0240543|UMLS:C1834118|UMLS:C1855751	Increased volume and globular shape of the anteroinferior aspect of the nose.	http://purl.obolibrary.org/obo/HP_0000414		Bulbous nose|Potato nose|Bulbous nasal tip
OBO:HP_0000415	Abnormality of the choanae	biolink:OntologyClass	hp	UMLS:C4025855	Abnormality of the choanae (the posterior nasal apertures).	http://purl.obolibrary.org/obo/HP_0000415		
OBO:HP_0000417	Slender nose	biolink:OntologyClass	hp	UMLS:C1857645		http://purl.obolibrary.org/obo/HP_0000417		Slender nose
OBO:HP_0000418	Narrow nasal ridge	biolink:OntologyClass	hp	UMLS:C1837761	Decreased width of the nasal ridge.	http://purl.obolibrary.org/obo/HP_0000418		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
OBO:HP_0000419	Abnormality of the nasal septum	biolink:OntologyClass	hp	SNOMEDCT_US:95433000|UMLS:C0151790	An abnormality of the nasal septum.	http://purl.obolibrary.org/obo/HP_0000419	hposlim_core	Abnormality of septum of nose|Abnormality of the nasal septum|Anomaly of nasal septum|Anomaly of septum of nose
OBO:HP_0000420	Short nasal septum	biolink:OntologyClass	hp	UMLS:C1844857	Reduced superior to inferior length of the nasal septum.	http://purl.obolibrary.org/obo/HP_0000420	hposlim_core	Decreased length of nasal septum|Decreased length of septum of nose|Short nasal septum|Short septum of nose
OBO:HP_0000421	Epistaxis	biolink:OntologyClass	hp	COHD:318556|EFO:0003895|ICD10:R04.0|ICD9:784.7|MSH:D004844|NCIT:C26766|SNOMEDCT_US:12441001|SNOMEDCT_US:249366005|UMLS:C0014591	Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.	http://purl.obolibrary.org/obo/HP_0000421		Bloody nose|Frequent nosebleeds|Nose bleed|Nose bleeding|Nosebleed|Nasal hemorrhage
OBO:HP_0000422	Abnormal nasal bridge morphology	biolink:OntologyClass	hp	UMLS:C4021805	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.	http://purl.obolibrary.org/obo/HP_0000422	hposlim_core	Abnormality of the bridge of the nose|Abnormality of the nasal bridge|Deformity of the bridge of the nose|Deformity of the nasal bridge|Malformation of the bridge of the nose|Malformation of the nasal bridge|Abnormality of the nasal root
OBO:HP_0000426	Prominent nasal bridge	biolink:OntologyClass	hp	UMLS:C1854113|UMLS:C4230640	Anterior positioning of the nasal root in comparison to the usual positioning for age.	http://purl.obolibrary.org/obo/HP_0000426		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
OBO:HP_0000429	Abnormality of the nasal alae	biolink:OntologyClass	hp	UMLS:C2227020|UMLS:C4021804|UMLS:C4280631|UMLS:C4280632	An abnormality of the Ala of nose.	http://purl.obolibrary.org/obo/HP_0000429	hposlim_core	Abnormality of the nasal ala|Abnormality of the nasal alar cartilage|Deformity of the nasal ala|Deformity of the nasal alar cartilage|Malformation of the nasal ala|Malformation of the nasal alar cartilage
OBO:HP_0000430	Underdeveloped nasal alae	biolink:OntologyClass	hp	UMLS:C1834055	Thinned, deficient, or excessively arched ala nasi.	http://purl.obolibrary.org/obo/HP_0000430	hposlim_core	Underdeveloped tissue around nostril|Ala nasi, underdeveloped|Alar cartilage hypoplasia|Decreased size of nasal alae|Hypoplastic alae nasae|Hypoplastic alae nasi|Hypoplastic alar cartilage|Hypoplastic alar nasae|Hypoplastic nares|Hypoplastic nasal alae|Hypoplastic nasal wings|Hypoplastic nostrils|Nasal cartilage hypoplasia|Small nasal alae|Thin hypoplastic alae nasi
OBO:HP_0000431	Wide nasal bridge	biolink:OntologyClass	hp	SNOMEDCT_US:249321001|UMLS:C1839764|UMLS:C1849367	Increased breadth of the nasal bridge (and with it, the nasal root).	http://purl.obolibrary.org/obo/HP_0000431		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
OBO:HP_0000433	Abnormal nasal mucosa morphology	biolink:OntologyClass	hp	UMLS:C4025854		http://purl.obolibrary.org/obo/HP_0000433		Abnormality of mucosa of nose|Abnormality of mucous membrane of nose|Abnormality of nasal mucous membrane|Abnormality of the nasal mucosa
OBO:HP_0000434	Nasal mucosa telangiectasia	biolink:OntologyClass	hp	UMLS:C4025853	Telangiectasia of the nasal mucosa.	http://purl.obolibrary.org/obo/HP_0000434		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
OBO:HP_0000436	Abnormality of the nasal tip	biolink:OntologyClass	hp	UMLS:C4025852	An abnormality of the nasal tip.	http://purl.obolibrary.org/obo/HP_0000436	hposlim_core	Abnormality of the nasal tip|Abnormality of tip of nose|Deformity of the nasal tip|Deformity of tip of nose|Malformation of the nasal tip|Malformation of tip of nose
OBO:HP_0000437	Depressed nasal tip	biolink:OntologyClass	hp	UMLS:C1859717	Decreased distance from the nasal tip to the nasal base.	http://purl.obolibrary.org/obo/HP_0000437	hposlim_core	Caved in nasal tip|Depressed nasal tip|Depressed tip of nose|Flat nasal tip|Flat tip of nose|Flattened nasal tip|Nasal tip, depressed|Nasal tip, recessed|Nasal tip, retruded|Retruded tip of nose
OBO:HP_0000444	Convex nasal ridge	biolink:OntologyClass	hp	UMLS:C0240538	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.	http://purl.obolibrary.org/obo/HP_0000444	hposlim_core	Beaked nose|Beaklike protrusion|Hooked nose|Polly beak nasal deformity|Convex dorsum of nose|Convex nasal dorsum
OBO:HP_0000445	Wide nose	biolink:OntologyClass	hp	SNOMEDCT_US:249321001|UMLS:C0426421	Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae.	http://purl.obolibrary.org/obo/HP_0000445	hposlim_core	Broad nose|Increased breadth of nose|Increased nasal breadth|Increased nasal width|Increased width of nose|Wide nose
OBO:HP_0000446	Narrow nasal bridge	biolink:OntologyClass	hp	UMLS:C4551564	Decreased width of the bony bridge of the nose.	http://purl.obolibrary.org/obo/HP_0000446	hposlim_core	Narrow bridge of nose|Narrow nasal bridge|Nasal Bridge, Narrow|Nasal bridge, thin|Pinched bridge of nose|Pinched nasal bridge|Narrow nasal root
OBO:HP_0000447	Pear-shaped nose	biolink:OntologyClass	hp	UMLS:C1853482		http://purl.obolibrary.org/obo/HP_0000447		Pear-shaped nose
OBO:HP_0000448	Prominent nose	biolink:OntologyClass	hp	SNOMEDCT_US:249311009|UMLS:C0426415|UMLS:C1400105|UMLS:C4280629	Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip.	http://purl.obolibrary.org/obo/HP_0000448	hposlim_core	Big nose|Disproportionately large nose|Increased nasal size|Increased size of nose|Large nose|Prominent nose|Pronounced nose|Hyperplasia of nose|Hypertrophy of nose|Nasal hyperplasia|Nasal hypertrophy
OBO:HP_0000451	Triangular nasal tip	biolink:OntologyClass	hp	UMLS:C1839765		http://purl.obolibrary.org/obo/HP_0000451		Triangular nasal tip|Triangular shaped tip of nose
OBO:HP_0000452	Choanal stenosis	biolink:OntologyClass	hp	SNOMEDCT_US:306963008|UMLS:C0584837	Abnormal narrowing of the choana (the posterior nasal aperture).	http://purl.obolibrary.org/obo/HP_0000452	hposlim_core	Narrowing of the rear opening of the nasal cavity|Coanal stenosis
OBO:HP_0000453	Choanal atresia	biolink:OntologyClass	hp	Fyler:4203|MSH:D002754|SNOMEDCT_US:204508009|UMLS:C0008297	Absence or abnormal closure of the choana (the posterior nasal aperture).	http://purl.obolibrary.org/obo/HP_0000453	hposlim_core	Blockage of the rear opening of the nasal cavity|Obstruction of the rear opening of the nasal cavity
OBO:HP_0000454	Flared nostrils	biolink:OntologyClass	hp	SNOMEDCT_US:21558008|SNOMEDCT_US:248568003|UMLS:C0277873		http://purl.obolibrary.org/obo/HP_0000454		Flared nostrils|Flared nasal alae
OBO:HP_0000455	Broad nasal tip	biolink:OntologyClass	hp	SNOMEDCT_US:249327002|UMLS:C0426429	Increase in width of the nasal tip.	http://purl.obolibrary.org/obo/HP_0000455		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
OBO:HP_0000456	Bifid nasal tip	biolink:OntologyClass	hp	SNOMEDCT_US:249326006|UMLS:C0426428|UMLS:C4020890	A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip.	http://purl.obolibrary.org/obo/HP_0000456		Cleft nasal tip|Cleft tip of nose|Notched nasal tip|Notched tip of nose|Bifid tip of nose
OBO:HP_0000457	Depressed nasal ridge	biolink:OntologyClass	hp	UMLS:C1842876	Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge.	http://purl.obolibrary.org/obo/HP_0000457	hposlim_core	Flat nose|Recessed nasal ridge|Depressed dorsum of nose|Depressed nasal dorsum|Flat dorsum of nose|Flat nasal dorsum|Recessed dorsum of nose|Recessed nasal dorsum|Retruded dorsum of nose|Retruded nasal dorsum|Retruded nasal ridge
OBO:HP_0000458	Anosmia	biolink:OntologyClass	hp	MSH:D000857|SNOMEDCT_US:44169009|UMLS:C0003126	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.	http://purl.obolibrary.org/obo/HP_0000458	hposlim_core	Lost smell|Loss of smell
OBO:HP_0000460	Narrow nose	biolink:OntologyClass	hp	SNOMEDCT_US:249322008|UMLS:C0426422	Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae.	http://purl.obolibrary.org/obo/HP_0000460		Decreased nasal breadth|Decreased nasal width|Narrow nose|Thin nose
OBO:HP_0000463	Anteverted nares	biolink:OntologyClass	hp	SNOMEDCT_US:708670007|UMLS:C1840077	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).	http://purl.obolibrary.org/obo/HP_0000463		Nasal tip, upturned|Upturned nasal tip|Upturned nose|Upturned nostrils|Anteverted nose|Anteverted nostrils|Nostrils anteverted|Upturned nares|Upturned nasal tips
OBO:HP_0000464	Abnormality of the neck	biolink:OntologyClass	hp	SNOMEDCT_US:298390003|SNOMEDCT_US:40052002|UMLS:C0266623|UMLS:C0575167|UMLS:C4280628	An abnormality of the neck.	http://purl.obolibrary.org/obo/HP_0000464	hposlim_core	Abnormality of the neck|Deformity of the neck|Malformation of the neck|Anomaly of the neck
OBO:HP_0000465	Webbed neck	biolink:OntologyClass	hp	SNOMEDCT_US:11731003|UMLS:C0221217	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.	http://purl.obolibrary.org/obo/HP_0000465	hposlim_core	Neck webbing|Webbed neck|Pterygium colli
OBO:HP_0000466	Limited neck range of motion	biolink:OntologyClass	hp	UMLS:C1859212		http://purl.obolibrary.org/obo/HP_0000466		Limited neck range of motion|Limited cervical range of motion
OBO:HP_0000467	Neck muscle weakness	biolink:OntologyClass	hp	UMLS:C0240479	Decreased strength of the neck musculature.	http://purl.obolibrary.org/obo/HP_0000467		Floppy neck|Neck muscle weakness|Flaccid neck
OBO:HP_0000468	Increased adipose tissue around the neck	biolink:OntologyClass	hp	UMLS:C4025850	An increased amount of subcutaneous fat tissue around the neck.	http://purl.obolibrary.org/obo/HP_0000468		Increased fat around the neck
OBO:HP_0000470	Short neck	biolink:OntologyClass	hp	SNOMEDCT_US:95427009|UMLS:C0521525	Diminished length of the neck.	http://purl.obolibrary.org/obo/HP_0000470	hposlim_core	Decreased length of neck|Short neck|Cervical shortening|Decreased cervical height|Decreased cervical length
OBO:HP_0000471	Gastrointestinal angiodysplasia	biolink:OntologyClass	hp	UMLS:C0854242	Dysplasia affecting the vasculature of the gastrointestinal tract.	http://purl.obolibrary.org/obo/HP_0000471		GI angiodysplasia
OBO:HP_0000472	Long neck	biolink:OntologyClass	hp	UMLS:C1839816	Increased inferior-superior length of the neck.	http://purl.obolibrary.org/obo/HP_0000472	hposlim_core	Elongated neck|Increased length of neck|Long neck|Cervical elongation|Increased cervical length
OBO:HP_0000473	Torticollis	biolink:OntologyClass	hp	MSH:D014103|SNOMEDCT_US:270476009|SNOMEDCT_US:70070008|SNOMEDCT_US:74333002|UMLS:C0040485|UMLS:C0152116|UMLS:C0949445	Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head.	http://purl.obolibrary.org/obo/HP_0000473		Wry neck|Cervical dystonia|Loxia|Spasmodic torticollis
OBO:HP_0000474	Thickened nuchal skin fold	biolink:OntologyClass	hp	UMLS:C1836940	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).	http://purl.obolibrary.org/obo/HP_0000474	hposlim_core	Thickened skin folds of neck|Thickened skin over the neck|Excess nuchal skin|Increased nuchal fold thickness|Thickened nuchal skin
OBO:HP_0000475	Broad neck	biolink:OntologyClass	hp	UMLS:C1853638	Increased side-to-side width of the neck.	http://purl.obolibrary.org/obo/HP_0000475	hposlim_core	Broad neck|Increased width of neck|Wide neck|Thick neck
OBO:HP_0000476	Cystic hygroma	biolink:OntologyClass	hp	MSH:D018191|NCIT:C8965|SNOMEDCT_US:399882002|SNOMEDCT_US:40225001|SNOMEDCT_US:423984004|UMLS:C0206620	A cystic lymphatic lesion of the neck.	http://purl.obolibrary.org/obo/HP_0000476		Cystic hygroma of the neck
OBO:HP_0000478	Abnormality of the eye	biolink:OntologyClass	hp	MSH:D005124|MSH:D005128|SNOMEDCT_US:19416009|SNOMEDCT_US:371405004|SNOMEDCT_US:371409005|UMLS:C0015393|UMLS:C0015397	Any abnormality of the eye, including location, spacing, and intraocular abnormalities.	http://purl.obolibrary.org/obo/HP_0000478	hposlim_core	Abnormal eye|Abnormality of the eye|Eye disease
OBO:HP_0000479	Abnormal retinal morphology	biolink:OntologyClass	hp	MSH:D012164|SNOMEDCT_US:29555009|UMLS:C0035300|UMLS:C0035309	A structural abnormality of the retina.	http://purl.obolibrary.org/obo/HP_0000479	hposlim_core	Retina issue|Abnormal retina|Abnormality of the retina|Anomaly of the retina|Retinal disease
OBO:HP_0000480	Retinal coloboma	biolink:OntologyClass	hp	UMLS:C3540764	A notch or cleft of the retina.	http://purl.obolibrary.org/obo/HP_0000480	hposlim_core	Hole in the back of the eye
OBO:HP_0000481	Abnormal cornea morphology	biolink:OntologyClass	hp	UMLS:C1855670|UMLS:C4020889	Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber.	http://purl.obolibrary.org/obo/HP_0000481	hposlim_core	Abnormality of the cornea|Corneal abnormalities|Corneal abnormality|Cornela disease
OBO:HP_0000482	Microcornea	biolink:OntologyClass	hp	SNOMEDCT_US:26098002|UMLS:C0266544|UMLS:C1167713	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.	http://purl.obolibrary.org/obo/HP_0000482	hposlim_core	Cornea of eye less than 10mm in diameter|Decreased corneal diameter
OBO:HP_0000483	Astigmatism	biolink:OntologyClass	hp	MSH:D001251|SNOMEDCT_US:82649003|UMLS:C0004106	A type of astigmatism associated with abnormal curvatures on the anterior and/or posterior surface of the cornea.	http://purl.obolibrary.org/obo/HP_0000483	hposlim_core	Abnormal curving of the cornea or lens of the eye|Astigmatism
OBO:HP_0000484	Hyperopic astigmatism	biolink:OntologyClass	hp	SNOMEDCT_US:449734001|UMLS:C1847524	A form of astigmatism in which one meridian is hyperopic while the one at a right angle to it has no refractive error.	http://purl.obolibrary.org/obo/HP_0000484		
OBO:HP_0000485	Megalocornea	biolink:OntologyClass	hp	MSH:C562829|SNOMEDCT_US:204118005|SNOMEDCT_US:268158009|UMLS:C0344530|UMLS:C1167712	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.	http://purl.obolibrary.org/obo/HP_0000485	hposlim_core	Enlarged cornea|Anterior megalophthalmos|Increased corneal diameter|Macrocornea
OBO:HP_0000486	Strabismus	biolink:OntologyClass	hp	MSH:D013285|SNOMEDCT_US:128602000|SNOMEDCT_US:22066006|UMLS:C0038379	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.	http://purl.obolibrary.org/obo/HP_0000486	hposlim_core	Cross-eyed|Squint|Squint eyes
OBO:HP_0000487	obsolete Congenital strabismus	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0000487		
OBO:HP_0000488	Retinopathy	biolink:OntologyClass	hp	MSH:D012164|SNOMEDCT_US:29555009|UMLS:C0035309	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.	http://purl.obolibrary.org/obo/HP_0000488	hposlim_core	Noninflammatory retina disease
OBO:HP_0000489	obsolete Abnormality of globe location or size	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0000489		
OBO:HP_0000490	Deeply set eye	biolink:OntologyClass	hp	MSH:D015841|SNOMEDCT_US:246923005|SNOMEDCT_US:80093006|UMLS:C0014306|UMLS:C0423224	An eye that is more deeply recessed into the plane of the face than is typical.	http://purl.obolibrary.org/obo/HP_0000490	hposlim_core	Deep set eye|Deep-set eyes|Deeply set eye|Sunken eye|Enophthalmos|Ocular depression|Sunken eyes
OBO:HP_0000491	Keratitis	biolink:OntologyClass	hp	MSH:D007634|SNOMEDCT_US:5888003|UMLS:C0022568	Inflammation of the cornea.	http://purl.obolibrary.org/obo/HP_0000491	hposlim_core	Corneal inflammation
OBO:HP_0000492	Abnormal eyelid morphology	biolink:OntologyClass	hp	UMLS:C4021803	An abnormality of the eyelids.	http://purl.obolibrary.org/obo/HP_0000492	hposlim_core	Abnormality of the eyelid|Abnormality of the eyelids
OBO:HP_0000493	Abnormal foveal morphology	biolink:OntologyClass	hp	UMLS:C4025849	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.	http://purl.obolibrary.org/obo/HP_0000493		Abnormality of the fovea
OBO:HP_0000494	Downslanted palpebral fissures	biolink:OntologyClass	hp	SNOMEDCT_US:246800008|UMLS:C0423110	The palpebral fissure inclination is more than two standard deviations below the mean.	http://purl.obolibrary.org/obo/HP_0000494	hposlim_core	Downward slanting of the opening between the eyelids|Antimongoloid eye slant|Antimongoloid slant of palpebral fissures|Antimongoloid slanted palpebral fissures|Down slanting palpebral fissures|Down-slanted palpebral fissures|Down-slanting palpebral fissure|Down-slanting palpebral fissures|Downslanting palpebral fissure|Downslanting palpebral fissures|Downward slanted palpebral fissures|Downward slanting palpebral fissures|Downward-slanting palpebral fissures|Palpebral fissures down-slanted
OBO:HP_0000495	Recurrent corneal erosions	biolink:OntologyClass	hp	MSH:D003320|SNOMEDCT_US:2055003|SNOMEDCT_US:91514001|UMLS:C0010043|UMLS:C0155119|UMLS:C4020888	The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations.	http://purl.obolibrary.org/obo/HP_0000495		Recurrent breakdown of clear protective layer of eye|Corneal erosions, recurrent|Recurrent corneal ulceration|Epithelial corneal erosions|Recurrent corneal ulcerations
OBO:HP_0000496	Abnormality of eye movement	biolink:OntologyClass	hp	SNOMEDCT_US:103252009|UMLS:C0497202	An abnormality in voluntary or involuntary eye movements or their control.	http://purl.obolibrary.org/obo/HP_0000496	hposlim_core	Abnormal eye movement|Abnormal eye movements|Abnormality of eye movement|Eye movement abnormalities|Eye movement issue|Abnormal extraocular movement|Abnormal extraocular movements|Abnormal eye motility|Abnormal motility of the globe of the eye|Abnormal movement of the globe of the eye|Abnormal ocular movements|Ocular movement abnormalities|Oculomotor abnormalities
OBO:HP_0000497	Globe retraction and deviation on abduction	biolink:OntologyClass	hp	UMLS:C4025848		http://purl.obolibrary.org/obo/HP_0000497		
OBO:HP_0000498	Blepharitis	biolink:OntologyClass	hp	MSH:D001762|SNOMEDCT_US:231796003|SNOMEDCT_US:41446000|UMLS:C0005741|UMLS:C0339063	Inflammation of the eyelids.	http://purl.obolibrary.org/obo/HP_0000498	hposlim_core	Inflammation of eyelids|Cellulitis of eyelids
OBO:HP_0000499	Abnormal eyelash morphology	biolink:OntologyClass	hp	UMLS:C2675111	An abnormality of the eyelashes.	http://purl.obolibrary.org/obo/HP_0000499	hposlim_core	Abnormal eyelashes|Abnormality of the eyelashes|Eyelash abnormality
OBO:HP_0000501	Glaucoma	biolink:OntologyClass	hp	MSH:D005901|SNOMEDCT_US:23986001|UMLS:C0017601	Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.	http://purl.obolibrary.org/obo/HP_0000501	hposlim_core	
OBO:HP_0000502	Abnormal conjunctiva morphology	biolink:OntologyClass	hp	UMLS:C4025847	An abnormality of the conjunctiva.	http://purl.obolibrary.org/obo/HP_0000502	hposlim_core	
OBO:HP_0000503	Tortuosity of conjunctival vessels	biolink:OntologyClass	hp	UMLS:C1855391	The presence of an increased number of twists and turns of the conjunctival blood vessels.	http://purl.obolibrary.org/obo/HP_0000503		
OBO:HP_0000504	Abnormality of vision	biolink:OntologyClass	hp	UMLS:C4025846	Abnormality of eyesight (visual perception).	http://purl.obolibrary.org/obo/HP_0000504	hposlim_core	Abnormality of sight|Abnormality of vision|Vision issue
OBO:HP_0000505	Visual impairment	biolink:OntologyClass	hp	MSH:D014786|MSH:D015354|SNOMEDCT_US:246635007|SNOMEDCT_US:397540003|SNOMEDCT_US:7973008|UMLS:C0042798|UMLS:C3665347	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.	http://purl.obolibrary.org/obo/HP_0000505	hposlim_core	Impaired vision|Loss of eyesight|Poor vision|Visual impairment
OBO:HP_0000506	Telecanthus	biolink:OntologyClass	hp	MSH:C562941|SNOMEDCT_US:246803005|UMLS:C0423113	Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.	http://purl.obolibrary.org/obo/HP_0000506	hposlim_core	Corners of eye widely separated|Dystopia canthorum|Increased distance between medial canthi|Increased intercanthal distance
OBO:HP_0000508	Ptosis	biolink:OntologyClass	hp	MSH:D001763|SNOMEDCT_US:11934000|UMLS:C0005745	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).	http://purl.obolibrary.org/obo/HP_0000508	hposlim_core	Drooping upper eyelid|Eye drop|Blepharoptosis|Eyelid ptosis
OBO:HP_0000509	Conjunctivitis	biolink:OntologyClass	hp	MSH:D003231|SNOMEDCT_US:9826008|UMLS:C0009763|UMLS:C1864156	Inflammation of the conjunctiva.	http://purl.obolibrary.org/obo/HP_0000509	hposlim_core	Pink eye|Conjunctivitis, recurrent
OBO:HP_0000510	Rod-cone dystrophy	biolink:OntologyClass	hp	MSH:D012174|SNOMEDCT_US:28835009|UMLS:C0035334	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.	http://purl.obolibrary.org/obo/HP_0000510	hposlim_core	Retinitis pigmentosa|Rod cone dystrophy
OBO:HP_0000511	Vertical supranuclear gaze palsy	biolink:OntologyClass	hp	SNOMEDCT_US:246773002|UMLS:C0339652|UMLS:C1843369	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.	http://purl.obolibrary.org/obo/HP_0000511		Vertical gaze palsy
OBO:HP_0000512	Abnormal electroretinogram	biolink:OntologyClass	hp	SNOMEDCT_US:274524001|UMLS:C0476397	Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.	http://purl.obolibrary.org/obo/HP_0000512	hposlim_core	Abnormal ERG|Abnormal electroretinography|ERG abnormal
OBO:HP_0000514	Slow saccadic eye movements	biolink:OntologyClass	hp	SNOMEDCT_US:404686001|UMLS:C1321329	An abnormally slow velocity of the saccadic eye movements.	http://purl.obolibrary.org/obo/HP_0000514	hposlim_core	Slow eye movements|Slow saccades|Slow visual tracking
OBO:HP_0000517	Abnormality of the lens	biolink:OntologyClass	hp	MSH:D007905|SNOMEDCT_US:10810001|UMLS:C0023308|UMLS:C0549651	An abnormality of the lens.	http://purl.obolibrary.org/obo/HP_0000517		Abnormality of the lens|Lens issue|Lens disease
OBO:HP_0000518	Cataract	biolink:OntologyClass	hp	Fyler:4865|MSH:D002386|SNOMEDCT_US:128306009|SNOMEDCT_US:193570009|SNOMEDCT_US:247053007|UMLS:C0086543|UMLS:C1510497	A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.	http://purl.obolibrary.org/obo/HP_0000518	hposlim_core	Clouding of the lens of the eye|Cloudy lens|Cataracts|Lens opacities|Lens opacity
OBO:HP_0000519	Developmental cataract	biolink:OntologyClass	hp	SNOMEDCT_US:609587005|SNOMEDCT_US:79410001|UMLS:C0009691|UMLS:C3277059	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.	http://purl.obolibrary.org/obo/HP_0000519	hposlim_core	Clouding of the lens of the eye at birth|Bilateral congenital cataracts|Cataract, congenital|Congenital cataract|Congenital cataracts|Congenital cataracts, bilateral
OBO:HP_0000520	Proptosis	biolink:OntologyClass	hp	MSH:D005094|SNOMEDCT_US:18265008|UMLS:C0015300|UMLS:C1837760|UMLS:C1848490|UMLS:C1862425	An eye that is protruding anterior to the plane of the face to a greater extent than is typical.	http://purl.obolibrary.org/obo/HP_0000520	hposlim_core	Bulging eye|Eyeballs bulging out|Prominent eyes|Prominent globes|Protruding eyes|Anterior bulging of the globe|Anterior bulging of the globe of eye|Exophthalmos|Ocular proptosis|Protrusio bulbi
OBO:HP_0000522	Alacrima	biolink:OntologyClass	hp	MSH:C562827|SNOMEDCT_US:253215004|UMLS:C0344505	Absence of tear secretion.	http://purl.obolibrary.org/obo/HP_0000522	hposlim_core	Absence of tears in the eyes|Absent tear secretion|Absent lacrimal fluids
OBO:HP_0000523	Subcapsular cataract	biolink:OntologyClass	hp	SNOMEDCT_US:95723009|UMLS:C0235259	A cataract that affects the region of the lens directly beneath the capsule of the lens.	http://purl.obolibrary.org/obo/HP_0000523		Subcapsular cataracts|Subcapsular lenticular cataracts|Subcapsular opacities
OBO:HP_0000524	Conjunctival telangiectasia	biolink:OntologyClass	hp	SNOMEDCT_US:231870008|UMLS:C0239105	The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva.	http://purl.obolibrary.org/obo/HP_0000524	hposlim_core	Small dilated blood vessels near membrane covering front of eye and eyelids|Conjunctival telangiectases|Telangiectasia, conjunctival
OBO:HP_0000525	Abnormality iris morphology	biolink:OntologyClass	hp	UMLS:C4025845	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.	http://purl.obolibrary.org/obo/HP_0000525	hposlim_core	Abnormality of the iris
OBO:HP_0000526	Aniridia	biolink:OntologyClass	hp	MSH:D015783|SNOMEDCT_US:69278003|UMLS:C0003076	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.	http://purl.obolibrary.org/obo/HP_0000526	hposlim_core	Absent iris
OBO:HP_0000527	Long eyelashes	biolink:OntologyClass	hp	UMLS:C1853738	Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective).	http://purl.obolibrary.org/obo/HP_0000527	hposlim_core	Increased length of eyelashes|Long eyelashes|Unusually long eyelashes|Ciliary trichomegaly|Eyelash trichomegaly
OBO:HP_0000528	Anophthalmia	biolink:OntologyClass	hp	Fyler:4864|MSH:D000853|SNOMEDCT_US:204099004|SNOMEDCT_US:7183006|UMLS:C0003119	Absence of the globe or eyeball.	http://purl.obolibrary.org/obo/HP_0000528	hposlim_core	Absence of eyeballs|Failure of development of eyeball|Missing eyeball|No eyeball|Absence of globes of eyes|Anophthalmia, clinical|Clinical anophthalmia, unilateral/bilateral|Missing globe of eye|No globe of eye|Ocular absence
OBO:HP_0000529	Progressive visual loss	biolink:OntologyClass	hp	UMLS:C1839364|UMLS:C3277697	A reduction of previously attained ability to see.	http://purl.obolibrary.org/obo/HP_0000529	hposlim_core	Progressive loss of vision|Progressive vision loss|Progressive visual impairment|Slowly progressive visual loss|Vision loss, progressive|Visual loss, progressive|Loss of visual acuity|Progressive visual acuity loss|Decreased visual acuity, progressive
OBO:HP_0000531	Corneal crystals	biolink:OntologyClass	hp	UMLS:C1096610		http://purl.obolibrary.org/obo/HP_0000531		Corneal deposits
OBO:HP_0000532	Abnormal chorioretinal morphology	biolink:OntologyClass	hp	UMLS:C4025844	An abnormality of the choroid and retina.	http://purl.obolibrary.org/obo/HP_0000532		Chorioretinal abnormality
OBO:HP_0000533	Chorioretinal atrophy	biolink:OntologyClass	hp	SNOMEDCT_US:95686007|UMLS:C4048273	Atrophy of the choroid and retinal layers of the fundus.	http://purl.obolibrary.org/obo/HP_0000533		Chorioretinal thinning
OBO:HP_0000534	Abnormal eyebrow morphology	biolink:OntologyClass	hp	UMLS:C4011556	An abnormality of the eyebrow.	http://purl.obolibrary.org/obo/HP_0000534	hposlim_core	Abnormality of the eyebrow
OBO:HP_0000535	Sparse and thin eyebrow	biolink:OntologyClass	hp	UMLS:C1832446	Decreased density/number and/or decreased diameter of eyebrow hairs.	http://purl.obolibrary.org/obo/HP_0000535	hposlim_core	Sparse and thin eyebrow|Thin, sparse eyebrows
OBO:HP_0000537	Epicanthus inversus	biolink:OntologyClass	hp	SNOMEDCT_US:400956000|UMLS:C1303003	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.	http://purl.obolibrary.org/obo/HP_0000537	hposlim_core	
OBO:HP_0000538	Pseudopapilledema	biolink:OntologyClass	hp	MSH:C562401|SNOMEDCT_US:57138009|UMLS:C0155300	Apparent optic disc swelling in the absence of increased intracranial pressure.	http://purl.obolibrary.org/obo/HP_0000538	hposlim_core	
OBO:HP_0000539	Abnormality of refraction	biolink:OntologyClass	hp	UMLS:C4025843	An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina.	http://purl.obolibrary.org/obo/HP_0000539		
OBO:HP_0000540	Hypermetropia	biolink:OntologyClass	hp	MSH:D006956|SNOMEDCT_US:38101003|UMLS:C0020490	An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.	http://purl.obolibrary.org/obo/HP_0000540	hposlim_core	Farsightedness|Long-sightedness|Hyperopia
OBO:HP_0000541	Retinal detachment	biolink:OntologyClass	hp	MSH:D012163|SNOMEDCT_US:42059000|UMLS:C0035305	Separation of the inner layers of the retina (neural retina) from the pigment epithelium.	http://purl.obolibrary.org/obo/HP_0000541	hposlim_core	Detached retina|Retinal detachment
OBO:HP_0000542	Impaired ocular adduction	biolink:OntologyClass	hp	UMLS:C1846463	Reduced ability to move the eye in the direction of the nose.	http://purl.obolibrary.org/obo/HP_0000542		
OBO:HP_0000543	Optic disc pallor	biolink:OntologyClass	hp	SNOMEDCT_US:302200001|UMLS:C0554970	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.	http://purl.obolibrary.org/obo/HP_0000543	hposlim_core	Pale optic disc|Pale optic disk|Disc pallor|Optic disk pallor|Pale optic discs
OBO:HP_0000544	External ophthalmoplegia	biolink:OntologyClass	hp	MSH:D009886|MSH:D017246|SNOMEDCT_US:19373007|SNOMEDCT_US:46252003|UMLS:C0162292|UMLS:C0162674	Paralysis of the external ocular muscles.	http://purl.obolibrary.org/obo/HP_0000544		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
OBO:HP_0000545	Myopia	biolink:OntologyClass	hp	MSH:D009216|SNOMEDCT_US:57190000|UMLS:C0027092	An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.	http://purl.obolibrary.org/obo/HP_0000545	hposlim_core	Close sighted|Near sighted|Near sightedness|Nearsightedness
OBO:HP_0000546	Retinal degeneration	biolink:OntologyClass	hp	MSH:D012162|SNOMEDCT_US:95695004|UMLS:C0035304	A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells.	http://purl.obolibrary.org/obo/HP_0000546	hposlim_core	Retina degeneration
OBO:HP_0000547	obsolete Tapetoretinal degeneration	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0000547		Retinotapetal degeneration
OBO:HP_0000548	Cone/cone-rod dystrophy	biolink:OntologyClass	hp	MSH:D012174		http://purl.obolibrary.org/obo/HP_0000548		Cone rod dystrophy|Cone-rod retinal dystrophy
OBO:HP_0000549	Abnormal conjugate eye movement	biolink:OntologyClass	hp	UMLS:C1845274	Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object.	http://purl.obolibrary.org/obo/HP_0000549		Disconjugate eye movements
OBO:HP_0000550	Undetectable electroretinogram	biolink:OntologyClass	hp	UMLS:C1855685	Lack of any response to stimulation upon electroretinography.	http://purl.obolibrary.org/obo/HP_0000550		Abolished electroretinogram|Absent electroretinogram|Extinction of electroretinogram|Extinguished electroretinogram|No light-evoked response on electroretinogram|Undetectable ERG
OBO:HP_0000551	Color vision defect	biolink:OntologyClass	hp	MSH:D003117|SNOMEDCT_US:23289000|SNOMEDCT_US:367469000|UMLS:C0009398|UMLS:C0234629|UMLS:C3552853	An anomaly in the ability to discriminate between or recognize colors.	http://purl.obolibrary.org/obo/HP_0000551		Abnormal color vision|Abnormality of color vision|Colour vision defect|Color vision defect, severe|Color vision defects|Abnormality of colour vision|Loss in color vision
OBO:HP_0000552	Tritanomaly	biolink:OntologyClass	hp	MSH:D003117|SNOMEDCT_US:51886007|SNOMEDCT_US:85049009|UMLS:C0155017|UMLS:C1970167	Difficulty distinguishing between yellow and blue, possible related to dysfunction of the S photopigment.	http://purl.obolibrary.org/obo/HP_0000552		Blue yellow color blindness|Blue-yellow dyschromatopsia|Dyschromatopsia, blue-yellow|Blue/yellow color vision defect
OBO:HP_0000553	Abnormal uvea morphology	biolink:OntologyClass	hp	UMLS:C4025842	An abnormality of the uvea, the vascular layer of the eyeball.	http://purl.obolibrary.org/obo/HP_0000553		Abnormality of the uvea
OBO:HP_0000554	Uveitis	biolink:OntologyClass	hp	MSH:D014605|SNOMEDCT_US:128473001|UMLS:C0042164	Inflammation of one or all portions of the uveal tract.	http://purl.obolibrary.org/obo/HP_0000554	hposlim_core	
OBO:HP_0000555	Leukocoria	biolink:OntologyClass	hp	SNOMEDCT_US:1361009|UMLS:C0152458	An abnormal white reflection from the pupil rather than the usual black reflection.	http://purl.obolibrary.org/obo/HP_0000555		Leukokoria|White pupillary reflex
OBO:HP_0000556	Retinal dystrophy	biolink:OntologyClass	hp	MSH:D058499|SNOMEDCT_US:314407005|UMLS:C0854723	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.	http://purl.obolibrary.org/obo/HP_0000556		Breakdown of light-sensitive cells in back of eye
OBO:HP_0000557	Buphthalmos	biolink:OntologyClass	hp	MSH:D006871|UMLS:C4551507	Diffusely large eye (with megalocornea) associated with glaucoma.	http://purl.obolibrary.org/obo/HP_0000557	hposlim_core	Enlarged eyeball
OBO:HP_0000558	Rieger anomaly	biolink:OntologyClass	hp	MSH:C535679|SNOMEDCT_US:47507006|UMLS:C0265341	A congenital malformation of the anterior segment characterized by iridicorneal malformation, glaucoma, iris stroma hypoplasia, posterior embryotoxon, and corneal opacities.	http://purl.obolibrary.org/obo/HP_0000558		
OBO:HP_0000559	Corneal scarring	biolink:OntologyClass	hp	MSH:D065306|SNOMEDCT_US:95726001|UMLS:C0349702		http://purl.obolibrary.org/obo/HP_0000559		
OBO:HP_0000561	Absent eyelashes	biolink:OntologyClass	hp	UMLS:C1843005|UMLS:C4280626|UMLS:C4280627	Lack of eyelashes.	http://purl.obolibrary.org/obo/HP_0000561	hposlim_core	Absent eyelashes|Failure of development of eyelashes|Atrichia of eyelashes|Agenesis of eyelashes|Aplasia of eyelashes
OBO:HP_0000563	Keratoconus	biolink:OntologyClass	hp	MSH:D007640|SNOMEDCT_US:65636009|UMLS:C0022578	A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex.	http://purl.obolibrary.org/obo/HP_0000563	hposlim_core	Bulging cornea|Conical cornea
OBO:HP_0000564	Lacrimal duct atresia	biolink:OntologyClass	hp	SNOMEDCT_US:278530008|UMLS:C0344511	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.	http://purl.obolibrary.org/obo/HP_0000564		Unopened tear duct|Imperforate nasolacrimal ducts|Nasolacrimal duct atresia
OBO:HP_0000565	Esotropia	biolink:OntologyClass	hp	MSH:D004948|SNOMEDCT_US:16596007|UMLS:C0014877	A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.	http://purl.obolibrary.org/obo/HP_0000565	hposlim_core	Inward turning cross eyed
OBO:HP_0000567	Chorioretinal coloboma	biolink:OntologyClass	hp	SNOMEDCT_US:39302008|UMLS:C0240896	Absence of a region of the retina, retinal pigment epithelium, and choroid.	http://purl.obolibrary.org/obo/HP_0000567		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
OBO:HP_0000568	Microphthalmia	biolink:OntologyClass	hp	Fyler:4877|MSH:D008850|SNOMEDCT_US:204108000|SNOMEDCT_US:61142002|UMLS:C0026010|UMLS:C4280625|UMLS:C4280808	A developmental anomaly characterized by abnormal smallness of one or both eyes.	http://purl.obolibrary.org/obo/HP_0000568	hposlim_core	Decreased size of eyeball|Abnormally small eyeball|Decreased size of globe of eye|Abnormally small globe of eye|Microphthalmos|Nanophthalmos
OBO:HP_0000570	Abnormal saccadic eye movements	biolink:OntologyClass	hp	UMLS:C1842584|UMLS:C4025841	An abnormality of eye movement characterized by impairment of fast (saccadic) eye movements.	http://purl.obolibrary.org/obo/HP_0000570		Abnormality of saccadic eye movements|Impaired saccades
OBO:HP_0000571	Hypometric saccades	biolink:OntologyClass	hp	SNOMEDCT_US:246768008|UMLS:C0423082	Saccadic undershoot, i.e., a saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object.	http://purl.obolibrary.org/obo/HP_0000571		
OBO:HP_0000572	Visual loss	biolink:OntologyClass	hp	SNOMEDCT_US:7973008|UMLS:C3665386	Loss of visual acuity (implying that vision was better at a certain timepoint in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).	http://purl.obolibrary.org/obo/HP_0000572		Loss of vision|Vision loss|Visual loss
OBO:HP_0000573	Retinal hemorrhage	biolink:OntologyClass	hp	MSH:D012166|SNOMEDCT_US:28998008|UMLS:C0035317	Hemorrhage occurring within the retina.	http://purl.obolibrary.org/obo/HP_0000573	hposlim_core	Retinal bleeding|Retinal hemorrhages|Retinal haemorrhage
OBO:HP_0000574	Thick eyebrow	biolink:OntologyClass	hp	UMLS:C1853487	Increased density/number and/or increased diameter of eyebrow hairs.	http://purl.obolibrary.org/obo/HP_0000574	hposlim_core	Bushy eyebrows|Dense eyebrow|Heavy eyebrows|Prominent eyebrows|Thick eyebrow|Thick eyebrows|Hypertrichosis of the eyebrow|Hypertrichosis of the eyebrows
OBO:HP_0000575	Scotoma	biolink:OntologyClass	hp	MSH:D009898|MSH:D012607|SNOMEDCT_US:23388006|SNOMEDCT_US:81016008|UMLS:C0036454|UMLS:C0344233	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.	http://purl.obolibrary.org/obo/HP_0000575	hposlim_core	Blind spot
OBO:HP_0000576	Centrocecal scotoma	biolink:OntologyClass	hp	MSH:D012607|SNOMEDCT_US:33014001|UMLS:C0271196	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.	http://purl.obolibrary.org/obo/HP_0000576		
OBO:HP_0000577	Exotropia	biolink:OntologyClass	hp	MSH:D005099|SNOMEDCT_US:399054005|SNOMEDCT_US:399252000|UMLS:C0015310	A form of strabismus with one or both eyes deviated outward.	http://purl.obolibrary.org/obo/HP_0000577	hposlim_core	Outward facing eye ball
OBO:HP_0000579	Nasolacrimal duct obstruction	biolink:OntologyClass	hp	MSH:D007767|SNOMEDCT_US:231841004|SNOMEDCT_US:246865000|SNOMEDCT_US:314022009|SNOMEDCT_US:416920000|UMLS:C0022906|UMLS:C1281931	Blockage of the lacrimal duct.	http://purl.obolibrary.org/obo/HP_0000579	hposlim_core	Blocked tear duct|Lacrimal duct obstruction
OBO:HP_0000580	Pigmentary retinopathy	biolink:OntologyClass	hp	MSH:D012174|SNOMEDCT_US:28835009|UMLS:C0035334	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.	http://purl.obolibrary.org/obo/HP_0000580		Pigmentary retinal deposits|Retinal pigment clumping|Retinal pigmentary clumping|Retinal pigmentary degeneration
OBO:HP_0000581	Blepharophimosis	biolink:OntologyClass	hp	MSH:D016569|UMLS:C0005744	A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.	http://purl.obolibrary.org/obo/HP_0000581	hposlim_core	Narrow opening between the eyelids|Decreased width of palpebral fissure
OBO:HP_0000582	Upslanted palpebral fissure	biolink:OntologyClass	hp	SNOMEDCT_US:246799009|UMLS:C0423109	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.	http://purl.obolibrary.org/obo/HP_0000582	hposlim_core	Upward slanting of the opening between the eyelids|Mongoloid slant|Upslanting palpebral fissures|Upward slanted palpebral fissures|Upward slanting of palpebral fissures|Upward slanting palpebral fissures|Upslanted palpebral fissures
OBO:HP_0000584	Punctate corneal epithelial erosions	biolink:OntologyClass	hp	UMLS:C1832170		http://purl.obolibrary.org/obo/HP_0000584		
OBO:HP_0000585	Band keratopathy	biolink:OntologyClass	hp	MSH:C562399|SNOMEDCT_US:35055000|UMLS:C0155120	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.	http://purl.obolibrary.org/obo/HP_0000585	hposlim_core	Calcific band keratopathy
OBO:HP_0000586	Shallow orbits	biolink:OntologyClass	hp	UMLS:C1865244	Reduced depth of the orbits associated with prominent-appearing ocular globes.	http://purl.obolibrary.org/obo/HP_0000586		Decreased depth of eye sockets|Shallow eye sockets|Decreased depth of orbits|Small shallow orbits
OBO:HP_0000587	Abnormality of the optic nerve	biolink:OntologyClass	hp	UMLS:C0029131	Abnormality of the optic nerve.	http://purl.obolibrary.org/obo/HP_0000587	hposlim_core	Optic nerve issue|optic nerve abnormalities
OBO:HP_0000588	Optic nerve coloboma	biolink:OntologyClass	hp	MSH:C535970|SNOMEDCT_US:17541006|SNOMEDCT_US:44295002|UMLS:C0155299	A cleft of the optic nerve that extends inferiorly.	http://purl.obolibrary.org/obo/HP_0000588	hposlim_core	Coloboma of optic nerve|Optic disk coloboma
OBO:HP_0000589	Coloboma	biolink:OntologyClass	hp	Fyler:4311|MSH:D003103|SNOMEDCT_US:92828000|SNOMEDCT_US:93390002|UMLS:C0009363	A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa.	http://purl.obolibrary.org/obo/HP_0000589		Notched pupil|Ocular coloboma|Ocular colobomas
OBO:HP_0000590	Progressive external ophthalmoplegia	biolink:OntologyClass	hp	MSH:D017246|SNOMEDCT_US:46252003|UMLS:C0162674	Initial bilateral ptosis followed by limitation of eye movements in all directions and slowing of saccades.	http://purl.obolibrary.org/obo/HP_0000590		External ophthalmoplegia, progressive
OBO:HP_0000591	Abnormal sclera morphology	biolink:OntologyClass	hp	UMLS:C4025840	An abnormality of the sclera.	http://purl.obolibrary.org/obo/HP_0000591	hposlim_core	Abnormality of the outer white part of eyeball|Abnormality of the sclera
OBO:HP_0000592	Blue sclerae	biolink:OntologyClass	hp	SNOMEDCT_US:204164000|UMLS:C0542514	An abnormal bluish coloration of the sclera.	http://purl.obolibrary.org/obo/HP_0000592	hposlim_core	Blue outer white part of eyeball|Whites of eyes are a bluish-gray color|Blue sclera|Bluish sclerae
OBO:HP_0000593	Abnormal anterior chamber morphology	biolink:OntologyClass	hp	SNOMEDCT_US:204142009|UMLS:C3152182	Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris.	http://purl.obolibrary.org/obo/HP_0000593	hposlim_core	Abnormality of the anterior chamber|Anterior chamber anomalies|Ocular anterior chamber abnormality
OBO:HP_0000594	Shallow anterior chamber	biolink:OntologyClass	hp	SNOMEDCT_US:246986004|UMLS:C0423276	Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased.	http://purl.obolibrary.org/obo/HP_0000594		
OBO:HP_0000597	Ophthalmoparesis	biolink:OntologyClass	hp	MSH:D009886|UMLS:C0751401	Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement.	http://purl.obolibrary.org/obo/HP_0000597		Weakness of muscles controlling eye movement|Extraocular muscle palsy|Extraocular muscle paralysis|Weakness of extraocular eye movement
OBO:HP_0000598	Abnormality of the ear	biolink:OntologyClass	hp	SNOMEDCT_US:275259005|UMLS:C0266589	An abnormality of the ear.	http://purl.obolibrary.org/obo/HP_0000598	hposlim_core	Abnormality of the ear|Ear anomaly
OBO:HP_0000599	Abnormality of the frontal hairline	biolink:OntologyClass	hp	UMLS:C4025839	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.	http://purl.obolibrary.org/obo/HP_0000599		Abnormality of hairline at front of head|Abnormality of the frontal hairline
OBO:HP_0000600	Abnormality of the pharynx	biolink:OntologyClass	hp	UMLS:C4025838	An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly.	http://purl.obolibrary.org/obo/HP_0000600		
OBO:HP_0000601	Hypotelorism	biolink:OntologyClass	hp	SNOMEDCT_US:44593008|UMLS:C0424711	Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).	http://purl.obolibrary.org/obo/HP_0000601	hposlim_core	Abnormally close eyes|Closely spaced eyes|Decreased distance between eye sockets|Decreased distance between eyes|Decreased interpupillary distance|Decreased orbital separation|Ocular hypotelorism
OBO:HP_0000602	Ophthalmoplegia	biolink:OntologyClass	hp	MSH:D009886|SNOMEDCT_US:16110005|UMLS:C0029089	Paralysis of one or more extraocular muscles that are responsible for eye movements.	http://purl.obolibrary.org/obo/HP_0000602		Eye muscle paralysis|Paralysis of extraocular eye movement
OBO:HP_0000603	Central scotoma	biolink:OntologyClass	hp	MSH:D012607|SNOMEDCT_US:38950008|UMLS:C0152191|UMLS:C4280624	An area of depressed vision located at the point of fixation and that interferes with central vision.	http://purl.obolibrary.org/obo/HP_0000603	hposlim_core	Blind spot located at fixation point|Central blind spot|Central scotomata
OBO:HP_0000605	Supranuclear gaze palsy	biolink:OntologyClass	hp	SNOMEDCT_US:420675003|UMLS:C1720037	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.	http://purl.obolibrary.org/obo/HP_0000605		Supranuclear gaze paralysis
OBO:HP_0000606	Abnormality of the periorbital region	biolink:OntologyClass	hp	UMLS:C4025837	An abnormality of the region situated around the orbit of the eye.	http://purl.obolibrary.org/obo/HP_0000606		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
OBO:HP_0000607	Periorbital wrinkles	biolink:OntologyClass	hp	UMLS:C1844605		http://purl.obolibrary.org/obo/HP_0000607		Wrinkles around the eyes|Excess periorbital skin wrinkling|Periorbital rhytids|Periorbital wrinkling
OBO:HP_0000608	Macular degeneration	biolink:OntologyClass	hp	SNOMEDCT_US:422338006|UMLS:C0024437	A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.	http://purl.obolibrary.org/obo/HP_0000608		Pigmented macular degeneration
OBO:HP_0000609	Optic nerve hypoplasia	biolink:OntologyClass	hp	SNOMEDCT_US:95499004|UMLS:C0338502	Underdevelopment of the optic nerve.	http://purl.obolibrary.org/obo/HP_0000609		Hypoplastic optic nerves|Underdeveloped optic nerves
OBO:HP_0000610	Abnormal choroid morphology	biolink:OntologyClass	hp	MSH:D015862|UMLS:C0008521|UMLS:C4025836	Any structural abnormality of the choroid.	http://purl.obolibrary.org/obo/HP_0000610	hposlim_core	Abnormality of the choroid|Choroid disease
OBO:HP_0000611	obsolete Choroid coloboma	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0000611		
OBO:HP_0000612	Iris coloboma	biolink:OntologyClass	hp	UMLS:C0240063	A coloboma of the iris.	http://purl.obolibrary.org/obo/HP_0000612	hposlim_core	Cat eye|Coloboma of iris|Coloboma of the iris|Keyhole iris
OBO:HP_0000613	Photophobia	biolink:OntologyClass	hp	MSH:D020795|SNOMEDCT_US:246622003|SNOMEDCT_US:409668002|UMLS:C0085636|UMLS:C4020887	Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.	http://purl.obolibrary.org/obo/HP_0000613	hposlim_core	Extreme sensitivity of the eyes to light|Light hypersensitivity|Photodysphoria
OBO:HP_0000614	Abnormal nasolacrimal system morphology	biolink:OntologyClass	hp	UMLS:C4025835	An abnormality of the nasolacrimal drainage system, which serves as a conduit for tear flow from the external eye to the nasal cavity.	http://purl.obolibrary.org/obo/HP_0000614	hposlim_core	Abnormality of the nasolacrimal system
OBO:HP_0000615	Abnormal pupil morphology	biolink:OntologyClass	hp	SNOMEDCT_US:274093008|UMLS:C0154936	An abnormality of the pupil.	http://purl.obolibrary.org/obo/HP_0000615	hposlim_core	Abnormality of the pupil|Pupillary abnormalities|Pupillary abnormality|Abnormal pupillary morphology
OBO:HP_0000616	Miosis	biolink:OntologyClass	hp	MSH:D015877|SNOMEDCT_US:63251006|UMLS:C0026205	Abnormal (non-physiological) constriction of the pupil.	http://purl.obolibrary.org/obo/HP_0000616	hposlim_core	Constricted pupils|Pupillary constriction
OBO:HP_0000617	Abnormality of ocular smooth pursuit	biolink:OntologyClass	hp	UMLS:C1836393	An abnormality of eye movement characterized by impaired smooth-pursuit eye movements.	http://purl.obolibrary.org/obo/HP_0000617		Abnormal smooth pursuits|Disrupted ocular pursuit movements|Impaired smooth pursuit ocular movements|Irregular visual pursuit movements
OBO:HP_0000618	Blindness	biolink:OntologyClass	hp	Fyler:4866|MSH:D001766|SNOMEDCT_US:65956007|UMLS:C0271215|UMLS:C0456909	Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degress in radius around central fixation.	http://purl.obolibrary.org/obo/HP_0000618	hposlim_core	Blindness|Legal blindness|Total vision loss
OBO:HP_0000619	Impaired convergence	biolink:OntologyClass	hp	MSH:D015835|SNOMEDCT_US:194131002|UMLS:C0271379	Reduced ability to turn the eyes inward in order to focus on a nearby object.	http://purl.obolibrary.org/obo/HP_0000619		Convergence insufficiency
OBO:HP_0000620	Dacryocystitis	biolink:OntologyClass	hp	MSH:D003607|SNOMEDCT_US:85777005|UMLS:C0010930	Inflammation of the nasolacrimal sac.	http://purl.obolibrary.org/obo/HP_0000620		Dacrocystitis|Infection of the lacrimal sac
OBO:HP_0000621	Entropion	biolink:OntologyClass	hp	MSH:D004774|SNOMEDCT_US:33168009|UMLS:C0014390	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.	http://purl.obolibrary.org/obo/HP_0000621	hposlim_core	Eyelid folded in|Eyelid turned in|Inverted eyelid
OBO:HP_0000622	Blurred vision	biolink:OntologyClass	hp	SNOMEDCT_US:111516008|SNOMEDCT_US:246636008|UMLS:C0344232	Lack of sharpness of vision resulting in the inability to see fine detail.	http://purl.obolibrary.org/obo/HP_0000622	hposlim_core	Blurred vision
OBO:HP_0000623	Supranuclear ophthalmoplegia	biolink:OntologyClass	hp	UMLS:C1408507	A vertical gaze palsy with inability to direct the gaze of the eyes downwards.	http://purl.obolibrary.org/obo/HP_0000623	hposlim_core	
OBO:HP_0000625	Eyelid coloboma	biolink:OntologyClass	hp	SNOMEDCT_US:95202004|UMLS:C0521573	A short discontinuity of the margin of the lower or upper eyelid.	http://purl.obolibrary.org/obo/HP_0000625	hposlim_core	Cleft eyelid|Notched eyelid|Eyelid coloboma|Full thickness defect of the eyelid
OBO:HP_0000627	Posterior embryotoxon	biolink:OntologyClass	hp	SNOMEDCT_US:253228006|SNOMEDCT_US:392437005|UMLS:C0344531|UMLS:C0546967	A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe.	http://purl.obolibrary.org/obo/HP_0000627	hposlim_core	Embryotoxon
OBO:HP_0000629	Periorbital fullness	biolink:OntologyClass	hp	UMLS:C1858036	Increase in periorbital soft tissue.	http://purl.obolibrary.org/obo/HP_0000629		Puffiness around eye|Fullness around the eyes|Periorbital puffiness|Periorbital swelling|Puffy eyes|Swelling around the eyes
OBO:HP_0000630	Abnormal retinal artery morphology	biolink:OntologyClass	hp	UMLS:C4021802		http://purl.obolibrary.org/obo/HP_0000630		Abnormality of retinal arteries|Retinal arterial abnormality
OBO:HP_0000631	Retinal arterial tortuosity	biolink:OntologyClass	hp	SNOMEDCT_US:247123003|UMLS:C0423401	The presence of an increased number of twists and turns of the retinal artery.	http://purl.obolibrary.org/obo/HP_0000631	hposlim_core	Retinal artery tortuousity
OBO:HP_0000632	Lacrimation abnormality	biolink:OntologyClass	hp	UMLS:C4021801	Abnormality of tear production.	http://purl.obolibrary.org/obo/HP_0000632		Abnormality of tear production
OBO:HP_0000633	Decreased lacrimation	biolink:OntologyClass	hp	UMLS:C0235857	Abnormally decreased lacrimation, that is, reduced ability to produce tears.	http://purl.obolibrary.org/obo/HP_0000633		Decreased tear secretion
OBO:HP_0000634	Impaired ocular abduction	biolink:OntologyClass	hp	UMLS:C1846462	An impaired ability of the eye to move in the outward direction (towards the side of the head).	http://purl.obolibrary.org/obo/HP_0000634		
OBO:HP_0000635	Blue irides	biolink:OntologyClass	hp	SNOMEDCT_US:301952009|UMLS:C0578626	A markedly blue coloration of the iris.	http://purl.obolibrary.org/obo/HP_0000635		Blue eyes
OBO:HP_0000636	Upper eyelid coloboma	biolink:OntologyClass	hp	UMLS:C1863872	A short discontinuity of the margin of the upper eyelid.	http://purl.obolibrary.org/obo/HP_0000636		Cleft upper eyelid|Notched upper eyelid|Coloboma of the upper eyelid|Full thickness defect of the upper eyelid|Upper eyelid colobomas
OBO:HP_0000637	Long palpebral fissure	biolink:OntologyClass	hp	UMLS:C1849340	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.	http://purl.obolibrary.org/obo/HP_0000637	hposlim_core	Broad opening between the eyelids|Long opening between the eyelids|Wide opening between the eyelids|Broad palpebral fissure|Long palpebral fissures|Wide palpebral fissure|Wide palpebral fissures
OBO:HP_0000639	Nystagmus	biolink:OntologyClass	hp	MSH:D009759|SNOMEDCT_US:563001|UMLS:C0028738	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.	http://purl.obolibrary.org/obo/HP_0000639	hposlim_core	Involuntary, rapid, rhythmic eye movements
OBO:HP_0000640	Gaze-evoked nystagmus	biolink:OntologyClass	hp	MSH:D009760|SNOMEDCT_US:29356006|UMLS:C0271390	Nystagmus made apparent by looking to the right or to the left.	http://purl.obolibrary.org/obo/HP_0000640		
OBO:HP_0000641	Dysmetric saccades	biolink:OntologyClass	hp	UMLS:C1836392	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.	http://purl.obolibrary.org/obo/HP_0000641	hposlim_core	Uncoordinated eye movement|Dysmetric eye movements|Dysmetric eye saccades
OBO:HP_0000642	Red-green dyschromatopsia	biolink:OntologyClass	hp	MSH:D003117|SNOMEDCT_US:246674000|SNOMEDCT_US:77479002|UMLS:C0155016|UMLS:C1970168	Difficulty with discriminating red and green hues.	http://purl.obolibrary.org/obo/HP_0000642		Red green color blindness|Dyschromatopsia with red-green confusion|Red/green color vision defect
OBO:HP_0000643	Blepharospasm	biolink:OntologyClass	hp	MSH:D001764|SNOMEDCT_US:59026006|UMLS:C0005747	A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids.	http://purl.obolibrary.org/obo/HP_0000643		Eyelid spasm|Eyelid twitching|Involuntary closure of eyelid|Spontaneous closure of eyelid
OBO:HP_0000646	Amblyopia	biolink:OntologyClass	hp	MSH:D000550|SNOMEDCT_US:387742006|UMLS:C0002418	Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways.	http://purl.obolibrary.org/obo/HP_0000646	hposlim_core	Lazy eye|Wandering eye|Wandering eyes
OBO:HP_0000647	Sclerocornea	biolink:OntologyClass	hp	MSH:C565209|UMLS:C1853235	A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea.	http://purl.obolibrary.org/obo/HP_0000647	hposlim_core	Hardening of skin and connective tissue
OBO:HP_0000648	Optic atrophy	biolink:OntologyClass	hp	MSH:D009896|SNOMEDCT_US:76976005|UMLS:C0029124	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.	http://purl.obolibrary.org/obo/HP_0000648	hposlim_core	Optic nerve atrophy|Optic-nerve degeneration
OBO:HP_0000649	Abnormality of visual evoked potentials	biolink:OntologyClass	hp	SNOMEDCT_US:102968003|UMLS:C0522214	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.	http://purl.obolibrary.org/obo/HP_0000649	hposlim_core	Abnormal vision evoked potentials|Abnormal visual evoked potential|Abnormal visual evoked responses|Abnormal visual-evoked potentials|VEP abnormalities
OBO:HP_0000650	Abnormal amplitude of pattern reversal visual evoked potentials	biolink:OntologyClass	hp	UMLS:C4025834		http://purl.obolibrary.org/obo/HP_0000650		
OBO:HP_0000651	Diplopia	biolink:OntologyClass	hp	MSH:D004172|SNOMEDCT_US:24982008|UMLS:C0012569	Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.	http://purl.obolibrary.org/obo/HP_0000651	hposlim_core	Double vision
OBO:HP_0000652	Lower eyelid coloboma	biolink:OntologyClass	hp	UMLS:C1837826	A short discontinuity of the margin of the lower eyelid.	http://purl.obolibrary.org/obo/HP_0000652		Cleft lower eyelid|Notched lower eyelid|Coloboma of lower eyelid|Full thickness defect of the lower eyelid|Lower lid coloboma
OBO:HP_0000653	Sparse eyelashes	biolink:OntologyClass	hp	UMLS:C1843300	Decreased density/number of eyelashes.	http://purl.obolibrary.org/obo/HP_0000653	hposlim_core	Scant eyelashes|Scanty eyelashes|Sparse eyelashes|Thin eyelashes|Hypotrichosis of eyelashes|Partial absence of eyelashes
OBO:HP_0000654	Decreased light- and dark-adapted electroretinogram amplitude	biolink:OntologyClass	hp	UMLS:C1839025	Descreased amplitude of eletrical response upon electroretinography.	http://purl.obolibrary.org/obo/HP_0000654		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
OBO:HP_0000655	obsolete Vitreoretinal degeneration	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0000655		
OBO:HP_0000656	Ectropion	biolink:OntologyClass	hp	MSH:D004483|SNOMEDCT_US:127559009|SNOMEDCT_US:62909004|UMLS:C0013592	An outward turning (eversion) or rotation of the eyelid margin.	http://purl.obolibrary.org/obo/HP_0000656	hposlim_core	Eyelid folded out|Eyelid turned out|Everted eyelid
OBO:HP_0000657	Oculomotor apraxia	biolink:OntologyClass	hp	MSH:C537423|SNOMEDCT_US:193662007|UMLS:C3489733|UMLS:C4020886	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.	http://purl.obolibrary.org/obo/HP_0000657	hposlim_core	Ocular motor apraxia|Defective or absent horizontal voluntary eye movements
OBO:HP_0000658	Eyelid apraxia	biolink:OntologyClass	hp	SNOMEDCT_US:423142006|UMLS:C1142448		http://purl.obolibrary.org/obo/HP_0000658		Difficulty opening the eyelids
OBO:HP_0000659	Peters anomaly	biolink:OntologyClass	hp	MSH:C537884|SNOMEDCT_US:204153003|UMLS:C0344559	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.	http://purl.obolibrary.org/obo/HP_0000659	hposlim_core	
OBO:HP_0000660	Lipemia retinalis	biolink:OntologyClass	hp	SNOMEDCT_US:95692001|UMLS:C0339477	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.	http://purl.obolibrary.org/obo/HP_0000660		
OBO:HP_0000661	Palpebral fissure narrowing on adduction	biolink:OntologyClass	hp	UMLS:C1846465		http://purl.obolibrary.org/obo/HP_0000661		
OBO:HP_0000662	Nyctalopia	biolink:OntologyClass	hp	MSH:D009755|SNOMEDCT_US:65194006|UMLS:C0028077|UMLS:C4020885	Inability to see well at night or in poor light.	http://purl.obolibrary.org/obo/HP_0000662	hposlim_core	Night blindness|Night-blindness|Poor night vision|Difficulties with night vision
OBO:HP_0000664	Synophrys	biolink:OntologyClass	hp	SNOMEDCT_US:253207002|UMLS:C0431447	Meeting of the medial eyebrows in the midline.	http://purl.obolibrary.org/obo/HP_0000664	hposlim_core	Monobrow|Unibrow|Synophris
OBO:HP_0000666	Horizontal nystagmus	biolink:OntologyClass	hp	MSH:D009759|SNOMEDCT_US:81756001|UMLS:C0271385	Nystagmus consisting of horizontal to-and-fro eye movements.	http://purl.obolibrary.org/obo/HP_0000666	hposlim_core	Nystagmus, horizontal
OBO:HP_0000667	Phthisis bulbi	biolink:OntologyClass	hp	SNOMEDCT_US:4229009|UMLS:C0271007	Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease.	http://purl.obolibrary.org/obo/HP_0000667	hposlim_core	
OBO:HP_0000668	Hypodontia	biolink:OntologyClass	hp	MSH:D000848|SNOMEDCT_US:64969001|UMLS:C0020608	A developmental anomaly characterized by a reduced number of teeth, whereby up to 6 teeth are missing.	http://purl.obolibrary.org/obo/HP_0000668	hposlim_core	Failure of development of between one and six teeth|Missing between one and six teeth
OBO:HP_0000670	Carious teeth	biolink:OntologyClass	hp	MSH:D003731|SNOMEDCT_US:80967001|UMLS:C0011334|UMLS:C4280623	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.	http://purl.obolibrary.org/obo/HP_0000670	hposlim_core	Dental cavities|Tooth cavities|Tooth decay|Dental decay|Rotting teeth|Caries|Cariosity of teeth|Dental caries|Early dental caries|Frequent caries
OBO:HP_0000674	Anodontia	biolink:OntologyClass	hp	MSH:D000848|SNOMEDCT_US:16958000|SNOMEDCT_US:26624006|UMLS:C0399352|UMLS:C4280622	The congenital absence of all teeth.	http://purl.obolibrary.org/obo/HP_0000674		Failure of development of all teeth|Missing all teeth|Total absence of all teeth|Anodontia vera|Complete agenesis of all teeth|Dental agenesis|Complete anodontia|Total anodontia
OBO:HP_0000675	Macrodontia of permanent maxillary central incisor	biolink:OntologyClass	hp	UMLS:C1835095|UMLS:C4280263|UMLS:C4280620|UMLS:C4280621	Increased size of the maxillary central secondary incisor tooth.	http://purl.obolibrary.org/obo/HP_0000675		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
OBO:HP_0000676	Abnormality of the incisor	biolink:OntologyClass	hp	UMLS:C4025833	An abnormality of the Incisor tooth.	http://purl.obolibrary.org/obo/HP_0000676		
OBO:HP_0000677	Oligodontia	biolink:OntologyClass	hp	UMLS:C4082304|UMLS:C4280619	A developmental anomaly characterized by a reduced number of teeth, whereby more than 6 teeth are missing.	http://purl.obolibrary.org/obo/HP_0000677		Failure of development of more than six teeth|Missing more than six teeth|Number of teeth decreased by more than six|Partial anodontia
OBO:HP_0000678	Dental crowding	biolink:OntologyClass	hp	MSH:D008310|SNOMEDCT_US:12351004|SNOMEDCT_US:699222000|UMLS:C0040433|UMLS:C1317785|UMLS:C4280617|UMLS:C4280618	Overlapping teeth within an alveolar ridge.	http://purl.obolibrary.org/obo/HP_0000678	hposlim_core	Tooth size discrepancy|Crowded teeth|Dental crowding|Dental overcrowding|Overcrowding of teeth|Inadequate arch length for tooth size|Tooth mass arch size discrepancy
OBO:HP_0000679	Taurodontia	biolink:OntologyClass	hp	MSH:C536946|SNOMEDCT_US:51744007|UMLS:C0266039|UMLS:C4280616	Increased volume of dental pulp of permanent molar.	http://purl.obolibrary.org/obo/HP_0000679	hposlim_core	Taurodont|Taurodontism|Large elongated pulp chamber
OBO:HP_0000680	Delayed eruption of primary teeth	biolink:OntologyClass	hp	UMLS:C1849538	Delayed tooth eruption affecting the primary dentition.	http://purl.obolibrary.org/obo/HP_0000680		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
OBO:HP_0000682	Abnormality of dental enamel	biolink:OntologyClass	hp	UMLS:C4021800|UMLS:C4280262|UMLS:C4280615	An abnormality of the dental enamel.	http://purl.obolibrary.org/obo/HP_0000682	hposlim_core	Abnormal tooth enamel|Enamel abnormalities|Enamel abnormality|Defective tooth enamel|Malformation of dental enamel|Malformation of tooth enamel|Dystrophic tooth enamel
OBO:HP_0000683	Grayish enamel	biolink:OntologyClass	hp	UMLS:C1854783	A grey discoloration of the dental enamel.	http://purl.obolibrary.org/obo/HP_0000683		Gray colored tooth enamel|Grayish enamel|Greyish enamel|Gray tooth shade
OBO:HP_0000684	Delayed eruption of teeth	biolink:OntologyClass	hp	SNOMEDCT_US:5639000|UMLS:C0239174	Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.	http://purl.obolibrary.org/obo/HP_0000684	hposlim_core	Delayed eruption|Delayed eruption of teeth|Delayed teeth eruption|Delayed tooth eruption|Eruption, delayed|Late eruption of teeth|Late tooth eruption|Delayed dental development|Delayed dental eruption
OBO:HP_0000685	Hypoplasia of teeth	biolink:OntologyClass	hp	UMLS:C0235357|UMLS:C4280611	Developmental hypoplasia of teeth.	http://purl.obolibrary.org/obo/HP_0000685		Decreased size of teeth|Underdevelopment of teeth|Hypoplastic teeth
OBO:HP_0000687	Widely spaced teeth	biolink:OntologyClass	hp	UMLS:C1844813	Increased spaces (diastemata) between most of the teeth in the same dental arch.	http://purl.obolibrary.org/obo/HP_0000687	hposlim_core	Wide-spaced teeth|Widely spaced teeth|Widely-spaced teeth|Generalized dental spacing|Generalized spacing of teeth|Multiple diastemata
OBO:HP_0000689	Dental malocclusion	biolink:OntologyClass	hp	MSH:D008310|SNOMEDCT_US:47944004|SNOMEDCT_US:707598004|UMLS:C0024636|UMLS:C4280613|UMLS:C4280614	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.	http://purl.obolibrary.org/obo/HP_0000689		Bad bite|Malalignment of upper and lower dental arches|Misalignment of upper and lower dental arches|Bilateral crossbite|Bilateral crossbite malocclusion|Incorrect relation between upper and lower dental arches|Malocclusion|Malocclusion of teeth|Angle class 2 malocclusion|Angle class 3 malocclusion
OBO:HP_0000690	Agenesis of maxillary lateral incisor	biolink:OntologyClass	hp	UMLS:C1849950|UMLS:C4083046	Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor and maxillary lateral secondary incisor.	http://purl.obolibrary.org/obo/HP_0000690		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
OBO:HP_0000691	Microdontia	biolink:OntologyClass	hp	SNOMEDCT_US:32337007|UMLS:C0240340|UMLS:C4280611|UMLS:C4280612	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.	http://purl.obolibrary.org/obo/HP_0000691	hposlim_core	Decreased size of tooth|Small tooth|Decreased width of tooth|Hypotrophic tooth|Small teeth
OBO:HP_0000692	Misalignment of teeth	biolink:OntologyClass	hp	UMLS:C1852504|UMLS:C4280610	Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth.	http://purl.obolibrary.org/obo/HP_0000692		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
OBO:HP_0000694	Shell teeth	biolink:OntologyClass	hp	SNOMEDCT_US:67504007|UMLS:C2981132	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.	http://purl.obolibrary.org/obo/HP_0000694		Teeth with dentinal dysplasia|Teeth with thin dentin and large pulp chambers|Teeth with type iii dentinogenesis imperfecta
OBO:HP_0000695	Natal tooth	biolink:OntologyClass	hp	MSH:D009306|SNOMEDCT_US:21995002|SNOMEDCT_US:58748004|UMLS:C0027443	Erupted tooth or teeth at birth.	http://purl.obolibrary.org/obo/HP_0000695	hposlim_core	Born with teeth|Teeth present at birth|Natal teeth|Neonatal teeth
OBO:HP_0000696	Delayed eruption of permanent teeth	biolink:OntologyClass	hp	UMLS:C1849540	Delayed tooth eruption affecting the secondary dentition.	http://purl.obolibrary.org/obo/HP_0000696		Delayed eruption of adult teeth|Delayed eruption of permanent teeth|Delayed eruption of secondary dentition|Delayed eruption of secondary teeth|Delayed permanent dentition
OBO:HP_0000698	Conical tooth	biolink:OntologyClass	hp	SNOMEDCT_US:29553002|UMLS:C0266037|UMLS:C4012359	An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally.	http://purl.obolibrary.org/obo/HP_0000698	hposlim_core	Cone shaped tooth|Shark tooth|Peg shaped tooth|Pointed tooth|Conoid tooth|Peg shaped teeth|Peg tooth|Peg-shaped teeth|Conical teeth
OBO:HP_0000699	Diastema	biolink:OntologyClass	hp	MSH:D003970|SNOMEDCT_US:35591002|UMLS:C0011998	Increased space between two adjacent teeth in the same dental arch.	http://purl.obolibrary.org/obo/HP_0000699	hposlim_core	Gaps between teeth|Gap between teeth|Dental diastasis|Dental diastema|Diastasis of the teeth|Diastema of the teeth
OBO:HP_0000700	Periapical bone loss	biolink:OntologyClass	hp	MSH:D010484|MSH:D011842|SNOMEDCT_US:81407003|SNOMEDCT_US:89988002|UMLS:C0031029|UMLS:C0034543|UMLS:C1852169|UMLS:C4280609	Radiolucency (reflecting a reduction in the bony substance) around the apex (the tip of the dental root).	http://purl.obolibrary.org/obo/HP_0000700		Dark spot around tooth root on x-ray|Bone loss around tooth root|Periapical lesion|Periapical cyst|Periapical granuloma|Periapical radiolucencies|Periapical radiolucency
OBO:HP_0000703	Dentinogenesis imperfecta	biolink:OntologyClass	hp	MSH:D003811|SNOMEDCT_US:196286005|UMLS:C0011436	Developmental dysplasia of dentin.	http://purl.obolibrary.org/obo/HP_0000703	hposlim_core	
OBO:HP_0000704	Periodontitis	biolink:OntologyClass	hp	MSH:D005882|MSH:D010510|MSH:D010518|SNOMEDCT_US:18718003|SNOMEDCT_US:2556008|SNOMEDCT_US:41565005|UMLS:C0017563|UMLS:C0031090|UMLS:C0031099	Inflammation of the periodontium.	http://purl.obolibrary.org/obo/HP_0000704	hposlim_core	Gum disease|Periodontal disease|Pyorrhea
OBO:HP_0000705	Amelogenesis imperfecta	biolink:OntologyClass	hp	MSH:D000567|SNOMEDCT_US:78494001|UMLS:C0002452	A developmental dysplasia of the dental enamel.	http://purl.obolibrary.org/obo/HP_0000705	hposlim_core	
OBO:HP_0000706	Unerupted tooth	biolink:OntologyClass	hp	SNOMEDCT_US:109542004|UMLS:C1290587	The presence of one or more embedded tooth germs which have failed to erupt.	http://purl.obolibrary.org/obo/HP_0000706		Failure of eruption of tooth|Unerupted tooth|Unerupted dentition|Pseudo-anodontia|Pseudoanodontia
OBO:HP_0000707	Abnormality of the nervous system	biolink:OntologyClass	hp	MSH:D009421|SNOMEDCT_US:88425004|UMLS:C0497552	An abnormality of the nervous system.	http://purl.obolibrary.org/obo/HP_0000707		Brain and/or spinal cord issue|Abnormality of the nervous system|Neurologic abnormalities|Neurological abnormality
OBO:HP_0000708	Behavioral abnormality	biolink:OntologyClass	hp	MSH:D000066553|MSH:D001526|SNOMEDCT_US:25786006|SNOMEDCT_US:277843001|UMLS:C0004941|UMLS:C0233514	An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities.	http://purl.obolibrary.org/obo/HP_0000708		Behavioral abnormality|Behavioral changes|Behavioral disorders|Behavioral disturbances|Behavioral problems|Behavioral/psychiatric abnormalities|Behavioural/Psychiatric abnormality|Psychiatric disorders|Psychiatric disturbances|Behavioural abnormality|Behavioral symptoms
OBO:HP_0000709	Psychosis	biolink:OntologyClass	hp	MSH:D011618|SNOMEDCT_US:69322001|UMLS:C0033975	A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs.	http://purl.obolibrary.org/obo/HP_0000709		Psychosis
OBO:HP_0000710	Hyperorality	biolink:OntologyClass	hp	UMLS:C1838320	A tendency or compulsion to examine objects by mouth.	http://purl.obolibrary.org/obo/HP_0000710		Hyperoralia
OBO:HP_0000711	Restlessness	biolink:OntologyClass	hp	SNOMEDCT_US:162221009|UMLS:C3887611	A state of unease characterized by diffuse motor activity or motion subject to limited control, nonproductive or disorganized behavior, and subjective distress.	http://purl.obolibrary.org/obo/HP_0000711		Restlessness
OBO:HP_0000712	Emotional lability	biolink:OntologyClass	hp	SNOMEDCT_US:18963009|UMLS:C0085633	Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or out of proportion to events and circumstances.	http://purl.obolibrary.org/obo/HP_0000712		Emotional instability
OBO:HP_0000713	Agitation	biolink:OntologyClass	hp	SNOMEDCT_US:24199005|UMLS:C0085631	A state of exceeding restlessness and excessive motor activity associated with mental distress or a feeling of inner tension.	http://purl.obolibrary.org/obo/HP_0000713		
OBO:HP_0000716	Depressivity	biolink:OntologyClass	hp	MSH:D003866|SNOMEDCT_US:21061000119107|SNOMEDCT_US:35489007|SNOMEDCT_US:78667006|UMLS:C0011581	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.	http://purl.obolibrary.org/obo/HP_0000716		Depression|Depressive disorder
OBO:HP_0000717	Autism	biolink:OntologyClass	hp	MSH:D001321|SNOMEDCT_US:408856003|SNOMEDCT_US:408857007|SNOMEDCT_US:43614003|UMLS:C0004352	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).	http://purl.obolibrary.org/obo/HP_0000717		Autism
OBO:HP_0000718	Aggressive behavior	biolink:OntologyClass	hp	MSH:D000374|SNOMEDCT_US:248004009|SNOMEDCT_US:61372001|UMLS:C0001807|UMLS:C0424323|UMLS:C1457883	Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself.	http://purl.obolibrary.org/obo/HP_0000718		Aggression|Aggressive behavior|Aggressive behaviour|Aggressiveness|physical aggression
OBO:HP_0000719	Inappropriate behavior	biolink:OntologyClass	hp	SNOMEDCT_US:112082005|UMLS:C0233522		http://purl.obolibrary.org/obo/HP_0000719		Inappropriate behavior|Inappropriate behaviour
OBO:HP_0000720	Mood swings	biolink:OntologyClass	hp	SNOMEDCT_US:18963009|UMLS:C0085633	An exaggeration of emotional affects such as laughing crying, or yawning beyond what the person feels.	http://purl.obolibrary.org/obo/HP_0000720		Mood swings
OBO:HP_0000721	Lack of spontaneous play	biolink:OntologyClass	hp	UMLS:C1837650		http://purl.obolibrary.org/obo/HP_0000721		Lack of spontaneous play
OBO:HP_0000722	Obsessive-compulsive behavior	biolink:OntologyClass	hp	MSH:D003192|MSH:D009771|SNOMEDCT_US:12479006|SNOMEDCT_US:191736004|UMLS:C0028768|UMLS:C0600104	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).	http://purl.obolibrary.org/obo/HP_0000722		Obsessive compulsive behavior|Obsessive-compulsive behavior|Obsessive-compulsive behaviour|OCD|Obsessive compulsive disorder|Obsessive-compulsive disorder
OBO:HP_0000723	Restrictive behavior	biolink:OntologyClass	hp	UMLS:C2675334|UMLS:C4021799	Behavior characterized by an abnormal limitation to few interests and activities.	http://purl.obolibrary.org/obo/HP_0000723		Restricted behavior|Restrictive behaviour|Restrictive behavior, interests, and activities
OBO:HP_0000725	Psychotic episodes	biolink:OntologyClass	hp	UMLS:C0338614		http://purl.obolibrary.org/obo/HP_0000725		Psychotic episodes
OBO:HP_0000726	Dementia	biolink:OntologyClass	hp	MSH:D003704|SNOMEDCT_US:52448006|UMLS:C0497327	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.	http://purl.obolibrary.org/obo/HP_0000726		Dementia|Dementia, progressive|Progressive dementia
OBO:HP_0000727	Frontal lobe dementia	biolink:OntologyClass	hp	SNOMEDCT_US:278857002|UMLS:C0338455		http://purl.obolibrary.org/obo/HP_0000727		
OBO:HP_0000728	Impaired ability to form peer relationships	biolink:OntologyClass	hp	UMLS:C1837649		http://purl.obolibrary.org/obo/HP_0000728		
OBO:HP_0000729	Autistic behavior	biolink:OntologyClass	hp	MSH:D000067877|UMLS:C0856975|UMLS:C1510586	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.	http://purl.obolibrary.org/obo/HP_0000729		ASD|Autistic behaviour|Autism spectrum disorder|Autism spectrum disorders|Pervasive developmental disorder|Autistic behaviors
OBO:HP_0000732	Inflexible adherence to routines or rituals	biolink:OntologyClass	hp	UMLS:C1837653		http://purl.obolibrary.org/obo/HP_0000732		
OBO:HP_0000733	Stereotypy	biolink:OntologyClass	hp	MSH:D013239|MSH:D019956|SNOMEDCT_US:5507002|SNOMEDCT_US:84328007|UMLS:C0038271|UMLS:C0038273	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.	http://purl.obolibrary.org/obo/HP_0000733		Repetitive movements|Repetitive or self-injurious behavior|Stereotyped behavior|Stereotyped, repetitive behaviour|Stereotypic behavior|Stereotypic behaviors|Stereotypical motor behaviors|Sterotyped behavior|Stereotyped behaviors
OBO:HP_0000734	Disinhibition	biolink:OntologyClass	hp	SNOMEDCT_US:247977003|UMLS:C0424296	A lack of restraint manifested in several ways, including disregard for social conventions, impulsivity, and poor risk assessment.	http://purl.obolibrary.org/obo/HP_0000734		Disinhibition
OBO:HP_0000735	Impaired social interactions	biolink:OntologyClass	hp	MSH:D000067404|SNOMEDCT_US:88598008|UMLS:C0150080	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.	http://purl.obolibrary.org/obo/HP_0000735		Impaired social interaction|Impaired social interactions|Poor social interactions
OBO:HP_0000736	Short attention span	biolink:OntologyClass	hp	SNOMEDCT_US:247762003|UMLS:C0262630	Reduced attention span characterized by distractibility and impulsivity but not necessarily satisfying the diagnostic criteria for attention deficit hyperactivity disorder.	http://purl.obolibrary.org/obo/HP_0000736		Easily distracted|Poor attention span|Problem paying attention|Short attention span
OBO:HP_0000737	Irritability	biolink:OntologyClass	hp	UMLS:C2700617		http://purl.obolibrary.org/obo/HP_0000737		Irritability|Irritable
OBO:HP_0000738	Hallucinations	biolink:OntologyClass	hp	MSH:D006212|SNOMEDCT_US:7011001|UMLS:C0018524|UMLS:C0235153	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.	http://purl.obolibrary.org/obo/HP_0000738		Hallucination|Hallucinations|Sensory hallucination
OBO:HP_0000739	Anxiety	biolink:OntologyClass	hp	MSH:D001007|SNOMEDCT_US:48694002|UMLS:C0003467|UMLS:C4020884	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.	http://purl.obolibrary.org/obo/HP_0000739		Anxiety|Excessive, persistent worry and fear|Anxiety disease|Anxiousness
OBO:HP_0000740	Episodic paroxysmal anxiety	biolink:OntologyClass	hp	UMLS:C1854339	Recurrent attacks of severe anxiety, whose occurence is not restricted to any particular situation or set of circumstances and is therefore unpredictable.	http://purl.obolibrary.org/obo/HP_0000740		
OBO:HP_0000741	Apathy	biolink:OntologyClass	hp	MSH:D057565|SNOMEDCT_US:20602000|UMLS:C0085632		http://purl.obolibrary.org/obo/HP_0000741		Lack of feeling, emotion, interest
OBO:HP_0000742	Self-mutilation	biolink:OntologyClass	hp	MSH:D012652|SNOMEDCT_US:130968006|UMLS:C0036601		http://purl.obolibrary.org/obo/HP_0000742		Deliberate self-harm|Self mutilation|Self-mutilation
OBO:HP_0000743	Frontal release signs	biolink:OntologyClass	hp	UMLS:C1833297	Primitive reflexes traditionally held to be a sign of disorders that affect the frontal lobes.	http://purl.obolibrary.org/obo/HP_0000743		Frontal release reflexes
OBO:HP_0000744	Low frustration tolerance	biolink:OntologyClass	hp	UMLS:C0548883	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.	http://purl.obolibrary.org/obo/HP_0000744		
OBO:HP_0000745	Diminished motivation	biolink:OntologyClass	hp	SNOMEDCT_US:277521002|UMLS:C0456814	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.	http://purl.obolibrary.org/obo/HP_0000745		Diminished motivation|Lack of initiative|Lack of motivation|Lacking in initiative|Lacks initiative
OBO:HP_0000746	Delusions	biolink:OntologyClass	hp	MSH:D003702|SNOMEDCT_US:2073000|UMLS:C0011253	A belief that is pathological and is held despite evidence to the contrary.	http://purl.obolibrary.org/obo/HP_0000746		Delusions
OBO:HP_0000748	Inappropriate laughter	biolink:OntologyClass	hp	SNOMEDCT_US:247985007|UMLS:C0424304		http://purl.obolibrary.org/obo/HP_0000748		Inappropriate laughter
OBO:HP_0000749	Paroxysmal bursts of laughter	biolink:OntologyClass	hp	UMLS:C1839749		http://purl.obolibrary.org/obo/HP_0000749		Paroxysmal laughter
OBO:HP_0000750	Delayed speech and language development	biolink:OntologyClass	hp	MSH:D007805|SNOMEDCT_US:162294008|SNOMEDCT_US:229721007|SNOMEDCT_US:29164008|SNOMEDCT_US:62415009|UMLS:C0023012|UMLS:C0233715|UMLS:C0241210|UMLS:C0454644	A degree of language development that is significantly below the norm for a child of a specified age.	http://purl.obolibrary.org/obo/HP_0000750		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
OBO:HP_0000751	Personality changes	biolink:OntologyClass	hp	SNOMEDCT_US:102943000|SNOMEDCT_US:192073007|UMLS:C0240735	An abnormal shift in patterns of thinking, acting, or feeling.	http://purl.obolibrary.org/obo/HP_0000751		Personality change|Personality changes
OBO:HP_0000752	Hyperactivity	biolink:OntologyClass	hp	MSH:D006948|SNOMEDCT_US:44548000|UMLS:C0424295	Hyperactivity is a state of constantly being unusually or abnormally active, including in situations in which it is not appropriate.	http://purl.obolibrary.org/obo/HP_0000752		More active than typical|Hyperactive behavior
OBO:HP_0000753	Autism with high cognitive abilities	biolink:OntologyClass	hp	UMLS:C4025832		http://purl.obolibrary.org/obo/HP_0000753		
OBO:HP_0000756	Agoraphobia	biolink:OntologyClass	hp	MSH:D000379|SNOMEDCT_US:247830007|SNOMEDCT_US:70691001|UMLS:C0001818	A type of anxiety disorder characterized by avoidance of public places, especially where crowds gather.	http://purl.obolibrary.org/obo/HP_0000756		Fear of open spaces
OBO:HP_0000757	Lack of insight	biolink:OntologyClass	hp	SNOMEDCT_US:24340004|UMLS:C0233824		http://purl.obolibrary.org/obo/HP_0000757		Lack of insight
OBO:HP_0000758	Impaired use of nonverbal behaviors	biolink:OntologyClass	hp	UMLS:C4021798	Reduced ability to use nonverbal behavior for communication, such as eye-to-eye gaze, facial expression, body posture, and gestures.	http://purl.obolibrary.org/obo/HP_0000758		Impaired use of nonverbal behaviors|Impaired use of nonverbal behaviours
OBO:HP_0000759	Abnormal peripheral nervous system morphology	biolink:OntologyClass	hp	MSH:D010523|SNOMEDCT_US:302226006|SNOMEDCT_US:42658009|UMLS:C0031117|UMLS:C4025831	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).	http://purl.obolibrary.org/obo/HP_0000759		Abnormal peripheral nervous system structure|Peripheral nervous system disease
OBO:HP_0000762	Decreased nerve conduction velocity	biolink:OntologyClass	hp	UMLS:C1857640	A reduction in the speed at which electrical signals propagate along the axon of a neuron.	http://purl.obolibrary.org/obo/HP_0000762		Decreased NCV|Decreased nerve conduction velocities|Delayed nerve conduction velocity|Reduced nerve conduction velocities|Slow nerve conduction velocity|Slowed nerve conduction velocities
OBO:HP_0000763	Sensory neuropathy	biolink:OntologyClass	hp	SNOMEDCT_US:95662005|UMLS:C0151313	Peripheral neuropathy affecting the sensory nerves.	http://purl.obolibrary.org/obo/HP_0000763		Damage to nerves that sense feeling|Peripheral sensory neuropathy
OBO:HP_0000764	Peripheral axonal degeneration	biolink:OntologyClass	hp	UMLS:C4025830	Progressive deterioration of peripheral axons.	http://purl.obolibrary.org/obo/HP_0000764		
OBO:HP_0000765	Abnormal thorax morphology	biolink:OntologyClass	hp	UMLS:C4021797	Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).	http://purl.obolibrary.org/obo/HP_0000765		Abnormality of the chest|Abnormality of the thorax|Structural abnormality of the chest wall
OBO:HP_0000766	Abnormal sternum morphology	biolink:OntologyClass	hp	UMLS:C1860493	An anomaly of the sternum, also known as the breastbone.	http://purl.obolibrary.org/obo/HP_0000766	hposlim_core	Abnormality of the sternum|Sternal anomalies|Pectus carinatum or pectus excavatum|Pectus deformities|Pectus deformity|Pectus excavatum or carinatum|Pectus excavatum or pectus carinatum|Pectus excavatum/carinatum
OBO:HP_0000767	Pectus excavatum	biolink:OntologyClass	hp	SNOMEDCT_US:391987005|UMLS:C2051831	A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.	http://purl.obolibrary.org/obo/HP_0000767	hposlim_core	Funnel chest
OBO:HP_0000768	Pectus carinatum	biolink:OntologyClass	hp	MSH:D066166|SNOMEDCT_US:205101001|UMLS:C0158731	A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.	http://purl.obolibrary.org/obo/HP_0000768	hposlim_core	Pigeon chest
OBO:HP_0000769	Abnormality of the breast	biolink:OntologyClass	hp	UMLS:C4025829	An abnormality of the breast.	http://purl.obolibrary.org/obo/HP_0000769	hposlim_core	Abnormality of the breast
OBO:HP_0000771	Gynecomastia	biolink:OntologyClass	hp	MSH:D006177|SNOMEDCT_US:4754008|UMLS:C0018418	Abnormal development of large mammary glands in males resulting in breast enlargement.	http://purl.obolibrary.org/obo/HP_0000771	hposlim_core	Enlarged male breast|Gynaecomastia
OBO:HP_0000772	Abnormality of the ribs	biolink:OntologyClass	hp	UMLS:C1842083	An anomaly of the rib.	http://purl.obolibrary.org/obo/HP_0000772	hposlim_core	Abnormality of the ribs|Rib abnormalities|Rib anomalies
OBO:HP_0000773	Short ribs	biolink:OntologyClass	hp	SNOMEDCT_US:249696007|UMLS:C0426817	Reduced rib length.	http://purl.obolibrary.org/obo/HP_0000773		Short ribs|Hypoplastic ribs|Rib hypoplasia
OBO:HP_0000774	Narrow chest	biolink:OntologyClass	hp	SNOMEDCT_US:249671009|UMLS:C0426790	Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.	http://purl.obolibrary.org/obo/HP_0000774		Low chest circumference|Narrow chest|Narrow shoulders|Narrow thorax|Reduced anterior-posterior chest diameter
OBO:HP_0000775	Abnormality of the diaphragm	biolink:OntologyClass	hp	UMLS:C1848873	Any abnormality of the diaphragm, the sheet of skeletal muscle that separates the thoracic cavity from the abdominal cavity.	http://purl.obolibrary.org/obo/HP_0000775		Abnormality of the diaphragm|Diaphragm issues|Diaphragmatic defect
OBO:HP_0000776	Congenital diaphragmatic hernia	biolink:OntologyClass	hp	MSH:D065630|SNOMEDCT_US:17190001|UMLS:C0235833	The presence of a hernia of the diaphragm present at birth.	http://purl.obolibrary.org/obo/HP_0000776		Diaphragmatic hernia
OBO:HP_0000777	Abnormality of the thymus	biolink:OntologyClass	hp	SNOMEDCT_US:93297002|UMLS:C0262650|UMLS:C0685891	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.	http://purl.obolibrary.org/obo/HP_0000777		Abnormality of the thymus
OBO:HP_0000778	Hypoplasia of the thymus	biolink:OntologyClass	hp	SNOMEDCT_US:93297002|UMLS:C0685891|UMLS:C4228227	Underdevelopment of the thymus.	http://purl.obolibrary.org/obo/HP_0000778		Small thymus|Thymic hypoplasia|Thymus hypoplasia
OBO:HP_0000782	Abnormal scapula morphology	biolink:OntologyClass	hp	UMLS:C4025828	Any abnormality of the scapula, also known as the shoulder blade.	http://purl.obolibrary.org/obo/HP_0000782	hposlim_core	Abnormality of the shoulder blade
OBO:HP_0000786	Primary amenorrhea	biolink:OntologyClass	hp	SNOMEDCT_US:8913004|UMLS:C0232939		http://purl.obolibrary.org/obo/HP_0000786		
OBO:HP_0000787	Nephrolithiasis	biolink:OntologyClass	hp	MSH:D053040|UMLS:C0392525	The presence of calculi (stones) in the kidneys.	http://purl.obolibrary.org/obo/HP_0000787		Kidney stones|Renal calculi|Renal stones
OBO:HP_0000789	Infertility	biolink:OntologyClass	hp	MSH:D007246|SNOMEDCT_US:15296000|SNOMEDCT_US:8619003|UMLS:C0021359		http://purl.obolibrary.org/obo/HP_0000789		Infertility
OBO:HP_0000790	Hematuria	biolink:OntologyClass	hp	MSH:D006417|SNOMEDCT_US:34436003|SNOMEDCT_US:53298000|UMLS:C0018965	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).	http://purl.obolibrary.org/obo/HP_0000790		High urine occult blood|Blood in urine
OBO:HP_0000791	Uric acid nephrolithiasis	biolink:OntologyClass	hp	SNOMEDCT_US:267441009|UMLS:C0403719	The presence of uric acid-containing calculi (stones) in the kidneys.	http://purl.obolibrary.org/obo/HP_0000791		Uric acid stones|Uric acid urolithiasis
OBO:HP_0000793	Membranoproliferative glomerulonephritis	biolink:OntologyClass	hp	MSH:D015432|SNOMEDCT_US:80321008|UMLS:C0017662	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	http://purl.obolibrary.org/obo/HP_0000793		MPGN|Mesangiocapillary glomerulonephritis
OBO:HP_0000794	IgA deposition in the glomerulus	biolink:OntologyClass	hp	MSH:D005922|SNOMEDCT_US:236407003|SNOMEDCT_US:68779003|UMLS:C0017661|UMLS:C4025827	The presence of immunoglobulin A deposits in the glomerulus.	http://purl.obolibrary.org/obo/HP_0000794		IgA nephropathy
OBO:HP_0000795	Abnormality of the urethra	biolink:OntologyClass	hp	UMLS:C4025826	An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body.	http://purl.obolibrary.org/obo/HP_0000795		Urethra issue
OBO:HP_0000796	Urethral obstruction	biolink:OntologyClass	hp	MSH:D014524|SNOMEDCT_US:95588004|UMLS:C0041972	Obstruction of the flow of urine through the urethra.	http://purl.obolibrary.org/obo/HP_0000796		
OBO:HP_0000798	Oligospermia	biolink:OntologyClass	hp	MSH:D009845|UMLS:C0028960	Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen.	http://purl.obolibrary.org/obo/HP_0000798		Low sperm count
OBO:HP_0000799	Renal steatosis	biolink:OntologyClass	hp	UMLS:C4021796	Abnormal fat accumulation in the kidneys.	http://purl.obolibrary.org/obo/HP_0000799		Fatty kidney
OBO:HP_0000800	Cystic renal dysplasia	biolink:OntologyClass	hp	UMLS:C1834931		http://purl.obolibrary.org/obo/HP_0000800		Bilateral cystic dysplasia|Renal cystic dysplasia|Renal dysplasia, cystic
OBO:HP_0000802	Impotence	biolink:OntologyClass	hp	MSH:D007172|SNOMEDCT_US:397803000|UMLS:C0242350	Inability to develop or maintain an erection of the penis.	http://purl.obolibrary.org/obo/HP_0000802		Difficulty getting a full erection|Difficulty getting an erection
OBO:HP_0000803	Renal cortical cysts	biolink:OntologyClass	hp	UMLS:C1969144	Cysts of the cortex of the kidney.	http://purl.obolibrary.org/obo/HP_0000803		Cortical cysts
OBO:HP_0000804	Xanthine nephrolithiasis	biolink:OntologyClass	hp	UMLS:C1848431	The presence of xanthine-containing calculi (stones) in the kidneys.	http://purl.obolibrary.org/obo/HP_0000804		Urinary xanthine stones|Xanthine stones
OBO:HP_0000805	Enuresis	biolink:OntologyClass	hp	MSH:D004775|SNOMEDCT_US:8009008|UMLS:C0014394	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.	http://purl.obolibrary.org/obo/HP_0000805		
OBO:HP_0000807	Glandular hypospadias	biolink:OntologyClass	hp	SNOMEDCT_US:204891000|SNOMEDCT_US:429631000124104|UMLS:C0452168		http://purl.obolibrary.org/obo/HP_0000807		
OBO:HP_0000808	Penoscrotal hypospadias	biolink:OntologyClass	hp	SNOMEDCT_US:204889008|UMLS:C0452147	A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum.	http://purl.obolibrary.org/obo/HP_0000808		
OBO:HP_0000809	Urinary tract atresia	biolink:OntologyClass	hp	UMLS:C1389003	Congenital absence of the normal opening of a structure of the urinary tract.	http://purl.obolibrary.org/obo/HP_0000809		
OBO:HP_0000811	Abnormal external genitalia	biolink:OntologyClass	hp	UMLS:C4025825		http://purl.obolibrary.org/obo/HP_0000811		Abnormal external genitalia
OBO:HP_0000812	Abnormal internal genitalia	biolink:OntologyClass	hp	UMLS:C4025824	An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male).	http://purl.obolibrary.org/obo/HP_0000812		Abnormal internal genitalia
OBO:HP_0000813	Bicornuate uterus	biolink:OntologyClass	hp	SNOMEDCT_US:31401003|UMLS:C0266387	The presence of a bicornuate uterus.	http://purl.obolibrary.org/obo/HP_0000813		Heart shaped uterus|Heart-shaped uterus|Uterus bicornis
OBO:HP_0000815	Hypergonadotropic hypogonadism	biolink:OntologyClass	hp	MSH:D007006|SNOMEDCT_US:370999003|UMLS:C0948896	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.	http://purl.obolibrary.org/obo/HP_0000815		Hypergonadotrophic hypogonadism|Primary hypogonadism
OBO:HP_0000816	Abnormality of Krebs cycle metabolism	biolink:OntologyClass	hp	UMLS:C4021795	An abnormality of the tricarboxylic acid cycle.	http://purl.obolibrary.org/obo/HP_0000816		Abnormality of citric acid cycle|Abnormality of the tricarboxylic cycle
OBO:HP_0000817	Poor eye contact	biolink:OntologyClass	hp	SNOMEDCT_US:412786000|UMLS:C1445953	Difficulty in looking at another person in the eye.	http://purl.obolibrary.org/obo/HP_0000817		Poor eye contact
OBO:HP_0000818	Abnormality of the endocrine system	biolink:OntologyClass	hp	MSH:D004700|SNOMEDCT_US:362969004|UMLS:C0014130|UMLS:C4025823	An abnormality of the endocrine system.	http://purl.obolibrary.org/obo/HP_0000818		Endocrine system disease
OBO:HP_0000819	Diabetes mellitus	biolink:OntologyClass	hp	MSH:D003920|SNOMEDCT_US:73211009|UMLS:C0011849	A group of abnormalities characterized by hyperglycemia and glucose intolerance.	http://purl.obolibrary.org/obo/HP_0000819		
OBO:HP_0000820	Abnormality of the thyroid gland	biolink:OntologyClass	hp	MSH:D013959|SNOMEDCT_US:14304000|UMLS:C0040128	An abnormality of the thyroid gland.	http://purl.obolibrary.org/obo/HP_0000820		Abnormality of the thyroid gland|Thyroid abnormality|Thyroid disease
OBO:HP_0000821	Hypothyroidism	biolink:OntologyClass	hp	MSH:D007037|SNOMEDCT_US:40930008|UMLS:C0020676	Deficiency of thyroid hormone.	http://purl.obolibrary.org/obo/HP_0000821		Underactive thyroid|Low T4
OBO:HP_0000822	Hypertension	biolink:OntologyClass	hp	MSH:D006973|SNOMEDCT_US:24184005|SNOMEDCT_US:38341003|UMLS:C0020538|UMLS:C0497247	The presence of chronic increased pressure in the systemic arterial system.	http://purl.obolibrary.org/obo/HP_0000822		High blood pressure|Arterial hypertension|Systemic hypertension
OBO:HP_0000823	Delayed puberty	biolink:OntologyClass	hp	MSH:D011628|SNOMEDCT_US:123526007|SNOMEDCT_US:400003000|UMLS:C0034012	Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.	http://purl.obolibrary.org/obo/HP_0000823		Delayed pubertal development|Delayed pubertal growth|Delayed puberty|Pubertal delay
OBO:HP_0000824	Decreased response to growth hormone stimuation test	biolink:OntologyClass	hp	SNOMEDCT_US:2109003|UMLS:C3714796	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.	http://purl.obolibrary.org/obo/HP_0000824		Growth hormone deficiency|Somatotropin deficiency
OBO:HP_0000825	Hyperinsulinemic hypoglycemia	biolink:OntologyClass	hp	UMLS:C1864903	An increased concentration of insulin combined with a decreased concentration of glucose in the blood.	http://purl.obolibrary.org/obo/HP_0000825		Hyperinsulinaemic hypoglycaemia|Hyperinsulinemia hypoglycemia
OBO:HP_0000826	Precocious puberty	biolink:OntologyClass	hp	MSH:D011629|SNOMEDCT_US:123527003|SNOMEDCT_US:400179000|UMLS:C0034013	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.	http://purl.obolibrary.org/obo/HP_0000826		Early onset of puberty|Early puberty
OBO:HP_0000828	Abnormality of the parathyroid gland	biolink:OntologyClass	hp	MSH:D010279|SNOMEDCT_US:73132005|UMLS:C0030517|UMLS:C4025822	An abnormality of the parathyroid gland.	http://purl.obolibrary.org/obo/HP_0000828		Parathyroid disease
OBO:HP_0000829	Hypoparathyroidism	biolink:OntologyClass	hp	MSH:D007011|SNOMEDCT_US:36976004|UMLS:C0020626	A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia.	http://purl.obolibrary.org/obo/HP_0000829		Decreased parathyroid hormone secretion|Low parathyroid hormone
OBO:HP_0000830	Anterior hypopituitarism	biolink:OntologyClass	hp	UMLS:C4025821	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.	http://purl.obolibrary.org/obo/HP_0000830		
OBO:HP_0000831	Insulin-resistant diabetes mellitus	biolink:OntologyClass	hp	UMLS:C0854110	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.	http://purl.obolibrary.org/obo/HP_0000831		Insulin resistant diabetes|Insulin-resistant diabetes|Insulin resistant diabetes mellitus
OBO:HP_0000832	Primary hypothyroidism	biolink:OntologyClass	hp	SNOMEDCT_US:111566002|UMLS:C0700502	A type of hypothyroidism that results from a defect in the thyroid gland.	http://purl.obolibrary.org/obo/HP_0000832		
OBO:HP_0000833	obsolete Glucose intolerance	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0000833		
OBO:HP_0000834	Abnormality of the adrenal glands	biolink:OntologyClass	hp	MSH:D000307|SNOMEDCT_US:30171000|UMLS:C0001621|UMLS:C4021794	Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys.	http://purl.obolibrary.org/obo/HP_0000834		Adrenal abnormalities|Adrenal gland disease
OBO:HP_0000835	Adrenal hypoplasia	biolink:OntologyClass	hp	MSH:C538429|SNOMEDCT_US:237774001|UMLS:C0342491|UMLS:C1846223	Developmental hypoplasia of the adrenal glands.	http://purl.obolibrary.org/obo/HP_0000835		Small adrenal glands|Adrenal gland hypoplasia|Hypoplastic adrenal glands|Underdeveloped adrenal glands
OBO:HP_0000836	Hyperthyroidism	biolink:OntologyClass	hp	MSH:D006980|SNOMEDCT_US:34486009|UMLS:C0020550	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).	http://purl.obolibrary.org/obo/HP_0000836		Overactive thyroid
OBO:HP_0000837	Increased circulating gonadotropin level	biolink:OntologyClass	hp	UMLS:C1862265	Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland.	http://purl.obolibrary.org/obo/HP_0000837		Elevated gonadotropins|Elevated serum gonadotropins|Gonadotropin excess|Increased circulating gonadotropin level
OBO:HP_0000839	Pituitary dwarfism	biolink:OntologyClass	hp	MSH:D004393|SNOMEDCT_US:367460001|SNOMEDCT_US:7530009|UMLS:C0013338	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.	http://purl.obolibrary.org/obo/HP_0000839		
OBO:HP_0000840	Adrenogenital syndrome	biolink:OntologyClass	hp	MSH:D047808|SNOMEDCT_US:237751000|SNOMEDCT_US:267395000|SNOMEDCT_US:271077003|UMLS:C0302280	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.	http://purl.obolibrary.org/obo/HP_0000840		
OBO:HP_0000841	Hyperactive renin-angiotensin system	biolink:OntologyClass	hp	UMLS:C1846345|UMLS:C3150267	An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms.	http://purl.obolibrary.org/obo/HP_0000841		Increased plasma renin activity
OBO:HP_0000842	Hyperinsulinemia	biolink:OntologyClass	hp	MSH:D006946|SNOMEDCT_US:83469008|UMLS:C0020459	An increased concentration of insulin in the blood.	http://purl.obolibrary.org/obo/HP_0000842		Elevated insulin level
OBO:HP_0000843	Hyperparathyroidism	biolink:OntologyClass	hp	MSH:D006961|SNOMEDCT_US:66999008|UMLS:C0020502	Excessive production of parathyroid hormone (PTH) by the parathyroid glands.	http://purl.obolibrary.org/obo/HP_0000843		Elevated blood parathyroid hormone level
OBO:HP_0000845	Growth hormone excess	biolink:OntologyClass	hp	MSH:C531600|MSH:D000172|SNOMEDCT_US:74107003|UMLS:C0001206|UMLS:C0235986	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.	http://purl.obolibrary.org/obo/HP_0000845		Growth hormone excess|Acral hypertrophy|Acromegalic growth|Acromegaly|Somatotropin excess
OBO:HP_0000846	Adrenal insufficiency	biolink:OntologyClass	hp	MSH:D000309|SNOMEDCT_US:111563005|SNOMEDCT_US:237785004|SNOMEDCT_US:386584007|UMLS:C0001623	Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands.	http://purl.obolibrary.org/obo/HP_0000846		Hypoadrenalism
OBO:HP_0000847	Abnormality of renin-angiotensin system	biolink:OntologyClass	hp	UMLS:C4021793	An abnormality of the renin-angiotensin system.	http://purl.obolibrary.org/obo/HP_0000847		Abnormality of the renin-aldosterone axis
OBO:HP_0000848	Increased circulating renin level	biolink:OntologyClass	hp	UMLS:C0240783	An increased level of renin in the blood.	http://purl.obolibrary.org/obo/HP_0000848		Elevated blood renin level|Elevated plasma renin|Hyperreninemia|Increased plasma renin|Increased serum renin
OBO:HP_0000849	Adrenocortical abnormality	biolink:OntologyClass	hp	UMLS:C4025820		http://purl.obolibrary.org/obo/HP_0000849		
OBO:HP_0000851	Congenital hypothyroidism	biolink:OntologyClass	hp	MSH:D003409|SNOMEDCT_US:190268003|SNOMEDCT_US:217710005|UMLS:C0010308	A type of hypothyroidism with congenital onset.	http://purl.obolibrary.org/obo/HP_0000851		Underactive thyroid gland from birth|Hypothyroidism, congenital
OBO:HP_0000852	Pseudohypoparathyroidism	biolink:OntologyClass	hp	MSH:D011547|SNOMEDCT_US:58976002|UMLS:C0033806	A condition characterized by resistance to the action of parathyroid hormone, in which there is hypocalcemia, hyperphosphatemia, and (appropriately) high levels of parathyroid hormone.	http://purl.obolibrary.org/obo/HP_0000852		
OBO:HP_0000853	Goiter	biolink:OntologyClass	hp	MSH:D006042|SNOMEDCT_US:3716002|UMLS:C0018021	An enlargement of the thyroid gland.	http://purl.obolibrary.org/obo/HP_0000853		Enlarged thyroid gland in neck|Goitre|Thyroid goiter
OBO:HP_0000854	Thyroid adenoma	biolink:OntologyClass	hp	MSH:D013964|NCIT:C2855|SNOMEDCT_US:255033000|SNOMEDCT_US:255034006|UMLS:C0151468	The presence of a adenoma of the thyroid gland.	http://purl.obolibrary.org/obo/HP_0000854		
OBO:HP_0000855	Insulin resistance	biolink:OntologyClass	hp	MSH:D007333|SNOMEDCT_US:48606007|UMLS:C0021655	Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels.	http://purl.obolibrary.org/obo/HP_0000855		Body fails to respond to insulin
OBO:HP_0000857	Neonatal insulin-dependent diabetes mellitus	biolink:OntologyClass	hp	UMLS:C3278636		http://purl.obolibrary.org/obo/HP_0000857		
OBO:HP_0000858	Irregular menstruation	biolink:OntologyClass	hp	SNOMEDCT_US:80182007|UMLS:C0156404	Abnormally high variation in the amount of time between periods.	http://purl.obolibrary.org/obo/HP_0000858		Menstrual irregularity|Irregular menses|Menstrual irregularities
OBO:HP_0000859	Hyperaldosteronism	biolink:OntologyClass	hp	MSH:D006929|SNOMEDCT_US:88213004|UMLS:C0020428	Overproduction of the mineralocorticoid aldosterone by the adrenal cortex.	http://purl.obolibrary.org/obo/HP_0000859		Elevated plasma aldosterone|Increased aldosterone|Increased aldosterone production|Mineralocorticoid excess
OBO:HP_0000860	Parathyroid hypoplasia	biolink:OntologyClass	hp	UMLS:C1389851	Developmental hypoplasia of the parathyroid gland.	http://purl.obolibrary.org/obo/HP_0000860		Small parathyroid glands|Underdeveloped parathyroid glands
OBO:HP_0000863	Central diabetes insipidus	biolink:OntologyClass	hp	MSH:D020790|SNOMEDCT_US:45369008|UMLS:C0687720	A form of diabetes insipidus related to a failure of vasopressin (AVP) release from the hypothalamus.	http://purl.obolibrary.org/obo/HP_0000863		Neurohypophyseal diabetes insipidus
OBO:HP_0000864	Abnormality of the hypothalamus-pituitary axis	biolink:OntologyClass	hp	UMLS:C4025819	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.	http://purl.obolibrary.org/obo/HP_0000864		
OBO:HP_0000866	Euthyroid multinodular goiter	biolink:OntologyClass	hp	UMLS:C1846034		http://purl.obolibrary.org/obo/HP_0000866		Euthyroid multinodular goitre
OBO:HP_0000867	Secondary hyperparathyroidism	biolink:OntologyClass	hp	MSH:D006962|SNOMEDCT_US:91478007|UMLS:C0020503	Secondary hyperparathyroidism refers to the production of higher than normal levels of parathyroid hormone in the presence of hypocalcemia.	http://purl.obolibrary.org/obo/HP_0000867		
OBO:HP_0000868	Decreased fertility in females	biolink:OntologyClass	hp	UMLS:C0151639		http://purl.obolibrary.org/obo/HP_0000868		Decreased fertility in females|Reduced fertility in females
OBO:HP_0000869	Secondary amenorrhea	biolink:OntologyClass	hp	SNOMEDCT_US:86030004|UMLS:C0232940		http://purl.obolibrary.org/obo/HP_0000869		Previous menstrual periods stop
OBO:HP_0000870	Increased circulating prolactin concentration	biolink:OntologyClass	hp	MSH:D006966|SNOMEDCT_US:237662005|UMLS:C0020514	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.	http://purl.obolibrary.org/obo/HP_0000870		Hyperprolactinaemia|Hyperprolactinemia|Prolactin excess
OBO:HP_0000871	Panhypopituitarism	biolink:OntologyClass	hp	MSH:C580003|SNOMEDCT_US:32390006|UMLS:C0242343	A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin).	http://purl.obolibrary.org/obo/HP_0000871		
OBO:HP_0000872	Hashimoto thyroiditis	biolink:OntologyClass	hp	MSH:D050031|SNOMEDCT_US:21983002|UMLS:C0677607	A chronic, autoimmune type of thyroiditis associated with hypothyroidism.	http://purl.obolibrary.org/obo/HP_0000872		Chronic lymphocytic thyroiditis|Hashimoto's thyroiditis
OBO:HP_0000873	Diabetes insipidus	biolink:OntologyClass	hp	MSH:D003919|SNOMEDCT_US:15771004|UMLS:C0011848	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).	http://purl.obolibrary.org/obo/HP_0000873		
OBO:HP_0000875	Episodic hypertension	biolink:OntologyClass	hp	UMLS:C1857175		http://purl.obolibrary.org/obo/HP_0000875		Intermittent high blood pressure
OBO:HP_0000876	Oligomenorrhea	biolink:OntologyClass	hp	MSH:D009839|SNOMEDCT_US:52073004|UMLS:C0028949	Infrequent menses (less than 6 per year or more than 35 days between cycles).	http://purl.obolibrary.org/obo/HP_0000876		Light or infrequent menstrual periods
OBO:HP_0000877	Insulin-resistant diabetes mellitus at puberty	biolink:OntologyClass	hp	UMLS:C1837792		http://purl.obolibrary.org/obo/HP_0000877		Insulin-resistant diabetes mellitus at puberty
OBO:HP_0000878	11 pairs of ribs	biolink:OntologyClass	hp	UMLS:C1839731	Presence of only 11 pairs of ribs.	http://purl.obolibrary.org/obo/HP_0000878	hposlim_core	11 pairs of ribs
OBO:HP_0000879	Short sternum	biolink:OntologyClass	hp	SNOMEDCT_US:298724002|UMLS:C0575497|UMLS:C4020883	Decreased inferosuperior length of the sternum.	http://purl.obolibrary.org/obo/HP_0000879	hposlim_core	Short sternum|Hypoplastic sternum
OBO:HP_0000882	Hypoplastic scapulae	biolink:OntologyClass	hp	UMLS:C1846434	Underdeveloped scapula.	http://purl.obolibrary.org/obo/HP_0000882	hposlim_core	Small shoulder blade|Hypoplastic scapula|Scapular hypoplasia|Short scapulae|Small scapula|Small scapulae
OBO:HP_0000883	Thin ribs	biolink:OntologyClass	hp	SNOMEDCT_US:249697003|UMLS:C0426818	Ribs with a reduced diameter.	http://purl.obolibrary.org/obo/HP_0000883	hposlim_core	Slender ribs|Thin ribs
OBO:HP_0000884	Prominent sternum	biolink:OntologyClass	hp	UMLS:C1846433		http://purl.obolibrary.org/obo/HP_0000884		Prominent sternum|Sternal protrusion
OBO:HP_0000885	Broad ribs	biolink:OntologyClass	hp	UMLS:C1848654	Increased width of ribs	http://purl.obolibrary.org/obo/HP_0000885	hposlim_core	Broad ribs|Wide ribs
OBO:HP_0000886	Deformed rib cage	biolink:OntologyClass	hp	UMLS:C1838659	Malformation of the rib cage.	http://purl.obolibrary.org/obo/HP_0000886		Deformed rib cage
OBO:HP_0000887	Cupped ribs	biolink:OntologyClass	hp	SNOMEDCT_US:249704008|UMLS:C0426826|UMLS:C1865039	Wide, concave rib end.	http://purl.obolibrary.org/obo/HP_0000887	hposlim_core	Cupped ribs|Rib cupping|Rib flaring
OBO:HP_0000888	Horizontal ribs	biolink:OntologyClass	hp	UMLS:C3806510	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.	http://purl.obolibrary.org/obo/HP_0000888		Horizontal ribs
OBO:HP_0000889	Abnormal clavicle morphology	biolink:OntologyClass	hp	UMLS:C4021792	Any abnormality of the clavicles (collar bones).	http://purl.obolibrary.org/obo/HP_0000889	hposlim_core	Abnormal collarbone|Abnormal clavicles|Abnormality of the clavicle
OBO:HP_0000890	Long clavicles	biolink:OntologyClass	hp	SNOMEDCT_US:249687007|UMLS:C0426808	Increased length of the clavicles.	http://purl.obolibrary.org/obo/HP_0000890		Long collarbone|Elongated clavicles
OBO:HP_0000891	Cervical ribs	biolink:OntologyClass	hp	MSH:D057070|SNOMEDCT_US:72535009|UMLS:C0158779		http://purl.obolibrary.org/obo/HP_0000891	hposlim_core	
OBO:HP_0000892	Bifid ribs	biolink:OntologyClass	hp	UMLS:C4721788	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.	http://purl.obolibrary.org/obo/HP_0000892		Cleft ribs|Split ribs
OBO:HP_0000893	Bulging of the costochondral junction	biolink:OntologyClass	hp	UMLS:C1848538	Abnormal outward curving (protuberance) of the junction of ribs and costal cartilage.	http://purl.obolibrary.org/obo/HP_0000893		
OBO:HP_0000894	Short clavicles	biolink:OntologyClass	hp	SNOMEDCT_US:93250003|UMLS:C0426799	Reduced length of the clavicles.	http://purl.obolibrary.org/obo/HP_0000894	hposlim_core	Short collarbone|Clavicular hypoplasia|Hypoplastic clavicles|Underdeveloped clavicles
OBO:HP_0000895	Lateral clavicle hook	biolink:OntologyClass	hp	SNOMEDCT_US:249684000|UMLS:C0426805	An excessive upward convexity of the lateral clavicle.	http://purl.obolibrary.org/obo/HP_0000895		Hook-shaped collarbone|Handlebar clavicle|Hook-shaped clavicle|Hooked clavicle
OBO:HP_0000896	Rib exostoses	biolink:OntologyClass	hp	UMLS:C1835579	Multiple circumscribed bony excrescences located in the ribs.	http://purl.obolibrary.org/obo/HP_0000896		
OBO:HP_0000897	Rachitic rosary	biolink:OntologyClass	hp	SNOMEDCT_US:15214001|SNOMEDCT_US:249702007	A row of beadlike prominences at the junction of a rib and its cartilage (i.e., enlarged costochondral joints), resembling a rosary.	http://purl.obolibrary.org/obo/HP_0000897		
OBO:HP_0000900	Thickened ribs	biolink:OntologyClass	hp	SNOMEDCT_US:249699000|UMLS:C0426820	Increased thickness (diameter) of ribs.	http://purl.obolibrary.org/obo/HP_0000900	hposlim_core	
OBO:HP_0000902	Rib fusion	biolink:OntologyClass	hp	UMLS:C1844749	Complete or partial merging of adjacent ribs.	http://purl.obolibrary.org/obo/HP_0000902		Fused ribs|Rib fusion
OBO:HP_0000904	Flaring of rib cage	biolink:OntologyClass	hp	UMLS:C1854780	The presence of wide, concave anterior rib ends.	http://purl.obolibrary.org/obo/HP_0000904		Flaring of rib cage|Anterior flaring of ribs
OBO:HP_0000905	Progressive clavicular acroosteolysis	biolink:OntologyClass	hp	UMLS:C1837757	Progressive bone resorption in the distal part of the clavicle.	http://purl.obolibrary.org/obo/HP_0000905		Progressive acroosteolysis of the clavicle
OBO:HP_0000907	Anterior rib cupping	biolink:OntologyClass	hp	UMLS:C1846154	Wide, concave anterior rib end.	http://purl.obolibrary.org/obo/HP_0000907		Anterior cupping of ribs|Anteriorly splayed ribs
OBO:HP_0000910	Wide-cupped costochondral junctions	biolink:OntologyClass	hp	UMLS:C1861213		http://purl.obolibrary.org/obo/HP_0000910		
OBO:HP_0000911	Flat glenoid fossa	biolink:OntologyClass	hp	UMLS:C1855177	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.	http://purl.obolibrary.org/obo/HP_0000911		
OBO:HP_0000912	Sprengel anomaly	biolink:OntologyClass	hp	MEDDRA:10010455|MSH:C535802|SNOMEDCT_US:79120002|UMLS:C0152438	A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other).	http://purl.obolibrary.org/obo/HP_0000912	hposlim_core	High shoulder blade|Congenital, upward displacement of the scapula|High scapula|Sprengel deformity
OBO:HP_0000913	Posterior rib fusion	biolink:OntologyClass	hp	UMLS:C1842084	Complete or partial merging of the posterior part of adjacent ribs.	http://purl.obolibrary.org/obo/HP_0000913		
OBO:HP_0000914	Shield chest	biolink:OntologyClass	hp	UMLS:C1834124|UMLS:C1839248	A broad chest.	http://purl.obolibrary.org/obo/HP_0000914		Shield chest|Broad chest
OBO:HP_0000915	Pectus excavatum of inferior sternum	biolink:OntologyClass	hp	UMLS:C1864796	Pectus excavatum (defect of the chest wall characterized by depression of the sternum) affecting primarily the inferior region of the sternum.	http://purl.obolibrary.org/obo/HP_0000915		Pectus excavatum inferiorly
OBO:HP_0000916	Broad clavicles	biolink:OntologyClass	hp	SNOMEDCT_US:249680009|UMLS:C0426801	Increased width (cross-sectional diameter) of the clavicles.	http://purl.obolibrary.org/obo/HP_0000916	hposlim_core	Broad collarbone
OBO:HP_0000917	Superior pectus carinatum	biolink:OntologyClass	hp	UMLS:C1864795	Pectus carinatum affecting primarily the superior part of the sternum.	http://purl.obolibrary.org/obo/HP_0000917		Pectus carinatum superiorly
OBO:HP_0000918	Scapular exostoses	biolink:OntologyClass	hp	UMLS:C1851415	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.	http://purl.obolibrary.org/obo/HP_0000918		Scapulae exostoses|Shoulder bone exostoes
OBO:HP_0000919	Abnormality of the costochondral junction	biolink:OntologyClass	hp	UMLS:C4021791	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.	http://purl.obolibrary.org/obo/HP_0000919		Costochondral juctions abnormal
OBO:HP_0000920	Enlargement of the costochondral junction	biolink:OntologyClass	hp	UMLS:C1857180	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.	http://purl.obolibrary.org/obo/HP_0000920	hposlim_core	Costochondral thickening|Enlarged costochondral junctions|Prominent costochondral junction|Wide costochondral junctions|Widened costochondral junction
OBO:HP_0000921	Missing ribs	biolink:OntologyClass	hp	SNOMEDCT_US:249695006|UMLS:C0426816	A developmental anomaly with absence of one or more ribs.	http://purl.obolibrary.org/obo/HP_0000921	hposlim_core	Absent ribs|Decreased rib number|Missing ribs
OBO:HP_0000922	Posterior rib cupping	biolink:OntologyClass	hp	UMLS:C1837483	Wide, concave posterior rib end.	http://purl.obolibrary.org/obo/HP_0000922		Anterior and posterior rib cupping
OBO:HP_0000923	Beaded ribs	biolink:OntologyClass	hp	UMLS:C0426824	The presence of a row of multiple rounded expansions (beadlike prominences) at the junction of a rib and its cartilage.	http://purl.obolibrary.org/obo/HP_0000923		
OBO:HP_0000924	Abnormality of the skeletal system	biolink:OntologyClass	hp	UMLS:C4021790	An abnormality of the skeletal system.	http://purl.obolibrary.org/obo/HP_0000924		Abnormality of the skeletal system|Skeletal abnormalities|Skeletal anomalies
OBO:HP_0000925	Abnormality of the vertebral column	biolink:OntologyClass	hp	UMLS:C4020882|UMLS:C4021789	Any abnormality of the vertebral column.	http://purl.obolibrary.org/obo/HP_0000925	hposlim_core	Abnormal spine|Abnormal vertebral column|Abnormality of the spine|Abnormality of the vertebral column|Abnormality of the backbone
OBO:HP_0000926	Platyspondyly	biolink:OntologyClass	hp	UMLS:C1844704	A flattened vertebral body shape with reduced distance between the vertebral endplates.	http://purl.obolibrary.org/obo/HP_0000926	hposlim_core	Flattened vertebrae|Flat vertebral bodies|Flattened vertebral bodies
OBO:HP_0000927	Abnormality of skeletal maturation	biolink:OntologyClass	hp	UMLS:C4025818	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.	http://purl.obolibrary.org/obo/HP_0000927		Abnormality of skeletal maturation
OBO:HP_0000929	Abnormal skull morphology	biolink:OntologyClass	hp	UMLS:C0235942	An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones.	http://purl.obolibrary.org/obo/HP_0000929		Abnormality of the skull|Abnormality of the skull bones
OBO:HP_0000930	Elevated imprint of the transverse sinuses	biolink:OntologyClass	hp	UMLS:C4025817		http://purl.obolibrary.org/obo/HP_0000930		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
OBO:HP_0000931	Thinning and bulging of the posterior fossa bones	biolink:OntologyClass	hp	UMLS:C4021788|UMLS:C4280608		http://purl.obolibrary.org/obo/HP_0000931		Thinning and bulging of posterior fossa bones|Thinning and bulging of posterior skull bones|Thinning and bulging of occipital bone of skull
OBO:HP_0000932	Abnormal posterior cranial fossa morphology	biolink:OntologyClass	hp	UMLS:C3280768	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.	http://purl.obolibrary.org/obo/HP_0000932		Abnormality of the posterior cranial fossa|Abnormality of the posterior fossa|Posterior fossa anomaly
OBO:HP_0000933	Posterior fossa cyst at the fourth ventricle	biolink:OntologyClass	hp	UMLS:C4025816		http://purl.obolibrary.org/obo/HP_0000933		
OBO:HP_0000934	Chondrocalcinosis	biolink:OntologyClass	hp	MSH:D002805|SNOMEDCT_US:201637001|SNOMEDCT_US:239832006|SNOMEDCT_US:239838005|UMLS:C0553730	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) .	http://purl.obolibrary.org/obo/HP_0000934		Calcium deposits in joints
OBO:HP_0000935	Thickened cortex of long bones	biolink:OntologyClass	hp	UMLS:C1840418	Abnormal thickening of the cortex of long bones.	http://purl.obolibrary.org/obo/HP_0000935		Broad cortex of long bones|Cortical thickening of the long bones|Thickened cortices of long bones
OBO:HP_0000938	Osteopenia	biolink:OntologyClass	hp	MSH:D001851|SNOMEDCT_US:312894000|SNOMEDCT_US:78441005|UMLS:C0029453|UMLS:C0747078	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.	http://purl.obolibrary.org/obo/HP_0000938		Generalized osteopenia
OBO:HP_0000939	Osteoporosis	biolink:OntologyClass	hp	MSH:D010024|SNOMEDCT_US:64859006|UMLS:C0029456	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).	http://purl.obolibrary.org/obo/HP_0000939		
OBO:HP_0000940	Abnormal diaphysis morphology	biolink:OntologyClass	hp	UMLS:C4021787	An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone.	http://purl.obolibrary.org/obo/HP_0000940		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
OBO:HP_0000941	Short diaphyses	biolink:OntologyClass	hp	UMLS:C4025815		http://purl.obolibrary.org/obo/HP_0000941		Short shaft of long bone
OBO:HP_0000943	Dysostosis multiplex	biolink:OntologyClass	hp	MSH:D008059|SNOMEDCT_US:254069004|SNOMEDCT_US:65327002|UMLS:C0086795		http://purl.obolibrary.org/obo/HP_0000943		
OBO:HP_0000944	Abnormality of the metaphysis	biolink:OntologyClass	hp	UMLS:C4025814	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.	http://purl.obolibrary.org/obo/HP_0000944		Abnormality of the wide portion of a long bone
OBO:HP_0000946	Hypoplastic ilia	biolink:OntologyClass	hp	UMLS:C1861218|UMLS:C4280607	Underdevelopment of the ilium.	http://purl.obolibrary.org/obo/HP_0000946		Small wings of the pelvic girdle|Short and small iliac bones|Small iliac bones
OBO:HP_0000947	Dumbbell-shaped long bone	biolink:OntologyClass	hp	UMLS:C2749582	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.	http://purl.obolibrary.org/obo/HP_0000947		Dumbbell-shaped long bone|Dumbbell widening of long bone metaphyses
OBO:HP_0000951	Abnormality of the skin	biolink:OntologyClass	hp	MSH:D012868|MSH:D012871|SNOMEDCT_US:199879009|SNOMEDCT_US:95320005|UMLS:C0037268|UMLS:C0037274	An abnormality of the skin.	http://purl.obolibrary.org/obo/HP_0000951	hposlim_core	Abnormality of the skin|dermatopathy|dermopathy|Skin abnormality
OBO:HP_0000952	Jaundice	biolink:OntologyClass	hp	MSH:D007565|SNOMEDCT_US:18165001|UMLS:C0022346	Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.	http://purl.obolibrary.org/obo/HP_0000952		Jaundice|Yellow skin|Yellowing of the skin|Icterus
OBO:HP_0000953	Hyperpigmentation of the skin	biolink:OntologyClass	hp	MSH:D017495|SNOMEDCT_US:4830009|SNOMEDCT_US:49765009|UMLS:C0162834	A darkening of the skin related to an increase in melanin production and deposition.	http://purl.obolibrary.org/obo/HP_0000953		Patchy darkened skin|Cutaneous hyperpigmentation|Hyperpigmented lesion|Increased skin pigmentation|Skin hyperpigmentation|Melanoderma|Melanodermia
OBO:HP_0000954	Single transverse palmar crease	biolink:OntologyClass	hp	SNOMEDCT_US:248409006|UMLS:C0424731	The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.	http://purl.obolibrary.org/obo/HP_0000954	hposlim_core	Simian crease|Simian creases|Simian line|Single flexion crease|Single palmar crease|Single palmar creases|Single transverse palmar creases|Transverse palmar crease
OBO:HP_0000956	Acanthosis nigricans	biolink:OntologyClass	hp	MSH:D000052|SNOMEDCT_US:402599005|SNOMEDCT_US:72129000|UMLS:C0000889	A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck.	http://purl.obolibrary.org/obo/HP_0000956	secondary_consequence	Darkened and thickened skin|Keratosis nigricans
OBO:HP_0000957	Cafe-au-lait spot	biolink:OntologyClass	hp	MSH:D019080|SNOMEDCT_US:201281002|SNOMEDCT_US:51089004|UMLS:C0221263|UMLS:C0265974	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.	http://purl.obolibrary.org/obo/HP_0000957		Birthmark|Flat light-brown mark on skin|Cafe au lait spots|Cafe-au-lait macule|Cafe-au-lait macules|Cafe-au-lait spots
OBO:HP_0000958	Dry skin	biolink:OntologyClass	hp	MEDDRA:10048222|SNOMEDCT_US:16386004|UMLS:C0151908|UMLS:C0259817	Skin characterized by the lack of natural or normal moisture.	http://purl.obolibrary.org/obo/HP_0000958	hposlim_core	Dry skin|Xerosis
OBO:HP_0000960	Sacral dimple	biolink:OntologyClass	hp	SNOMEDCT_US:249729002|SNOMEDCT_US:311897005|UMLS:C0426848	A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft.	http://purl.obolibrary.org/obo/HP_0000960	hposlim_core	Spinal dimple|Pilonidal dimple
OBO:HP_0000961	Cyanosis	biolink:OntologyClass	hp	MSH:D003490|SNOMEDCT_US:119419001|SNOMEDCT_US:3415004|UMLS:C0010520	Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.	http://purl.obolibrary.org/obo/HP_0000961		Blue discoloration of the skin
OBO:HP_0000962	Hyperkeratosis	biolink:OntologyClass	hp	MEDDRA:10020649|SNOMEDCT_US:26996000|SNOMEDCT_US:396228006|SNOMEDCT_US:399955009|UMLS:C0870082	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.	http://purl.obolibrary.org/obo/HP_0000962	hposlim_core	
OBO:HP_0000963	Thin skin	biolink:OntologyClass	hp	SNOMEDCT_US:277797007|UMLS:C0423757	Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.	http://purl.obolibrary.org/obo/HP_0000963	hposlim_core	Thin skin
OBO:HP_0000964	Eczema	biolink:OntologyClass	hp	MSH:D004485|SNOMEDCT_US:281104002|SNOMEDCT_US:43116000|UMLS:C0013595	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.	http://purl.obolibrary.org/obo/HP_0000964		Eczema
OBO:HP_0000965	Cutis marmorata	biolink:OntologyClass	hp	UMLS:C0263401	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.	http://purl.obolibrary.org/obo/HP_0000965	hposlim_core	
OBO:HP_0000966	Hypohidrosis	biolink:OntologyClass	hp	MEDDRA:10021013|MSH:D007007|SNOMEDCT_US:45004005|UMLS:C0020620	Abnormally diminished capacity to sweat.	http://purl.obolibrary.org/obo/HP_0000966	hposlim_core	Decreased ability to sweat|Decreased sweating|Sweating, decreased|Inadequate sweating|Oligohidrosis
OBO:HP_0000967	Petechiae	biolink:OntologyClass	hp	MEDDRA:10034754|MSH:D011693|SNOMEDCT_US:271813007|SNOMEDCT_US:50091001|UMLS:C0031256	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.	http://purl.obolibrary.org/obo/HP_0000967	hposlim_core	
OBO:HP_0000968	Ectodermal dysplasia	biolink:OntologyClass	hp	MSH:D004476|SNOMEDCT_US:254154003|SNOMEDCT_US:8654005|UMLS:C0013575	Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands.	http://purl.obolibrary.org/obo/HP_0000968		
OBO:HP_0000969	Edema	biolink:OntologyClass	hp	MSH:D004487|SNOMEDCT_US:20741006|SNOMEDCT_US:267038008|SNOMEDCT_US:423666004|SNOMEDCT_US:79654002|UMLS:C0013604	An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.	http://purl.obolibrary.org/obo/HP_0000969		Fluid retention|Water retention|Dropsy|Hydrops|Oedema
OBO:HP_0000970	Anhidrosis	biolink:OntologyClass	hp	MEDDRA:10002512|MSH:D007007|SNOMEDCT_US:14662005|SNOMEDCT_US:39659002|UMLS:C0003028	Inability to sweat.	http://purl.obolibrary.org/obo/HP_0000970	hposlim_core	Lack of sweating|Sweating dysfunction|Anhydrosis|Sudomotor dysfunction
OBO:HP_0000971	Abnormal sweat gland morphology	biolink:OntologyClass	hp	MSH:D013543|SNOMEDCT_US:88232005|UMLS:C0038986|UMLS:C0262643|UMLS:C4020881	Any structural abnormality of the sweat gland.	http://purl.obolibrary.org/obo/HP_0000971		Abnormality of the sweat gland|Abnormalities of sweating|Sweat gland disease
OBO:HP_0000972	Palmoplantar hyperkeratosis	biolink:OntologyClass	hp	MSH:D007645|SNOMEDCT_US:706885006|UMLS:C0022596	Hyperkeratosis affecting the palm of the hand and the sole of the foot.	http://purl.obolibrary.org/obo/HP_0000972	hposlim_core	Thickening of the outer layer of the skin of the palms and soles|Hyperkeratosis of palms and soles|Hyperkeratosis of the palms and soles|Palmoplantar keratoses|Palmoplantar keratosis|Thick palms and soles|Thickened palms and soles
OBO:HP_0000973	Cutis laxa	biolink:OntologyClass	hp	MSH:C531660|MSH:D003483|SNOMEDCT_US:58588007|UMLS:C0010495|UMLS:C2930812|UMLS:C4280606	Wrinkled, redundant, inelastic and sagging skin.	http://purl.obolibrary.org/obo/HP_0000973		Hanging skin|Loose and inelastic skin|Chalazoderma|Cutaneous laxity|Dermatochalasia|Dermatomegaly|Elastolysis|Generalized elastolysis|Hypoelastic skin|Inelastic skin|Lax skin|Loose skin|Skin laxity
OBO:HP_0000974	Hyperextensible skin	biolink:OntologyClass	hp	UMLS:C0241074	A condition in which the skin can be stretched beyond normal, and then returns to its initial position.	http://purl.obolibrary.org/obo/HP_0000974	hposlim_core	Hyperelastic skin|Skin hyperelasticity|Stretchable skin|Skin hyperextensibility
OBO:HP_0000975	Hyperhidrosis	biolink:OntologyClass	hp	MEDDRA:10020642|MSH:D006945|MSH:D013546|SNOMEDCT_US:161857006|SNOMEDCT_US:312230002|SNOMEDCT_US:364538006|SNOMEDCT_US:415690000|SNOMEDCT_US:415691001|SNOMEDCT_US:52613005|UMLS:C0020458|UMLS:C0038990|UMLS:C0700590	Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.	http://purl.obolibrary.org/obo/HP_0000975	hposlim_core	Excessive sweating|Increased sweating|Profuse sweating|Sweating|Sweating profusely|Sweating, increased|Diaphoresis
OBO:HP_0000976	Eczematoid dermatitis	biolink:OntologyClass	hp	MSH:D004485|SNOMEDCT_US:281104002|SNOMEDCT_US:43116000|UMLS:C0013595		http://purl.obolibrary.org/obo/HP_0000976		
OBO:HP_0000977	Soft skin	biolink:OntologyClass	hp	UMLS:C0241178|UMLS:C1844592	Subjective impression of increased softness upon palpitation of the skin.	http://purl.obolibrary.org/obo/HP_0000977	hposlim_core	Soft skin|Velvety skin|Velvety skin texture
OBO:HP_0000978	Bruising susceptibility	biolink:OntologyClass	hp	MSH:D004438|SNOMEDCT_US:302227002|SNOMEDCT_US:424131007|SNOMEDCT_US:425075004|SNOMEDCT_US:77643000|UMLS:C0013491|UMLS:C0423798	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.	http://purl.obolibrary.org/obo/HP_0000978		Bruise easily|Bruising susceptibility|Easy bruisability|Easy bruising|Bruisability
OBO:HP_0000979	Purpura	biolink:OntologyClass	hp	MSH:D011693|SNOMEDCT_US:12393003|SNOMEDCT_US:387778001|SNOMEDCT_US:423902002|UMLS:C0034150	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.	http://purl.obolibrary.org/obo/HP_0000979	hposlim_core	Blood spots|Red or purple spots on the skin
OBO:HP_0000980	Pallor	biolink:OntologyClass	hp	MSH:D010167|SNOMEDCT_US:398979000|UMLS:C0030232	Abnormally pale skin.	http://purl.obolibrary.org/obo/HP_0000980		Paleness|Skin paleness
OBO:HP_0000982	Palmoplantar keratoderma	biolink:OntologyClass	hp	MSH:D007645|SNOMEDCT_US:706885006|UMLS:C0022596	Abnormal thickening of the skin of the palms of the hands and the soles of the feet.	http://purl.obolibrary.org/obo/HP_0000982		Thickening of palms and soles|Palmar and plantar keratoderma
OBO:HP_0000987	Atypical scarring of skin	biolink:OntologyClass	hp	UMLS:C4021786	Atypically scarred skin .	http://purl.obolibrary.org/obo/HP_0000987		Atypical scarring|Atypical scarring of skin
OBO:HP_0000988	Skin rash	biolink:OntologyClass	hp	MEDDRA:10037844|MSH:D005076|SNOMEDCT_US:112625008|SNOMEDCT_US:271807003|UMLS:C0015230	A red eruption of the skin.	http://purl.obolibrary.org/obo/HP_0000988		Rash|Skin rash|Exanthem
OBO:HP_0000989	Pruritus	biolink:OntologyClass	hp	MSH:D011537|SNOMEDCT_US:279333002|SNOMEDCT_US:418290006|SNOMEDCT_US:418363000|SNOMEDCT_US:424492005|UMLS:C0033774	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.	http://purl.obolibrary.org/obo/HP_0000989	hposlim_core	Itching|Itchy skin|Skin itching|pruritis
OBO:HP_0000991	Xanthomatosis	biolink:OntologyClass	hp	MSH:D014973|SNOMEDCT_US:63103006|UMLS:C0043325	The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin.	http://purl.obolibrary.org/obo/HP_0000991		Yellow bumps of fatty deposits on skin|Xanthomata
OBO:HP_0000992	Cutaneous photosensitivity	biolink:OntologyClass	hp	MSH:D010787|SNOMEDCT_US:90128006|UMLS:C0349506	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.	http://purl.obolibrary.org/obo/HP_0000992	hposlim_core	Photosensitive skin|Photosensitive skin rashes|Photosensitivity|Sensitivity to sunlight|Skin photosensitivity|Sun sensitivity
OBO:HP_0000993	Molluscoid pseudotumors	biolink:OntologyClass	hp	UMLS:C1844597	Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees.	http://purl.obolibrary.org/obo/HP_0000993		Molluscoid pseudotumor
OBO:HP_0000995	Melanocytic nevus	biolink:OntologyClass	hp	MSH:D009508|SNOMEDCT_US:21119008|SNOMEDCT_US:400096001|UMLS:C0027962|UMLS:C4280269	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.	http://purl.obolibrary.org/obo/HP_0000995		Noncancerous mole|Beauty mark|Melanocytic naevus|Melanocytic nevi|Nevocellular nevi|Pigmented naevi|Pigmented nevi
OBO:HP_0000996	Facial capillary hemangioma	biolink:OntologyClass	hp	UMLS:C1858545	Hemangioma, a benign tumor of the vascular endothelial cells with small endothelial spaces, occurring in the face.	http://purl.obolibrary.org/obo/HP_0000996		
OBO:HP_0000997	Axillary freckling	biolink:OntologyClass	hp	UMLS:C1860335	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.	http://purl.obolibrary.org/obo/HP_0000997	hposlim_core	
OBO:HP_0000998	Hypertrichosis	biolink:OntologyClass	hp	MSH:D006983|SNOMEDCT_US:271607001|SNOMEDCT_US:29966009|UMLS:C0020555	Hypertrichosis is increased hair growth that is abnormal in quantity or location.	http://purl.obolibrary.org/obo/HP_0000998		Excessive hair growth|Increased hair growth on body
OBO:HP_0000999	Pyoderma	biolink:OntologyClass	hp	MSH:D011711|SNOMEDCT_US:70759006|UMLS:C0034212	Any manifestation of a skin disease associated with the production of pus.	http://purl.obolibrary.org/obo/HP_0000999		Pus-filled lesion
OBO:HP_0001000	Abnormality of skin pigmentation	biolink:OntologyClass	hp	UMLS:C1260926	An abnormality of the pigmentation of the skin.	http://purl.obolibrary.org/obo/HP_0001000	hposlim_core	Abnormal pigmentation|Abnormal skin color|Abnormal skin pigmentation|Abnormality of pigmentation|Abnormality of skin pigmentation|Pigmentary changes|Pigmentary skin changes|Pigmentation anomaly
OBO:HP_0001001	Abnormality of subcutaneous fat tissue	biolink:OntologyClass	hp	UMLS:C4025813		http://purl.obolibrary.org/obo/HP_0001001		Abnormality of fatty tissue below the skin
OBO:HP_0001002	obsolete Decreased subcutaneous fat	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0001002		
OBO:HP_0001003	Multiple lentigines	biolink:OntologyClass	hp	SNOMEDCT_US:72100002|UMLS:C0036651|UMLS:C1328931	Presence of an unusually high number of lentigines (singular: lentigo), which are flat, tan to brown oval spots.	http://purl.obolibrary.org/obo/HP_0001003	hposlim_core	Liver spots
OBO:HP_0001004	Lymphedema	biolink:OntologyClass	hp	MSH:D008209|SNOMEDCT_US:234097001|SNOMEDCT_US:30213001|UMLS:C0024236|UMLS:C0240278|UMLS:C1835229	Localized fluid retention and tissue swelling caused by a compromised lymphatic system.	http://purl.obolibrary.org/obo/HP_0001004		Swelling caused by excess lymph fluid under skin|Lymphatic obstruction|Lymphoedema|Onset of lymphedema around puberty
OBO:HP_0001005	Dermatological manifestations of systemic disorders	biolink:OntologyClass	hp	UMLS:C4025812		http://purl.obolibrary.org/obo/HP_0001005	secondary_consequence	
OBO:HP_0001006	obsolete Hypotrichosis	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0001006		
OBO:HP_0001007	Hirsutism	biolink:OntologyClass	hp	MSH:D006628|SNOMEDCT_US:399939002|UMLS:C0019572	Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).	http://purl.obolibrary.org/obo/HP_0001007		Excessive hairiness
OBO:HP_0001008	Accumulation of melanosomes in melanocytes	biolink:OntologyClass	hp	UMLS:C1843389		http://purl.obolibrary.org/obo/HP_0001008		
OBO:HP_0001009	Telangiectasia	biolink:OntologyClass	hp	MSH:D013684|SNOMEDCT_US:112641009|SNOMEDCT_US:247479008|UMLS:C0039446|UMLS:C1138421	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.	http://purl.obolibrary.org/obo/HP_0001009		Spider veins|Cutaneous telangiectasia|Telangiectases
OBO:HP_0001010	Hypopigmentation of the skin	biolink:OntologyClass	hp	MSH:D017496|SNOMEDCT_US:18655006|SNOMEDCT_US:201284005|SNOMEDCT_US:23006000|SNOMEDCT_US:89031001|UMLS:C0162835	A reduction of skin color related to a decrease in melanin production and deposition.	http://purl.obolibrary.org/obo/HP_0001010		Patchy lightened skin|Hypopigmentation|Hypopigmented skin|Skin hypopigmentation
OBO:HP_0001011	obsolete Diaphoresis (with pheochromocytoma)	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0001011		
OBO:HP_0001012	Multiple lipomas	biolink:OntologyClass	hp	MSH:D008067|NCIT:C3192|SNOMEDCT_US:404062002|SNOMEDCT_US:46720004|SNOMEDCT_US:93163002|UMLS:C0023798|UMLS:C0745730	The presence of multiple lipomas (a type of benign tissue made of fatty tissue).	http://purl.obolibrary.org/obo/HP_0001012		Multiple fatty lumps|Lipomas|Lipomatosis
OBO:HP_0001013	Eruptive xanthomas	biolink:OntologyClass	hp	SNOMEDCT_US:238952003|UMLS:C0221252	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.	http://purl.obolibrary.org/obo/HP_0001013		
OBO:HP_0001014	Angiokeratoma	biolink:OntologyClass	hp	MSH:D000794|SNOMEDCT_US:26810009|UMLS:C0002985	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.	http://purl.obolibrary.org/obo/HP_0001014		Angiokeratomas
OBO:HP_0001015	Prominent superficial veins	biolink:OntologyClass	hp	UMLS:C1837785	A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticable than normal.	http://purl.obolibrary.org/obo/HP_0001015		Prominent veins
OBO:HP_0001017	Anemic pallor	biolink:OntologyClass	hp	UMLS:C4025811	A type of pallor that is secondary to the presence of anemia.	http://purl.obolibrary.org/obo/HP_0001017		Anaemic pallor
OBO:HP_0001018	Abnormal palmar dermatoglyphics	biolink:OntologyClass	hp	UMLS:C4025810	An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand.	http://purl.obolibrary.org/obo/HP_0001018		
OBO:HP_0001019	Erythroderma	biolink:OntologyClass	hp	MSH:D003873|SNOMEDCT_US:200948000|SNOMEDCT_US:396349005|SNOMEDCT_US:396350005|SNOMEDCT_US:399992009|SNOMEDCT_US:400005007|UMLS:C0011606	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.	http://purl.obolibrary.org/obo/HP_0001019		Red scaly skin caused by inflammatory skin disease|Exfoliative dermititis|Generalized erythroderma|Generalized erythrodermia
OBO:HP_0001022	Albinism	biolink:OntologyClass	hp	MSH:D000417|SNOMEDCT_US:15890002|SNOMEDCT_US:18064000|UMLS:C0001916|UMLS:C0333913	An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina).	http://purl.obolibrary.org/obo/HP_0001022		Albinism|Achromasia
OBO:HP_0001024	Skin dimple over apex of long bone angulation	biolink:OntologyClass	hp	UMLS:C1855815		http://purl.obolibrary.org/obo/HP_0001024		
OBO:HP_0001025	Urticaria	biolink:OntologyClass	hp	MEDDRA:10046735|MSH:D014581|SNOMEDCT_US:126485001|SNOMEDCT_US:247472004|SNOMEDCT_US:64305001|UMLS:C0042109	Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure.	http://purl.obolibrary.org/obo/HP_0001025	hposlim_core	Hives
OBO:HP_0001026	Penetrating foot ulcers	biolink:OntologyClass	hp	UMLS:C4025809		http://purl.obolibrary.org/obo/HP_0001026		Penetrating foot ulcers
OBO:HP_0001027	Soft, doughy skin	biolink:OntologyClass	hp	UMLS:C1849043	A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough.	http://purl.obolibrary.org/obo/HP_0001027		Soft, doughy skin
OBO:HP_0001028	Hemangioma	biolink:OntologyClass	hp	MSH:D006391|NCIT:C3085|SNOMEDCT_US:2099007|SNOMEDCT_US:253053003|SNOMEDCT_US:400210000|UMLS:C0018916	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).	http://purl.obolibrary.org/obo/HP_0001028		Strawberry mark|Hemangiomata
OBO:HP_0001029	Poikiloderma	biolink:OntologyClass	hp	MEDDRA:10057041|SNOMEDCT_US:402685001|SNOMEDCT_US:70114006|UMLS:C0392777	Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias.	http://purl.obolibrary.org/obo/HP_0001029	hposlim_core	
OBO:HP_0001030	Fragile skin	biolink:OntologyClass	hp	MEDDRA:10040851|SNOMEDCT_US:247427007|UMLS:C0241181	Skin that splits easily with minimal injury.	http://purl.obolibrary.org/obo/HP_0001030	hposlim_core	Fragile skin|Skin fragility
OBO:HP_0001031	Subcutaneous lipoma	biolink:OntologyClass	hp	NCIT:C3192|UMLS:C1403035	The presence of subcutaneous lipoma.	http://purl.obolibrary.org/obo/HP_0001031		
OBO:HP_0001032	Absent distal interphalangeal creases	biolink:OntologyClass	hp	UMLS:C1861349	Absence of the distal interphalangeal flexion creases of the fingers.	http://purl.obolibrary.org/obo/HP_0001032		Absence of skin creases over distal interphalangeal joints|Aplasia of the distal interphalangeal creases|Distal finger flexion creases absent
OBO:HP_0001033	Facial flushing after alcohol intake	biolink:OntologyClass	hp	UMLS:C4025808		http://purl.obolibrary.org/obo/HP_0001033	secondary_consequence	Facial flushing after alcohol intake
OBO:HP_0001034	Hypermelanotic macule	biolink:OntologyClass	hp	UMLS:C1842774	A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size.	http://purl.obolibrary.org/obo/HP_0001034		Hyperpigmented spots|Hyperpigmented skin patches|Hyperpigmented macules
OBO:HP_0001036	Parakeratosis	biolink:OntologyClass	hp	MSH:D010241|SNOMEDCT_US:200766001|SNOMEDCT_US:65068000|UMLS:C0030436	Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes.	http://purl.obolibrary.org/obo/HP_0001036		
OBO:HP_0001038	Warfarin-induced skin necrosis	biolink:OntologyClass	hp	UMLS:C1867638		http://purl.obolibrary.org/obo/HP_0001038	secondary_consequence	
OBO:HP_0001039	Atheroeruptive xanthoma	biolink:OntologyClass	hp	UMLS:C4025807		http://purl.obolibrary.org/obo/HP_0001039		
OBO:HP_0001040	Multiple pterygia	biolink:OntologyClass	hp	UMLS:C1867448		http://purl.obolibrary.org/obo/HP_0001040		
OBO:HP_0001041	Facial erythema	biolink:OntologyClass	hp	MSH:D001821|MSH:D012393|SNOMEDCT_US:20255002|SNOMEDCT_US:271811009|SNOMEDCT_US:398909004|UMLS:C0005874|UMLS:C0035854|UMLS:C0239488|UMLS:C4020880	Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin.	http://purl.obolibrary.org/obo/HP_0001041		Blushed cheeks|Blushing|Red face|Red in the face|Rosacea|Ruddy face
OBO:HP_0001042	High axial triradius	biolink:OntologyClass	hp	UMLS:C4025806		http://purl.obolibrary.org/obo/HP_0001042		
OBO:HP_0001043	Prominent scalp veins	biolink:OntologyClass	hp	UMLS:C1856542		http://purl.obolibrary.org/obo/HP_0001043		Prominent scalp veins
OBO:HP_0001045	Vitiligo	biolink:OntologyClass	hp	MSH:D014820|SNOMEDCT_US:56727007|UMLS:C0042900		http://purl.obolibrary.org/obo/HP_0001045		Blotchy loss of skin color
OBO:HP_0001046	Intermittent jaundice	biolink:OntologyClass	hp	UMLS:C4025805	Jaundice that is sometimes present, sometimes not.	http://purl.obolibrary.org/obo/HP_0001046	secondary_consequence	Intermittent yellow skin|Intermittent yellowing of skin|Intermittent icterus
OBO:HP_0001047	Atopic dermatitis	biolink:OntologyClass	hp	MSH:D003876|SNOMEDCT_US:200775004|SNOMEDCT_US:24079001|UMLS:C0011615|UMLS:C4280605	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.	http://purl.obolibrary.org/obo/HP_0001047		Baby eczema|Atopic dermatitis, chronic|Dermatitis, Atopic
OBO:HP_0001048	Cavernous hemangioma	biolink:OntologyClass	hp	MEDDRA:10055899|MSH:D006392|NCIT:C3086|SNOMEDCT_US:33377007|SNOMEDCT_US:416824008|SNOMEDCT_US:56975005|UMLS:C0018920	The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma.	http://purl.obolibrary.org/obo/HP_0001048	hposlim_core	Collection of dilated blood vessels that forms mass|Cavernous angioma|Cavernous haemangioma
OBO:HP_0001049	Absent dorsal skin creases over affected joints	biolink:OntologyClass	hp	UMLS:C1861400		http://purl.obolibrary.org/obo/HP_0001049		
OBO:HP_0001050	Plethora	biolink:OntologyClass	hp	SNOMEDCT_US:75246004|UMLS:C0232370		http://purl.obolibrary.org/obo/HP_0001050		
OBO:HP_0001051	Seborrheic dermatitis	biolink:OntologyClass	hp	MSH:D012628|SNOMEDCT_US:50563003|SNOMEDCT_US:86708008|UMLS:C0036508|UMLS:C3806554	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.	http://purl.obolibrary.org/obo/HP_0001051		Seborrhea|Seborrheic eczema|Dysseborrheic dermatitis
OBO:HP_0001052	Nevus flammeus	biolink:OntologyClass	hp	MEDDRA:10067193|MSH:D019339|SNOMEDCT_US:254211001|SNOMEDCT_US:416377005|UMLS:C0235752	A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin.	http://purl.obolibrary.org/obo/HP_0001052	hposlim_core	port-wine stain|Nevus simplex
OBO:HP_0001053	Hypopigmented skin patches	biolink:OntologyClass	hp	UMLS:C1836735		http://purl.obolibrary.org/obo/HP_0001053		Patchy loss of skin color
OBO:HP_0001054	Numerous nevi	biolink:OntologyClass	hp	UMLS:C1849677		http://purl.obolibrary.org/obo/HP_0001054		Numerous moles|Multiple pigmented nevi
OBO:HP_0001055	Erysipelas	biolink:OntologyClass	hp	MEDDRA:10015145|MSH:D004881|MSH:D004886|SNOMEDCT_US:44653001|SNOMEDCT_US:51510002|UMLS:C0014714|UMLS:C0014733	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.	http://purl.obolibrary.org/obo/HP_0001055	hposlim_core	St. Anthony's Fire
OBO:HP_0001056	Milia	biolink:OntologyClass	hp	SNOMEDCT_US:254679001|SNOMEDCT_US:254683001|SNOMEDCT_US:37719003|UMLS:C0345996	Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin.	http://purl.obolibrary.org/obo/HP_0001056	hposlim_core	Milk spot|Millium cyst
OBO:HP_0001057	Aplasia cutis congenita	biolink:OntologyClass	hp	MEDDRA:10002963|MSH:D004476|SNOMEDCT_US:254237003|SNOMEDCT_US:35484002|SNOMEDCT_US:74223008|UMLS:C0265989|UMLS:C0282160	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.	http://purl.obolibrary.org/obo/HP_0001057	hposlim_core	Absence of part of skin at birth|Congenital scars|Congenital absence of skin|Cutis aplasia
OBO:HP_0001058	Poor wound healing	biolink:OntologyClass	hp	UMLS:C1851789	A reduced ability to heal cutaneous wounds.	http://purl.obolibrary.org/obo/HP_0001058	hposlim_core	Poor wound healing
OBO:HP_0001059	Pterygium	biolink:OntologyClass	hp	MSH:D011625|SNOMEDCT_US:77489003|UMLS:C0033999	Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits.	http://purl.obolibrary.org/obo/HP_0001059		Surfer's eye|Pterygia
OBO:HP_0001060	Axillary pterygium	biolink:OntologyClass	hp	UMLS:C1844738	Presence of a cutaneous membrane (flap) in the armpit.	http://purl.obolibrary.org/obo/HP_0001060		Axillary pterygia
OBO:HP_0001061	Acne	biolink:OntologyClass	hp	MEDDRA:10000496|SNOMEDCT_US:11381005|UMLS:C0702166	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).	http://purl.obolibrary.org/obo/HP_0001061	hposlim_core	Breaking out|Acne
OBO:HP_0001062	Atypical nevus	biolink:OntologyClass	hp	MSH:D004416|SNOMEDCT_US:254818000|SNOMEDCT_US:61814002|UMLS:C0205748	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.	http://purl.obolibrary.org/obo/HP_0001062		Atypical mole|Dysplastic Nevus
OBO:HP_0001063	Acrocyanosis	biolink:OntologyClass	hp	SNOMEDCT_US:25003006|UMLS:C0221347		http://purl.obolibrary.org/obo/HP_0001063		Persistent blue color of hands, feet, or parts of face
OBO:HP_0001065	Striae distensae	biolink:OntologyClass	hp	MEDDRA:10040925|MSH:D057896|SNOMEDCT_US:201066002|SNOMEDCT_US:201067006|SNOMEDCT_US:47212006|UMLS:C0152459	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.	http://purl.obolibrary.org/obo/HP_0001065	hposlim_core	Stretch marks|Purplish striae|Striae|Striae atrophicae|Striae cutis distensae
OBO:HP_0001067	Neurofibromas	biolink:OntologyClass	hp	MSH:D017253|NCIT:C3272|SNOMEDCT_US:19133005|SNOMEDCT_US:81669005|UMLS:C0162678	The presence of multiple cutaneous neurofibromas.	http://purl.obolibrary.org/obo/HP_0001067		Neurofibromata|Neurofibromatosis|multiple neurofibromas
OBO:HP_0001069	Episodic hyperhidrosis	biolink:OntologyClass	hp	UMLS:C1857171	Intermittent episodes of abnormally increased perspiration.	http://purl.obolibrary.org/obo/HP_0001069		Sporadic excessive sweating|Hyperhidrosis, episodic
OBO:HP_0001070	Mottled pigmentation	biolink:OntologyClass	hp	UMLS:C0860439|UMLS:C4020879	Patchy and irregular skin pigmentation.	http://purl.obolibrary.org/obo/HP_0001070		Mottled skin coloring|Stippled pigmentation
OBO:HP_0001071	Angiokeratoma corporis diffusum	biolink:OntologyClass	hp	MSH:D000795|SNOMEDCT_US:124464003|SNOMEDCT_US:16652001|UMLS:C0002986		http://purl.obolibrary.org/obo/HP_0001071		Fabry syndrome
OBO:HP_0001072	Thickened skin	biolink:OntologyClass	hp	MEDDRA:10040936|SNOMEDCT_US:17417006|SNOMEDCT_US:69943009|UMLS:C0334008|UMLS:C4020878	Laminar thickening of skin.	http://purl.obolibrary.org/obo/HP_0001072	hposlim_core	Thick skin|Thickened skin|Diffusely thickened skin|Pachydermia
OBO:HP_0001073	Cigarette-paper scars	biolink:OntologyClass	hp	UMLS:C1851828	Thin (atrophic) and wide scars.	http://purl.obolibrary.org/obo/HP_0001073	hposlim_core	'cigarette paper scarring'|Cigarette paper scarring|Cigarette-paper scars
OBO:HP_0001074	Atypical nevi in non-sun exposed areas	biolink:OntologyClass	hp	UMLS:C4021837		http://purl.obolibrary.org/obo/HP_0001074		
OBO:HP_0001075	Atrophic scars	biolink:OntologyClass	hp	SNOMEDCT_US:239172000|SNOMEDCT_US:409766009|UMLS:C0162154	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.	http://purl.obolibrary.org/obo/HP_0001075	hposlim_core	Sunken or indented skin due to damage|Thin, atrophic scars
OBO:HP_0001076	Glabellar hemangioma	biolink:OntologyClass	hp	UMLS:C1854408		http://purl.obolibrary.org/obo/HP_0001076		Glabellar capillary hemangioma
OBO:HP_0001080	Biliary tract abnormality	biolink:OntologyClass	hp	MSH:D001660|SNOMEDCT_US:105997008|UMLS:C0005424|UMLS:C0549613	An abnormality of the biliary tree.	http://purl.obolibrary.org/obo/HP_0001080		Biliary tract disease
OBO:HP_0001081	Cholelithiasis	biolink:OntologyClass	hp	MSH:D002769|SNOMEDCT_US:266474003|UMLS:C0008350	Hard, pebble-like deposits that form within the gallbladder.	http://purl.obolibrary.org/obo/HP_0001081		Gallstones
OBO:HP_0001082	Cholecystitis	biolink:OntologyClass	hp	MSH:D002764|SNOMEDCT_US:76581006|UMLS:C0008325	The presence of inflammatory changes in the gallbladder.	http://purl.obolibrary.org/obo/HP_0001082		Gallbladder inflammation
OBO:HP_0001083	Ectopia lentis	biolink:OntologyClass	hp	MSH:D004479|MSH:D007906|SNOMEDCT_US:74969002|UMLS:C0013581|UMLS:C0023309	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.	http://purl.obolibrary.org/obo/HP_0001083	hposlim_core	Abnormality of lens position|Lens dislocation
OBO:HP_0001084	Corneal arcus	biolink:OntologyClass	hp	MSH:D001112|SNOMEDCT_US:111522004|SNOMEDCT_US:231924000|SNOMEDCT_US:231925004|UMLS:C0003742|UMLS:C0339268	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.	http://purl.obolibrary.org/obo/HP_0001084		Anterior embryotoxon|Arcus lipoidis|Arcus senilis|Corneal annulus|Gerontoxon|Arcus juvenilis
OBO:HP_0001085	Papilledema	biolink:OntologyClass	hp	MSH:D010211|SNOMEDCT_US:248487006|SNOMEDCT_US:423341008|SNOMEDCT_US:73221001|UMLS:C0030353	Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure.	http://purl.obolibrary.org/obo/HP_0001085	hposlim_core	
OBO:HP_0001087	Developmental glaucoma	biolink:OntologyClass	hp	MSH:D006871|SNOMEDCT_US:204113001|SNOMEDCT_US:413728006|UMLS:C0020302	Glaucoma which forms during the early years of a child's life is called developmental or congenital glaucoma.	http://purl.obolibrary.org/obo/HP_0001087		Childhood glaucoma|Infantile glaucoma|Pediatric glaucoma
OBO:HP_0001088	Brushfield spots	biolink:OntologyClass	hp	SNOMEDCT_US:400960002|UMLS:C1303007|UMLS:C4280604	The presence of whitish spots in a ring-like arrangement at the periphery of the iris.	http://purl.obolibrary.org/obo/HP_0001088	hposlim_core	Speckled iris|Iris brushfield spots
OBO:HP_0001089	Iris atrophy	biolink:OntologyClass	hp	SNOMEDCT_US:95709007|UMLS:C0423319	Loss of iris tissue (atrophy)	http://purl.obolibrary.org/obo/HP_0001089		Iris degeneration
OBO:HP_0001090	Abnormally large globe	biolink:OntologyClass	hp	SNOMEDCT_US:246920008|UMLS:C0423221|UMLS:C1855852|UMLS:C4280603	Diffusely large eye (with megalocornea) without glaucoma.	http://purl.obolibrary.org/obo/HP_0001090		Increased size of eyes|Large eyes|Large eyeballs|Megalophthalmos|Increased size of palpebral fissures|Large of palpebral fissures
OBO:HP_0001092	Absent lacrimal punctum	biolink:OntologyClass	hp	MSH:C566703|SNOMEDCT_US:204208005|SNOMEDCT_US:253217007|UMLS:C0344509|UMLS:C1867060	No identifiable superior and/or inferior lacrimal punctum.	http://purl.obolibrary.org/obo/HP_0001092	hposlim_core	Absent lacrimal gland puncta|Absent lacrimal openings|Absent lacrimal puncta|Aplasia of lacrimal puncta|Lacrimal puncta aplasia|Lacrimal punctum, absence|Agenesis of the lacrimal punctum
OBO:HP_0001093	Optic nerve dysplasia	biolink:OntologyClass	hp	UMLS:C2676026	The presence of developmental dysplasia of the optic nerve.	http://purl.obolibrary.org/obo/HP_0001093		
OBO:HP_0001094	Iridocyclitis	biolink:OntologyClass	hp	MSH:D015863|SNOMEDCT_US:77971008|UMLS:C0022073	A type of anterior uveitis, in which there is Inflammation of the iris and the ciliary body.	http://purl.obolibrary.org/obo/HP_0001094		
OBO:HP_0001095	Hypertensive retinopathy	biolink:OntologyClass	hp	MSH:D058437|SNOMEDCT_US:6962006|UMLS:C0152132		http://purl.obolibrary.org/obo/HP_0001095	secondary_consequence	
OBO:HP_0001096	Keratoconjunctivitis	biolink:OntologyClass	hp	MSH:D007637|SNOMEDCT_US:88151007|UMLS:C0022573	Inflammation of the cornea and conjunctiva.	http://purl.obolibrary.org/obo/HP_0001096	hposlim_core	
OBO:HP_0001097	Keratoconjunctivitis sicca	biolink:OntologyClass	hp	MSH:C531719|MSH:D007638|MSH:D014985|MSH:D015352|SNOMEDCT_US:302896008|SNOMEDCT_US:363677007|SNOMEDCT_US:46152009|UMLS:C0013238|UMLS:C0022575|UMLS:C0043349|UMLS:C2930821	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.	http://purl.obolibrary.org/obo/HP_0001097	hposlim_core	Dry eyes|Dry eye syndrome|Keratitis sicca|Xerophthalmia
OBO:HP_0001098	Abnormal fundus morphology	biolink:OntologyClass	hp	UMLS:C4025804	Any structural abnormality of the fundus of the eye.	http://purl.obolibrary.org/obo/HP_0001098		Abnormality of the fundus
OBO:HP_0001099	Fundus atrophy	biolink:OntologyClass	hp	UMLS:C2673929		http://purl.obolibrary.org/obo/HP_0001099		
OBO:HP_0001100	Heterochromia iridis	biolink:OntologyClass	hp	MSH:C538115|SNOMEDCT_US:247033008|UMLS:C0423318	Heterochromia iridis is a difference in the color of the iris in the two eyes.	http://purl.obolibrary.org/obo/HP_0001100	hposlim_core	Different colored eyes|Heterochromia irides
OBO:HP_0001101	Iritis	biolink:OntologyClass	hp	MSH:D007500|SNOMEDCT_US:65074000|UMLS:C0022081	Inflammation of the iris.	http://purl.obolibrary.org/obo/HP_0001101		Inflammation of iris
OBO:HP_0001102	Angioid streaks of the fundus	biolink:OntologyClass	hp	MSH:D000793|UMLS:C0002982	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.	http://purl.obolibrary.org/obo/HP_0001102		Angioid streaks|Angioid streaks of the retina|Angioid streaks, retina|Knapp streaks|Laquer cracks of the retina
OBO:HP_0001103	Abnormal macular morphology	biolink:OntologyClass	hp	SNOMEDCT_US:312999006|UMLS:C0730362	A structural abnormality of the macula lutea, which is an oval-shaped highly pigmented yellow spot near the center of the retina.	http://purl.obolibrary.org/obo/HP_0001103	hposlim_core	Abnormality of the macula|Macula abnormality|Macular abnormality
OBO:HP_0001104	Macular hypoplasia	biolink:OntologyClass	hp	UMLS:C1849412	Underdevelopment of the macula lutea.	http://purl.obolibrary.org/obo/HP_0001104	hposlim_core	
OBO:HP_0001105	Retinal atrophy	biolink:OntologyClass	hp	MSH:D012162|SNOMEDCT_US:405722004|SNOMEDCT_US:95695004|UMLS:C0035304|UMLS:C0521694	Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.	http://purl.obolibrary.org/obo/HP_0001105		
OBO:HP_0001106	Periorbital hyperpigmentation	biolink:OntologyClass	hp	UMLS:C1844606	Increased pigmentation of the skin in the region surrounding the orbit of the eye.	http://purl.obolibrary.org/obo/HP_0001106		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
OBO:HP_0001107	Ocular albinism	biolink:OntologyClass	hp	MSH:D016117|SNOMEDCT_US:26399002|UMLS:C0078917	An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina.	http://purl.obolibrary.org/obo/HP_0001107		Absent pigmentation in the eye|Albinism, Ocular
OBO:HP_0001112	Leber optic atrophy	biolink:OntologyClass	hp	MSH:D029242|SNOMEDCT_US:58610003|UMLS:C0917796	Degeneration of retinal ganglion cells and their axons.	http://purl.obolibrary.org/obo/HP_0001112		Leber optic atrophy features|Leber optic degeneration
OBO:HP_0001113	obsolete Early cataracts	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0001113		
OBO:HP_0001114	Xanthelasma	biolink:OntologyClass	hp	MSH:D014973|SNOMEDCT_US:63103006|SNOMEDCT_US:6400008|SNOMEDCT_US:75594004|UMLS:C0155210|UMLS:C0302314|UMLS:C4280601|UMLS:C4280602	The presence of xanthomata in the skin of the eyelid.	http://purl.obolibrary.org/obo/HP_0001114		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
OBO:HP_0001115	Posterior polar cataract	biolink:OntologyClass	hp	UMLS:C1850191	A polar cataract that affects the posterior pole of the lens.	http://purl.obolibrary.org/obo/HP_0001115		Polar cataract, posterior
OBO:HP_0001116	Macular coloboma	biolink:OntologyClass	hp	MSH:C535968|UMLS:C1852767	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.	http://purl.obolibrary.org/obo/HP_0001116		Coloboma of the macula
OBO:HP_0001117	Sudden loss of visual acuity	biolink:OntologyClass	hp	UMLS:C4025803|UMLS:C4072828|UMLS:C4280600	Severe loss of visual acuity within hours or days. This is characteristic of Leber hereditary optic neuropathy.	http://purl.obolibrary.org/obo/HP_0001117		Sudden decrease in vision|Sudden central visual loss
OBO:HP_0001118	Juvenile cataract	biolink:OntologyClass	hp	SNOMEDCT_US:399336001|UMLS:C0302254	A type of cataract that is not apparent at birth but that arises in childhood or adolescence.	http://purl.obolibrary.org/obo/HP_0001118		
OBO:HP_0001119	Keratoglobus	biolink:OntologyClass	hp	UMLS:C3887531	Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea.	http://purl.obolibrary.org/obo/HP_0001119	hposlim_core	
OBO:HP_0001120	Abnormality of corneal size	biolink:OntologyClass	hp	UMLS:C4025802	Any abnormality of the size or morphology of the cornea.	http://purl.obolibrary.org/obo/HP_0001120		
OBO:HP_0001122	obsolete Aplasia/Hypoplasia of the choroid	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0001122		
OBO:HP_0001123	Visual field defect	biolink:OntologyClass	hp	SNOMEDCT_US:12184005|UMLS:C3887875		http://purl.obolibrary.org/obo/HP_0001123		Partial loss of field of vision|Visual field defects
OBO:HP_0001125	Transient unilateral blurring of vision	biolink:OntologyClass	hp	UMLS:C1865332	Transient blurring of vision associated with the aura phase of migraine.	http://purl.obolibrary.org/obo/HP_0001125		Hemianoptic blurring of vision|Transient unilateral blurred vision|Hemianopic blurring
OBO:HP_0001126	Cryptophthalmos	biolink:OntologyClass	hp	SNOMEDCT_US:400951005|UMLS:C0311249	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.	http://purl.obolibrary.org/obo/HP_0001126	hposlim_core	
OBO:HP_0001128	Trichiasis	biolink:OntologyClass	hp	MSH:D058457|SNOMEDCT_US:60332004|UMLS:C0221259	Inversion and rubbing of the eyelashes against the globe of the eye.	http://purl.obolibrary.org/obo/HP_0001128		Ingrown eyelashes|Introversion of eyelashes|Trichiasis of eyelid eyelashes
OBO:HP_0001129	Large central visual field defect	biolink:OntologyClass	hp	UMLS:C4025800		http://purl.obolibrary.org/obo/HP_0001129		Large central loss of field of vision
OBO:HP_0001131	Corneal dystrophy	biolink:OntologyClass	hp	SNOMEDCT_US:5587004|UMLS:C0010036	An abnormality of the cornea that is characterized by opacity of one or parts of the cornea.	http://purl.obolibrary.org/obo/HP_0001131	hposlim_core	
OBO:HP_0001132	Lens subluxation	biolink:OntologyClass	hp	MSH:D007906|SNOMEDCT_US:65814009|UMLS:C0023316	Partial dislocation of the lens of the eye.	http://purl.obolibrary.org/obo/HP_0001132		Partially dislocated lens
OBO:HP_0001133	Constriction of peripheral visual field	biolink:OntologyClass	hp	SNOMEDCT_US:1151008|SNOMEDCT_US:267628004|UMLS:C0235095	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.	http://purl.obolibrary.org/obo/HP_0001133		Limited peripheral vision|Concentric narrowing of visual field|Constricted visual field|Constricted visual fields|Visual field constriction
OBO:HP_0001134	Anterior polar cataract	biolink:OntologyClass	hp	MSH:C538282|UMLS:C1855179	A polar cataract that affects the anterior pole of the lens.	http://purl.obolibrary.org/obo/HP_0001134		Polar cataract, anterior
OBO:HP_0001135	Chorioretinal dystrophy	biolink:OntologyClass	hp	UMLS:C1857627		http://purl.obolibrary.org/obo/HP_0001135		
OBO:HP_0001136	Retinal arteriolar tortuosity	biolink:OntologyClass	hp	UMLS:C1843517	The presence of an increased number of twists and turns of the retinal arterioles.	http://purl.obolibrary.org/obo/HP_0001136		Tortuous retinal arterioles
OBO:HP_0001137	Alternating esotropia	biolink:OntologyClass	hp	SNOMEDCT_US:39837002|UMLS:C0152205	Esotropia in which either eye may be used for fixation.	http://purl.obolibrary.org/obo/HP_0001137		Alternating cross eyes
OBO:HP_0001138	Optic neuropathy	biolink:OntologyClass	hp	SNOMEDCT_US:82108004|UMLS:C3887709		http://purl.obolibrary.org/obo/HP_0001138		Damaged optic nerve
OBO:HP_0001139	Choroideremia	biolink:OntologyClass	hp	MSH:D015794|SNOMEDCT_US:75241009|UMLS:C0008525		http://purl.obolibrary.org/obo/HP_0001139		
OBO:HP_0001140	Limbal dermoid	biolink:OntologyClass	hp	SNOMEDCT_US:5131000119107|SNOMEDCT_US:92097004|UMLS:C0496897|UMLS:C1867616	A benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid).	http://purl.obolibrary.org/obo/HP_0001140	hposlim_core	Benign eye tumor|Epibulbar dermoids|Epibulbar dermoid
OBO:HP_0001141	Severely reduced visual acuity	biolink:OntologyClass	hp	SNOMEDCT_US:397541004|UMLS:C1301509	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).	http://purl.obolibrary.org/obo/HP_0001141		Marked vision impairment|Severe visual impairment|Severely impaired vision|Severe reduction in visual acuity|Severe vision loss|Severe visual loss
OBO:HP_0001142	Lenticonus	biolink:OntologyClass	hp	SNOMEDCT_US:253221000|UMLS:C0239119	A conical projection of the anterior or posterior surface of the lens, occurring as a developmental anomaly.	http://purl.obolibrary.org/obo/HP_0001142	hposlim_core	
OBO:HP_0001144	Orbital cyst	biolink:OntologyClass	hp	SNOMEDCT_US:31021007|UMLS:C0155285	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).	http://purl.obolibrary.org/obo/HP_0001144		Cyst of eye socket|Orbital cysts
OBO:HP_0001145	obsolete Chorioretinopathy	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0001145		
OBO:HP_0001146	obsolete Pigmentary retinal degeneration	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0001146		
OBO:HP_0001147	Retinal exudate	biolink:OntologyClass	hp	SNOMEDCT_US:39832008|UMLS:C0240897	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.	http://purl.obolibrary.org/obo/HP_0001147		Retinal exudates
OBO:HP_0001149	Lattice corneal dystrophy	biolink:OntologyClass	hp	MSH:D028227|SNOMEDCT_US:1192004|SNOMEDCT_US:361199007|UMLS:C0155127	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.	http://purl.obolibrary.org/obo/HP_0001149		Biber haab dimmer dystrophy
OBO:HP_0001150	obsolete Choroidal sclerosis	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0001150		
OBO:HP_0001151	Impaired horizontal smooth pursuit	biolink:OntologyClass	hp	UMLS:C1866753	An abnormality of ocular smooth pursuit characterized by an impairment of the ability to track horizontally moving objects.	http://purl.obolibrary.org/obo/HP_0001151		Abnormal horizontal ocular pursuit|Impaired horizontal visual pursuit
OBO:HP_0001152	Saccadic smooth pursuit	biolink:OntologyClass	hp	UMLS:C1836479	An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements.	http://purl.obolibrary.org/obo/HP_0001152		Saccadic pursuit movements|Saccadic slow pursuit
OBO:HP_0001153	Septate vagina	biolink:OntologyClass	hp	SNOMEDCT_US:47054003|UMLS:C0266411	The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases.	http://purl.obolibrary.org/obo/HP_0001153		Double vagina
OBO:HP_0001155	Abnormality of the hand	biolink:OntologyClass	hp	MSH:D006226|SNOMEDCT_US:299033004|UMLS:C0018564	An abnormality affecting one or both hands.	http://purl.obolibrary.org/obo/HP_0001155	hposlim_core	Abnormal hands|Abnormality of the hand|Hand anomalies|Hand deformities
OBO:HP_0001156	Brachydactyly	biolink:OntologyClass	hp	MSH:D059327|SNOMEDCT_US:43476002|UMLS:C0221357	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.	http://purl.obolibrary.org/obo/HP_0001156		Short fingers or toes|Brachydactyly syndrome
OBO:HP_0001159	Syndactyly	biolink:OntologyClass	hp	Fyler:4174|MSH:D013576|SNOMEDCT_US:373413006|UMLS:C0039075	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".	http://purl.obolibrary.org/obo/HP_0001159		Webbed fingers or toes
OBO:HP_0001161	Hand polydactyly	biolink:OntologyClass	hp	MEDDRA:10036064|SNOMEDCT_US:81793007|UMLS:C0158733	A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.	http://purl.obolibrary.org/obo/HP_0001161	hposlim_core	Extra finger|Finger polydactyly|Polydactyly of the hand|Supernumerary finger
OBO:HP_0001162	Postaxial hand polydactyly	biolink:OntologyClass	hp	SNOMEDCT_US:205131007|UMLS:C0431904	Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).	http://purl.obolibrary.org/obo/HP_0001162	hposlim_core	Extra little finger|Extra pinkie finger|Extra pinky finger|Polydactyly affecting the 5th finger|Postaxial polydactyly of fingers|Postaxial polydactyly of hand|Postaxial polydactyly of hands
OBO:HP_0001163	Abnormality of the metacarpal bones	biolink:OntologyClass	hp	UMLS:C4021785	An abnormality of the metacarpal bones.	http://purl.obolibrary.org/obo/HP_0001163		Abnormality of the long bone of hand|Anomaly of the metacarpal bones
OBO:HP_0001166	Arachnodactyly	biolink:OntologyClass	hp	MSH:D054119|SNOMEDCT_US:62250003|UMLS:C0003706	Abnormally long and slender fingers ("spider fingers").	http://purl.obolibrary.org/obo/HP_0001166		Long slender fingers|Spider fingers|Long, slender fingers
OBO:HP_0001167	Abnormality of finger	biolink:OntologyClass	hp	UMLS:C2674737	An anomaly of a finger.	http://purl.obolibrary.org/obo/HP_0001167		Abnormalities of the fingers|Abnormality of finger
OBO:HP_0001169	Broad palm	biolink:OntologyClass	hp	SNOMEDCT_US:48251003|UMLS:C0264142	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.	http://purl.obolibrary.org/obo/HP_0001169		Broad hand|Broad hands|Broad palm|Wide palm
OBO:HP_0001171	Split hand	biolink:OntologyClass	hp	SNOMEDCT_US:299034005|UMLS:C0221373	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.	http://purl.obolibrary.org/obo/HP_0001171		Claw hand|Claw hand deformities|Claw hands|Claw-hand deformities|Split hand|Split-hand|Ectrodactyly of the hand|Hand ectrodactyly
OBO:HP_0001172	Abnormal thumb morphology	biolink:OntologyClass	hp	MSH:C536903|SNOMEDCT_US:299130003|UMLS:C0575897	An abnormal structure of the first digit of the hand.	http://purl.obolibrary.org/obo/HP_0001172		Abnormality of the thumb|Abnormality of the thumbs|Thumb deformity
OBO:HP_0001176	Large hands	biolink:OntologyClass	hp	SNOMEDCT_US:249752003|UMLS:C0426870		http://purl.obolibrary.org/obo/HP_0001176		Large hands|large hand|Disproportionately large hands
OBO:HP_0001177	Preaxial hand polydactyly	biolink:OntologyClass	hp	MSH:C536332|SNOMEDCT_US:205135003|SNOMEDCT_US:445216006|UMLS:C1395852	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.	http://purl.obolibrary.org/obo/HP_0001177		Extra thumb|Polydactyly affecting the thumb|Preaxial polydactyly of hands|Supernumerary thumb|thumb polydactyly
OBO:HP_0001178	Ulnar claw	biolink:OntologyClass	hp	UMLS:C4025799	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.	http://purl.obolibrary.org/obo/HP_0001178		
OBO:HP_0001180	Hand oligodactyly	biolink:OntologyClass	hp	SNOMEDCT_US:71358006|UMLS:C0728895	A developmental defect resulting in the presence of fewer than the normal number of fingers.	http://purl.obolibrary.org/obo/HP_0001180		Hand has less than 5 fingers
OBO:HP_0001181	Adducted thumb	biolink:OntologyClass	hp	UMLS:C3554617	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.	http://purl.obolibrary.org/obo/HP_0001181		Inward turned thumb|Adducted thumbs
OBO:HP_0001182	Tapered finger	biolink:OntologyClass	hp	SNOMEDCT_US:249768009|UMLS:C0426886	The gradual reduction in girth of the finger from proximal to distal.	http://purl.obolibrary.org/obo/HP_0001182	hposlim_core	Tapered finger|Tapered fingertips|Tapering fingers|Distally tapering fingers|Tapered fingers
OBO:HP_0001187	Hyperextensibility of the finger joints	biolink:OntologyClass	hp	UMLS:C1844577	The ability of the finger joints to move beyond their normal range of motion.	http://purl.obolibrary.org/obo/HP_0001187		Finger joint hyperextensibility|Hyperextensible digits|Hyperextensible finger|Hyperextensible fingers
OBO:HP_0001188	Hand clenching	biolink:OntologyClass	hp	UMLS:C0239815	An abnormal hand posture in which the hands are clenched to fists. All digits held completely flexed at the metacarpophalangeal and interphalangeal joints.	http://purl.obolibrary.org/obo/HP_0001188	hposlim_core	Clenched hands|Hand clenching
OBO:HP_0001191	Abnormality of the carpal bones	biolink:OntologyClass	hp	UMLS:C1840535	An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate).	http://purl.obolibrary.org/obo/HP_0001191	hposlim_core	Abnormal wrist bones|Abnormal carpal bones|Anomalous carpal bones|Carpal bone anomalies
OBO:HP_0001193	Ulnar deviation of the hand or of fingers of the hand	biolink:OntologyClass	hp	UMLS:C4048199		http://purl.obolibrary.org/obo/HP_0001193		
OBO:HP_0001194	Abnormalities of placenta or umbilical cord	biolink:OntologyClass	hp	UMLS:C4025798	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).	http://purl.obolibrary.org/obo/HP_0001194		Abnormalities of placenta or umbilical cord
OBO:HP_0001195	Single umbilical artery	biolink:OntologyClass	hp	MSH:D058529|SNOMEDCT_US:204470001|UMLS:C1384670	Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord.	http://purl.obolibrary.org/obo/HP_0001195		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
OBO:HP_0001196	Short umbilical cord	biolink:OntologyClass	hp	SNOMEDCT_US:59795007|UMLS:C0266786	Decreased length of the umbilical cord.	http://purl.obolibrary.org/obo/HP_0001196		Short umbilical cord
OBO:HP_0001197	Abnormality of prenatal development or birth	biolink:OntologyClass	hp	UMLS:C4025797	An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities.	http://purl.obolibrary.org/obo/HP_0001197		Abnormality of prenatal development or birth
OBO:HP_0001199	Triphalangeal thumb	biolink:OntologyClass	hp	MSH:C573898|SNOMEDCT_US:205308004|UMLS:C0241397	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.	http://purl.obolibrary.org/obo/HP_0001199	hposlim_core	Finger-like thumb|Accessory phalanx of the thumb|Digitalized thumb|Triphalangeal thumbs|Triphalangy of thumb
OBO:HP_0001204	Distal symphalangism of hands	biolink:OntologyClass	hp	UMLS:C1862158	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.	http://purl.obolibrary.org/obo/HP_0001204		Fused outermost bones of hand|Symphalangism affecting the distal phalanges of the hand|Synostosis of distal phalanges|Terminal symphalangism
OBO:HP_0001211	Abnormal fingertip morphology	biolink:OntologyClass	hp	UMLS:C4025796	An abnormal structure of the tip (end) of a finger.	http://purl.obolibrary.org/obo/HP_0001211		Abnormality of the fingertips
OBO:HP_0001212	Prominent fingertip pads	biolink:OntologyClass	hp	UMLS:C1835807	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.	http://purl.obolibrary.org/obo/HP_0001212	hposlim_core	Prominent finger pads|Prominent fingertip pads|Persistence of fingerpads|Persistent fetal fingertip pads
OBO:HP_0001215	Camptodactyly of 2nd-5th fingers	biolink:OntologyClass	hp	UMLS:C1859368	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.	http://purl.obolibrary.org/obo/HP_0001215		
OBO:HP_0001216	Delayed ossification of carpal bones	biolink:OntologyClass	hp	UMLS:C1841684|UMLS:C4280599	Ossification of carpal bones occurs later than age-adjusted norms.	http://purl.obolibrary.org/obo/HP_0001216	hposlim_core	Delayed maturation of wrist bone|Carpal delayed ossification|Delayed carpal bone age|Delayed carpal ossification|Delayed maturation of carpal bones
OBO:HP_0001217	Clubbing	biolink:OntologyClass	hp	SNOMEDCT_US:367004|UMLS:C0149651	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.	http://purl.obolibrary.org/obo/HP_0001217		Clubbing of fingers and toes|Digital clubbing
OBO:HP_0001218	Autoamputation	biolink:OntologyClass	hp	UMLS:C1833222	Spontaneous detachment (amputation) of an appendage from the body.	http://purl.obolibrary.org/obo/HP_0001218		
OBO:HP_0001220	Interphalangeal joint contracture of finger	biolink:OntologyClass	hp	UMLS:C4021784	Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue.	http://purl.obolibrary.org/obo/HP_0001220		Interphalangeal joint flexion contractures
OBO:HP_0001222	Spatulate thumbs	biolink:OntologyClass	hp	UMLS:C0241395	Spoon-shaped, broad thumbs.	http://purl.obolibrary.org/obo/HP_0001222		Spoon shaped thumbs
OBO:HP_0001223	Pointed proximal second through fifth metacarpals	biolink:OntologyClass	hp	UMLS:C1854787	All of the metacarpal bones of the hand have a pointed proximal appearance.	http://purl.obolibrary.org/obo/HP_0001223		
OBO:HP_0001225	Wrist swelling	biolink:OntologyClass	hp	UMLS:C0241760		http://purl.obolibrary.org/obo/HP_0001225		Wrist swelling
OBO:HP_0001226	obsolete Acral ulceration and osteomyelitis leading to autoamputation of digits	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0001226		
OBO:HP_0001227	Abnormality of the thenar eminence	biolink:OntologyClass	hp	UMLS:C4021783	An abnormality of the thenar eminence, i.e., of the muscle on the palm of the human hand just beneath the thumb.	http://purl.obolibrary.org/obo/HP_0001227		Thenar abnormality
OBO:HP_0001230	Broad metacarpals	biolink:OntologyClass	hp	UMLS:C1842229	Abnormally broad metacarpal bones.	http://purl.obolibrary.org/obo/HP_0001230	hposlim_core	Wide long bones of hand|Wide metacarpals
OBO:HP_0001231	Abnormal fingernail morphology	biolink:OntologyClass	hp	UMLS:C4021782	An abnormality of the fingernails.	http://purl.obolibrary.org/obo/HP_0001231		Abnormal fingernails|Abnormality of the fingernails
OBO:HP_0001232	Nail bed telangiectasia	biolink:OntologyClass	hp	UMLS:C1838167	Telangiectases in the area of the nails.	http://purl.obolibrary.org/obo/HP_0001232		Nail bed telangiectases
OBO:HP_0001233	2-3 finger syndactyly	biolink:OntologyClass	hp	SNOMEDCT_US:205139009|UMLS:C0432055	Syndactyly with fusion of fingers two and three.	http://purl.obolibrary.org/obo/HP_0001233		Webbed 2nd-3rd fingers|Syndactyly 2nd-3rd fingers|Syndactyly, 2-3 finger
OBO:HP_0001234	Hitchhiker thumb	biolink:OntologyClass	hp	UMLS:C1857269	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.	http://purl.obolibrary.org/obo/HP_0001234	hposlim_core	Hitchhiker thumb|Abducted thumb
OBO:HP_0001238	Slender finger	biolink:OntologyClass	hp	UMLS:C1857482	Fingers that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual.	http://purl.obolibrary.org/obo/HP_0001238	hposlim_core	Narrow fingers|Slender finger|Slender fingers|thin fingers
OBO:HP_0001239	Wrist flexion contracture	biolink:OntologyClass	hp	SNOMEDCT_US:202275008|UMLS:C0409345	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.	http://purl.obolibrary.org/obo/HP_0001239		Wrist contracture|Wrist flexion deformity
OBO:HP_0001241	Capitate-hamate fusion	biolink:OntologyClass	hp	UMLS:C1857002		http://purl.obolibrary.org/obo/HP_0001241		Capitate-hamate fusions|Fused capitate and hamate|Fusion of capitate and hamate|Fusion of hamate and capitate
OBO:HP_0001245	Small thenar eminence	biolink:OntologyClass	hp	UMLS:C1846474	Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb.	http://purl.obolibrary.org/obo/HP_0001245	hposlim_core	Decreased thenar eminence|Hypoplastic thenar eminences|Thenar hypoplasia|Thenar muscle hypoplasia
OBO:HP_0001248	Short tubular bones of the hand	biolink:OntologyClass	hp	UMLS:C4025795	Decreased length of the tubular bones of the hand, that is, the phalanges and metacarpals.	http://purl.obolibrary.org/obo/HP_0001248		Shortened short tubular bones of the hand
OBO:HP_0001249	Intellectual disability	biolink:OntologyClass	hp	MSH:D008607|SNOMEDCT_US:228156007|SNOMEDCT_US:247578003|SNOMEDCT_US:91138005|UMLS:C0025362|UMLS:C0423903|UMLS:C0917816|UMLS:C1843367|UMLS:C3714756|UMLS:C4020876	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.	http://purl.obolibrary.org/obo/HP_0001249		Intellectual disability|Mental deficiency|Mental retardation|Mental retardation, nonspecific|Mental-retardation|Low intelligence|Poor school performance|Nonprogressive intellectual disability|Nonprogressive mental retardation|Dull intelligence
OBO:HP_0001250	Seizure	biolink:OntologyClass	hp	MSH:D004827|MSH:D012640|SNOMEDCT_US:128613002|SNOMEDCT_US:246545002|SNOMEDCT_US:313307000|SNOMEDCT_US:84757009|SNOMEDCT_US:91175000|UMLS:C0014544|UMLS:C0036572	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.	http://purl.obolibrary.org/obo/HP_0001250		Seizures|Seizures|Epilepsy|Epileptic seizure
OBO:HP_0001251	Ataxia	biolink:OntologyClass	hp	MSH:D002524|SNOMEDCT_US:85102008|UMLS:C0007758	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).	http://purl.obolibrary.org/obo/HP_0001251		Cerebellar ataxia
OBO:HP_0001252	Hypotonia	biolink:OntologyClass	hp	MSH:D009123|SNOMEDCT_US:398151007|SNOMEDCT_US:398152000|UMLS:C0026827	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.	http://purl.obolibrary.org/obo/HP_0001252		Low muscle tone|Low or weak muscle tone|Muscle hypotonia|Muscular hypotonia|Central hypotonia|Peripheral hypotonia
OBO:HP_0001254	Lethargy	biolink:OntologyClass	hp	MSH:D053609|SNOMEDCT_US:214264003|UMLS:C0023380	A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating.	http://purl.obolibrary.org/obo/HP_0001254		Lethargy
OBO:HP_0001256	Intellectual disability, mild	biolink:OntologyClass	hp	SNOMEDCT_US:86765009|UMLS:C0026106	Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.	http://purl.obolibrary.org/obo/HP_0001256		Intellectual disability, mild|Mental retardation, borderline-mild|Mild and nonprogressive mental retardation|Mild mental retardation|Mental retardation, mild
OBO:HP_0001257	Spasticity	biolink:OntologyClass	hp	MSH:D009128|SNOMEDCT_US:221360009|SNOMEDCT_US:397790002|UMLS:C0026838	A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.	http://purl.obolibrary.org/obo/HP_0001257		Involuntary muscle stiffness, contraction, or spasm|Muscle spasticity|Muscular spasticity
OBO:HP_0001258	Spastic paraplegia	biolink:OntologyClass	hp	MSH:D010264|SNOMEDCT_US:192967009|UMLS:C0037772	Spasticity and weakness of the leg and hip muscles.	http://purl.obolibrary.org/obo/HP_0001258		Spastic paraplegia, lower limb
OBO:HP_0001259	Coma	biolink:OntologyClass	hp	ICD-10:R40.2|MSH:D003128|SNOMEDCT_US:371632003|UMLS:C0009421	Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli.	http://purl.obolibrary.org/obo/HP_0001259		Coma
OBO:HP_0001260	Dysarthria	biolink:OntologyClass	hp	MSH:D004401|SNOMEDCT_US:8011004|UMLS:C0013362	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.	http://purl.obolibrary.org/obo/HP_0001260		Difficulty articulating speech|Dysarthric speech
OBO:HP_0001262	Excessive daytime somnolence	biolink:OntologyClass	hp	SNOMEDCT_US:271782001|SNOMEDCT_US:79519003|UMLS:C2830004	A state of abnormally strong desire for sleep during the daytime.	http://purl.obolibrary.org/obo/HP_0001262		Excessive daytime sleepiness|More than typical sleepiness during day
OBO:HP_0001263	Global developmental delay	biolink:OntologyClass	hp	SNOMEDCT_US:224958001|UMLS:C0557874|UMLS:C1864897|UMLS:C4020875	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.	http://purl.obolibrary.org/obo/HP_0001263		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
OBO:HP_0001264	Spastic diplegia	biolink:OntologyClass	hp	MSH:D002547|SNOMEDCT_US:281411007|UMLS:C0023882	Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis.	http://purl.obolibrary.org/obo/HP_0001264		
OBO:HP_0001265	Hyporeflexia	biolink:OntologyClass	hp	SNOMEDCT_US:405946002|UMLS:C0700078	Reduction of neurologic reflexes such as the knee-jerk reaction.	http://purl.obolibrary.org/obo/HP_0001265		Decreased reflex response|Decreased reflexes
OBO:HP_0001266	Choreoathetosis	biolink:OntologyClass	hp	SNOMEDCT_US:43105007|UMLS:C0085583|UMLS:C0234967	Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).	http://purl.obolibrary.org/obo/HP_0001266		Choreoathetoid movements
OBO:HP_0001268	Mental deterioration	biolink:OntologyClass	hp	MSH:D060825|UMLS:C0234985	Loss of previously present mental abilities, generally in adults.	http://purl.obolibrary.org/obo/HP_0001268		Cognitive decline|Cognitive decline, progressive|Intellectual deterioration|Mental deterioration|Progressive cognitive decline
OBO:HP_0001269	Hemiparesis	biolink:OntologyClass	hp	MSH:D010291|SNOMEDCT_US:127377003|SNOMEDCT_US:20022000|UMLS:C0018989	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.	http://purl.obolibrary.org/obo/HP_0001269		Weakness of one side of body
OBO:HP_0001270	Motor delay	biolink:OntologyClass	hp	UMLS:C1854301|UMLS:C4020874	A type of Developmental delay characterized by a delay in acquiring motor skills.	http://purl.obolibrary.org/obo/HP_0001270		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
OBO:HP_0001271	Polyneuropathy	biolink:OntologyClass	hp	MSH:D010523|MSH:D011115|SNOMEDCT_US:302226006|SNOMEDCT_US:42345000|SNOMEDCT_US:42658009|UMLS:C0031117|UMLS:C0152025	A generalized disorder of peripheral nerves.	http://purl.obolibrary.org/obo/HP_0001271		Peripheral nerve disease
OBO:HP_0001272	Cerebellar atrophy	biolink:OntologyClass	hp	SNOMEDCT_US:95646004|UMLS:C0262404|UMLS:C0740279|UMLS:C4020873	Atrophy (wasting) of the cerebellum.	http://purl.obolibrary.org/obo/HP_0001272		Degeneration of cerebellum|Atrophic cerebellum|Infratentorial atrophy
OBO:HP_0001273	Abnormal corpus callosum morphology	biolink:OntologyClass	hp	UMLS:C1842581	Abnormality of the corpus callosum.	http://purl.obolibrary.org/obo/HP_0001273		Abnormal corpus callosum|Abnormality of the corpus callosum|Corpus callosum abnormality
OBO:HP_0001274	Agenesis of corpus callosum	biolink:OntologyClass	hp	Fyler:4321|MSH:D061085|SNOMEDCT_US:5102002|UMLS:C0175754	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.	http://purl.obolibrary.org/obo/HP_0001274		Absence of corpus callosum|Absent corpus callosum|Agenesis of the corpus callosum|Callosal agenesis|Corpus callosum agenesis|Dysplastic or absent corpus callosum
OBO:HP_0001276	Hypertonia	biolink:OntologyClass	hp	MSH:D009122|SNOMEDCT_US:41581000|SNOMEDCT_US:56731001|UMLS:C0026826	A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.	http://purl.obolibrary.org/obo/HP_0001276		Spasticity and rigidity of muscles|Hypertonicity|Increased muscle tone|Muscle hypertonia
OBO:HP_0001278	Orthostatic hypotension	biolink:OntologyClass	hp	MSH:D007024|SNOMEDCT_US:28651003|UMLS:C0020651	A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position.	http://purl.obolibrary.org/obo/HP_0001278		Decrease in blood pressure upon standing up|Postural hypotension
OBO:HP_0001279	Syncope	biolink:OntologyClass	hp	MSH:D013575|SNOMEDCT_US:271594007|SNOMEDCT_US:272030005|SNOMEDCT_US:309585006|UMLS:C0039070	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.	http://purl.obolibrary.org/obo/HP_0001279		Fainting spell
OBO:HP_0001281	Tetany	biolink:OntologyClass	hp	MSH:D013746|SNOMEDCT_US:10629009|UMLS:C0039621	A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency.	http://purl.obolibrary.org/obo/HP_0001281		Intermittent involuntary muscle spasm
OBO:HP_0001283	Bulbar palsy	biolink:OntologyClass	hp	MSH:D010244|SNOMEDCT_US:398432008|UMLS:C1301959|UMLS:C4082299	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.	http://purl.obolibrary.org/obo/HP_0001283		Bulbar muscle weakness|Bulbar palsies|Bulbar weakness
OBO:HP_0001284	Areflexia	biolink:OntologyClass	hp	MSH:D012021|SNOMEDCT_US:349006|SNOMEDCT_US:37280007|UMLS:C0234146|UMLS:C0241772|UMLS:C0278124	Absence of neurologic reflexes such as the knee-jerk reaction.	http://purl.obolibrary.org/obo/HP_0001284		Absent reflexes|Absent tendon reflexes|Absent deep tendon reflexes|Deep tendon reflexes absent|Loss of deep tendon reflexes
OBO:HP_0001285	Spastic tetraparesis	biolink:OntologyClass	hp	SNOMEDCT_US:298282001|UMLS:C0575059	Spastic weakness affecting all four limbs.	http://purl.obolibrary.org/obo/HP_0001285		Spastic quadriparesis
OBO:HP_0001287	Meningitis	biolink:OntologyClass	hp	MSH:D008581|SNOMEDCT_US:7180009|UMLS:C0025289	Inflammation of the meninges.	http://purl.obolibrary.org/obo/HP_0001287		
OBO:HP_0001288	Gait disturbance	biolink:OntologyClass	hp	SNOMEDCT_US:22325002|UMLS:C0575081	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.	http://purl.obolibrary.org/obo/HP_0001288		Abnormal gait|Abnormal walk|Impaired gait|Gait abnormalities|Gait difficulties|Gait disturbances
OBO:HP_0001289	Confusion	biolink:OntologyClass	hp	MSH:D003221|SNOMEDCT_US:286933003|UMLS:C0009676	Lack of clarity and coherence of thought, perception, understanding, or action.	http://purl.obolibrary.org/obo/HP_0001289		Confusion|Disorientation|Easily confused|Mental disorientation
OBO:HP_0001290	Generalized hypotonia	biolink:OntologyClass	hp	UMLS:C1858120	Generalized muscular hypotonia (abnormally low muscle tone).	http://purl.obolibrary.org/obo/HP_0001290		Generalized decreased muscle tone|Generalised hypotonia|Generalized muscular hypotonia|Hypotonia, generalized
OBO:HP_0001291	Abnormal cranial nerve morphology	biolink:OntologyClass	hp	UMLS:C1854510|UMLS:C4020872	Structural abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem.	http://purl.obolibrary.org/obo/HP_0001291		Abnormality of cranial nerve|Abnormality of the cranial nerves|Cranial nerve disease|Cranial nerve involvement|Cranial nerve abnormality
OBO:HP_0001293	Cranial nerve compression	biolink:OntologyClass	hp	SNOMEDCT_US:95664006|UMLS:C0521670		http://purl.obolibrary.org/obo/HP_0001293		
OBO:HP_0001297	Stroke	biolink:OntologyClass	hp	MSH:D020521|SNOMEDCT_US:230690007|UMLS:C0038454	Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.	http://purl.obolibrary.org/obo/HP_0001297		Stroke|Cerebral vascular events|Cerebrovascular accident|Cerebrovascular accidents
OBO:HP_0001298	Encephalopathy	biolink:OntologyClass	hp	MSH:D001927|SNOMEDCT_US:81308009|UMLS:C0085584	Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.	http://purl.obolibrary.org/obo/HP_0001298		
OBO:HP_0001300	Parkinsonism	biolink:OntologyClass	hp	MSH:D020734|SNOMEDCT_US:32798002|UMLS:C0242422	Characteristic neurologic anomaly resulting form degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.	http://purl.obolibrary.org/obo/HP_0001300		Parkinsonian disease
OBO:HP_0001301	Chronic sensorineural polyneuropathy	biolink:OntologyClass	hp	UMLS:C4025794		http://purl.obolibrary.org/obo/HP_0001301		
OBO:HP_0001302	Pachygyria	biolink:OntologyClass	hp	MSH:D054082|SNOMEDCT_US:23024003|UMLS:C0266483	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.	http://purl.obolibrary.org/obo/HP_0001302		Fewer and broader ridges in brain|Cerebral pachygyria
OBO:HP_0001304	Torsion dystonia	biolink:OntologyClass	hp	MSH:D004422|SNOMEDCT_US:22451001|SNOMEDCT_US:431034009|UMLS:C0013423	Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body.	http://purl.obolibrary.org/obo/HP_0001304		Dystonia musculorum deformans
OBO:HP_0001305	Dandy-Walker malformation	biolink:OntologyClass	hp	MSH:D003616|SNOMEDCT_US:14447001|UMLS:C0010964	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.	http://purl.obolibrary.org/obo/HP_0001305		Dandy-Walker cyst|Dandy-walker anomaly
OBO:HP_0001308	Tongue fasciculations	biolink:OntologyClass	hp	MSH:D005207|SNOMEDCT_US:249878001|UMLS:C0239548	Fasciculations or fibrillation affecting the tongue muscle.	http://purl.obolibrary.org/obo/HP_0001308		Tongue twitching|Twitching of the tongue|Lingual fasciculations|Lingual fibrillations|Lingual twitching|Tongue fasciculation|Tongue fasciculations/fibrillations
OBO:HP_0001310	Dysmetria	biolink:OntologyClass	hp	MSH:D002524|SNOMEDCT_US:32566006|UMLS:C0234162	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.	http://purl.obolibrary.org/obo/HP_0001310		Lack of coordination of movement|Abnormal finger chase test|Abnormal finger-nose-finger test
OBO:HP_0001311	Abnormal nervous system electrophysiology	biolink:OntologyClass	hp	UMLS:C4021781	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.	http://purl.obolibrary.org/obo/HP_0001311		Neurophysiologic abnormalities|Neurophysiologic abnormality
OBO:HP_0001312	Giant somatosensory evoked potentials	biolink:OntologyClass	hp	UMLS:C3806961	An abnormal enlargement (i.e. increase in measured voltage) of somatosensory evoked potentials.	http://purl.obolibrary.org/obo/HP_0001312		Giant SEPS
OBO:HP_0001315	Reduced tendon reflexes	biolink:OntologyClass	hp	UMLS:C1866934	Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.	http://purl.obolibrary.org/obo/HP_0001315		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
OBO:HP_0001317	Abnormal cerebellum morphology	biolink:OntologyClass	hp	UMLS:C0742038|UMLS:C1866129	Any structural abnormality of the cerebellum.	http://purl.obolibrary.org/obo/HP_0001317		Abnormality of the cerebellum|Cerebellar abnormalities|Cerebellar abnormality|Cerebellar anomaly|Cerebellar signs
OBO:HP_0001319	Neonatal hypotonia	biolink:OntologyClass	hp	MSH:D009123|SNOMEDCT_US:205294008|UMLS:C2267233	Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.	http://purl.obolibrary.org/obo/HP_0001319		Low muscle tone, in neonatal onset|Hypotonia, in neonatal onset|Hypotonia, neonatal|Congenital hypotonia
OBO:HP_0001320	Cerebellar vermis hypoplasia	biolink:OntologyClass	hp	UMLS:C1840379	Underdevelopment of the vermis of cerebellum.	http://purl.obolibrary.org/obo/HP_0001320		Cerebellar vermal hypoplasia|Hypoplasia of the cerebellar vermis|Hypoplastic cerebellar vermis
OBO:HP_0001321	Cerebellar hypoplasia	biolink:OntologyClass	hp	MSH:C562568|SNOMEDCT_US:16026008|UMLS:C0266470	Underdevelopment of the cerebellum.	http://purl.obolibrary.org/obo/HP_0001321		Small cerebellum|Underdeveloped cerebellum|Congenital cerebellar hypoplasia|Hypoplasia of cerebellum|Hypoplastic cerebellum
OBO:HP_0001322	obsolete Brain very small	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0001322		
OBO:HP_0001324	Muscle weakness	biolink:OntologyClass	hp	MSH:D018908|SNOMEDCT_US:26544005|UMLS:C0151786	Reduced strength of muscles.	http://purl.obolibrary.org/obo/HP_0001324		Muscle weakness|Muscular weakness
OBO:HP_0001325	Hypoglycemic coma	biolink:OntologyClass	hp	SNOMEDCT_US:267384006|UMLS:C0020617		http://purl.obolibrary.org/obo/HP_0001325		Coma caused by low blood sugar|Coma, hypoglycemic|Hypoglycaemic coma|Loss of consciousness due to hypoglycemia
OBO:HP_0001326	EEG with irregular generalized spike and wave complexes	biolink:OntologyClass	hp	UMLS:C4025792	EEG shows spikes (<80 ms) and waves, which are recorded over the entire scalp and do not have a specific frequency.	http://purl.obolibrary.org/obo/HP_0001326		EEG with irregular generalised spike and wave complexes
OBO:HP_0001327	Photosensitive myoclonic seizure	biolink:OntologyClass	hp	UMLS:C4025791	Generalised myoclonic seizure provoked by flashing or flickering light.	http://purl.obolibrary.org/obo/HP_0001327		Photomyoclonic seizures|Photically induced myoclonic seizure|Photomyoclonic seizure
OBO:HP_0001328	Specific learning disability	biolink:OntologyClass	hp	UMLS:C4025790	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.	http://purl.obolibrary.org/obo/HP_0001328		
OBO:HP_0001331	Absent septum pellucidum	biolink:OntologyClass	hp	MSH:C535562|SNOMEDCT_US:253143001|UMLS:C0431371	Absence of the septum pellucidum.	http://purl.obolibrary.org/obo/HP_0001331		Absence of septum pellucidum|Absence of the septum pellucidum|Agenesis of the septum pellucidum|Missing septum pellucidum
OBO:HP_0001332	Dystonia	biolink:OntologyClass	hp	MSH:D004421|UMLS:C0013421|UMLS:C4020871	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.	http://purl.obolibrary.org/obo/HP_0001332		Dystonic movements|Dystonic disease
OBO:HP_0001334	Communicating hydrocephalus	biolink:OntologyClass	hp	MSH:D006849|SNOMEDCT_US:271569006|UMLS:C0009451	A form of hydrocephalus in which there is no visible obstruction to the flow of the cerebrospinal fluid between the ventricles and subarachnoid space.	http://purl.obolibrary.org/obo/HP_0001334		
OBO:HP_0001335	Bimanual synkinesia	biolink:OntologyClass	hp	SNOMEDCT_US:229247004|UMLS:C0454455	Involuntary movements of one hand that accompany and mirror intentional movements of the opposite hand.	http://purl.obolibrary.org/obo/HP_0001335		Hand mirror movements|Mirror hand movements|Mirror movements
OBO:HP_0001336	Myoclonus	biolink:OntologyClass	hp	MSH:D009207|SNOMEDCT_US:127324008|SNOMEDCT_US:17450006|UMLS:C0027066|UMLS:C1854302	Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.	http://purl.obolibrary.org/obo/HP_0001336		Jerking|Myoclonic jerks|Involuntary jerking movements
OBO:HP_0001337	Tremor	biolink:OntologyClass	hp	MSH:D014202|SNOMEDCT_US:26079004|UMLS:C0040822	An unintentional, oscillating to-and-fro muscle movement about a joint axis.	http://purl.obolibrary.org/obo/HP_0001337		Tremor|Tremors
OBO:HP_0001338	Partial agenesis of the corpus callosum	biolink:OntologyClass	hp	MSH:C536111|SNOMEDCT_US:253140003|UMLS:C0431368|UMLS:C1857278	A partial failure of the development of the corpus callosum.	http://purl.obolibrary.org/obo/HP_0001338		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
OBO:HP_0001339	Lissencephaly	biolink:OntologyClass	hp	MSH:D054082|SNOMEDCT_US:204036008|UMLS:C0266463|UMLS:C1879312	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.	http://purl.obolibrary.org/obo/HP_0001339		Fewer or absent grooves in brain
OBO:HP_0001340	Enhancement of the C-reflex	biolink:OntologyClass	hp	UMLS:C3552824	Increase in amplitude of a long-loop response upon somatosensory evoked potential testing, representing an electrically evoked myoclonic response.	http://purl.obolibrary.org/obo/HP_0001340		
OBO:HP_0001341	Olfactory lobe agenesis	biolink:OntologyClass	hp	UMLS:C1855331		http://purl.obolibrary.org/obo/HP_0001341		Olfactory lobe absence
OBO:HP_0001342	Cerebral hemorrhage	biolink:OntologyClass	hp	MSH:D002543|MSH:D020300|SNOMEDCT_US:230706003|SNOMEDCT_US:274100004|UMLS:C0553692|UMLS:C2937358	Hemorrhage into the parenchyma of the brain.	http://purl.obolibrary.org/obo/HP_0001342		Bleeding in brain|Cerebral haemorrhage|Intracerebral hemorrhage|Hemorrhagic stroke
OBO:HP_0001343	Kernicterus	biolink:OntologyClass	hp	MSH:D007647|SNOMEDCT_US:50143004|SNOMEDCT_US:74925009|UMLS:C0022610	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.	http://purl.obolibrary.org/obo/HP_0001343		
OBO:HP_0001344	Absent speech	biolink:OntologyClass	hp	UMLS:C0746940|UMLS:C1854882	Complete lack of development of speech and language abilities.	http://purl.obolibrary.org/obo/HP_0001344		Absent speech development|Lack of language development|Lack of speech|No speech development|No speech or language development|Nonverbal
OBO:HP_0001345	Psychotic mentation	biolink:OntologyClass	hp	UMLS:C4025789		http://purl.obolibrary.org/obo/HP_0001345		
OBO:HP_0001347	Hyperreflexia	biolink:OntologyClass	hp	MSH:D012021|SNOMEDCT_US:86854008|UMLS:C0151889	Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.	http://purl.obolibrary.org/obo/HP_0001347		Increased reflexes|Increased deep tendon reflexes
OBO:HP_0001348	Brisk reflexes	biolink:OntologyClass	hp	UMLS:C2673700	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.	http://purl.obolibrary.org/obo/HP_0001348		Brisk deep tendon reflexes
OBO:HP_0001349	Facial diplegia	biolink:OntologyClass	hp	UMLS:C1836003	Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy).	http://purl.obolibrary.org/obo/HP_0001349	hposlim_core	Bilateral facial weakness|Facial paresis, bilateral
OBO:HP_0001350	Slurred speech	biolink:OntologyClass	hp	SNOMEDCT_US:289195008|UMLS:C0234518	Abnormal coordination of muscles involved in speech.	http://purl.obolibrary.org/obo/HP_0001350		Slurred speech
OBO:HP_0001351	Jerk-locked premyoclonus spikes	biolink:OntologyClass	hp	UMLS:C3552825	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.	http://purl.obolibrary.org/obo/HP_0001351		
OBO:HP_0001355	Megalencephaly	biolink:OntologyClass	hp	MSH:D058627|SNOMEDCT_US:19410003|UMLS:C0221355	Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia).	http://purl.obolibrary.org/obo/HP_0001355		Enlarged brain|Macrencephaly
OBO:HP_0001357	Plagiocephaly	biolink:OntologyClass	hp	MSH:D049068|MSH:D059041|SNOMEDCT_US:21850008|SNOMEDCT_US:254024005|UMLS:C0265529|UMLS:C1450010|UMLS:C4072830|UMLS:C4280597|UMLS:C4280598|UMLS:C4280807	Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape.	http://purl.obolibrary.org/obo/HP_0001357	hposlim_core	Asymmetry of the posterior head|Asymmetry of the posterior skull|Rhomboid shaped head|Flat head syndrome|Flattening of skull|Rhomboid shaped skull|Flattening of head|Asymmetry of the posterior cranium|Flat head|Flattening of cranial vault|Flattening of cranium|Rhomboid shaped cranium|Deformational plagiocephaly|Positional plagiocephaly
OBO:HP_0001360	Holoprosencephaly	biolink:OntologyClass	hp	Fyler:4338|MSH:D016142|SNOMEDCT_US:30915001|UMLS:C0079541	Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles.	http://purl.obolibrary.org/obo/HP_0001360		Single brain ventricle
OBO:HP_0001361	Nystagmus-induced head nodding	biolink:OntologyClass	hp	UMLS:C4025788	Head movements associated with nystagmus, that may represent an attempt to compensate for the involuntary eye movements and to improve vision.	http://purl.obolibrary.org/obo/HP_0001361		
OBO:HP_0001362	Calvarial skull defect	biolink:OntologyClass	hp	UMLS:C4025787|UMLS:C4280595|UMLS:C4280596	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.	http://purl.obolibrary.org/obo/HP_0001362		Cranial defect|Skull defect|Calvarial defect
OBO:HP_0001363	Craniosynostosis	biolink:OntologyClass	hp	Fyler:4336|MSH:D003398|SNOMEDCT_US:57219006|UMLS:C0010278|UMLS:C0235942	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.	http://purl.obolibrary.org/obo/HP_0001363	hposlim_core	Deformity of the skull|Cranial suture synostosis|Craniosyostosis|Early fusion of cranial sutures|Premature closure of cranial sutures|Premature fontanel closure|Premature suture closure|Craniostenosis
OBO:HP_0001367	Abnormal joint morphology	biolink:OntologyClass	hp	MSH:D007592|SNOMEDCT_US:399269003|UMLS:C0022408|UMLS:C0240083	An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join.	http://purl.obolibrary.org/obo/HP_0001367		Abnormal shape of joints|Abnormality of the joints|Anomaly of the joints|Joint disease
OBO:HP_0001369	Arthritis	biolink:OntologyClass	hp	MSH:D001168|SNOMEDCT_US:3723001|UMLS:C0003864	Inflammation of a joint.	http://purl.obolibrary.org/obo/HP_0001369		Arthritis|Joint inflammation
OBO:HP_0001370	Rheumatoid arthritis	biolink:OntologyClass	hp	MSH:D001172|SNOMEDCT_US:69896004|UMLS:C0003873	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.	http://purl.obolibrary.org/obo/HP_0001370		RA|Rheumatoid arthritis
OBO:HP_0001371	Flexion contracture	biolink:OntologyClass	hp	MSH:D003286|SNOMEDCT_US:203598005|SNOMEDCT_US:385522000|SNOMEDCT_US:55033002|SNOMEDCT_US:57048009|SNOMEDCT_US:7890003|SNOMEDCT_US:88565003|UMLS:C0009917|UMLS:C0009918|UMLS:C0333068|UMLS:C1850530	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.	http://purl.obolibrary.org/obo/HP_0001371		Flexed joint that cannot be straightened|Contracture|Flexion contractures|Flexion contractures of joints|Joint contracture|Joint contractures|Contractures
OBO:HP_0001373	Joint dislocation	biolink:OntologyClass	hp	MSH:D004204|SNOMEDCT_US:108367008|SNOMEDCT_US:87642003|UMLS:C0012691	Displacement or malalignment of joints.	http://purl.obolibrary.org/obo/HP_0001373		Joint dislocation|Joint dislocations|Recurrent joint dislocations
OBO:HP_0001374	Congenital hip dislocation	biolink:OntologyClass	hp	MSH:D006618|SNOMEDCT_US:48334007|SNOMEDCT_US:52781008|UMLS:C0019555		http://purl.obolibrary.org/obo/HP_0001374		Dislocated hip since birth|Congenital dislocation of the hip|Congenital dislocation of the hips|Congenital hip anomaly|Congenital hip dislocations
OBO:HP_0001376	Limitation of joint mobility	biolink:OntologyClass	hp	UMLS:C1857108	A reduction in the freedom of movement of one or more joints.	http://purl.obolibrary.org/obo/HP_0001376		Decreased joint mobility|Decreased mobility of joints|Limitation of joint mobility|Limited joint mobility|Limited joint motion
OBO:HP_0001377	Limited elbow extension	biolink:OntologyClass	hp	UMLS:C1867103	Limited ability to straighten the arm at the elbow joint.	http://purl.obolibrary.org/obo/HP_0001377	hposlim_core	Decreased elbow extension|Elbow limited extension|Limitation of elbow extension|Limited elbow extension|Limited extension at elbows|Limited forearm extension|Restricted elbow extension
OBO:HP_0001379	obsolete Degenerative joint disease	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0001379		
OBO:HP_0001380	obsolete Ligamentous laxity	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0001380		
OBO:HP_0001382	Joint hypermobility	biolink:OntologyClass	hp	SNOMEDCT_US:298181000|UMLS:C1844820	The ability of a joint to move beyond its normal range of motion.	http://purl.obolibrary.org/obo/HP_0001382		Double-Jointed|Flexible joints|Increased mobility of joints|Extensible joints|Hyperextensible joints|Increased joint mobility|Joint hyperextensibility
OBO:HP_0001384	Abnormality of the hip joint	biolink:OntologyClass	hp	UMLS:C4020870	An abnormality of the hip joint.	http://purl.obolibrary.org/obo/HP_0001384		Abnormality of the hip joint|Abnormality of the hip joints
OBO:HP_0001385	Hip dysplasia	biolink:OntologyClass	hp	MSH:D006618|SNOMEDCT_US:48334007|SNOMEDCT_US:52781008|UMLS:C0019555	The presence of developmental dysplasia of the hip.	http://purl.obolibrary.org/obo/HP_0001385		Abnormal formation of the hip|Congenital hip dysplasia
OBO:HP_0001386	Joint swelling	biolink:OntologyClass	hp	SNOMEDCT_US:271771009|UMLS:C0152031		http://purl.obolibrary.org/obo/HP_0001386		Joint swelling
OBO:HP_0001387	Joint stiffness	biolink:OntologyClass	hp	SNOMEDCT_US:84445001|UMLS:C0162298	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.	http://purl.obolibrary.org/obo/HP_0001387		Joint stiffness|Stiff joint|Stiff joints
OBO:HP_0001388	Joint laxity	biolink:OntologyClass	hp	MSH:D007593|SNOMEDCT_US:27911000|SNOMEDCT_US:298203008|UMLS:C0086437|UMLS:C0158359	Lack of stability of a joint.	http://purl.obolibrary.org/obo/HP_0001388		Joint instability|Lax joints|Loose-jointedness|Loosejointedness|Hyperlaxity|Joint ligamentous laxity|Ligamentous laxity
OBO:HP_0001392	Abnormality of the liver	biolink:OntologyClass	hp	MSH:D008107|SNOMEDCT_US:235856003|UMLS:C0023895|UMLS:C4021780	An abnormality of the liver.	http://purl.obolibrary.org/obo/HP_0001392		Abnormal liver|Abnormality of the liver|Liver abnormality|Liver disease
OBO:HP_0001394	Cirrhosis	biolink:OntologyClass	hp	MSH:D008103|SNOMEDCT_US:19943007|UMLS:C0023890	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.	http://purl.obolibrary.org/obo/HP_0001394		Scar tissue replaces healthy tissue in the liver|Hepatic cirrhosis|Liver cirrhosis
OBO:HP_0001395	Hepatic fibrosis	biolink:OntologyClass	hp	MSH:D008103|SNOMEDCT_US:62484002|UMLS:C0239946	The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.	http://purl.obolibrary.org/obo/HP_0001395		Liver fibrosis
OBO:HP_0001396	Cholestasis	biolink:OntologyClass	hp	MSH:D002779|SNOMEDCT_US:197446008|SNOMEDCT_US:30144000|SNOMEDCT_US:33688009|UMLS:C0008370	Impairment of bile flow due to obstruction in bile ducts.	http://purl.obolibrary.org/obo/HP_0001396		Slowed or blocked flow of bile from liver
OBO:HP_0001397	Hepatic steatosis	biolink:OntologyClass	hp	MSH:D005234|SNOMEDCT_US:197321007|SNOMEDCT_US:442191002|UMLS:C2711227	Steatosis is a term used to denote lipid accumulation within hepatocytes.	http://purl.obolibrary.org/obo/HP_0001397		Fatty infiltration of liver|Fatty liver|Liver steatosis|Steatosis
OBO:HP_0001399	Hepatic failure	biolink:OntologyClass	hp	MSH:D017093|SNOMEDCT_US:59927004|UMLS:C0085605		http://purl.obolibrary.org/obo/HP_0001399		Liver failure
OBO:HP_0001400	obsolete Hepatic abscesses due to immunodeficiency	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0001400		
OBO:HP_0001401	Intrahepatic biliary dysgenesis	biolink:OntologyClass	hp	UMLS:C1859235		http://purl.obolibrary.org/obo/HP_0001401		
OBO:HP_0001402	Hepatocellular carcinoma	biolink:OntologyClass	hp	MSH:D006528|NCIT:C3099|SNOMEDCT_US:109841003|SNOMEDCT_US:187769009|SNOMEDCT_US:25370001|UMLS:C1862761|UMLS:C1867955|UMLS:C2239176	A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver.	http://purl.obolibrary.org/obo/HP_0001402		Increased hepatocellular carcinoma risk|Increased incidence of hepatocellular carcinoma
OBO:HP_0001403	Macrovesicular hepatic steatosis	biolink:OntologyClass	hp	UMLS:C1837256	A form of hepatic steatosis characterized by the presence of large, lipid-laden vesicles in the affected hepatocytes.	http://purl.obolibrary.org/obo/HP_0001403		Macrovesicular steatosis
OBO:HP_0001404	Hepatocellular necrosis	biolink:OntologyClass	hp	UMLS:C1855038		http://purl.obolibrary.org/obo/HP_0001404		Death of liver cells|Hepatocellular loss
OBO:HP_0001405	Periportal fibrosis	biolink:OntologyClass	hp	UMLS:C1849766	The presence of fibrosis affecting the interlobular stroma of liver.	http://purl.obolibrary.org/obo/HP_0001405		
OBO:HP_0001406	Intrahepatic cholestasis	biolink:OntologyClass	hp	MSH:D002780|SNOMEDCT_US:4637005|UMLS:C0008372	Impairment of bile flow due to obstruction in the small bile ducts within the liver.	http://purl.obolibrary.org/obo/HP_0001406		Impaired release of bile from liver
OBO:HP_0001407	Hepatic cysts	biolink:OntologyClass	hp	SNOMEDCT_US:85057007|UMLS:C0267834		http://purl.obolibrary.org/obo/HP_0001407		Liver cysts
OBO:HP_0001408	Bile duct proliferation	biolink:OntologyClass	hp	SNOMEDCT_US:20239009|UMLS:C0267818	Proliferative changes of the bile ducts.	http://purl.obolibrary.org/obo/HP_0001408		Proliferation of bile canaliculi
OBO:HP_0001409	Portal hypertension	biolink:OntologyClass	hp	MSH:D006975|SNOMEDCT_US:34742003|UMLS:C0020541	Increased pressure in the portal vein.	http://purl.obolibrary.org/obo/HP_0001409		
OBO:HP_0001410	Decreased liver function	biolink:OntologyClass	hp	MSH:D008107|SNOMEDCT_US:75183008|SNOMEDCT_US:77981007|UMLS:C0086565|UMLS:C0232744|UMLS:C3279149	Reduced ability of the liver to perform its functions.	http://purl.obolibrary.org/obo/HP_0001410		Decreased liver function|Liver dysfunction|Liver dysfunction, mild|Hepatopathy
OBO:HP_0001412	Enteroviral hepatitis	biolink:OntologyClass	hp	UMLS:C1843995	Inflammation of the liver due to infection with enterovirus.	http://purl.obolibrary.org/obo/HP_0001412		
OBO:HP_0001413	Micronodular cirrhosis	biolink:OntologyClass	hp	SNOMEDCT_US:21861000|UMLS:C0267812	A type of cirrhosis characterized by the presence of small regenerative nodules.	http://purl.obolibrary.org/obo/HP_0001413		
OBO:HP_0001414	Microvesicular hepatic steatosis	biolink:OntologyClass	hp	UMLS:C1850415	A form of hepatic steatosis characterized by the presence of small, lipid-laden vesicles in the affected hepatocytes.	http://purl.obolibrary.org/obo/HP_0001414		Microvesicular steatosis
OBO:HP_0001417	X-linked inheritance	biolink:OntologyClass	hp	MSH:D050172|SNOMEDCT_US:263934009|UMLS:C0241764	A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome.	http://purl.obolibrary.org/obo/HP_0001417		X-linked|X-linked form
OBO:HP_0001419	X-linked recessive inheritance	biolink:OntologyClass	hp	UMLS:C1845977	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.	http://purl.obolibrary.org/obo/HP_0001419		X-linked recessive
OBO:HP_0001421	Abnormality of the musculature of the hand	biolink:OntologyClass	hp	UMLS:C4025786		http://purl.obolibrary.org/obo/HP_0001421		Abnormal hand muscles
OBO:HP_0001423	X-linked dominant inheritance	biolink:OntologyClass	hp	UMLS:C1847879	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.	http://purl.obolibrary.org/obo/HP_0001423		X-linked dominant
OBO:HP_0001425	Heterogeneous	biolink:OntologyClass	hp	MSH:D018740|UMLS:C0242960		http://purl.obolibrary.org/obo/HP_0001425		Genetic heterogeneity|Heterogeneity
OBO:HP_0001426	Multifactorial inheritance	biolink:OntologyClass	hp	MSH:D020412|UMLS:C0600599	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.	http://purl.obolibrary.org/obo/HP_0001426		Familial predisposition
OBO:HP_0001427	Mitochondrial inheritance	biolink:OntologyClass	hp	MSH:D050259|UMLS:C0887941	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).	http://purl.obolibrary.org/obo/HP_0001427		Mitochondrial
OBO:HP_0001428	Somatic mutation	biolink:OntologyClass	hp	SNOMEDCT_US:124975008|UMLS:C0544886	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.	http://purl.obolibrary.org/obo/HP_0001428		
OBO:HP_0001430	Abnormality of the calf musculature	biolink:OntologyClass	hp	UMLS:C4021779		http://purl.obolibrary.org/obo/HP_0001430		Abnormal calf muscles|Abnormality of calf musculature
OBO:HP_0001433	Hepatosplenomegaly	biolink:OntologyClass	hp	SNOMEDCT_US:36760000|UMLS:C0019214	Simultaneous enlargement of the liver and spleen.	http://purl.obolibrary.org/obo/HP_0001433		Enlarged liver and spleen
OBO:HP_0001435	Abnormality of the shoulder girdle musculature	biolink:OntologyClass	hp	UMLS:C4021778		http://purl.obolibrary.org/obo/HP_0001435		Abnormality of shoulder musculature
OBO:HP_0001436	Abnormality of the foot musculature	biolink:OntologyClass	hp	UMLS:C4025785	An anomaly of the musculature of foot.	http://purl.obolibrary.org/obo/HP_0001436		Abnormal foot muscles
OBO:HP_0001437	Abnormality of the musculature of the lower limbs	biolink:OntologyClass	hp	UMLS:C4025784		http://purl.obolibrary.org/obo/HP_0001437		
OBO:HP_0001438	Abnormal abdomen morphology	biolink:OntologyClass	hp	UMLS:C4020869	A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax.	http://purl.obolibrary.org/obo/HP_0001438		Abnormality of abdomen structure|Abdomen abnormality|Abnormality of abdomen morphology|Abnormality of the abdomen
OBO:HP_0001440	Metatarsal synostosis	biolink:OntologyClass	hp	UMLS:C1862697		http://purl.obolibrary.org/obo/HP_0001440		Fusion of the long bones of the feet|Fusion of metatarsals|Synostosis involving metatarsal bones
OBO:HP_0001441	Abnormality of the musculature of the thigh	biolink:OntologyClass	hp	UMLS:C4025783		http://purl.obolibrary.org/obo/HP_0001441		Abnormal thigh muscles
OBO:HP_0001442	Somatic mosaicism	biolink:OntologyClass	hp	UMLS:C1866227	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.	http://purl.obolibrary.org/obo/HP_0001442		
OBO:HP_0001443	Abnormality of the gluteal musculature	biolink:OntologyClass	hp	UMLS:C4025782		http://purl.obolibrary.org/obo/HP_0001443		Abnormality of glutes
OBO:HP_0001444	Autosomal dominant somatic cell mutation	biolink:OntologyClass	hp	UMLS:C4025781	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.	http://purl.obolibrary.org/obo/HP_0001444		
OBO:HP_0001445	Abnormality of the hip-girdle musculature	biolink:OntologyClass	hp	UMLS:C4025780		http://purl.obolibrary.org/obo/HP_0001445		
OBO:HP_0001446	Abnormality of the musculature of the upper limbs	biolink:OntologyClass	hp	UMLS:C4025779		http://purl.obolibrary.org/obo/HP_0001446		Abnormal upper limb muscles
OBO:HP_0001449	Duplication of metatarsal bones	biolink:OntologyClass	hp	UMLS:C4025778		http://purl.obolibrary.org/obo/HP_0001449		Duplication of long bones of foot
OBO:HP_0001450	Y-linked inheritance	biolink:OntologyClass	hp	MSH:D050173|UMLS:C0814045	A mode of inheritance that is observed for traits related to a gene encoded on the Y chromosome.	http://purl.obolibrary.org/obo/HP_0001450		
OBO:HP_0001452	Autosomal dominant contiguous gene syndrome	biolink:OntologyClass	hp	UMLS:C4025777		http://purl.obolibrary.org/obo/HP_0001452		
OBO:HP_0001454	Abnormality of the upper arm	biolink:OntologyClass	hp	UMLS:C4025776		http://purl.obolibrary.org/obo/HP_0001454		
OBO:HP_0001457	Abnormality of the musculature of the upper arm	biolink:OntologyClass	hp	UMLS:C4025775		http://purl.obolibrary.org/obo/HP_0001457		
OBO:HP_0001459	1-3 toe syndactyly	biolink:OntologyClass	hp	UMLS:C4025774	Syndactyly with fusion of toes one to three.	http://purl.obolibrary.org/obo/HP_0001459		Webbed 1st-3rd toes
OBO:HP_0001460	Aplasia/Hypoplasia involving the skeletal musculature	biolink:OntologyClass	hp	UMLS:C4025773	Absence or underdevelopment of the musculature.	http://purl.obolibrary.org/obo/HP_0001460		Absent/small skeletal muscles|Absent/underdeveloped skeletal muscles
OBO:HP_0001464	Aplasia/Hypoplasia involving the shoulder musculature	biolink:OntologyClass	hp	UMLS:C4025772	Absence or underdevelopment of the muscles of the shoulder.	http://purl.obolibrary.org/obo/HP_0001464		Absent/small shoulder muscles|Absent/underdeveloped shoulder muscles
OBO:HP_0001465	Amyotrophy involving the shoulder musculature	biolink:OntologyClass	hp	UMLS:C4025771		http://purl.obolibrary.org/obo/HP_0001465		Wasting of shoulder muscles|Shoulder muscle degeneration
OBO:HP_0001466	Contiguous gene syndrome	biolink:OntologyClass	hp	UMLS:C1855496		http://purl.obolibrary.org/obo/HP_0001466		
OBO:HP_0001467	Aplasia/Hypoplasia involving the musculature of the upper limbs	biolink:OntologyClass	hp	UMLS:C4025770	Absence or underdevelopment of the musculature of the upper limbs.	http://purl.obolibrary.org/obo/HP_0001467		Absent/small upper limb muscles|Absent/underdeveloped upper limb muscles
OBO:HP_0001468	Aplasia/Hypoplasia involving the musculature of the upper arm	biolink:OntologyClass	hp	UMLS:C4025769	Absence or underdevelopment of the muscles of the upper arm.	http://purl.obolibrary.org/obo/HP_0001468		Absent/small upper arm muscles|Absent/underdeveloped upper arm muscles
OBO:HP_0001469	Abnormal morphology of the pelvis musculature	biolink:OntologyClass	hp	UMLS:C4025768		http://purl.obolibrary.org/obo/HP_0001469		Abnormality of the musculature of the pelvis
OBO:HP_0001470	Sex-limited autosomal dominant	biolink:OntologyClass	hp	UMLS:C4025767		http://purl.obolibrary.org/obo/HP_0001470		
OBO:HP_0001471	Aplasia/Hypoplasia of the musculature of the pelvis	biolink:OntologyClass	hp	UMLS:C4025766		http://purl.obolibrary.org/obo/HP_0001471		Absent/small pelvis muscles|Absent/underdeveloped pelvis muscles
OBO:HP_0001472	obsolete Familial predisposition	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0001472		
OBO:HP_0001473	Metatarsal osteolysis	biolink:OntologyClass	hp	UMLS:C1854614	Osteolysis involving metatarsal bones.	http://purl.obolibrary.org/obo/HP_0001473		Osteolysis involving metatarsal bones
OBO:HP_0001474	Sclerotic scapulae	biolink:OntologyClass	hp	UMLS:C1849263	Increased density of the bony tissue of the scapula.	http://purl.obolibrary.org/obo/HP_0001474	hposlim_core	
OBO:HP_0001475	Male-limited autosomal dominant	biolink:OntologyClass	hp	UMLS:C4025764		http://purl.obolibrary.org/obo/HP_0001475		
OBO:HP_0001476	Delayed closure of the anterior fontanelle	biolink:OntologyClass	hp	SNOMEDCT_US:295091000119100|UMLS:C3840083|UMLS:C4072831	A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life.	http://purl.obolibrary.org/obo/HP_0001476		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
OBO:HP_0001477	Compensatory chin elevation	biolink:OntologyClass	hp	UMLS:C1846911	A tendency to hold the chin elevated by about 20 to 30 degrees to compensate for a limitation of eye movement.	http://purl.obolibrary.org/obo/HP_0001477		Compensatory head tilt/chin elevation
OBO:HP_0001480	Freckling	biolink:OntologyClass	hp	MSH:D008548|SNOMEDCT_US:403536009|SNOMEDCT_US:699225003|UMLS:C0016689	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.	http://purl.obolibrary.org/obo/HP_0001480		Freckling
OBO:HP_0001482	Subcutaneous nodule	biolink:OntologyClass	hp	SNOMEDCT_US:95325000|UMLS:C0151811|UMLS:C0746926	Slightly elevated lesions on or in the skin with a diameter of over 5 mm.	http://purl.obolibrary.org/obo/HP_0001482	hposlim_core	Nodule below the skin|Firm lump under the skin|Growth of abnormal tissue under the skin|Subcutaneous nodules|Multiple, subcutaneous nodules
OBO:HP_0001483	Eye poking	biolink:OntologyClass	hp	SNOMEDCT_US:78894008|UMLS:C0233593	Repetitive pressing, poking, and/or rubbing in the eyes.	http://purl.obolibrary.org/obo/HP_0001483		
OBO:HP_0001487	obsolete Hypopigmented fundi	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0001487		
OBO:HP_0001488	Bilateral ptosis	biolink:OntologyClass	hp	UMLS:C1865916		http://purl.obolibrary.org/obo/HP_0001488		Drooping of both upper eyelids
OBO:HP_0001489	Posterior vitreous detachment	biolink:OntologyClass	hp	MSH:D020255|SNOMEDCT_US:247081001|UMLS:C0423361	Separation of the vitreous humor from the retina.	http://purl.obolibrary.org/obo/HP_0001489		Vitreous detachment
OBO:HP_0001491	Congenital fibrosis of extraocular muscles	biolink:OntologyClass	hp	MSH:C580012|SNOMEDCT_US:400946004|UMLS:C1302995	Congenital non-progressive ophthalmoplegia with multiple extraocular muscle restrictions. Typically, there is ptosis and variable degrees of restriction of horizontal and vertical eye movements.	http://purl.obolibrary.org/obo/HP_0001491	hposlim_core	CFEOM|Congenital fibrosis of the extraocular muscles|Congenital ophthalmoplegia
OBO:HP_0001492	Axenfeld anomaly	biolink:OntologyClass	hp	MSH:C535679|SNOMEDCT_US:204152008|UMLS:C0266548	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.	http://purl.obolibrary.org/obo/HP_0001492	hposlim_core	
OBO:HP_0001493	Falciform retinal fold	biolink:OntologyClass	hp	SNOMEDCT_US:204181009|UMLS:C0344550	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.	http://purl.obolibrary.org/obo/HP_0001493		Congenital retinal fold
OBO:HP_0001495	Carpal osteolysis	biolink:OntologyClass	hp	UMLS:C1833734	Osteolysis affecting carpal bones.	http://purl.obolibrary.org/obo/HP_0001495	hposlim_core	Carpal bone osteolysis
OBO:HP_0001498	Carpal bone hypoplasia	biolink:OntologyClass	hp	UMLS:C1863749|UMLS:C4280594	Underdevelopment of one or more carpal bones.	http://purl.obolibrary.org/obo/HP_0001498	hposlim_core	Small wrist bones|Small carpal bones|Small carpals|Hypoplasia of carpal bones|Hypoplastic carpal bones
OBO:HP_0001500	Broad finger	biolink:OntologyClass	hp	UMLS:C1844906	Increased width of a non-thumb digit of the hand.	http://purl.obolibrary.org/obo/HP_0001500	hposlim_core	Broad finger|Broad fingers|Wide fingers
OBO:HP_0001501	6 metacarpals	biolink:OntologyClass	hp	UMLS:C1861360		http://purl.obolibrary.org/obo/HP_0001501		6 long bones of hand
OBO:HP_0001504	Metacarpal osteolysis	biolink:OntologyClass	hp	UMLS:C1854610		http://purl.obolibrary.org/obo/HP_0001504		Metacarpals osteolysis
OBO:HP_0001507	Growth abnormality	biolink:OntologyClass	hp	UMLS:C0262361		http://purl.obolibrary.org/obo/HP_0001507		Abnormal growth|Growth abnormality|Growth issue
OBO:HP_0001508	Failure to thrive	biolink:OntologyClass	hp	SNOMEDCT_US:36440009|SNOMEDCT_US:432788009|UMLS:C0231246|UMLS:C2315100	Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.	http://purl.obolibrary.org/obo/HP_0001508		Undergrowth|Faltering weight|Weight faltering|Poor weight gain|Postnatal failure to thrive
OBO:HP_0001510	Growth delay	biolink:OntologyClass	hp	SNOMEDCT_US:276617005|SNOMEDCT_US:444896005|SNOMEDCT_US:59576002|UMLS:C0151686|UMLS:C0456070|UMLS:C0878787|UMLS:C1837385|UMLS:C3552463	A deficiency or slowing down of growth pre- and postnatally.	http://purl.obolibrary.org/obo/HP_0001510		Delayed growth|Growth deficiency|Growth delay|Growth failure|Growth retardation|Poor growth|Retarded growth|Very poor growth
OBO:HP_0001511	Intrauterine growth retardation	biolink:OntologyClass	hp	MSH:D005317|MSH:D007236|SNOMEDCT_US:199612005|SNOMEDCT_US:22033007|UMLS:C0015934|UMLS:C0021296|UMLS:C1386048	An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.	http://purl.obolibrary.org/obo/HP_0001511		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
OBO:HP_0001513	Obesity	biolink:OntologyClass	hp	MSH:D009765|SNOMEDCT_US:414915002|SNOMEDCT_US:414916001|UMLS:C0028754	Accumulation of substantial excess body fat.	http://purl.obolibrary.org/obo/HP_0001513		Having too much body fat|Obesity
OBO:HP_0001518	Small for gestational age	biolink:OntologyClass	hp	MSH:D007230|SNOMEDCT_US:267258002|SNOMEDCT_US:276610007|UMLS:C0024032|UMLS:C0235991	Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.	http://purl.obolibrary.org/obo/HP_0001518		Birth weight less than 10th percentile|Low birth weight|Small for gestational age
OBO:HP_0001519	Disproportionate tall stature	biolink:OntologyClass	hp	MSH:D054119|SNOMEDCT_US:62250003|UMLS:C0003706|UMLS:C1836996	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.	http://purl.obolibrary.org/obo/HP_0001519		Dolichostenomelia|Marfanoid body habitus|Marfanoid habitus|Reduced upper-lower segment ratio
OBO:HP_0001520	Large for gestational age	biolink:OntologyClass	hp	UMLS:C1848395	The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age.	http://purl.obolibrary.org/obo/HP_0001520		Birth weight > 90th percentile|Birthweight > 90th percentile|Fetal macrosomia|Macrosomia|Macrosomia, neonatal
OBO:HP_0001522	Death in infancy	biolink:OntologyClass	hp	UMLS:C1844947|UMLS:C1858430	Death within the first 24 months of life.	http://purl.obolibrary.org/obo/HP_0001522		Death in infancy|Infantile death|Lethal in infancy|Death in early childhood
OBO:HP_0001525	Severe failure to thrive	biolink:OntologyClass	hp	UMLS:C1855514		http://purl.obolibrary.org/obo/HP_0001525		Severe faltering weight|Severe weight faltering|Marked failure to thrive|Severe postnatal failure to thrive
OBO:HP_0001528	Hemihypertrophy	biolink:OntologyClass	hp	SNOMEDCT_US:205838004|SNOMEDCT_US:56007004|UMLS:C0332890	Overgrowth of only one side of the body.	http://purl.obolibrary.org/obo/HP_0001528		Asymmetric overgrowth|Asymmetric limb hypertrophy
OBO:HP_0001530	Mild postnatal growth retardation	biolink:OntologyClass	hp	UMLS:C1835580|UMLS:C3550204	A mild degree of slow or limited growth after birth, being between two and three standard deviations below age- and sex-related norms.	http://purl.obolibrary.org/obo/HP_0001530		Mild growth deficiency|Postnatal onset of mild growth retardation
OBO:HP_0001531	Failure to thrive in infancy	biolink:OntologyClass	hp	UMLS:C1867873		http://purl.obolibrary.org/obo/HP_0001531		Faltering weight in infancy|Weight faltering in infancy|Failure to thrive in first year of life
OBO:HP_0001533	Slender build	biolink:OntologyClass	hp	UMLS:C1850573	Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones.	http://purl.obolibrary.org/obo/HP_0001533		Slender build|Thin build|Asthenic habitus|Thin body habitus
OBO:HP_0001537	Umbilical hernia	biolink:OntologyClass	hp	Fyler:4445|SNOMEDCT_US:396347007|UMLS:C0019322	Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.	http://purl.obolibrary.org/obo/HP_0001537	hposlim_core	Umbilical hernias
OBO:HP_0001538	Protuberant abdomen	biolink:OntologyClass	hp	UMLS:C1854928	A thrusting or bulging out of the abdomen.	http://purl.obolibrary.org/obo/HP_0001538		Belly sticks out|Extended belly|Abdominal protuberance
OBO:HP_0001539	Omphalocele	biolink:OntologyClass	hp	Fyler:4404|MEDDRA:10030309|MSH:D006554|SNOMEDCT_US:18735004|UMLS:C0795690	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.	http://purl.obolibrary.org/obo/HP_0001539	hposlim_core	Omphalocoele
OBO:HP_0001540	Diastasis recti	biolink:OntologyClass	hp	SNOMEDCT_US:62629000|UMLS:C0221766	A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba).	http://purl.obolibrary.org/obo/HP_0001540	hposlim_core	Gap between large left and right abdominal muscles
OBO:HP_0001541	Ascites	biolink:OntologyClass	hp	MSH:D001201|SNOMEDCT_US:389026000|UMLS:C0003962	Accumulation of fluid in the peritoneal cavity.	http://purl.obolibrary.org/obo/HP_0001541	hposlim_core	Accumulation of fluid in the abdomen
OBO:HP_0001543	Gastroschisis	biolink:OntologyClass	hp	MEDDRA:10018046|MSH:D020139|SNOMEDCT_US:72951007|UMLS:C0265706	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.	http://purl.obolibrary.org/obo/HP_0001543	hposlim_core	
OBO:HP_0001544	Prominent umbilicus	biolink:OntologyClass	hp	UMLS:C1837795	Abnormally prominent umbilicus (belly button).	http://purl.obolibrary.org/obo/HP_0001544		Prominent belly button|Prominent navel
OBO:HP_0001545	Anteriorly placed anus	biolink:OntologyClass	hp	UMLS:C1838705	Anterior malposition of the anus.	http://purl.obolibrary.org/obo/HP_0001545	hposlim_core	Anteriorly displaced anus|Anus anteposition
OBO:HP_0001547	Abnormal rib cage morphology	biolink:OntologyClass	hp	UMLS:C4025763	A morphological anomaly of the rib cage.	http://purl.obolibrary.org/obo/HP_0001547		Abnormality of the rib cage
OBO:HP_0001548	Overgrowth	biolink:OntologyClass	hp	UMLS:C1849265|UMLS:C1851731|UMLS:C3150281	Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.	http://purl.obolibrary.org/obo/HP_0001548		General overgrowth|Generalized overgrowth
OBO:HP_0001549	Abnormal ileum morphology	biolink:OntologyClass	hp	UMLS:C4025762		http://purl.obolibrary.org/obo/HP_0001549		Abnormality of the ileum
OBO:HP_0001551	Abnormal umbilicus morphology	biolink:OntologyClass	hp	UMLS:C1849338	An abnormality of the structure or appearance of the umbilicus.	http://purl.obolibrary.org/obo/HP_0001551		Abnormal belly button|Abnormal navel|Abnormal umbilicus
OBO:HP_0001552	Barrel-shaped chest	biolink:OntologyClass	hp	SNOMEDCT_US:24228002|UMLS:C0264172	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.	http://purl.obolibrary.org/obo/HP_0001552	hposlim_core	Barrel chest|Barrel-shaped chest
OBO:HP_0001555	Asymmetry of the thorax	biolink:OntologyClass	hp	UMLS:C1858033	Lack of symmetry between the left and right halves of the thorax.	http://purl.obolibrary.org/obo/HP_0001555	hposlim_core	Asymmetric chest
OBO:HP_0001557	Prenatal movement abnormality	biolink:OntologyClass	hp	UMLS:C1849510	An abnormality of fetal movement.	http://purl.obolibrary.org/obo/HP_0001557		Abnormal intrauterine movements
OBO:HP_0001558	Decreased fetal movement	biolink:OntologyClass	hp	SNOMEDCT_US:276369006|UMLS:C0235659	An abnormal reduction in quantity or strength of fetal movements.	http://purl.obolibrary.org/obo/HP_0001558		Less than 10 fetal movements in 12 hours|Decreased foetal movement|Decreased fetal activity|Decreased fetal movements|Decreased movement in utero|Fetal hypokinesia|Reduced fetal movement|Reduced fetal movements
OBO:HP_0001560	Abnormality of the amniotic fluid	biolink:OntologyClass	hp	SNOMEDCT_US:42170009|UMLS:C0266781	Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus.	http://purl.obolibrary.org/obo/HP_0001560		Abnormal amniotic fluid
OBO:HP_0001561	Polyhydramnios	biolink:OntologyClass	hp	MSH:D006831|SNOMEDCT_US:86203003|UMLS:C0020224	The presence of excess amniotic fluid in the uterus during pregnancy.	http://purl.obolibrary.org/obo/HP_0001561		High levels of amniotic fluid|Hydramnios
OBO:HP_0001562	Oligohydramnios	biolink:OntologyClass	hp	MSH:D016104|SNOMEDCT_US:59566000|UMLS:C0079924|UMLS:C3550658	Diminished amniotic fluid volume in pregnancy.	http://purl.obolibrary.org/obo/HP_0001562		Low levels of amniotic fluid|Maternal oligohydramnios
OBO:HP_0001563	Fetal polyuria	biolink:OntologyClass	hp	UMLS:C1865279	Abnormally increased production of urine by the fetus resulting in polyhydramnios.	http://purl.obolibrary.org/obo/HP_0001563		Foetal polyuria
OBO:HP_0001566	Widely-spaced maxillary central incisors	biolink:OntologyClass	hp	UMLS:C1835762|UMLS:C1845110|UMLS:C4280252	Increased distance between the maxillary central permanent incisor tooth.	http://purl.obolibrary.org/obo/HP_0001566		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
OBO:HP_0001571	Multiple impacted teeth	biolink:OntologyClass	hp	UMLS:C1839965|UMLS:C4280593	The presence of multiple impacted teeth.	http://purl.obolibrary.org/obo/HP_0001571		Multiple buried teeth|Impacted teeth|Multiple impacted teeth|Multiple retained teeth
OBO:HP_0001572	Macrodontia	biolink:OntologyClass	hp	SNOMEDCT_US:71485000|UMLS:C0266036|UMLS:C4280590|UMLS:C4280591|UMLS:C4280592	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.	http://purl.obolibrary.org/obo/HP_0001572	hposlim_core	Increased size of tooth|Large tooth|Increased width of tooth|Tooth mass excess|Hyperplasia of tooth|Hypertrophy of tooth|Large teeth
OBO:HP_0001574	Abnormality of the integument	biolink:OntologyClass	hp	UMLS:C4025761	An abnormality of the integument, which consists of the skin and the superficial fascia.	http://purl.obolibrary.org/obo/HP_0001574		
OBO:HP_0001575	Mood changes	biolink:OntologyClass	hp	SNOMEDCT_US:18963009|UMLS:C0085633		http://purl.obolibrary.org/obo/HP_0001575		Moody|Mood alterations
OBO:HP_0001579	Primary hypercortisolism	biolink:OntologyClass	hp	UMLS:C1968852|UMLS:C4025760	Hypercortisolemia associated with a primary defect of the adrenal gland leading to overproduction of cortisol.	http://purl.obolibrary.org/obo/HP_0001579		ACTH-independent hypercortisolemia
OBO:HP_0001580	Pigmented micronodular adrenocortical disease	biolink:OntologyClass	hp	UMLS:C1968851		http://purl.obolibrary.org/obo/HP_0001580		
OBO:HP_0001581	Recurrent skin infections	biolink:OntologyClass	hp	UMLS:C1853193	Infections of the skin that happen multiple times.	http://purl.obolibrary.org/obo/HP_0001581		Recurrent skin infections|Skin infections, recurrent|Cutaneous infections
OBO:HP_0001582	Redundant skin	biolink:OntologyClass	hp	SNOMEDCT_US:201093004|UMLS:C0581342	Loose and sagging skin often associated with loss of skin elasticity.	http://purl.obolibrary.org/obo/HP_0001582		Loose redundant skin|Redundant skin folds|Sagging, redundant skin
OBO:HP_0001583	Rotary nystagmus	biolink:OntologyClass	hp	MSH:D009759|SNOMEDCT_US:44526006|SNOMEDCT_US:95783006|UMLS:C0240595	A form of nystagmus in which the eyeball makes rotary motions around the axis.	http://purl.obolibrary.org/obo/HP_0001583	hposlim_core	Rotatory Nystagmus
OBO:HP_0001586	Vesicovaginal fistula	biolink:OntologyClass	hp	MSH:D014719|SNOMEDCT_US:89405008|UMLS:C0042582	The presence of a fistula connecting the urinary bladder to the vagina.	http://purl.obolibrary.org/obo/HP_0001586		
OBO:HP_0001587	obsolete Primary ovarian failure	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0001587		
OBO:HP_0001591	Bell-shaped thorax	biolink:OntologyClass	hp	UMLS:C1865186	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.	http://purl.obolibrary.org/obo/HP_0001591	hposlim_core	Bell-shaped chest|Constricted, bell-shaped thorax|Narrow, bell-shaped thorax
OBO:HP_0001592	Selective tooth agenesis	biolink:OntologyClass	hp	UMLS:C1970308|UMLS:C4280251	Agenesis specifically affecting one of the classes incisor, premolar, or molar.	http://purl.obolibrary.org/obo/HP_0001592		Absence of a tooth|Missing a tooth|Agenesis of a tooth|Failure of development of a tooth
OBO:HP_0001593	Maxillary lateral incisor microdontia	biolink:OntologyClass	hp	UMLS:C1845111|UMLS:C4280588|UMLS:C4280589	Decreased size of the maxillary permanent incisor.	http://purl.obolibrary.org/obo/HP_0001593		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
OBO:HP_0001595	Abnormal hair morphology	biolink:OntologyClass	hp	UMLS:C0157733|UMLS:C2677869	An abnormality of the hair.	http://purl.obolibrary.org/obo/HP_0001595	hposlim_core	Abnormality of the hair|Hair abnormality|Abnormality of the hair shaft
OBO:HP_0001596	Alopecia	biolink:OntologyClass	hp	MEDDRA:10001760|MSH:D000505|SNOMEDCT_US:278040002|SNOMEDCT_US:56317004|UMLS:C0002170	A noncongenital process of hair loss, which may progress to partial or complete baldness.	http://purl.obolibrary.org/obo/HP_0001596	hposlim_core	Hair loss
OBO:HP_0001597	Abnormality of the nail	biolink:OntologyClass	hp	MSH:D009260|MSH:D009264|SNOMEDCT_US:17790008|UMLS:C0027339|UMLS:C0853087	Abnormality of the nail.	http://purl.obolibrary.org/obo/HP_0001597		Abnormality of the nail|Nail disease
OBO:HP_0001598	Concave nail	biolink:OntologyClass	hp	SNOMEDCT_US:66270006|UMLS:C0221261	The natural longitudinal (posterodistal) convex arch is not present or is inverted.	http://purl.obolibrary.org/obo/HP_0001598	hposlim_core	Spoon-shaped nails|Koilonychia
OBO:HP_0001600	Abnormality of the larynx	biolink:OntologyClass	hp	UMLS:C4021777	An abnormality of the larynx.	http://purl.obolibrary.org/obo/HP_0001600		Laryngeal abnormalities|Laryngeal anomalies
OBO:HP_0001601	Laryngomalacia	biolink:OntologyClass	hp	MSH:D055092|SNOMEDCT_US:38086007|UMLS:C0264303	Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration.	http://purl.obolibrary.org/obo/HP_0001601		Softening of voice box tissue
OBO:HP_0001602	Laryngeal stenosis	biolink:OntologyClass	hp	MSH:D007829|SNOMEDCT_US:75547007|UMLS:C0023075	Stricture or narrowing of the larynx that may be associated with symptoms of respiratory difficulty depending on the degree of laryngeal narrowing.	http://purl.obolibrary.org/obo/HP_0001602		
OBO:HP_0001604	Vocal cord paresis	biolink:OntologyClass	hp	MSH:D014826|SNOMEDCT_US:302912005|SNOMEDCT_US:445424004|UMLS:C0751576|UMLS:C1832690|UMLS:C1843187|UMLS:C1853729	Decreased strength of the vocal folds.	http://purl.obolibrary.org/obo/HP_0001604		Weakness of the vocal cords|Hoarse voice due to vocal cord paresis|Vocal cord paresis in severe cases
OBO:HP_0001605	Vocal cord paralysis	biolink:OntologyClass	hp	MSH:D014826|SNOMEDCT_US:302912005|UMLS:C0042928|UMLS:C1854345	A loss of the ability to move the vocal folds.	http://purl.obolibrary.org/obo/HP_0001605		Inability to move vocal cords|Laryngeal paralysis
OBO:HP_0001606	obsolete Vocal cord paralysis (caused by tumor impingement)	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0001606		
OBO:HP_0001607	Subglottic stenosis	biolink:OntologyClass	hp	SNOMEDCT_US:22668006|UMLS:C0238441		http://purl.obolibrary.org/obo/HP_0001607		
OBO:HP_0001608	Abnormality of the voice	biolink:OntologyClass	hp	UMLS:C4021776		http://purl.obolibrary.org/obo/HP_0001608		Abnormality of the voice|Voice abnormality
OBO:HP_0001609	Hoarse voice	biolink:OntologyClass	hp	MSH:D006685|SNOMEDCT_US:50219008|UMLS:C0019825|UMLS:C1854348	Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.	http://purl.obolibrary.org/obo/HP_0001609		Hoarse voice|Hoarseness|Husky voice
OBO:HP_0001611	Nasal speech	biolink:OntologyClass	hp	SNOMEDCT_US:229645001|SNOMEDCT_US:289190003|UMLS:C0454555|UMLS:C0566620	A type of speech characterized by the presence of an abnormally increased nasal airflow during speech.	http://purl.obolibrary.org/obo/HP_0001611		Nasal speech|Nasal voice|Hypernasal speech|Hypernasal voice
OBO:HP_0001612	Weak cry	biolink:OntologyClass	hp	SNOMEDCT_US:2120003|UMLS:C0234860		http://purl.obolibrary.org/obo/HP_0001612		
OBO:HP_0001613	obsolete Hoarse voice (caused by tumor impingement)	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0001613		
OBO:HP_0001615	Hoarse cry	biolink:OntologyClass	hp	UMLS:C2678303		http://purl.obolibrary.org/obo/HP_0001615		Hoarse cry
OBO:HP_0001618	Dysphonia	biolink:OntologyClass	hp	MSH:D055154|SNOMEDCT_US:47004009|UMLS:C1527344	An impairment in the ability to produce voice sounds.	http://purl.obolibrary.org/obo/HP_0001618		Inability to produce voice sounds
OBO:HP_0001620	High pitched voice	biolink:OntologyClass	hp	SNOMEDCT_US:51406002|UMLS:C0241703	An abnormal increase in the pitch (frequency) of the voice.	http://purl.obolibrary.org/obo/HP_0001620		High pitched voice|High-pitched voice
OBO:HP_0001621	Weak voice	biolink:OntologyClass	hp	MSH:D014832|SNOMEDCT_US:34527004|SNOMEDCT_US:8614008|UMLS:C0241700|UMLS:C0521007	Reduced intensity (volume) of speech.	http://purl.obolibrary.org/obo/HP_0001621		Soft voice|Weak voice|Hypophonia
OBO:HP_0001622	Premature birth	biolink:OntologyClass	hp	MSH:D047928|SNOMEDCT_US:282020008|SNOMEDCT_US:367494004|SNOMEDCT_US:49550006|UMLS:C0151526|UMLS:C0233315	The birth of a baby of less than 37 weeks of gestational age.	http://purl.obolibrary.org/obo/HP_0001622		Premature birth|Premature delivery of affected infants|Preterm delivery|Premature delivery|Shortened gestation time
OBO:HP_0001623	Breech presentation	biolink:OntologyClass	hp	MSH:D001946|SNOMEDCT_US:249101006|SNOMEDCT_US:6096002|UMLS:C0006157	A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first.	http://purl.obolibrary.org/obo/HP_0001623		Feet or buttocks of fetus positioned near opening of uterus|Breech presentation at birth
OBO:HP_0001626	Abnormality of the cardiovascular system	biolink:OntologyClass	hp	MSH:D002318|MSH:D018376|SNOMEDCT_US:49601007|UMLS:C0007222|UMLS:C0243050	Any abnormality of the cardiovascular system.	http://purl.obolibrary.org/obo/HP_0001626		Abnormality of the cardiovascular system|Cardiovascular abnormality|Cardiovascular disease
OBO:HP_0001627	Abnormal heart morphology	biolink:OntologyClass	hp	MSH:D006330|SNOMEDCT_US:13213009|UMLS:C0018798|UMLS:C0152021	Any structural anomaly of the heart.	http://purl.obolibrary.org/obo/HP_0001627		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
OBO:HP_0001629	Ventricular septal defect	biolink:OntologyClass	hp	Fyler:1300|MSH:D006345|SNOMEDCT_US:253549006|SNOMEDCT_US:30288003|UMLS:C0018818	A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.	http://purl.obolibrary.org/obo/HP_0001629		VSD|Hole in heart wall separating two lower heart chambers|Ventricular septal defects|Ventriculoseptal defect
OBO:HP_0001631	Atrial septal defect	biolink:OntologyClass	hp	Fyler:2050|ICD-10:Q21.1|MSH:D006344|SNOMEDCT_US:253366007|SNOMEDCT_US:405752007|SNOMEDCT_US:70142008|UMLS:C0018817	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.	http://purl.obolibrary.org/obo/HP_0001631		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
OBO:HP_0001633	Abnormal mitral valve morphology	biolink:OntologyClass	hp	UMLS:C4025759	Any structural anomaly of the mitral valve.	http://purl.obolibrary.org/obo/HP_0001633		Abnormality of the mitral valve
OBO:HP_0001634	Mitral valve prolapse	biolink:OntologyClass	hp	Fyler:1533|MSH:D008945|SNOMEDCT_US:409712001|SNOMEDCT_US:8074002|UMLS:C0026267	One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.	http://purl.obolibrary.org/obo/HP_0001634		
OBO:HP_0001635	Congestive heart failure	biolink:OntologyClass	hp	MSH:D006333|SNOMEDCT_US:42343007|SNOMEDCT_US:84114007|UMLS:C0018801|UMLS:C0018802	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.	http://purl.obolibrary.org/obo/HP_0001635		CHF|Cardiac failure|Cardiac failures|Heart failure|Cardiac insufficiency|Chronic heart failure
OBO:HP_0001636	Tetralogy of Fallot	biolink:OntologyClass	hp	ICD-10:Q21.3|MSH:D013771|SNOMEDCT_US:86299006|UMLS:C0039685	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.	http://purl.obolibrary.org/obo/HP_0001636		Tetrology of fallot
OBO:HP_0001637	Abnormal myocardium morphology	biolink:OntologyClass	hp	UMLS:C4025758	A structural anomaly of the muscle layer of the heart wall.	http://purl.obolibrary.org/obo/HP_0001637		Abnormality of the myocardium
OBO:HP_0001638	Cardiomyopathy	biolink:OntologyClass	hp	Fyler:1840|MSH:D009202|SNOMEDCT_US:57809008|SNOMEDCT_US:85898001|UMLS:C0878544	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.	http://purl.obolibrary.org/obo/HP_0001638		Disease of the heart muscle
OBO:HP_0001639	Hypertrophic cardiomyopathy	biolink:OntologyClass	hp	MSH:D002312|SNOMEDCT_US:233873004|SNOMEDCT_US:45227007|UMLS:C0007194	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.	http://purl.obolibrary.org/obo/HP_0001639		HCM|Enlarged and thickened heart muscle|Cardiomyopathy, hypertrophic
OBO:HP_0001640	Cardiomegaly	biolink:OntologyClass	hp	MSH:D006332|SNOMEDCT_US:8186001|UMLS:C0018800	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.	http://purl.obolibrary.org/obo/HP_0001640		Enlarged heart|Increased heart size
OBO:HP_0001641	Abnormal pulmonary valve morphology	biolink:OntologyClass	hp	Fyler:1600|Fyler:1602|SNOMEDCT_US:448643005|UMLS:C3164374	Any structural abnormality of the pulmonary valve.	http://purl.obolibrary.org/obo/HP_0001641		Abnormality of the pulmonary valve|Anomaly of the pulmonary valve
OBO:HP_0001642	Pulmonic stenosis	biolink:OntologyClass	hp	Fyler:1611|MSH:D011666|SNOMEDCT_US:56786000|UMLS:C1956257	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).	http://purl.obolibrary.org/obo/HP_0001642		Narrowing of pulmonic valve|Pulmonary stenosis|Pulmonary valve stenosis|Pulmonic valve stenosis
OBO:HP_0001643	Patent ductus arteriosus	biolink:OntologyClass	hp	Fyler:2100|MSH:D004374|SNOMEDCT_US:83330001|UMLS:C0013274	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.	http://purl.obolibrary.org/obo/HP_0001643		PDA|Ductus arteriosus|Persistent arterial duct|Persistent ductus arteriosus
OBO:HP_0001644	Dilated cardiomyopathy	biolink:OntologyClass	hp	Fyler:1843|MSH:D002311|SNOMEDCT_US:195021004|SNOMEDCT_US:399020009|UMLS:C0007193	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.	http://purl.obolibrary.org/obo/HP_0001644		DCM|Stretched and thinned heart muscle|Cardiomyopathy, dilated|Congestive cardiomyopathy
OBO:HP_0001645	Sudden cardiac death	biolink:OntologyClass	hp	MSH:D016757|SNOMEDCT_US:95281009|UMLS:C0085298	The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).	http://purl.obolibrary.org/obo/HP_0001645		Premature sudden cardiac death|Sudden cardiac death
OBO:HP_0001646	Abnormal aortic valve morphology	biolink:OntologyClass	hp	Fyler:1400|Fyler:1408|SNOMEDCT_US:448743001|UMLS:C3164445	Any abnormality of the aortic valve.	http://purl.obolibrary.org/obo/HP_0001646		Abnormality of the aortic valve
OBO:HP_0001647	Bicuspid aortic valve	biolink:OntologyClass	hp	MSH:C562388|SNOMEDCT_US:72352009|UMLS:C0149630	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).	http://purl.obolibrary.org/obo/HP_0001647		Aortic valve has two leaflets rather than three
OBO:HP_0001648	Cor pulmonale	biolink:OntologyClass	hp	MSH:D011660|SNOMEDCT_US:274096000|SNOMEDCT_US:83291003|UMLS:C0034072	Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle.	http://purl.obolibrary.org/obo/HP_0001648		
OBO:HP_0001649	Tachycardia	biolink:OntologyClass	hp	MSH:D013610|SNOMEDCT_US:3424008|SNOMEDCT_US:86651002|UMLS:C0039231|UMLS:C4020868	A rapid heartrate that exceeds the range of the normal resting heartrate for age.	http://purl.obolibrary.org/obo/HP_0001649		Fast heart rate|Heart racing|Racing heart|Elevated heart rate|Increased heart rate|Rapid heart beat
OBO:HP_0001650	Aortic valve stenosis	biolink:OntologyClass	hp	Fyler:1411|MSH:D001024|SNOMEDCT_US:60573004|UMLS:C0003507	The presence of a stenosis (narrowing) of the aortic valve.	http://purl.obolibrary.org/obo/HP_0001650		Narrowing of aortic valve|Aortic stenosis|Valvular aortic stenosis
OBO:HP_0001651	Dextrocardia	biolink:OntologyClass	hp	EPCC:02.01.02|Fyler:0110|Fyler:110|ICD-10:Q24.0|MSH:D003914|SNOMEDCT_US:27637000|UMLS:C0011813	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.	http://purl.obolibrary.org/obo/HP_0001651		Heart tip and four chambers point towards right side of body|Thoracic situs inversus
OBO:HP_0001653	Mitral regurgitation	biolink:OntologyClass	hp	Fyler:1151|MSH:D008944|SNOMEDCT_US:48724000|UMLS:C0026266|UMLS:C3551535	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.	http://purl.obolibrary.org/obo/HP_0001653		Mitral incompetence|Mitral insufficiency|Mitral valve insufficiency|Mitral valve regurgitation|Mitral regurgitation, mild
OBO:HP_0001654	Abnormal heart valve morphology	biolink:OntologyClass	hp	MSH:D006349|SNOMEDCT_US:368009|UMLS:C0018824|UMLS:C0241654	Any structural abnormality of a cardiac valve.	http://purl.obolibrary.org/obo/HP_0001654		Abnormality of the heart valves|Valvular abnormality|Valvular heart disease
OBO:HP_0001655	Patent foramen ovale	biolink:OntologyClass	hp	Fyler:2020|ICD-10:Q21.1|MSH:D054092|SNOMEDCT_US:204317008|UMLS:C0016522	Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria.	http://purl.obolibrary.org/obo/HP_0001655		Persistent foramen ovale
OBO:HP_0001657	Prolonged QT interval	biolink:OntologyClass	hp	SNOMEDCT_US:111975006|UMLS:C0151878	Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).	http://purl.obolibrary.org/obo/HP_0001657		Long QT syndrome|Prolong qt interval on ekg|Long Q-T syndrome
OBO:HP_0001658	Myocardial infarction	biolink:OntologyClass	hp	MSH:D009203|SNOMEDCT_US:22298006|UMLS:C0027051	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.	http://purl.obolibrary.org/obo/HP_0001658		MI|Heart attack
OBO:HP_0001659	Aortic regurgitation	biolink:OntologyClass	hp	MSH:D001022|SNOMEDCT_US:60234000|UMLS:C0003504	An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle.	http://purl.obolibrary.org/obo/HP_0001659		Aortic insufficiency|Aortic valve regurgitation
OBO:HP_0001660	Truncus arteriosus	biolink:OntologyClass	hp	Fyler:0500|Fyler:500|ICD-10:Q20.0|MSH:D014338|SNOMEDCT_US:58140002|UMLS:C0041206|UMLS:C4020867	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.	http://purl.obolibrary.org/obo/HP_0001660		Common arterial trunk|Persistant truncus arteriosus
OBO:HP_0001662	Bradycardia	biolink:OntologyClass	hp	MSH:D001919|SNOMEDCT_US:48867003|UMLS:C0428977	A slower than normal heart rate (in adults, slower than 60 beats per minute).	http://purl.obolibrary.org/obo/HP_0001662		Slow heartbeats|Brachycardia
OBO:HP_0001663	Ventricular fibrillation	biolink:OntologyClass	hp	MSH:D014693|SNOMEDCT_US:71908006|UMLS:C0042510	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.	http://purl.obolibrary.org/obo/HP_0001663		
OBO:HP_0001664	Torsade de pointes	biolink:OntologyClass	hp	MSH:D016171|SNOMEDCT_US:31722008|UMLS:C0040479	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.	http://purl.obolibrary.org/obo/HP_0001664		Torsades de pointes
OBO:HP_0001667	Right ventricular hypertrophy	biolink:OntologyClass	hp	Fyler:3609|MSH:D017380|SNOMEDCT_US:89792004|UMLS:C0162770	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.	http://purl.obolibrary.org/obo/HP_0001667		Heart right ventricle hypertrophy
OBO:HP_0001669	Transposition of the great arteries	biolink:OntologyClass	hp	SNOMEDCT_US:204296002|SNOMEDCT_US:26146002|UMLS:C3536741	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.	http://purl.obolibrary.org/obo/HP_0001669		Transposition of great vessels
OBO:HP_0001670	Asymmetric septal hypertrophy	biolink:OntologyClass	hp	UMLS:C0205700	Hypertrophic cardiomyopathy with an asymmetrical pattern of hypertrophy, with a predilection for the interventricular septum and myocyte disarray.	http://purl.obolibrary.org/obo/HP_0001670		
OBO:HP_0001671	Abnormal cardiac septum morphology	biolink:OntologyClass	hp	MSH:D006343|SNOMEDCT_US:253273004|SNOMEDCT_US:396351009|SNOMEDCT_US:59494005|UMLS:C0018816	An anomaly of the intra-atrial or intraventricular septum.	http://purl.obolibrary.org/obo/HP_0001671		Septal defects|Abnormality of the cardiac septa|Heart septal defect
OBO:HP_0001673	obsolete Tachycardia (with pheochromocytoma)	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0001673		
OBO:HP_0001674	Complete atrioventricular canal defect	biolink:OntologyClass	hp	Fyler:1120	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.	http://purl.obolibrary.org/obo/HP_0001674		Atrioventricular canal|Common atrioventricular canal|Complete atrioventricular septal defect|Complete common AV canal
OBO:HP_0001675	obsolete Rhythm disturbances associated with pheochromocytoma	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0001675		
OBO:HP_0001676	obsolete Palpitations (with pheochromocytoma)	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0001676		
OBO:HP_0001677	Coronary artery atherosclerosis	biolink:OntologyClass	hp	MSH:D003324|SNOMEDCT_US:414024009|SNOMEDCT_US:53741008|UMLS:C1956346	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.	http://purl.obolibrary.org/obo/HP_0001677		Plaque build-up in arteries supplying blood to heart|Coronary atherosclerosis|Coronary disease
OBO:HP_0001678	Atrioventricular block	biolink:OntologyClass	hp	MSH:D054537|SNOMEDCT_US:233917008|UMLS:C0004245|UMLS:C1841659	Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles.	http://purl.obolibrary.org/obo/HP_0001678		Interruption of electrical communication between upper and lower chambers of heart|Atrioventricular nodal disease
OBO:HP_0001679	Abnormal aortic morphology	biolink:OntologyClass	hp	Fyler:1453|UMLS:C4025756	An abnormality of the aorta.	http://purl.obolibrary.org/obo/HP_0001679		Abnormal aorta morphology|Abnormality of the aorta
OBO:HP_0001680	Coarctation of aorta	biolink:OntologyClass	hp	MSH:D001017|SNOMEDCT_US:7305005|UMLS:C0003492	Coarctation of the aorta is a narrowing or constriction of a segment of the aorta.	http://purl.obolibrary.org/obo/HP_0001680		Narrowing of aorta|Narrowing of the aorta|Aortic coarctation|Coarctation of the aorta
OBO:HP_0001681	Angina pectoris	biolink:OntologyClass	hp	MSH:D000787|SNOMEDCT_US:194828000|SNOMEDCT_US:225566008|UMLS:C0002962	Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia.	http://purl.obolibrary.org/obo/HP_0001681		
OBO:HP_0001682	Subvalvular aortic stenosis	biolink:OntologyClass	hp	MSH:D001020|SNOMEDCT_US:204368006|UMLS:C0340375	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.	http://purl.obolibrary.org/obo/HP_0001682		Narrowing of blood vessel below aortic heart valve|Subaortic stenosis
OBO:HP_0001683	Ectopia cordis	biolink:OntologyClass	hp	Fyler:0170|Fyler:170|MSH:D054083|SNOMEDCT_US:78250005|UMLS:C0013580	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.	http://purl.obolibrary.org/obo/HP_0001683		
OBO:HP_0001684	Secundum atrial septal defect	biolink:OntologyClass	hp	Fyler:2000|ICD-10:Q21.1|MSH:D006344|SNOMEDCT_US:204315000|UMLS:C0344724	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.	http://purl.obolibrary.org/obo/HP_0001684		Atrial septal defect, ostium secundum type|Ostium secundum atrial septal defect|Patent ostium secundum
OBO:HP_0001685	Myocardial fibrosis	biolink:OntologyClass	hp	UMLS:C0151654	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.	http://purl.obolibrary.org/obo/HP_0001685		
OBO:HP_0001686	Loss of voice	biolink:OntologyClass	hp	MSH:D001044|SNOMEDCT_US:441913003|SNOMEDCT_US:44564008|UMLS:C0003564		http://purl.obolibrary.org/obo/HP_0001686		Aphonia
OBO:HP_0001688	Sinus bradycardia	biolink:OntologyClass	hp	Fyler:7013|SNOMEDCT_US:49710005|UMLS:C0085610	Bradycardia related to a mean resting sinus rate of less than 50 beats per minute.	http://purl.obolibrary.org/obo/HP_0001688		
OBO:HP_0001691	Muscular subvalvular aortic stenosis	biolink:OntologyClass	hp	UMLS:C3887554	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.	http://purl.obolibrary.org/obo/HP_0001691		Muscular subaortic stenosis
OBO:HP_0001692	Atrial arrhythmia	biolink:OntologyClass	hp	SNOMEDCT_US:17366009|UMLS:C0085611|UMLS:C4025755	A type of supraventricular tachycardia in which the atria are the principal site of electrophysiologic disturbance.	http://purl.obolibrary.org/obo/HP_0001692		Primary atrial arrhythmia
OBO:HP_0001693	Cardiac shunt	biolink:OntologyClass	hp	SNOMEDCT_US:442119001|UMLS:C0232180	Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system.	http://purl.obolibrary.org/obo/HP_0001693		
OBO:HP_0001694	Right-to-left shunt	biolink:OntologyClass	hp	SNOMEDCT_US:79692001|UMLS:C0428871	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.	http://purl.obolibrary.org/obo/HP_0001694		
OBO:HP_0001695	Cardiac arrest	biolink:OntologyClass	hp	MSH:D006323|SNOMEDCT_US:397829000|SNOMEDCT_US:410429000|UMLS:C0018790	An abrupt loss of heart function.	http://purl.obolibrary.org/obo/HP_0001695		Heart stops beating
OBO:HP_0001696	Situs inversus totalis	biolink:OntologyClass	hp	Fyler:0100|Fyler:100|MSH:D012857|MSH:D059446|SNOMEDCT_US:14821001|SNOMEDCT_US:24614000|SNOMEDCT_US:27317008|SNOMEDCT_US:43876007|UMLS:C0037221|UMLS:C0266642	A left-right reversal (or "mirror reflection") of the anatomical location of the major thoracic and abdominal organs.	http://purl.obolibrary.org/obo/HP_0001696		All organs on wrong side of body|situs oppositus|situs transversus|Situs inversus
OBO:HP_0001697	Abnormal pericardium morphology	biolink:OntologyClass	hp	Fyler:1900|UMLS:C4025754	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.	http://purl.obolibrary.org/obo/HP_0001697		Abnormality of the pericardium
OBO:HP_0001698	Pericardial effusion	biolink:OntologyClass	hp	Fyler:1940|MSH:D010490|SNOMEDCT_US:373945007|UMLS:C0031039	Accumulation of fluid within the pericardium.	http://purl.obolibrary.org/obo/HP_0001698		Fluid around heart|Pericardial effusions
OBO:HP_0001699	Sudden death	biolink:OntologyClass	hp	MSH:D003645|SNOMEDCT_US:26636000|UMLS:C0011071	Rapid and unexpected death.	http://purl.obolibrary.org/obo/HP_0001699		
OBO:HP_0001700	Myocardial necrosis	biolink:OntologyClass	hp	SNOMEDCT_US:251061000|UMLS:C1442837	Irreversible damage to heart tissue (myocardium) due to lack of oxygen after a heart attack (myocardial infarction).	http://purl.obolibrary.org/obo/HP_0001700		
OBO:HP_0001701	Pericarditis	biolink:OntologyClass	hp	MSH:D010493|SNOMEDCT_US:3238004|UMLS:C0031046	Inflammation of the sac-like covering around the heart (pericardium).	http://purl.obolibrary.org/obo/HP_0001701		Swelling or irritation of membrane around heart
OBO:HP_0001702	Abnormal tricuspid valve morphology	biolink:OntologyClass	hp	EPCC:06.01.00|UMLS:C4025753	Any structural anomaly of the tricuspid valve.	http://purl.obolibrary.org/obo/HP_0001702		Abnormality of the tricuspid valve
OBO:HP_0001704	Tricuspid valve prolapse	biolink:OntologyClass	hp	Fyler:1733|MSH:D014263|SNOMEDCT_US:253383003|UMLS:C0040962	One or more of the leaflets (cusps) of the tricuspid valve bulges back into the right atrium upon contraction of the right ventricle.	http://purl.obolibrary.org/obo/HP_0001704		
OBO:HP_0001705	Right ventricular outlet tract obstruction	biolink:OntologyClass	hp	MSH:D014694|UMLS:C0035619	An obstruction to the forward flow of blood in the outflow tract of the right ventricle.	http://purl.obolibrary.org/obo/HP_0001705		Right ventricular outlet obstruction
OBO:HP_0001706	Endocardial fibroelastosis	biolink:OntologyClass	hp	MSH:D004695|SNOMEDCT_US:65457005|UMLS:C0014117	Diffuse thickening of the ventricular endocardium and by associated myocardial dysfunction	http://purl.obolibrary.org/obo/HP_0001706		
OBO:HP_0001707	Abnormal right ventricle morphology	biolink:OntologyClass	hp	Fyler:1820|SNOMEDCT_US:253516002|UMLS:C0344887	An abnormality of the right ventricle of the heart.	http://purl.obolibrary.org/obo/HP_0001707		Abnormality of the right ventricle|Right ventricular abnormality
OBO:HP_0001708	Right ventricular failure	biolink:OntologyClass	hp	MSH:D006333|SNOMEDCT_US:128404006|SNOMEDCT_US:367363000|UMLS:C0235527|UMLS:C2939447	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.	http://purl.obolibrary.org/obo/HP_0001708		Impaired right ventricular function|Right ventricular impairment|Right-sided heart failure
OBO:HP_0001709	Third degree atrioventricular block	biolink:OntologyClass	hp	SNOMEDCT_US:27885002|UMLS:C0151517	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.	http://purl.obolibrary.org/obo/HP_0001709		Complete heart block|Third-degree heart block
OBO:HP_0001710	Conotruncal defect	biolink:OntologyClass	hp	UMLS:C1853238	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.	http://purl.obolibrary.org/obo/HP_0001710		Conotruncal heart defects
OBO:HP_0001711	Abnormal left ventricle morphology	biolink:OntologyClass	hp	Fyler:1810|SNOMEDCT_US:253535002|UMLS:C0344905	Any structural abnormality of the left ventricle of the heart.	http://purl.obolibrary.org/obo/HP_0001711		Abnormal heart left ventricle morphology|Abnormality of the left ventricle|Left ventricular abnormality
OBO:HP_0001712	Left ventricular hypertrophy	biolink:OntologyClass	hp	Fyler:3608|MSH:D017379|SNOMEDCT_US:55827005|UMLS:C0149721	Enlargement or increased size of the heart left ventricle.	http://purl.obolibrary.org/obo/HP_0001712		Heart left ventricle hypertrophy|Left ventricular wall hypertrophy
OBO:HP_0001713	Abnormal cardiac ventricle morphology	biolink:OntologyClass	hp	UMLS:C4025752	An abnormality of a cardiac ventricle.	http://purl.obolibrary.org/obo/HP_0001713		Abnormality of cardiac ventricle
OBO:HP_0001714	Ventricular hypertrophy	biolink:OntologyClass	hp	SNOMEDCT_US:266249003|UMLS:C0340279	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.	http://purl.obolibrary.org/obo/HP_0001714		
OBO:HP_0001716	Wolff-Parkinson-White syndrome	biolink:OntologyClass	hp	MSH:D014927|SNOMEDCT_US:74390002|UMLS:C0043202	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.	http://purl.obolibrary.org/obo/HP_0001716		
OBO:HP_0001717	Coronary artery calcification	biolink:OntologyClass	hp	SNOMEDCT_US:445512009|UMLS:C1611184	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.	http://purl.obolibrary.org/obo/HP_0001717		
OBO:HP_0001718	Mitral stenosis	biolink:OntologyClass	hp	EPCC:06.02.92|Fyler:1511|ICD-10:Q23.2|MSH:D008946|SNOMEDCT_US:79619009|UMLS:C0026269	An abnormal narrowing of the orifice of the mitral valve.	http://purl.obolibrary.org/obo/HP_0001718		Mitral valve stenosis
OBO:HP_0001719	Double outlet right ventricle	biolink:OntologyClass	hp	Fyler:600|Fyler:606|MSH:D004310|SNOMEDCT_US:7484005|UMLS:C0013069	Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle.	http://purl.obolibrary.org/obo/HP_0001719		DORV|Double-outlet right ventricle
OBO:HP_0001722	High-output congestive heart failure	biolink:OntologyClass	hp	UMLS:C0742747	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.	http://purl.obolibrary.org/obo/HP_0001722		
OBO:HP_0001723	Restrictive cardiomyopathy	biolink:OntologyClass	hp	MSH:D002313|SNOMEDCT_US:415295002|SNOMEDCT_US:90828009|UMLS:C0007196	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.	http://purl.obolibrary.org/obo/HP_0001723		
OBO:HP_0001724	obsolete Aortic dilatation	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0001724		
OBO:HP_0001726	obsolete Increased prevalence of valvular disease	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0001726		
OBO:HP_0001727	Thromboembolic stroke	biolink:OntologyClass	hp	UMLS:C1112433	A cerebrovascular accident (stroke) that occurs because of thromboembolism.	http://purl.obolibrary.org/obo/HP_0001727		
OBO:HP_0001730	Progressive hearing impairment	biolink:OntologyClass	hp	UMLS:C1842138	A progressive form of hearing impairment.	http://purl.obolibrary.org/obo/HP_0001730		Progressive hearing loss
OBO:HP_0001732	Abnormality of the pancreas	biolink:OntologyClass	hp	MSH:D010182|SNOMEDCT_US:3855007|UMLS:C0030286|UMLS:C4025751	An abnormality of the pancreas.	http://purl.obolibrary.org/obo/HP_0001732		Abnormality of the pancreas|Pancreatic disease
OBO:HP_0001733	Pancreatitis	biolink:OntologyClass	hp	MSH:D010195|SNOMEDCT_US:75694006|UMLS:C0030305	The presence of inflammation in the pancreas.	http://purl.obolibrary.org/obo/HP_0001733		Pancreatic inflammation
OBO:HP_0001734	Annular pancreas	biolink:OntologyClass	hp	MSH:C536376|SNOMEDCT_US:40315008|UMLS:C0149955	A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum.	http://purl.obolibrary.org/obo/HP_0001734		
OBO:HP_0001735	Acute pancreatitis	biolink:OntologyClass	hp	SNOMEDCT_US:197456007|UMLS:C0001339	A acute form of pancreatitis.	http://purl.obolibrary.org/obo/HP_0001735		Acute pancreatic inflammation|Pancreatitis, acute
OBO:HP_0001737	Pancreatic cysts	biolink:OntologyClass	hp	MSH:D010181|SNOMEDCT_US:31258000|UMLS:C0030283|UMLS:C1860394	A cyst of the pancreas that possess a lining of mucous epithelium.	http://purl.obolibrary.org/obo/HP_0001737		Pancreatic cysts|Multiple pancreatic cysts|Pancreatic cyst
OBO:HP_0001738	Exocrine pancreatic insufficiency	biolink:OntologyClass	hp	MSH:D010188|SNOMEDCT_US:37992001|SNOMEDCT_US:47367009|UMLS:C0030293|UMLS:C0267963	Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes.	http://purl.obolibrary.org/obo/HP_0001738		Inability to properly digest food due to lack of pancreatic digestive enzymes|Pancreatic insufficiency
OBO:HP_0001739	Abnormal nasopharynx morphology	biolink:OntologyClass	hp	UMLS:C4025750	A structural anomaly of the nasopharynx.	http://purl.obolibrary.org/obo/HP_0001739		Abnormality of the nasopharynx
OBO:HP_0001741	Phimosis	biolink:OntologyClass	hp	SNOMEDCT_US:253854008|UMLS:C0345326	The male foreskin cannot be fully retracted from the head of the penis.	http://purl.obolibrary.org/obo/HP_0001741		
OBO:HP_0001742	Nasal obstruction	biolink:OntologyClass	hp	MSH:D015508|SNOMEDCT_US:232209000|SNOMEDCT_US:267100006|SNOMEDCT_US:68235000|UMLS:C0027424|UMLS:C0027429	Reduced ability to pass air through the nasal cavity often leading to mouth breathing.	http://purl.obolibrary.org/obo/HP_0001742		Blockage of nose|Nasal blockage|Nasal obstruction|Obstruction of nose|Stuffy nose|Congestion of nose|Nasal congestion
OBO:HP_0001743	Abnormality of the spleen	biolink:OntologyClass	hp	UMLS:C4025749	An abnormality of the spleen.	http://purl.obolibrary.org/obo/HP_0001743		Abnormality of the spleen
OBO:HP_0001744	Splenomegaly	biolink:OntologyClass	hp	MSH:D013163|SNOMEDCT_US:16294009|UMLS:C0038002	Abnormal increased size of the spleen.	http://purl.obolibrary.org/obo/HP_0001744		Increased spleen size
OBO:HP_0001746	Asplenia	biolink:OntologyClass	hp	Fyler:4771|SNOMEDCT_US:702624008|SNOMEDCT_US:707147002|SNOMEDCT_US:93030006|UMLS:C0600031	Absence (aplasia) of the spleen.	http://purl.obolibrary.org/obo/HP_0001746		Absent spleen
OBO:HP_0001747	Accessory spleen	biolink:OntologyClass	hp	Fyler:4772|SNOMEDCT_US:10362008|UMLS:C0266631	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.	http://purl.obolibrary.org/obo/HP_0001747		
OBO:HP_0001748	Polysplenia	biolink:OntologyClass	hp	UMLS:C1856659	Polysplenia is a congenital disease manifested by multiple small accessory spleens.	http://purl.obolibrary.org/obo/HP_0001748		Multiple small spleens|Accessory spleens|Multiple accessory spleens
OBO:HP_0001750	Single ventricle	biolink:OntologyClass	hp	Fyler:0200|Fyler:200|SNOMEDCT_US:45503006|UMLS:C0152424	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.	http://purl.obolibrary.org/obo/HP_0001750		Common ventricle
OBO:HP_0001751	Vestibular dysfunction	biolink:OntologyClass	hp	UMLS:C1843865	An abnormality of the functioning of the vestibular apparatus.	http://purl.obolibrary.org/obo/HP_0001751		Impaired vestibular function|Interictal vestibular dysfunction|Vestibular function defect
OBO:HP_0001756	Vestibular hypofunction	biolink:OntologyClass	hp	UMLS:C1848606	Reduced functioning of the vestibular apparatus.	http://purl.obolibrary.org/obo/HP_0001756		
OBO:HP_0001757	High-frequency sensorineural hearing impairment	biolink:OntologyClass	hp	UMLS:C4021775	A form of sensorineural hearing impairment that affects primarily the higher frequencies.	http://purl.obolibrary.org/obo/HP_0001757		High frequency sensorineural hearing impairment|High-tone sensorineural deafness|High-tone sensorineural hearing impairment
OBO:HP_0001760	Abnormal foot morphology	biolink:OntologyClass	hp	MSH:D005530|SNOMEDCT_US:229844004|UMLS:C0016506	An abnormality of the skeleton of foot.	http://purl.obolibrary.org/obo/HP_0001760		Abnormal feet structure|Abnormality of the feet|Abnormality of the foot|Foot deformities|Foot deformity
OBO:HP_0001761	Pes cavus	biolink:OntologyClass	hp	MEDDRA:10034743|SNOMEDCT_US:205091006|UMLS:C0728829	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.	http://purl.obolibrary.org/obo/HP_0001761	hposlim_core	High-arched foot
OBO:HP_0001762	Talipes equinovarus	biolink:OntologyClass	hp	Fyler:4171|MEDDRA:10043106|MSH:D003025|SNOMEDCT_US:249808002|SNOMEDCT_US:397932003|UMLS:C0009081	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.	http://purl.obolibrary.org/obo/HP_0001762	hposlim_core	Club feet|Club foot|Clubfeet|Clubfoot|Clubbing of feet|Equinovarus|Foot, talipes equinovarus|Pes equinovarus|Pes equinus|Talipes varus
OBO:HP_0001763	Pes planus	biolink:OntologyClass	hp	MSH:D005413|SNOMEDCT_US:203534009|SNOMEDCT_US:53226007|UMLS:C0016202|UMLS:C0264133	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.	http://purl.obolibrary.org/obo/HP_0001763	hposlim_core	Flat feet|Flat foot|Dropped arches|Fallen arches
OBO:HP_0001765	Hammertoe	biolink:OntologyClass	hp	MSH:D037801|SNOMEDCT_US:122481008|UMLS:C1136179	Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint.	http://purl.obolibrary.org/obo/HP_0001765	hposlim_core	Hammer toe|Hammertoe|Hammertoes
OBO:HP_0001769	Broad foot	biolink:OntologyClass	hp	UMLS:C1866241	A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length.	http://purl.obolibrary.org/obo/HP_0001769	hposlim_core	Broad feet|Broad foot|Wide foot
OBO:HP_0001770	Toe syndactyly	biolink:OntologyClass	hp	SNOMEDCT_US:32113001|UMLS:C0265660	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".	http://purl.obolibrary.org/obo/HP_0001770		Fused toes|Webbed toes|Foot syndactyly|Syndactyly of feet|Syndactyly of toes
OBO:HP_0001771	Achilles tendon contracture	biolink:OntologyClass	hp	SNOMEDCT_US:203076007|UMLS:C0410264	A contracture of the Achilles tendon.	http://purl.obolibrary.org/obo/HP_0001771		Shortening of the achilles tendon|Tight achilles tendon|Achilles tendon contractures|Contractures of the Achilles tendon
OBO:HP_0001772	Talipes equinovalgus	biolink:OntologyClass	hp	MSH:D004863|SNOMEDCT_US:68284008|UMLS:C0265642|UMLS:C4020866	A deformity of foot and ankle in which the foot is bent down and outwards.	http://purl.obolibrary.org/obo/HP_0001772		Equinovalgus deformity
OBO:HP_0001773	Short foot	biolink:OntologyClass	hp	UMLS:C1848673	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).	http://purl.obolibrary.org/obo/HP_0001773		Short feet|Short foot|Small feet|Hypoplastic feet
OBO:HP_0001775	Tarsal osteovalgus	biolink:OntologyClass	hp	UMLS:C4025748		http://purl.obolibrary.org/obo/HP_0001775		
OBO:HP_0001776	Bilateral talipes equinovarus	biolink:OntologyClass	hp	UMLS:C1837835	Bilateral clubfoot deformity (see HP:0001762).	http://purl.obolibrary.org/obo/HP_0001776		Club foot on both sides|Bilateral clubfeet|Bilateral clubfoot
OBO:HP_0001780	Abnormality of toe	biolink:OntologyClass	hp	UMLS:C2674738	An anomaly of a toe.	http://purl.obolibrary.org/obo/HP_0001780	hposlim_core	Abnormalities of the toes|Abnormality of toe
OBO:HP_0001782	Bulbous tips of toes	biolink:OntologyClass	hp	UMLS:C4025747	An abnormality of the morphology of the toes, such that the tips of the toes are prominent and bulbous.	http://purl.obolibrary.org/obo/HP_0001782		
OBO:HP_0001783	Broad metatarsal	biolink:OntologyClass	hp	UMLS:C1842231|UMLS:C1850161	Increased side-to-side width of a metatarsal bone.	http://purl.obolibrary.org/obo/HP_0001783		Wide long bone of foot|Broad metatarsals|Widened metatarsal shaft
OBO:HP_0001785	Ankle swelling	biolink:OntologyClass	hp	SNOMEDCT_US:26237000|SNOMEDCT_US:267039000|UMLS:C0235439		http://purl.obolibrary.org/obo/HP_0001785		Ankle swelling
OBO:HP_0001786	Narrow foot	biolink:OntologyClass	hp	SNOMEDCT_US:299464006|UMLS:C0576227	A foot for which the measured width is below the 5th centile for age; or, a foot that appears disproportionately narrow for its length.	http://purl.obolibrary.org/obo/HP_0001786	hposlim_core	Narrow foot|Slender feet
OBO:HP_0001787	Abnormal delivery	biolink:OntologyClass	hp	SNOMEDCT_US:274127000|UMLS:C0549629	An abnormality of the birth process.	http://purl.obolibrary.org/obo/HP_0001787		Abnormal delivery|Delivery complication
OBO:HP_0001788	Premature rupture of membranes	biolink:OntologyClass	hp	MSH:D005322|SNOMEDCT_US:237266003|SNOMEDCT_US:44223004|UMLS:C0015944	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.	http://purl.obolibrary.org/obo/HP_0001788		
OBO:HP_0001789	Hydrops fetalis	biolink:OntologyClass	hp	MSH:D015160|SNOMEDCT_US:276508000|UMLS:C0020305	The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.	http://purl.obolibrary.org/obo/HP_0001789		
OBO:HP_0001790	Nonimmune hydrops fetalis	biolink:OntologyClass	hp	MSH:D015160|SNOMEDCT_US:206538000|SNOMEDCT_US:276509008|UMLS:C0455988	A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens .	http://purl.obolibrary.org/obo/HP_0001790		Hydrops fetalis, non-immune|Hydrops fetalis, nonimmune|Non-immune fetal hydrops|Nonimmune hydrops
OBO:HP_0001791	Fetal ascites	biolink:OntologyClass	hp	SNOMEDCT_US:363125002|UMLS:C1285291	Accumulation of fluid in the peritoneal cavity during the fetal period.	http://purl.obolibrary.org/obo/HP_0001791		Foetal ascites
OBO:HP_0001792	Small nail	biolink:OntologyClass	hp	SNOMEDCT_US:11375002|UMLS:C0263523	A nail that is diminished in length and width, i.e., underdeveloped nail.	http://purl.obolibrary.org/obo/HP_0001792		Small nail|Small nails|Hypoplastic nail|Hypoplastic nails|Nail hypoplasia
OBO:HP_0001795	Hyperconvex nail	biolink:OntologyClass	hp	SNOMEDCT_US:247487009|UMLS:C0423807	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.	http://purl.obolibrary.org/obo/HP_0001795	hposlim_core	Increased nail curvature|Nail overcurvature
OBO:HP_0001798	Anonychia	biolink:OntologyClass	hp	MSH:C536377|SNOMEDCT_US:23610003|UMLS:C0265998	Aplasia of the nail.	http://purl.obolibrary.org/obo/HP_0001798	hposlim_core	Absent nails|Aplastic nails
OBO:HP_0001799	Short nail	biolink:OntologyClass	hp	SNOMEDCT_US:247488004|UMLS:C0423808	Decreased length of nail.	http://purl.obolibrary.org/obo/HP_0001799	hposlim_core	Short nail|Short nails
OBO:HP_0001800	Hypoplastic toenails	biolink:OntologyClass	hp	UMLS:C1837279	Underdevelopment of the toenail.	http://purl.obolibrary.org/obo/HP_0001800		Underdeveloped toenails
OBO:HP_0001802	Absent toenail	biolink:OntologyClass	hp	UMLS:C1844555	Congenital absence of the toenail.	http://purl.obolibrary.org/obo/HP_0001802	hposlim_core	Absent toenail|Absent toenails|Absent toenails (anonychia)|Anonychia of toenails
OBO:HP_0001803	Nail pits	biolink:OntologyClass	hp	MEDDRA:10028702|SNOMEDCT_US:89704006|UMLS:C0150993	Small (typically about 1 mm or less in size) depressions on the dorsal nail surface.	http://purl.obolibrary.org/obo/HP_0001803	secondary_consequence	Nail pits|Nail pitting|Pitted nails
OBO:HP_0001804	Hypoplastic fingernail	biolink:OntologyClass	hp	UMLS:C1856786	Underdevelopment of a fingernail.	http://purl.obolibrary.org/obo/HP_0001804		Small fingernail|Underdeveloped fingernail
OBO:HP_0001805	Onychogryposis	biolink:OntologyClass	hp	SNOMEDCT_US:52897009|UMLS:C0263537	Nail that appears thick when viewed on end.	http://purl.obolibrary.org/obo/HP_0001805		Thick nail|Thickened nails|Dystrophic thickened nails
OBO:HP_0001806	Onycholysis	biolink:OntologyClass	hp	MEDDRA:10030337|MSH:D054039|SNOMEDCT_US:75789001|UMLS:C0085661	Detachment of the nail from the nail bed.	http://purl.obolibrary.org/obo/HP_0001806	hposlim_core	Detachment of nail|Oncholysis
OBO:HP_0001807	Ridged nail	biolink:OntologyClass	hp	SNOMEDCT_US:271768001|UMLS:C0423820	Longitudinal, linear prominences in the nail plate.	http://purl.obolibrary.org/obo/HP_0001807	hposlim_core	Grooved nails|Nail ridging|Ridged nails|Longitudinal ridging
OBO:HP_0001808	Fragile nails	biolink:OntologyClass	hp	UMLS:C1856963	Nails that easily break.	http://purl.obolibrary.org/obo/HP_0001808		Brittle nails
OBO:HP_0001809	Split nail	biolink:OntologyClass	hp	SNOMEDCT_US:85136002|UMLS:C0263530	A nail plate that has a longitudinal separation and the two sections of the nail share the same lateral radius of curvature.	http://purl.obolibrary.org/obo/HP_0001809		Longitudinal splitting of nail
OBO:HP_0001810	Dystrophic toenail	biolink:OntologyClass	hp	UMLS:C1833225	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.	http://purl.obolibrary.org/obo/HP_0001810		Poor toenail formation|Dystrophic toenail changes|Dystrophic toenails
OBO:HP_0001812	Hyperconvex fingernails	biolink:OntologyClass	hp	UMLS:C1844825	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.	http://purl.obolibrary.org/obo/HP_0001812		Tubular fingernails
OBO:HP_0001814	Deep-set nails	biolink:OntologyClass	hp	UMLS:C3277753	Deeply placed nails.	http://purl.obolibrary.org/obo/HP_0001814		Deep-set nails
OBO:HP_0001816	Thin nail	biolink:OntologyClass	hp	SNOMEDCT_US:63829008|UMLS:C0423823	Nail that appears thin when viewed on end.	http://purl.obolibrary.org/obo/HP_0001816	hposlim_core	Thin nail|Thin nails
OBO:HP_0001817	Absent fingernail	biolink:OntologyClass	hp	UMLS:C1844554	Absence of a fingernail.	http://purl.obolibrary.org/obo/HP_0001817	hposlim_core	Absent fingernail|Aplasia of the fingernail|Anonychia of fingernails
OBO:HP_0001818	Paronychia	biolink:OntologyClass	hp	MEDDRA:10034016|MSH:D010304|SNOMEDCT_US:71906005|UMLS:C0030578	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).	http://purl.obolibrary.org/obo/HP_0001818	hposlim_core	
OBO:HP_0001820	Leukonychia	biolink:OntologyClass	hp	MEDDRA:10050658|SNOMEDCT_US:111202002|UMLS:C0240182	White discoloration of the nails.	http://purl.obolibrary.org/obo/HP_0001820		White discoloration of nails
OBO:HP_0001821	Broad nail	biolink:OntologyClass	hp	UMLS:C1843112	Increased width of nail.	http://purl.obolibrary.org/obo/HP_0001821		Broad fingernails|Broad nail|Wide fingernails
OBO:HP_0001822	Hallux valgus	biolink:OntologyClass	hp	MSH:D000071378|MSH:D006215|SNOMEDCT_US:122480009|SNOMEDCT_US:415692008|UMLS:C0006386|UMLS:C0018536	Lateral deviation of the great toe (i.e., in the direction of the little toe).	http://purl.obolibrary.org/obo/HP_0001822		Bunion|Lateral deviation of great toe|Lateral deviation of halluces
OBO:HP_0001824	Weight loss	biolink:OntologyClass	hp	MSH:D015431|SNOMEDCT_US:161832001|SNOMEDCT_US:262285001|SNOMEDCT_US:89362005|UMLS:C1262477	Reduction inexisting body weight.	http://purl.obolibrary.org/obo/HP_0001824		
OBO:HP_0001827	Genital tract atresia	biolink:OntologyClass	hp	UMLS:C4025746	Congenital occlusion of a tube in the genital tract.	http://purl.obolibrary.org/obo/HP_0001827		
OBO:HP_0001829	Foot polydactyly	biolink:OntologyClass	hp	SNOMEDCT_US:62218008|UMLS:C0158734	A kind of polydactyly characterized by the presence of a supernumerary toe or toes.	http://purl.obolibrary.org/obo/HP_0001829	hposlim_core	Duplication of bones of the toes|Polydactyly of feet|Polydactyly of the foot
OBO:HP_0001830	Postaxial foot polydactyly	biolink:OntologyClass	hp	UMLS:C2112129|UMLS:C4020865	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.	http://purl.obolibrary.org/obo/HP_0001830		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
OBO:HP_0001831	Short toe	biolink:OntologyClass	hp	UMLS:C1836195	A toe that appears disproportionately short compared to the foot.	http://purl.obolibrary.org/obo/HP_0001831	hposlim_core	Short toe|Short toes|Stubby toes|Brachydactyly of the foot|Hypoplasia of the toe|Hypoplastic toes|Short foot phalanges
OBO:HP_0001832	Abnormal metatarsal morphology	biolink:OntologyClass	hp	UMLS:C4025745	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).	http://purl.obolibrary.org/obo/HP_0001832		Abnormality of the long bone of foot
OBO:HP_0001833	Long foot	biolink:OntologyClass	hp	SNOMEDCT_US:299462005|UMLS:C0576225	Increased back to front length of the foot.	http://purl.obolibrary.org/obo/HP_0001833	hposlim_core	Disproportionately large feet|Long foot|large feet|long feet
OBO:HP_0001836	Camptodactyly of toe	biolink:OntologyClass	hp	UMLS:C4021774	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.	http://purl.obolibrary.org/obo/HP_0001836		Camptodactyly of feet
OBO:HP_0001837	Broad toe	biolink:OntologyClass	hp	UMLS:C1865038	Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension.	http://purl.obolibrary.org/obo/HP_0001837	hposlim_core	Broad toe|Wide toe
OBO:HP_0001838	Rocker bottom foot	biolink:OntologyClass	hp	MEDDRA:10066242|MSH:C536345|MSH:D005413|SNOMEDCT_US:205082007|SNOMEDCT_US:205359003|UMLS:C0240912	The presence of both a prominent heel and a convex contour of the sole.	http://purl.obolibrary.org/obo/HP_0001838	hposlim_core	Rocker bottom feet|Rocker bottom foot|Rocker-bottom feet|Rockerbottom feet|Congenital vertical talus
OBO:HP_0001839	Split foot	biolink:OntologyClass	hp	SNOMEDCT_US:205358006|UMLS:C0432028	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.	http://purl.obolibrary.org/obo/HP_0001839	hposlim_core	Lobster-claw foot deformity|Split foot|Split-foot|Foot ectrodactyly
OBO:HP_0001840	Metatarsus adductus	biolink:OntologyClass	hp	MSH:D000070592|SNOMEDCT_US:77599005|UMLS:C0231791|UMLS:C4082169	The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body.	http://purl.obolibrary.org/obo/HP_0001840	hposlim_core	Front half of foot turns inward|Forefoot varus|Metatarsus adductovarsus|Metatarsus varus|Intoe
OBO:HP_0001841	Preaxial foot polydactyly	biolink:OntologyClass	hp	MSH:C566632|UMLS:C1866339|UMLS:C2112942	Duplication of all or part of the first ray.	http://purl.obolibrary.org/obo/HP_0001841		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
OBO:HP_0001842	Foot acroosteolysis	biolink:OntologyClass	hp	UMLS:C4025744		http://purl.obolibrary.org/obo/HP_0001842		Acroosteolysis of feet
OBO:HP_0001844	Abnormality of the hallux	biolink:OntologyClass	hp	UMLS:C4021773	This term applies for all abnormalities of the big toe, also called hallux.	http://purl.obolibrary.org/obo/HP_0001844	hposlim_core	Abnormality of the big toe|Abnormalities of the hallux
OBO:HP_0001845	Overlapping toe	biolink:OntologyClass	hp	SNOMEDCT_US:203541003|UMLS:C0920299	Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest.	http://purl.obolibrary.org/obo/HP_0001845	hposlim_core	Overlapping toe|Overlapping toes|Overriding toes|Crossover toe
OBO:HP_0001847	Long hallux	biolink:OntologyClass	hp	UMLS:C1864375	Increased length of the big toe.	http://purl.obolibrary.org/obo/HP_0001847	hposlim_core	Long big toe|Increased length of the hallux|Large halluces|Long halluces
OBO:HP_0001848	Calcaneovalgus deformity	biolink:OntologyClass	hp	UMLS:C1860450	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).	http://purl.obolibrary.org/obo/HP_0001848		Foot and ankle bend up toward shin of leg|Calcaneovalgus|Calcaneovalgus Foot|Valgus position of the calcaneus
OBO:HP_0001849	Foot oligodactyly	biolink:OntologyClass	hp	SNOMEDCT_US:249820005|UMLS:C0426934	A developmental defect resulting in the presence of fewer than the normal number of toes.	http://purl.obolibrary.org/obo/HP_0001849	hposlim_core	Missing toes|Oligodactyly of feet
OBO:HP_0001850	Abnormality of the tarsal bones	biolink:OntologyClass	hp	UMLS:C1862136	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.	http://purl.obolibrary.org/obo/HP_0001850		Abnormal ankle bones|Abnormal tarsals
OBO:HP_0001852	Sandal gap	biolink:OntologyClass	hp	UMLS:C1840069	A widely spaced gap between the first toe (the great toe) and the second toe.	http://purl.obolibrary.org/obo/HP_0001852	hposlim_core	Gap between 1st and 2nd toes|Gap between first and second toe|Increased space between first and second toes|Sandal gap between first and second toes|Wide space between 1st, 2nd toes|Wide space between first and second toes|Wide-spaced big toe|Widely spaced 1st-2nd toes|Widely spaced first and second toes|Widened gap 1st-2nd toes|Widened gap first and second toe|Space between great toe and second toe
OBO:HP_0001853	Bifid distal phalanx of toe	biolink:OntologyClass	hp	UMLS:C4021772		http://purl.obolibrary.org/obo/HP_0001853		Notched outermost bones of toes|Bifid distal phalanges of toes|Bifid terminal phalanx of toe
OBO:HP_0001854	Podagra	biolink:OntologyClass	hp	SNOMEDCT_US:67148009|UMLS:C0221168	Gout affecting the Metatarsophalangeal joint of big toe.	http://purl.obolibrary.org/obo/HP_0001854		Gout of big toe
OBO:HP_0001857	Short distal phalanx of toe	biolink:OntologyClass	hp	UMLS:C4021771	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.	http://purl.obolibrary.org/obo/HP_0001857		Short outermost bone of toe|Hypoplastic distal phalanges of feet
OBO:HP_0001859	Distal foot symphalangism	biolink:OntologyClass	hp	UMLS:C4025743		http://purl.obolibrary.org/obo/HP_0001859		
OBO:HP_0001862	obsolete Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet)	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0001862		
OBO:HP_0001863	Toe clinodactyly	biolink:OntologyClass	hp	UMLS:C4021770|UMLS:C4280587	Bending or curvature of a toe in the tibial direction (i.e., towards the big toe).	http://purl.obolibrary.org/obo/HP_0001863		Toe curvature|Clinodactyly of feet
OBO:HP_0001864	Clinodactyly of the 5th toe	biolink:OntologyClass	hp	UMLS:C4025741|UMLS:C4280586	Bending or curvature of a fifth toe in the tibial direction (i.e., towards the big toe).	http://purl.obolibrary.org/obo/HP_0001864		Curvature of the little toe|Curvature of the pinkie toe|Curvature of the pinky toe
OBO:HP_0001868	Autoamputation of foot	biolink:OntologyClass	hp	UMLS:C4025740	Spontaneous detachment of a foot from the body.	http://purl.obolibrary.org/obo/HP_0001868		
OBO:HP_0001869	Deep plantar creases	biolink:OntologyClass	hp	UMLS:C1857953	The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot.	http://purl.obolibrary.org/obo/HP_0001869		Deep wrinkles in soles of feet
OBO:HP_0001870	Acroosteolysis of distal phalanges (feet)	biolink:OntologyClass	hp	UMLS:C4025739		http://purl.obolibrary.org/obo/HP_0001870		Acroosteolysis of distal phalanges of feet
OBO:HP_0001871	Abnormality of blood and blood-forming tissues	biolink:OntologyClass	hp	MSH:D006402|SNOMEDCT_US:191124002|SNOMEDCT_US:34093004|UMLS:C0018939|UMLS:C0850715|UMLS:C4020864	An abnormality of the hematopoietic system.	http://purl.obolibrary.org/obo/HP_0001871		Abnormality of blood and blood-forming tissues|Abnormality of the hematopoietic system|Hematological abnormality|Abnormality of the haematopoietic system|Hematologic disease
OBO:HP_0001872	Abnormal thrombocyte morphology	biolink:OntologyClass	hp	MSH:D013915|SNOMEDCT_US:127566005|SNOMEDCT_US:32942005|UMLS:C0040015|UMLS:C0151854|UMLS:C4020863	An abnormality of platelets.	http://purl.obolibrary.org/obo/HP_0001872		Platelet abnormalities|Blood platelet disease|Thrombasthenia
OBO:HP_0001873	Thrombocytopenia	biolink:OntologyClass	hp	MSH:D013921|SNOMEDCT_US:302215000|SNOMEDCT_US:415116008|UMLS:C0040034|UMLS:C0392386	A reduction in the number of circulating thrombocytes.	http://purl.obolibrary.org/obo/HP_0001873		Low platelet count
OBO:HP_0001874	Abnormality of neutrophils	biolink:OntologyClass	hp	SNOMEDCT_US:250274006|UMLS:C0427515	A neutrophil abnormality.	http://purl.obolibrary.org/obo/HP_0001874		Abnormality of neutrophils|Abnormality of neutrophil|Abnormality of polymorphonuclear neutrophils
OBO:HP_0001875	Neutropenia	biolink:OntologyClass	hp	SNOMEDCT_US:165517008|UMLS:C0853697	An abnormally low number of neutrophils in the peripheral blood.	http://purl.obolibrary.org/obo/HP_0001875		Low blood neutrophil count|Low neutrophil count|Neutropoenia|Peripheral neutropenia
OBO:HP_0001876	Pancytopenia	biolink:OntologyClass	hp	MSH:D010198|SNOMEDCT_US:127034005|UMLS:C0030312	An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).	http://purl.obolibrary.org/obo/HP_0001876		Low blood cell count
OBO:HP_0001877	Abnormal erythrocyte morphology	biolink:OntologyClass	hp	SNOMEDCT_US:12222001|UMLS:C0391870|UMLS:C4020862	Any structural abnormality of erythrocytes (red-blood cells).	http://purl.obolibrary.org/obo/HP_0001877		Abnormality of erythrocytes|Abnormality of red blood cells|Abnormality of erythroid lineage cell
OBO:HP_0001878	Hemolytic anemia	biolink:OntologyClass	hp	MSH:D000743|SNOMEDCT_US:61261009|UMLS:C0002878	A type of anemia caused by premature destruction of red blood cells (hemolysis).	http://purl.obolibrary.org/obo/HP_0001878		Hemolytic anaemia|Haemolytic anaemia|Increased hemolysis
OBO:HP_0001879	Abnormal eosinophil morphology	biolink:OntologyClass	hp	UMLS:C4025738	An abnormal count or structure of eosinophils.	http://purl.obolibrary.org/obo/HP_0001879		Abnormality of eosinophils
OBO:HP_0001880	Eosinophilia	biolink:OntologyClass	hp	MSH:D004802|UMLS:C0014457	Increased count of eosinophils in the blood.	http://purl.obolibrary.org/obo/HP_0001880		High blood eosinophil count
OBO:HP_0001881	Abnormal leukocyte morphology	biolink:OntologyClass	hp	SNOMEDCT_US:134199001|SNOMEDCT_US:24827003|UMLS:C0152009	An abnormality of leukocytes.	http://purl.obolibrary.org/obo/HP_0001881		Abnormal leukocyte function|Abnormality of leukocytes
OBO:HP_0001882	Leukopenia	biolink:OntologyClass	hp	MSH:D007970|SNOMEDCT_US:84828003|UMLS:C0023530	An abnormal decreased number of leukocytes in the blood.	http://purl.obolibrary.org/obo/HP_0001882		Decreased blood leukocyte number|Low white blood cell count
OBO:HP_0001883	Talipes	biolink:OntologyClass	hp	MSH:D000070558|SNOMEDCT_US:398309008|UMLS:C1301937|UMLS:C3552713	A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus.	http://purl.obolibrary.org/obo/HP_0001883		Talipes foot deformities
OBO:HP_0001884	Talipes calcaneovalgus	biolink:OntologyClass	hp	MSH:D005413|SNOMEDCT_US:205083002|SNOMEDCT_US:31668003|UMLS:C0152237	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.	http://purl.obolibrary.org/obo/HP_0001884		Pes calcaneovarus
OBO:HP_0001885	Short 2nd toe	biolink:OntologyClass	hp	UMLS:C4021769	Underdevelopment (hypoplasia) of the second toe.	http://purl.obolibrary.org/obo/HP_0001885		Short second toe
OBO:HP_0001886	Foot osteomyelitis	biolink:OntologyClass	hp	UMLS:C4025737	An infection of bone of the foot.	http://purl.obolibrary.org/obo/HP_0001886		Foot bone infection
OBO:HP_0001888	Lymphopenia	biolink:OntologyClass	hp	MSH:D008231|SNOMEDCT_US:48813009|UMLS:C0024312	A reduced number of lymphocytes in the blood.	http://purl.obolibrary.org/obo/HP_0001888		Decreased blood lymphocyte number|Low lymphocyte number|Absolute lymphocyte count decrease|Lymphocytopenia
OBO:HP_0001889	Megaloblastic anemia	biolink:OntologyClass	hp	MSH:D000749|SNOMEDCT_US:53165003|UMLS:C0002888	Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts).	http://purl.obolibrary.org/obo/HP_0001889		Megaloblastic anaemia
OBO:HP_0001890	Autoimmune hemolytic anemia	biolink:OntologyClass	hp	MSH:D000744|SNOMEDCT_US:413603009|UMLS:C0002880	An autoimmune form of hemolytic anemia.	http://purl.obolibrary.org/obo/HP_0001890		Autoimmune hemolytic anaemia|Autoimmune haemolytic anaemia|Hemolytic anemia, autoimmune
OBO:HP_0001891	Iron deficiency anemia	biolink:OntologyClass	hp	MSH:D018798|SNOMEDCT_US:87522002|UMLS:C0162316		http://purl.obolibrary.org/obo/HP_0001891		Iron deficiency anaemia|Ferropenic|Iron-deficiency anemia
OBO:HP_0001892	Abnormal bleeding	biolink:OntologyClass	hp	SNOMEDCT_US:248250000|SNOMEDCT_US:64779008|UMLS:C1458140	An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.	http://purl.obolibrary.org/obo/HP_0001892		Bleeding tendency|Bleeding diathesis|Hemorrhagic diathesis
OBO:HP_0001894	Thrombocytosis	biolink:OntologyClass	hp	MSH:D013922|SNOMEDCT_US:415115007|SNOMEDCT_US:6631009|UMLS:C0836924|UMLS:C0857460	Increased numbers of platelets in the peripheral blood.	http://purl.obolibrary.org/obo/HP_0001894		Increased number of platelets in blood|Increased platelet count|Thrombocythaemia|Thrombocythemia
OBO:HP_0001895	Normochromic anemia	biolink:OntologyClass	hp	UMLS:C0235983		http://purl.obolibrary.org/obo/HP_0001895		Normochromic anaemia
OBO:HP_0001896	Reticulocytopenia	biolink:OntologyClass	hp	SNOMEDCT_US:124961001|UMLS:C0858867	A reduced number of reticulocytes in the peripheral blood.	http://purl.obolibrary.org/obo/HP_0001896		
OBO:HP_0001897	Normocytic anemia	biolink:OntologyClass	hp	SNOMEDCT_US:300980002|UMLS:C0085577	A kind of anemia in which the volume of the red blood cells is normal.	http://purl.obolibrary.org/obo/HP_0001897		Normocytic anaemia
OBO:HP_0001898	Increased red blood cell mass	biolink:OntologyClass	hp	UMLS:C1853288	The presence of an increased mass of red blood cells in the circulation.	http://purl.obolibrary.org/obo/HP_0001898		Increased RBC mass
OBO:HP_0001899	Increased hematocrit	biolink:OntologyClass	hp	UMLS:C0239935	An elevation above the normal ratio of the volume of red blood cells to the total volume of blood.	http://purl.obolibrary.org/obo/HP_0001899		Increased Hct
OBO:HP_0001900	Increased hemoglobin	biolink:OntologyClass	hp	SNOMEDCT_US:131141003|UMLS:C0549448		http://purl.obolibrary.org/obo/HP_0001900		Increased Hb|Increased haemoglobin
OBO:HP_0001901	Polycythemia	biolink:OntologyClass	hp	MSH:D011086|SNOMEDCT_US:109992005|SNOMEDCT_US:127062003|UMLS:C0032461|UMLS:C1527405	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.	http://purl.obolibrary.org/obo/HP_0001901		Increased red blood cells|Abnormally shaped erythrocytes|Erythrocytosis|Polyglobulia
OBO:HP_0001902	Giant platelets	biolink:OntologyClass	hp	SNOMEDCT_US:44687006|UMLS:C0333864	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).	http://purl.obolibrary.org/obo/HP_0001902		
OBO:HP_0001903	Anemia	biolink:OntologyClass	hp	MSH:D000740|SNOMEDCT_US:165397008|SNOMEDCT_US:271737000|UMLS:C0002871|UMLS:C0162119	A reduction in erythrocytes volume or hemoglobin concentration.	http://purl.obolibrary.org/obo/HP_0001903		Low number of red blood cells or hemoglobin|Anaemia|Decreased hemoglobin
OBO:HP_0001904	Neutropenia in presence of anti-neutropil antibodies	biolink:OntologyClass	hp	SNOMEDCT_US:234425008|UMLS:C0340971	A type of neutropenia that is observed in the presence of granulocyte-specific antibodies.	http://purl.obolibrary.org/obo/HP_0001904		Autoimmune neutropenia
OBO:HP_0001905	Congenital thrombocytopenia	biolink:OntologyClass	hp	UMLS:C0272278	Thrombocytopenia with congenital onset.	http://purl.obolibrary.org/obo/HP_0001905		thrombocytopenia, congenital
OBO:HP_0001907	Thromboembolism	biolink:OntologyClass	hp	MSH:D013923|MSH:D016769|SNOMEDCT_US:13713005|SNOMEDCT_US:371039008|UMLS:C0040038|UMLS:C0085307	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.	http://purl.obolibrary.org/obo/HP_0001907		Blood clot in blood vessel|Thromboembolic disease|Thromboembolic events|Embolism and thrombosis
OBO:HP_0001908	Hypoplastic anemia	biolink:OntologyClass	hp	MSH:D000741|SNOMEDCT_US:167923006|SNOMEDCT_US:41614006|UMLS:C0178416	Anemia with varying degrees of erythrocytic hypoplasia without leukopenia or thrombocytopenia.	http://purl.obolibrary.org/obo/HP_0001908		Hypoplastic anaemia
OBO:HP_0001909	Leukemia	biolink:OntologyClass	hp	MSH:D007938|MSH:D019337|SNOMEDCT_US:129154003|SNOMEDCT_US:269475001|SNOMEDCT_US:87163000|SNOMEDCT_US:93143009|UMLS:C0023418|UMLS:C0376545	A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes.	http://purl.obolibrary.org/obo/HP_0001909		Blood cancer|Leukaemia
OBO:HP_0001911	Abnormal granulocyte morphology	biolink:OntologyClass	hp	SNOMEDCT_US:250274006|UMLS:C0427515	Any structural abnormality or abnormal count of granulocytes.	http://purl.obolibrary.org/obo/HP_0001911		Abnormality of granulocytes
OBO:HP_0001912	Abnormal basophil morphology	biolink:OntologyClass	hp	UMLS:C4025736	Any structural abnormality or abnormal count of basophils.	http://purl.obolibrary.org/obo/HP_0001912		Abnormality of basophils
OBO:HP_0001913	Granulocytopenia	biolink:OntologyClass	hp	MSH:D000380|SNOMEDCT_US:17182001|SNOMEDCT_US:417672002|UMLS:C0001824	An abnormally reduced number of granulocytes in the blood.	http://purl.obolibrary.org/obo/HP_0001913		
OBO:HP_0001915	Aplastic anemia	biolink:OntologyClass	hp	MSH:D000741|SNOMEDCT_US:304132006|SNOMEDCT_US:306058006|UMLS:C0002874	Aplastic anemia is defined as pancytopenia with a hypocellular marrow.	http://purl.obolibrary.org/obo/HP_0001915		Aplastic anaemia
OBO:HP_0001917	Renal amyloidosis	biolink:OntologyClass	hp	SNOMEDCT_US:48713002|UMLS:C0268382	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).	http://purl.obolibrary.org/obo/HP_0001917		
OBO:HP_0001919	Acute kidney injury	biolink:OntologyClass	hp	MSH:D058186|SNOMEDCT_US:14350001000004108|SNOMEDCT_US:14669001|UMLS:C0022660|UMLS:C2609414	Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia).	http://purl.obolibrary.org/obo/HP_0001919		Acute kidney failure|Acute renal failure
OBO:HP_0001920	Renal artery stenosis	biolink:OntologyClass	hp	Fyler:2634|MSH:D012078|SNOMEDCT_US:282664001|SNOMEDCT_US:302233006|UMLS:C0035067	The presence of stenosis of the renal artery.	http://purl.obolibrary.org/obo/HP_0001920		Narrowing of kidney artery
OBO:HP_0001922	Vacuolated lymphocytes	biolink:OntologyClass	hp	UMLS:C1836855	The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm.	http://purl.obolibrary.org/obo/HP_0001922		Enlarged lysosomal vacuoles in lymphocytes|Vacuolated blood lymphocytes
OBO:HP_0001923	Reticulocytosis	biolink:OntologyClass	hp	MSH:D045262|SNOMEDCT_US:46049004|UMLS:C0206160	An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.	http://purl.obolibrary.org/obo/HP_0001923		Increased immature red blood cells|Increased number of immature red blood cells|Increased reticulocyte count|Increased reticulocytes|Polychromasia
OBO:HP_0001924	Sideroblastic anemia	biolink:OntologyClass	hp	MSH:D000756|SNOMEDCT_US:41841004|UMLS:C0002896	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).	http://purl.obolibrary.org/obo/HP_0001924		Sideroblastic anaemia|Hypersideremic anemia
OBO:HP_0001927	Acanthocytosis	biolink:OntologyClass	hp	SNOMEDCT_US:250249008|UMLS:C0687751	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.	http://purl.obolibrary.org/obo/HP_0001927	hposlim_core	Acanthocytes|Red cell acanthocytosis
OBO:HP_0001928	Abnormality of coagulation	biolink:OntologyClass	hp	MSH:D001778|MSH:D006474|SNOMEDCT_US:362970003|SNOMEDCT_US:64779008|UMLS:C0005779|UMLS:C0019087|UMLS:C1846821	An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot.	http://purl.obolibrary.org/obo/HP_0001928		Abnormal blood coagulation studies|Coagulation abnormalities|Coagulation abnormality|Haemorrhagic disorders|Blood coagulation disorder
OBO:HP_0001929	Reduced factor XI activity	biolink:OntologyClass	hp	MSH:D005173|SNOMEDCT_US:49762007|UMLS:C0015523	Decreased activity of coagulation factor XI. Factor XI, also known as plasma thromboplastin antecedent, is a serine proteinase that activates factor IX.	http://purl.obolibrary.org/obo/HP_0001929		Low factor XI activity|Factor XI deficiency
OBO:HP_0001930	Nonspherocytic hemolytic anemia	biolink:OntologyClass	hp	UMLS:C4025735		http://purl.obolibrary.org/obo/HP_0001930		Nonspherocytic hemolytic anaemia
OBO:HP_0001931	Hypochromic anemia	biolink:OntologyClass	hp	MSH:D000747|SNOMEDCT_US:44452003|UMLS:C0002884	A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes.	http://purl.obolibrary.org/obo/HP_0001931		Hypochromic anaemia
OBO:HP_0001933	Subcutaneous hemorrhage	biolink:OntologyClass	hp	UMLS:C0854107	This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses).	http://purl.obolibrary.org/obo/HP_0001933		Bleeding below the skin|Subcutaneous haemorrhage
OBO:HP_0001934	Persistent bleeding after trauma	biolink:OntologyClass	hp	UMLS:C1844374		http://purl.obolibrary.org/obo/HP_0001934		Excessive bleeding after minor trauma|Frequent bleeding with trauma|Prolonged bleeding after minor trauma
OBO:HP_0001935	Microcytic anemia	biolink:OntologyClass	hp	MSH:C562385|SNOMEDCT_US:234349007|UMLS:C0085576	A kind of anemia in which the volume of the red blood cells is reduced.	http://purl.obolibrary.org/obo/HP_0001935		Microcytic anaemia
OBO:HP_0001937	Microangiopathic hemolytic anemia	biolink:OntologyClass	hp	MSH:D000743|SNOMEDCT_US:51071000|UMLS:C0221021		http://purl.obolibrary.org/obo/HP_0001937		Microangiopathic hemolytic anaemia
OBO:HP_0001939	Abnormality of metabolism/homeostasis	biolink:OntologyClass	hp	UMLS:C4021768		http://purl.obolibrary.org/obo/HP_0001939		Laboratory abnormality|Metabolism abnormality
OBO:HP_0001941	Acidosis	biolink:OntologyClass	hp	MSH:D000138|SNOMEDCT_US:51387008|UMLS:C0001122	Abnormal acid accumulation or depletion of base.	http://purl.obolibrary.org/obo/HP_0001941		
OBO:HP_0001942	Metabolic acidosis	biolink:OntologyClass	hp	MSH:D000138|SNOMEDCT_US:59455009|UMLS:C0220981	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.	http://purl.obolibrary.org/obo/HP_0001942		
OBO:HP_0001943	Hypoglycemia	biolink:OntologyClass	hp	MSH:D007003|SNOMEDCT_US:237630007|SNOMEDCT_US:271327008|SNOMEDCT_US:302866003|UMLS:C0020615	A decreased concentration of glucose in the blood.	http://purl.obolibrary.org/obo/HP_0001943		Low blood sugar|Hypoglycaemia
OBO:HP_0001944	Dehydration	biolink:OntologyClass	hp	MSH:D003681|SNOMEDCT_US:34095006|UMLS:C0011175		http://purl.obolibrary.org/obo/HP_0001944		Dehydration|Exsiccosis
OBO:HP_0001945	Fever	biolink:OntologyClass	hp	MSH:D005334|SNOMEDCT_US:386661006|SNOMEDCT_US:50177009|UMLS:C0015967	Elevated body temperature due to failed thermoregulation.	http://purl.obolibrary.org/obo/HP_0001945		Fever|Hyperthermia|Pyrexia
OBO:HP_0001946	Ketosis	biolink:OntologyClass	hp	MSH:D007662|SNOMEDCT_US:213281004|SNOMEDCT_US:2538008|UMLS:C0022638|UMLS:C0235430	Presence of elevated levels of ketone bodies in the body.	http://purl.obolibrary.org/obo/HP_0001946		High levels of ketone bodies|Hyperketosis
OBO:HP_0001947	Renal tubular acidosis	biolink:OntologyClass	hp	MSH:D000141|SNOMEDCT_US:1776003|UMLS:C0001126	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.	http://purl.obolibrary.org/obo/HP_0001947		Accumulation of acid in body due to kidney problem
OBO:HP_0001948	Alkalosis	biolink:OntologyClass	hp	MSH:D000471|SNOMEDCT_US:21420006|UMLS:C0002063	Depletion of acid or accumulation base in the body fluids.	http://purl.obolibrary.org/obo/HP_0001948		
OBO:HP_0001949	Hypokalemic alkalosis	biolink:OntologyClass	hp	SNOMEDCT_US:22774003|UMLS:C0085570		http://purl.obolibrary.org/obo/HP_0001949		
OBO:HP_0001950	Respiratory alkalosis	biolink:OntologyClass	hp	MSH:D000472|SNOMEDCT_US:111378004|UMLS:C0002064	Alkalosis due to excess loss of carbon dioxide from the body.	http://purl.obolibrary.org/obo/HP_0001950		
OBO:HP_0001951	Episodic ammonia intoxication	biolink:OntologyClass	hp	UMLS:C1839541		http://purl.obolibrary.org/obo/HP_0001951		
OBO:HP_0001952	Glucose intolerance	biolink:OntologyClass	hp	UMLS:C0235401	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).	http://purl.obolibrary.org/obo/HP_0001952		Glucose intolerance|Abnormal glucose tolerance
OBO:HP_0001953	Diabetic ketoacidosis	biolink:OntologyClass	hp	MSH:D016883|SNOMEDCT_US:420422005|UMLS:C0011880	A type of diabetic metabolic abnormality with an accumulation of ketone bodies.	http://purl.obolibrary.org/obo/HP_0001953		Diabetic ketosis
OBO:HP_0001954	Recurrent fever	biolink:OntologyClass	hp	SNOMEDCT_US:77957000|UMLS:C0277799	Periodic (episodic or recurrent) bouts of fever.	http://purl.obolibrary.org/obo/HP_0001954		Episodic fever|Increased body temperature, episodic|Intermittent fever|Hyperthermia, episodic
OBO:HP_0001955	Unexplained fevers	biolink:OntologyClass	hp	UMLS:C1844662	Episodes of fever for which no infectious cause can be identified.	http://purl.obolibrary.org/obo/HP_0001955		Unexplained fevers
OBO:HP_0001956	Truncal obesity	biolink:OntologyClass	hp	MSH:D056128|SNOMEDCT_US:248311001|UMLS:C0311277	Obesity located preferentially in the trunk of the body as opposed to the extremities.	http://purl.obolibrary.org/obo/HP_0001956		Truncal obesity|Centripetal obesity
OBO:HP_0001958	Nonketotic hypoglycemia	biolink:OntologyClass	hp	UMLS:C1865292		http://purl.obolibrary.org/obo/HP_0001958		
OBO:HP_0001959	Polydipsia	biolink:OntologyClass	hp	MSH:D059606|SNOMEDCT_US:17173007|SNOMEDCT_US:267026004|UMLS:C0085602	Excessive thirst manifested by excessive fluid intake.	http://purl.obolibrary.org/obo/HP_0001959		Extreme thirst
OBO:HP_0001960	Hypokalemic metabolic alkalosis	biolink:OntologyClass	hp	UMLS:C0740898		http://purl.obolibrary.org/obo/HP_0001960		
OBO:HP_0001961	Hypoplastic heart	biolink:OntologyClass	hp	UMLS:C3151525		http://purl.obolibrary.org/obo/HP_0001961		Small heart|Underdeveloped heart
OBO:HP_0001962	Palpitations	biolink:OntologyClass	hp	SNOMEDCT_US:80313002|UMLS:C0030252	A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.	http://purl.obolibrary.org/obo/HP_0001962		Missed heart beat|Palpitations|Skipped heart beat|Heart palpitations
OBO:HP_0001963	Abnormal speech discrimination	biolink:OntologyClass	hp	UMLS:C1836752	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.	http://purl.obolibrary.org/obo/HP_0001963		Abnormal speech discrimination|Poor speech discrimination
OBO:HP_0001964	Aplasia/Hypoplasia of metatarsal bones	biolink:OntologyClass	hp	UMLS:C1860182	Absence or underdevelopment of the metatarsal bones.	http://purl.obolibrary.org/obo/HP_0001964		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
OBO:HP_0001965	Abnormal scalp morphology	biolink:OntologyClass	hp	UMLS:C4025734	Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows.	http://purl.obolibrary.org/obo/HP_0001965		Abnormality of the scalp|Anomaly of scalp
OBO:HP_0001966	Abnormal glomerular mesangium morphology	biolink:OntologyClass	hp	UMLS:C4025733	An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries.	http://purl.obolibrary.org/obo/HP_0001966		Abnormality glomerular mesangium morphology|Abnormality of the glomerular mesangium|Mesangial abnormality
OBO:HP_0001967	Diffuse mesangial sclerosis	biolink:OntologyClass	hp	MSH:C537346|SNOMEDCT_US:111406002|UMLS:C0268747	Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion.	http://purl.obolibrary.org/obo/HP_0001967		Diffuse mesangial sclerosis glomerulopathy|Mesangial sclerosis
OBO:HP_0001969	Abnormal tubulointerstitial morphology	biolink:OntologyClass	hp	MSH:D009395|SNOMEDCT_US:28689008|SNOMEDCT_US:428255004|UMLS:C0041349|UMLS:C4025732	An abnormality that involves the tubules and interstitial tissue of the kidney.	http://purl.obolibrary.org/obo/HP_0001969		Tubulointerstitial abnormality|Tubulointerstitial nephropathy
OBO:HP_0001970	Tubulointerstitial nephritis	biolink:OntologyClass	hp	MSH:D009395|SNOMEDCT_US:28689008|SNOMEDCT_US:428255004|UMLS:C0041349	A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.	http://purl.obolibrary.org/obo/HP_0001970		Interstitial nephritis|Nephritis, Tubulointerstitial
OBO:HP_0001971	Hypersplenism	biolink:OntologyClass	hp	MSH:D006971|SNOMEDCT_US:58381000|UMLS:C0020532	A malfunctioning of the spleen in which it prematurely destroys red blood cells.	http://purl.obolibrary.org/obo/HP_0001971		
OBO:HP_0001972	Macrocytic anemia	biolink:OntologyClass	hp	MSH:D000748|SNOMEDCT_US:83414005|UMLS:C0002886	A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH).	http://purl.obolibrary.org/obo/HP_0001972		Macrocytic anaemia
OBO:HP_0001973	Autoimmune thrombocytopenia	biolink:OntologyClass	hp	MSH:D016553|SNOMEDCT_US:128091003|SNOMEDCT_US:13172003|SNOMEDCT_US:234490009|SNOMEDCT_US:32273002|UMLS:C0242584|UMLS:C0398650|UMLS:C0920163	The presence of thrombocytopenia in combination with detection of antiplatelet antibodies.	http://purl.obolibrary.org/obo/HP_0001973		Idiopathic thrombocytopenia|Immune thrombocytopenia|Idiopathic thrombocytopenic purpura
OBO:HP_0001974	Leukocytosis	biolink:OntologyClass	hp	MSH:D007964|SNOMEDCT_US:111583006|UMLS:C0023518	An abnormal increase in the number of leukocytes in the blood.	http://purl.obolibrary.org/obo/HP_0001974		Elevated white blood count|High white blood count|Increased blood leukocyte number
OBO:HP_0001975	Decreased platelet glycoprotein IIb-IIIa	biolink:OntologyClass	hp	MSH:D013915|SNOMEDCT_US:32942005|UMLS:C0040015|UMLS:C4021767	Decreased cell membrane concentration of glycoprotein IIb-IIIa.	http://purl.obolibrary.org/obo/HP_0001975		Reduced level of platelet glycoprotein IIb/IIIa complex|Glanzmann thrombasthenia
OBO:HP_0001976	Reduced antithrombin III activity	biolink:OntologyClass	hp	MSH:D020152|SNOMEDCT_US:36351005|UMLS:C0272375	An abnormality of coagulation related to a decreased concentration of antithrombin-III.	http://purl.obolibrary.org/obo/HP_0001976		Anti-thrombin III deficiency|Antithrombin III deficiency|Decreased antithrombin III
OBO:HP_0001977	Abnormal thrombosis	biolink:OntologyClass	hp	UMLS:C4025731	Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis).	http://purl.obolibrary.org/obo/HP_0001977		Abnormal blood clot|Abnormal blood clotting
OBO:HP_0001978	Extramedullary hematopoiesis	biolink:OntologyClass	hp	SNOMEDCT_US:124958002|SNOMEDCT_US:42952007|UMLS:C1292120|UMLS:C2613439	The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms.	http://purl.obolibrary.org/obo/HP_0001978		Extramedullary erythropoiesis
OBO:HP_0001980	Megaloblastic bone marrow	biolink:OntologyClass	hp	SNOMEDCT_US:167921008|UMLS:C0238801	Abnormal increased number of megaloblasts in the bone marrow.	http://purl.obolibrary.org/obo/HP_0001980		
OBO:HP_0001981	Schistocytosis	biolink:OntologyClass	hp	SNOMEDCT_US:385472000|UMLS:C0344386	The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood.	http://purl.obolibrary.org/obo/HP_0001981		Schistocytes
OBO:HP_0001982	Sea-blue histiocytosis	biolink:OntologyClass	hp	MSH:D012618|SNOMEDCT_US:37821003|UMLS:C0036489	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.	http://purl.obolibrary.org/obo/HP_0001982		'Sea blue' histiocytes|Sea-blue histiocyte
OBO:HP_0001983	Reduced lymphocyte surface expression of CD43	biolink:OntologyClass	hp	UMLS:C4021766	A reduction in the expression of CD43 on the cell surface of lymphocytes.	http://purl.obolibrary.org/obo/HP_0001983		Cd43 defectively expressed on surface of blood cells|Reduced lymphocyte surface expression of sialophorin
OBO:HP_0001984	Intolerance to protein	biolink:OntologyClass	hp	UMLS:C1396243		http://purl.obolibrary.org/obo/HP_0001984		
OBO:HP_0001985	Hypoketotic hypoglycemia	biolink:OntologyClass	hp	UMLS:C1856438	A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies.	http://purl.obolibrary.org/obo/HP_0001985		Hypoglycemia, hypoketotic
OBO:HP_0001986	Hypertonic dehydration	biolink:OntologyClass	hp	UMLS:C1112601		http://purl.obolibrary.org/obo/HP_0001986		Hyperosmolar dehydration
OBO:HP_0001987	Hyperammonemia	biolink:OntologyClass	hp	MSH:D022124|SNOMEDCT_US:9360008|UMLS:C0220994	An increased concentration of ammonia in the blood.	http://purl.obolibrary.org/obo/HP_0001987		High blood ammonia levels
OBO:HP_0001988	Recurrent hypoglycemia	biolink:OntologyClass	hp	UMLS:C1846288	Recurrent episodes of decreased concentration of glucose in the blood.	http://purl.obolibrary.org/obo/HP_0001988		Recurrent low blood sugar levels|Hypoglycemic episodes|Recurrent hypoglycaemia|Recurrent hypoglycemic episodes|hypoglycaemia, recurrent|hypoglycemia, recurrent
OBO:HP_0001989	Fetal akinesia sequence	biolink:OntologyClass	hp	MSH:C536647|SNOMEDCT_US:401138005|UMLS:C1276035|UMLS:C3151520	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).	http://purl.obolibrary.org/obo/HP_0001989	hposlim_core	Foetal akinesia sequence|Early severe fetal akinesia sequence|Fetal akinesia
OBO:HP_0001991	Aplasia/Hypoplasia of toe	biolink:OntologyClass	hp	UMLS:C3551148	Absence or hypoplasia of toes.	http://purl.obolibrary.org/obo/HP_0001991		Absent/small toe|Absent/underdeveloped toe|Aplastic/hypoplastic toe phalanges|Absent/hypoplastic toes
OBO:HP_0001992	Organic aciduria	biolink:OntologyClass	hp	UMLS:C0241775	Excretion of non-amino organic acids in urine.	http://purl.obolibrary.org/obo/HP_0001992		
OBO:HP_0001993	Ketoacidosis	biolink:OntologyClass	hp	SNOMEDCT_US:56051008|UMLS:C0220982	Acidosis resulting from accumulation of ketone bodies.	http://purl.obolibrary.org/obo/HP_0001993		
OBO:HP_0001994	Renal Fanconi syndrome	biolink:OntologyClass	hp	MSH:D005198|SNOMEDCT_US:236468006|SNOMEDCT_US:44673006|UMLS:C0341703	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.	http://purl.obolibrary.org/obo/HP_0001994		'de toni-fanconi-debre' syndrome|Renal tubular fanconi syndrome
OBO:HP_0001995	Hyperchloremic acidosis	biolink:OntologyClass	hp	SNOMEDCT_US:18104000|UMLS:C0085569	Acidosis (pH less than 7.35) that develops with an increase in ionic chloride.	http://purl.obolibrary.org/obo/HP_0001995		
OBO:HP_0001996	Chronic metabolic acidosis	biolink:OntologyClass	hp	UMLS:C0740749	Longstanding metabolic acidosis.	http://purl.obolibrary.org/obo/HP_0001996		
OBO:HP_0001997	Gout	biolink:OntologyClass	hp	MSH:D006073|MSH:D015210|SNOMEDCT_US:170733007|SNOMEDCT_US:190828008|SNOMEDCT_US:48440001|SNOMEDCT_US:90560007|UMLS:C0003868|UMLS:C0018099	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.	http://purl.obolibrary.org/obo/HP_0001997		Gouty arthritis
OBO:HP_0001998	Neonatal hypoglycemia	biolink:OntologyClass	hp	SNOMEDCT_US:52767006|UMLS:C0158986		http://purl.obolibrary.org/obo/HP_0001998		Low blood sugar in newborn
OBO:HP_0001999	Abnormal facial shape	biolink:OntologyClass	hp	SNOMEDCT_US:248200007|SNOMEDCT_US:32003007|SNOMEDCT_US:398206004|SNOMEDCT_US:398302004|UMLS:C0266617|UMLS:C0424503|UMLS:C1385263|UMLS:C4072832|UMLS:C4072833	An abnormal morphology (form) of the face or its components.	http://purl.obolibrary.org/obo/HP_0001999	hposlim_core	Deformity of face|Malformation of face|Abnormal facial shape|Unusual facial appearance|Distortion of face|Funny looking face|Abnormal morphology of the face|Distinctive facies|Dysmorphic facial features|Dysmorphic facies|Facial dysmorphism|Unusual facies
OBO:HP_0002000	Short columella	biolink:OntologyClass	hp	UMLS:C1857479|UMLS:C4280585	Reduced distance from the anterior border of the naris to the subnasale.	http://purl.obolibrary.org/obo/HP_0002000	hposlim_core	Columella, short|Decreased length of columella|Hypoplasia of columella
OBO:HP_0002002	Deep philtrum	biolink:OntologyClass	hp	UMLS:C1839797|UMLS:C4020861	Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border.	http://purl.obolibrary.org/obo/HP_0002002	hposlim_core	Increased depth of philtrum|Philtrum, deep|Prominent philtrum|Pronounced philtrum|Depressed philtrum
OBO:HP_0002003	Large forehead	biolink:OntologyClass	hp	UMLS:C1839783|UMLS:C4280583|UMLS:C4280584		http://purl.obolibrary.org/obo/HP_0002003		Increased size of forehead|Large forehead|Increased size of frontal region of face|Hyperplasia of forehead|Hypertrophy of forehead
OBO:HP_0002006	Facial cleft	biolink:OntologyClass	hp	SNOMEDCT_US:92821006|UMLS:C0685787	A congenital malformation with a cleft (gap or opening) in the face.	http://purl.obolibrary.org/obo/HP_0002006	hposlim_core	Cleft of the face|Facial cleft|Facial clefts|Tessier facial cleft
OBO:HP_0002007	Frontal bossing	biolink:OntologyClass	hp	SNOMEDCT_US:90145001|UMLS:C0221354	Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.	http://purl.obolibrary.org/obo/HP_0002007	hposlim_core	Frontal protruberance|Skull bossing
OBO:HP_0002009	Potter facies	biolink:OntologyClass	hp	SNOMEDCT_US:24814002|UMLS:C0266619	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.	http://purl.obolibrary.org/obo/HP_0002009		
OBO:HP_0002010	Narrow maxilla	biolink:OntologyClass	hp	UMLS:C1851835		http://purl.obolibrary.org/obo/HP_0002010		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
OBO:HP_0002011	Morphological central nervous system abnormality	biolink:OntologyClass	hp	MSH:D002493|SNOMEDCT_US:23853001|UMLS:C0007682|UMLS:C4021765	A structural abnormality of the central nervous system.	http://purl.obolibrary.org/obo/HP_0002011		Morphological abnormality of the CNS|Abnormality of the central nervous system|Morphological abnormality of the central nervous system|Central nervous system disease
OBO:HP_0002012	Abnormality of the abdominal organs	biolink:OntologyClass	hp	UMLS:C4021764	An abnormality of the viscera of the abdomen.	http://purl.obolibrary.org/obo/HP_0002012		Abnormality of the abdominal organs|Gastrointestinal tract defects
OBO:HP_0002013	Vomiting	biolink:OntologyClass	hp	MEDDRA:10047700|MSH:D014839|SNOMEDCT_US:249497008|SNOMEDCT_US:300359004|SNOMEDCT_US:422400008|UMLS:C0042963	Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.	http://purl.obolibrary.org/obo/HP_0002013	hposlim_core	Throwing up|Vomiting|Emesis
OBO:HP_0002014	Diarrhea	biolink:OntologyClass	hp	MSH:D003967|SNOMEDCT_US:267060006|SNOMEDCT_US:62315008|UMLS:C0011991	Abnormally increased frequency of loose or watery bowel movements.	http://purl.obolibrary.org/obo/HP_0002014		Diarrhea|Watery stool|Diarrhoea
OBO:HP_0002015	Dysphagia	biolink:OntologyClass	hp	MEDDRA:10013950|MSH:D003680|SNOMEDCT_US:288939007|SNOMEDCT_US:40739000|UMLS:C0011168	Difficulty in swallowing.	http://purl.obolibrary.org/obo/HP_0002015	hposlim_core	Poor swallowing|Swallowing difficulties|Swallowing difficulty|Difficulty swallowing|Deglutition disorder
OBO:HP_0002017	Nausea and vomiting	biolink:OntologyClass	hp	SNOMEDCT_US:16932000|UMLS:C0027498	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.	http://purl.obolibrary.org/obo/HP_0002017		Nausea and vomiting
OBO:HP_0002018	Nausea	biolink:OntologyClass	hp	MEDDRA:10028813|MSH:D009325|SNOMEDCT_US:422587007|UMLS:C0027497	A sensation of unease in the stomach together with an urge to vomit.	http://purl.obolibrary.org/obo/HP_0002018	hposlim_core	Nausea
OBO:HP_0002019	Constipation	biolink:OntologyClass	hp	MSH:D003248|SNOMEDCT_US:14760008|SNOMEDCT_US:225595004|UMLS:C0009806|UMLS:C0237326	Infrequent or difficult evacuation of feces.	http://purl.obolibrary.org/obo/HP_0002019		Constipation|Costiveness|Dyschezia
OBO:HP_0002020	Gastroesophageal reflux	biolink:OntologyClass	hp	MSH:D005764|MSH:D006356|SNOMEDCT_US:16331000|SNOMEDCT_US:235595009|SNOMEDCT_US:698065002|UMLS:C0017168|UMLS:C0018834	A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.	http://purl.obolibrary.org/obo/HP_0002020	hposlim_core	GERD|Acid reflux|Acid reflux disease|Heartburn|Gastro-oesophageal reflux|Gastroesophageal reflux disease
OBO:HP_0002021	Pyloric stenosis	biolink:OntologyClass	hp	Fyler:4444|MEDDRA:10037621|MSH:D011707|SNOMEDCT_US:367403001|UMLS:C0034194	An abnormal narrowing of the pylorus.	http://purl.obolibrary.org/obo/HP_0002021	hposlim_core	
OBO:HP_0002023	Anal atresia	biolink:OntologyClass	hp	Fyler:4402|Fyler:4443|MEDDRA:10002120|MSH:D001006|SNOMEDCT_US:204712000|SNOMEDCT_US:204731006|UMLS:C0003466	Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.	http://purl.obolibrary.org/obo/HP_0002023	hposlim_core	Absent anus|Imperforate anus
OBO:HP_0002024	Malabsorption	biolink:OntologyClass	hp	UMLS:C3714745	Impaired ability to absorb one or more nutrients from the intestine.	http://purl.obolibrary.org/obo/HP_0002024		Intestinal malabsorption|Malabsorption
OBO:HP_0002025	Anal stenosis	biolink:OntologyClass	hp	MEDDRA:10002176|SNOMEDCT_US:250037002|SNOMEDCT_US:69914001|UMLS:C0262374	Abnormal narrowing of the anal opening.	http://purl.obolibrary.org/obo/HP_0002025	hposlim_core	Narrowing of anal opening
OBO:HP_0002027	Abdominal pain	biolink:OntologyClass	hp	MEDDRA:10000081|MSH:D015746|SNOMEDCT_US:21522001|UMLS:C0000737	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.	http://purl.obolibrary.org/obo/HP_0002027	hposlim_core	Gastro pain|Gastrointestinal pain|Abdominal pain|Pain in stomach|Stomach pain|Abdominal discomfort|Upset stomach
OBO:HP_0002028	Chronic diarrhea	biolink:OntologyClass	hp	SNOMEDCT_US:236071009|UMLS:C0401151	The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.	http://purl.obolibrary.org/obo/HP_0002028		Chronic diarrhea|Chronic diarrhoea|Diarrhea, recurrent|Recurrent diarrhea
OBO:HP_0002031	Abnormal esophagus morphology	biolink:OntologyClass	hp	SNOMEDCT_US:69771008|UMLS:C0266126	A structural abnormality of the esophagus.	http://purl.obolibrary.org/obo/HP_0002031		Abnormality of esophagus structure|Abnormal oesophagus morphology|Anomaly of the esophagus
OBO:HP_0002032	Esophageal atresia	biolink:OntologyClass	hp	Fyler:4412|MSH:D004933|SNOMEDCT_US:26179002|UMLS:C0014850	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.	http://purl.obolibrary.org/obo/HP_0002032		Birth defect in which part of esophagus did not develop
OBO:HP_0002033	Poor suck	biolink:OntologyClass	hp	UMLS:C1837142	An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed.	http://purl.obolibrary.org/obo/HP_0002033		Poor suck|Poor sucking|Sucking weakness
OBO:HP_0002034	Abnormal rectum morphology	biolink:OntologyClass	hp	SNOMEDCT_US:86993003|UMLS:C0266210	An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus.	http://purl.obolibrary.org/obo/HP_0002034		Abnormality of the rectum|Anomaly of the rectum
OBO:HP_0002035	Rectal prolapse	biolink:OntologyClass	hp	MEDDRA:10038077|MSH:D012005|SNOMEDCT_US:57773001|UMLS:C0034888	Protrusion of the rectal mucous membrane through the anus.	http://purl.obolibrary.org/obo/HP_0002035	hposlim_core	Rectum protrudes through anus|Rectal prolapsed
OBO:HP_0002036	Hiatus hernia	biolink:OntologyClass	hp	MEDDRA:10020028|MSH:D006551|SNOMEDCT_US:84089009|UMLS:C3489393	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.	http://purl.obolibrary.org/obo/HP_0002036	hposlim_core	Stomach hernia|Hiatal hernia
OBO:HP_0002037	Inflammation of the large intestine	biolink:OntologyClass	hp	MSH:D015212|SNOMEDCT_US:24526004|SNOMEDCT_US:302168000|UMLS:C0021390|UMLS:C0578878	Inflammation, or an inflammatory state in the large intestine.	http://purl.obolibrary.org/obo/HP_0002037		Inflammation of the large intestine|Inflammatory bowel disease
OBO:HP_0002038	Protein avoidance	biolink:OntologyClass	hp	UMLS:C1839531		http://purl.obolibrary.org/obo/HP_0002038		
OBO:HP_0002039	Anorexia	biolink:OntologyClass	hp	MSH:D000855|SNOMEDCT_US:79890006|UMLS:C0003123	A lack or loss of appetite for food (as a medical condition).	http://purl.obolibrary.org/obo/HP_0002039		Anorexia
OBO:HP_0002040	Esophageal varix	biolink:OntologyClass	hp	MEDDRA:10056091|MSH:D004932|SNOMEDCT_US:28670008|UMLS:C0014867	Extreme dilation of the submucusoal veins in the lower portion of the esophagus.	http://purl.obolibrary.org/obo/HP_0002040	hposlim_core	Enlarged vein in esophagus|Esophageal varices
OBO:HP_0002041	Intractable diarrhea	biolink:OntologyClass	hp	UMLS:C0743178		http://purl.obolibrary.org/obo/HP_0002041		Intractable diarrhoea
OBO:HP_0002043	Esophageal stricture	biolink:OntologyClass	hp	MSH:D004940|SNOMEDCT_US:63305008|UMLS:C0014866	A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen.	http://purl.obolibrary.org/obo/HP_0002043		Narrowing of esophagus due to inflammation and scar tissue
OBO:HP_0002044	Zollinger-Ellison syndrome	biolink:OntologyClass	hp	MEDDRA:10048281|MSH:D015043|SNOMEDCT_US:53132006|UMLS:C0043515	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.	http://purl.obolibrary.org/obo/HP_0002044	hposlim_core	
OBO:HP_0002045	Hypothermia	biolink:OntologyClass	hp	MSH:D007035|SNOMEDCT_US:386689009|UMLS:C0020672	Reduced body temperature due to failed thermoregulation.	http://purl.obolibrary.org/obo/HP_0002045		Abnormally low body temperature|Hypothermia
OBO:HP_0002046	Heat intolerance	biolink:OntologyClass	hp	SNOMEDCT_US:69215007|UMLS:C0231274	The inability to maintain a comfortably body temperature in warm or hot weather.	http://purl.obolibrary.org/obo/HP_0002046	hposlim_core	Heat intolerance|Intolerance to heat and fevers
OBO:HP_0002047	Malignant hyperthermia	biolink:OntologyClass	hp	MSH:D008305|SNOMEDCT_US:213026003|SNOMEDCT_US:405501007|UMLS:C0024591	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.	http://purl.obolibrary.org/obo/HP_0002047		Malignant hyperthermia with anesthesia
OBO:HP_0002048	Renal cortical atrophy	biolink:OntologyClass	hp	UMLS:C4025730	Atrophy of the cortex of the kidney.	http://purl.obolibrary.org/obo/HP_0002048		
OBO:HP_0002049	Proximal renal tubular acidosis	biolink:OntologyClass	hp	MSH:D000141|SNOMEDCT_US:24790002|UMLS:C0268435	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.	http://purl.obolibrary.org/obo/HP_0002049		Proximal tubular acidosis|Renal tubular acidosis, proximal|Renal tubular acidosis, type II
OBO:HP_0002050	Macroorchidism, postpubertal	biolink:OntologyClass	hp	UMLS:C1839782		http://purl.obolibrary.org/obo/HP_0002050		
OBO:HP_0002054	Heavy supraorbital ridges	biolink:OntologyClass	hp	UMLS:C1845107		http://purl.obolibrary.org/obo/HP_0002054		Heavy brow of the face|Heavy supraorbital ridge
OBO:HP_0002055	Curved linear dimple below the lower lip	biolink:OntologyClass	hp	UMLS:C1844572		http://purl.obolibrary.org/obo/HP_0002055		
OBO:HP_0002056	Abnormality of the glabella	biolink:OntologyClass	hp	UMLS:C4021763	An abnormality of the glabella.	http://purl.obolibrary.org/obo/HP_0002056		Abnormality of the area between the eyebrows|Deformity of the area between the eyebrows|Malformation of the area between the eyebrows|Glabellar abnormality
OBO:HP_0002057	Prominent glabella	biolink:OntologyClass	hp	UMLS:C1860247	Forward protrusion of the glabella.	http://purl.obolibrary.org/obo/HP_0002057	hposlim_core	Prominent area between the eyebrows|Protruding area between the eyebrows|Convex glabella|Hyperplasia of glabella
OBO:HP_0002058	Myopathic facies	biolink:OntologyClass	hp	SNOMEDCT_US:26432009|UMLS:C0332615	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.	http://purl.obolibrary.org/obo/HP_0002058		Myopathic face|Myopathic facial appearance
OBO:HP_0002059	Cerebral atrophy	biolink:OntologyClass	hp	SNOMEDCT_US:278849000|SNOMEDCT_US:418143002|SNOMEDCT_US:52522001|UMLS:C0154671|UMLS:C0235946|UMLS:C4020860	Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.	http://purl.obolibrary.org/obo/HP_0002059		Degeneration of cerebrum|Supratentorial atrophy
OBO:HP_0002060	Abnormal cerebral morphology	biolink:OntologyClass	hp	UMLS:C4021762	Any structural abnormality of the telencephalon, which is also known as the cerebrum.	http://purl.obolibrary.org/obo/HP_0002060		Abnormality of the cerebrum|Abnormality of the telencephalon
OBO:HP_0002061	Lower limb spasticity	biolink:OntologyClass	hp	SNOMEDCT_US:394679006|UMLS:C1271100	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	http://purl.obolibrary.org/obo/HP_0002061		
OBO:HP_0002062	Morphological abnormality of the pyramidal tract	biolink:OntologyClass	hp	UMLS:C4020859|UMLS:C4021761	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.	http://purl.obolibrary.org/obo/HP_0002062		Abnormality of the pyramidal tracts|Pyramidal tract disease
OBO:HP_0002063	Rigidity	biolink:OntologyClass	hp	MSH:D009127|SNOMEDCT_US:16046003|UMLS:C0026837	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.	http://purl.obolibrary.org/obo/HP_0002063		Muscle rigidity|Rigidity
OBO:HP_0002064	Spastic gait	biolink:OntologyClass	hp	MSH:D020233|SNOMEDCT_US:9447003|UMLS:C0231687	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.	http://purl.obolibrary.org/obo/HP_0002064		Spastic walk
OBO:HP_0002066	Gait ataxia	biolink:OntologyClass	hp	MSH:D020234|SNOMEDCT_US:25136009|UMLS:C0751837	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.	http://purl.obolibrary.org/obo/HP_0002066		Inability to coordinate movements when walking|Ataxia of gait|Ataxic gait
OBO:HP_0002067	Bradykinesia	biolink:OntologyClass	hp	MSH:D018476|SNOMEDCT_US:399317006|UMLS:C0233565	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).	http://purl.obolibrary.org/obo/HP_0002067		Slow movements|Slowness of movements
OBO:HP_0002068	Neuromuscular dysphagia	biolink:OntologyClass	hp	UMLS:C4025729		http://purl.obolibrary.org/obo/HP_0002068		
OBO:HP_0002069	Bilateral tonic-clonic seizure	biolink:OntologyClass	hp	MSH:D012640|SNOMEDCT_US:54200006|UMLS:C0494475	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.	http://purl.obolibrary.org/obo/HP_0002069		Grand mal seizures|Tonic-clonic convulsions|Bilateral convulsive seizures|Generalised tonic-clonic seizure (without specification of onset)|Generalized convulsion|Generalized tonic-clonic seizure (without specification of onset)|Grand mal|Seizures, tonic-clonic|Tonic-clonic convulsion
OBO:HP_0002070	Limb ataxia	biolink:OntologyClass	hp	MSH:D001259|UMLS:C0750937	A kind of ataxia that affects movements of the extremities.	http://purl.obolibrary.org/obo/HP_0002070		Appendicular ataxia
OBO:HP_0002071	Abnormality of extrapyramidal motor function	biolink:OntologyClass	hp	MSH:D001480|SNOMEDCT_US:43378000|SNOMEDCT_US:76349003|UMLS:C0015371|UMLS:C0234133	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).	http://purl.obolibrary.org/obo/HP_0002071		Extrapyramidal dysfunction|Extrapyramidal signs|Extrapyramidal symptoms|Extrapyramidal syndrome|Extrapyramidal tract signs
OBO:HP_0002072	Chorea	biolink:OntologyClass	hp	MSH:D002819|SNOMEDCT_US:271700006|UMLS:C0008489|UMLS:C4020858	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.	http://purl.obolibrary.org/obo/HP_0002072		Choreic movements|Choreiform movements|Choreatic disease
OBO:HP_0002073	Progressive cerebellar ataxia	biolink:OntologyClass	hp	SNOMEDCT_US:230233000|UMLS:C0393525		http://purl.obolibrary.org/obo/HP_0002073		Cerebellar ataxia, progressive|Progressive ataxia
OBO:HP_0002074	Increased neuronal autofluorescent lipopigment	biolink:OntologyClass	hp	UMLS:C4020857|UMLS:C4025728	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.	http://purl.obolibrary.org/obo/HP_0002074		Neuronal lipopigments
OBO:HP_0002075	Dysdiadochokinesis	biolink:OntologyClass	hp	SNOMEDCT_US:23133003|UMLS:C0234979	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.	http://purl.obolibrary.org/obo/HP_0002075		Difficulty performing quick and alternating movements|Dysdiadochokinesia
OBO:HP_0002076	Migraine	biolink:OntologyClass	hp	MSH:D008881|SNOMEDCT_US:37796009|UMLS:C0149931|UMLS:C0744641	Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.	http://purl.obolibrary.org/obo/HP_0002076		Intermittent migraine headaches|Migraine|Migraine headache|Migraine headaches
OBO:HP_0002077	Migraine with aura	biolink:OntologyClass	hp	MSH:D020325|SNOMEDCT_US:4473006|UMLS:C0154723	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.	http://purl.obolibrary.org/obo/HP_0002077		
OBO:HP_0002078	Truncal ataxia	biolink:OntologyClass	hp	MSH:D001259|SNOMEDCT_US:250067008|UMLS:C0427190	Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting.	http://purl.obolibrary.org/obo/HP_0002078		Instability or lack of coordination of central trunk muscles|Trunk ataxia
OBO:HP_0002079	Hypoplasia of the corpus callosum	biolink:OntologyClass	hp	SNOMEDCT_US:204043002|UMLS:C0344482	Underdevelopment of the corpus callosum.	http://purl.obolibrary.org/obo/HP_0002079		Underdevelopment of part of brain called corpus callosum|Corpus callosum hypoplasia|Hypoplasia of corpus callosum|Hypoplastic corpus callosum|Small corpus callosum|Thin corpus callosum|Thinning of the corpus callosum
OBO:HP_0002080	Intention tremor	biolink:OntologyClass	hp	MSH:D014202|SNOMEDCT_US:30721006|UMLS:C0234376|UMLS:C4020856	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).	http://purl.obolibrary.org/obo/HP_0002080		Cerebellar tremor|Terminal tremor
OBO:HP_0002083	Migraine without aura	biolink:OntologyClass	hp	MSH:D020326|SNOMEDCT_US:56097005|UMLS:C0338480	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.	http://purl.obolibrary.org/obo/HP_0002083		
OBO:HP_0002084	Encephalocele	biolink:OntologyClass	hp	MSH:D004677|SNOMEDCT_US:253101008|SNOMEDCT_US:48777005|SNOMEDCT_US:55999004|UMLS:C0014065	A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull.	http://purl.obolibrary.org/obo/HP_0002084		Bifid skull|Cranium bifidum
OBO:HP_0002085	Occipital encephalocele	biolink:OntologyClass	hp	MSH:D004677|SNOMEDCT_US:42376006|UMLS:C0014067	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.	http://purl.obolibrary.org/obo/HP_0002085		Brain tissue sticks out through back of skull|Occipital meningoencephalocele|Posterior encephalocele
OBO:HP_0002086	Abnormality of the respiratory system	biolink:OntologyClass	hp	UMLS:C4018871	An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles.	http://purl.obolibrary.org/obo/HP_0002086		Respiratory abnormality
OBO:HP_0002087	Abnormality of the upper respiratory tract	biolink:OntologyClass	hp	UMLS:C4025727	An abnormality of the upper respiratory tract.	http://purl.obolibrary.org/obo/HP_0002087		Abnormality of the upper respiratory tract|Upper respiratory tract issues
OBO:HP_0002088	Abnormal lung morphology	biolink:OntologyClass	hp	MSH:D008171|SNOMEDCT_US:19829001|UMLS:C0024115|UMLS:C4021760	Any structural anomaly of the lung.	http://purl.obolibrary.org/obo/HP_0002088		Abnormality of lung structure|Abnormality of the lungs|Abnormally shaped lung|Unusal lung shape|Lung disease
OBO:HP_0002089	Pulmonary hypoplasia	biolink:OntologyClass	hp	SNOMEDCT_US:80825009|UMLS:C0265783		http://purl.obolibrary.org/obo/HP_0002089		Poorly developed lungs|Small lung|Underdeveloped lung|Hypoplastic lung|Hypoplastic lungs|Lung hypoplasia
OBO:HP_0002090	Pneumonia	biolink:OntologyClass	hp	MSH:D011014|SNOMEDCT_US:233604007|UMLS:C0032285	Inflammation of any part of the lung parenchyma.	http://purl.obolibrary.org/obo/HP_0002090		Pneumonia
OBO:HP_0002091	Restrictive ventilatory defect	biolink:OntologyClass	hp	SNOMEDCT_US:36485005|UMLS:C0085581|UMLS:C3277226	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.	http://purl.obolibrary.org/obo/HP_0002091		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
OBO:HP_0002092	Pulmonary arterial hypertension	biolink:OntologyClass	hp	MSH:D006976|MSH:D065627|SNOMEDCT_US:11399002|SNOMEDCT_US:697898008|SNOMEDCT_US:70995007|UMLS:C0020542|UMLS:C2973725|UMLS:C3203102	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.	http://purl.obolibrary.org/obo/HP_0002092		Increased blood pressure in blood vessels of lungs|Pulmonary artery hypertension|Primary pulmonary hypertension
OBO:HP_0002093	Respiratory insufficiency	biolink:OntologyClass	hp	MSH:D012131|SNOMEDCT_US:409623005|UMLS:C0035229|UMLS:C4020855		http://purl.obolibrary.org/obo/HP_0002093		Respiratory impairment|Respiratory function loss|progressive respiratory failure
OBO:HP_0002094	Dyspnea	biolink:OntologyClass	hp	MSH:D004417|SNOMEDCT_US:230145002|SNOMEDCT_US:267036007|UMLS:C0013404	Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.	http://purl.obolibrary.org/obo/HP_0002094		Trouble breathing|Dyspnoea|Abnormal breathing|Breathing difficulty|Difficult to breathe
OBO:HP_0002097	Emphysema	biolink:OntologyClass	hp	MSH:D011656|SNOMEDCT_US:87433001|UMLS:C0034067		http://purl.obolibrary.org/obo/HP_0002097		Pulmonary emphysema
OBO:HP_0002098	Respiratory distress	biolink:OntologyClass	hp	MSH:D004417|SNOMEDCT_US:230145002|SNOMEDCT_US:267036007|SNOMEDCT_US:271825005|UMLS:C0013404|UMLS:C0476273	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.	http://purl.obolibrary.org/obo/HP_0002098		Breathing difficulties|Difficulty breathing|Short of breath|Shortness of breath|Respiratory difficulties
OBO:HP_0002099	Asthma	biolink:OntologyClass	hp	MSH:D001249|SNOMEDCT_US:195967001|SNOMEDCT_US:991000119106|UMLS:C0004096|UMLS:C3714497	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.	http://purl.obolibrary.org/obo/HP_0002099		Asthma|Bronchial asthma|Reactive airway disease
OBO:HP_0002100	Recurrent aspiration pneumonia	biolink:OntologyClass	hp	SNOMEDCT_US:430969000|UMLS:C0747651	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.	http://purl.obolibrary.org/obo/HP_0002100		
OBO:HP_0002101	Abnormal lung lobation	biolink:OntologyClass	hp	SNOMEDCT_US:91842005|UMLS:C0685695	A developmental defect in the formation of pulmonary lobes.	http://purl.obolibrary.org/obo/HP_0002101		Defective lung lobation|Lung segmentation defects
OBO:HP_0002102	Pleuritis	biolink:OntologyClass	hp	MSH:D010998|SNOMEDCT_US:196075003|UMLS:C0032231	Inflammation of the pleura.	http://purl.obolibrary.org/obo/HP_0002102		Inflammation of tissues lining lungs and chest|Pleurisy
OBO:HP_0002103	Abnormal pleura morphology	biolink:OntologyClass	hp	UMLS:C4025726	An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls.	http://purl.obolibrary.org/obo/HP_0002103		Abnormality of the pleura
OBO:HP_0002104	Apnea	biolink:OntologyClass	hp	MSH:D001049|SNOMEDCT_US:1023001|SNOMEDCT_US:248583008|UMLS:C0003578	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.	http://purl.obolibrary.org/obo/HP_0002104		Absence of spontaneous respiration|Apneic episodes|Apnoea
OBO:HP_0002105	Hemoptysis	biolink:OntologyClass	hp	MSH:D006469|SNOMEDCT_US:66857006|SNOMEDCT_US:6686005|UMLS:C0019079	Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs.	http://purl.obolibrary.org/obo/HP_0002105		Coughing up blood|Haemoptysis|Coughing up blood or blood-stained mucus
OBO:HP_0002107	Pneumothorax	biolink:OntologyClass	hp	MSH:D011030|SNOMEDCT_US:36118008|UMLS:C0032326	Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung.	http://purl.obolibrary.org/obo/HP_0002107		Collapsed lung
OBO:HP_0002108	Spontaneous pneumothorax	biolink:OntologyClass	hp	MSH:D011030|SNOMEDCT_US:80423007|UMLS:C0149781	Pneumothorax occurring without traumatic injury to the chest or lung.	http://purl.obolibrary.org/obo/HP_0002108		Spontaneous collapsed lung
OBO:HP_0002109	obsolete Abnormality of the bronchi	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0002109		
OBO:HP_0002110	Bronchiectasis	biolink:OntologyClass	hp	MSH:D001987|SNOMEDCT_US:12295008|UMLS:C0006267	Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.	http://purl.obolibrary.org/obo/HP_0002110		Permanent enlargement of the airways of the lungs
OBO:HP_0002111	obsolete Restrictive deficit on pulmonary function testing	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0002111		
OBO:HP_0002113	Pulmonary infiltrates	biolink:OntologyClass	hp	UMLS:C0235896		http://purl.obolibrary.org/obo/HP_0002113		Lung infiltrates|Pulmonic infiltration
OBO:HP_0002118	Abnormality of the cerebral ventricles	biolink:OntologyClass	hp	UMLS:C4025724	Abnormality of the cerebral ventricles.	http://purl.obolibrary.org/obo/HP_0002118		
OBO:HP_0002119	Ventriculomegaly	biolink:OntologyClass	hp	UMLS:C3278923	An increase in size of the ventricular system of the brain.	http://purl.obolibrary.org/obo/HP_0002119		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
OBO:HP_0002120	Cerebral cortical atrophy	biolink:OntologyClass	hp	SNOMEDCT_US:278849000|UMLS:C0235946	Atrophy of the cortex of the cerebrum.	http://purl.obolibrary.org/obo/HP_0002120		Decrease in size of the outer layer of the brain due to loss of brain cells|Cerebral cortex atrophy|Cortical atrophy
OBO:HP_0002121	Generalized non-motor (absence) seizure	biolink:OntologyClass	hp	MSH:D004832|SNOMEDCT_US:230413002|SNOMEDCT_US:432241000124101|SNOMEDCT_US:50866000|SNOMEDCT_US:79631006|UMLS:C0014553	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.	http://purl.obolibrary.org/obo/HP_0002121		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
OBO:HP_0002123	Generalized myoclonic seizure	biolink:OntologyClass	hp	MSH:D004831|MSH:D020191|SNOMEDCT_US:192992007|SNOMEDCT_US:267581004|SNOMEDCT_US:37356005|UMLS:C0014550|UMLS:C0751778|UMLS:C4021759	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.	http://purl.obolibrary.org/obo/HP_0002123		Generalized myoclonic seizures|Generalised myoclonic seizures|Generalised epileptic myoclonus|Generalised myoclonic seizure|Generalized epileptic myoclonus|Myoclonus seizures|Myoclonic epilepsy, progressive
OBO:HP_0002126	Polymicrogyria	biolink:OntologyClass	hp	MSH:D065706|SNOMEDCT_US:4945003|UMLS:C0266464	Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds).	http://purl.obolibrary.org/obo/HP_0002126		More grooves in brain
OBO:HP_0002127	Abnormal upper motor neuron morphology	biolink:OntologyClass	hp	UMLS:C4025723	Any structural anomaly that affects the upper motor neuron.	http://purl.obolibrary.org/obo/HP_0002127		Abnormal shape of upper motor neuron
OBO:HP_0002131	Episodic ataxia	biolink:OntologyClass	hp	MSH:C580065|SNOMEDCT_US:421455009|UMLS:C1720189	Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days. 	http://purl.obolibrary.org/obo/HP_0002131		Intermittent cerebellar ataxia|Paroxysmal ataxia
OBO:HP_0002132	Porencephalic cyst	biolink:OntologyClass	hp	MSH:D065708|UMLS:C4082173	A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system.	http://purl.obolibrary.org/obo/HP_0002132		Cavity within brain
OBO:HP_0002133	Status epilepticus	biolink:OntologyClass	hp	MSH:D013226|SNOMEDCT_US:230456007|UMLS:C0038220	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.	http://purl.obolibrary.org/obo/HP_0002133		Repeated seizures without recovery between them|Prolonged seizure|Repeated seizure without recovery
OBO:HP_0002134	Abnormality of the basal ganglia	biolink:OntologyClass	hp	MSH:D001480|SNOMEDCT_US:70835005|UMLS:C0004782	Abnormality of the basal ganglia.	http://purl.obolibrary.org/obo/HP_0002134		Anomaly of the basal ganglia|Basal ganglia disease
OBO:HP_0002135	Basal ganglia calcification	biolink:OntologyClass	hp	UMLS:C1389280	The presence of calcium deposition affecting one or more structures of the basal ganglia.	http://purl.obolibrary.org/obo/HP_0002135		Basal ganglia calcifications|Basal ganglion calcification|Calcification of the basal ganglia
OBO:HP_0002136	Broad-based gait	biolink:OntologyClass	hp	UMLS:C0856863	An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia.	http://purl.obolibrary.org/obo/HP_0002136		Wide based walk|Broad based gait|Wide based gait|Wide-based gait
OBO:HP_0002138	Subarachnoid hemorrhage	biolink:OntologyClass	hp	MSH:D013345|SNOMEDCT_US:21454007|UMLS:C0038525	Hemorrhage occurring between the arachnoid mater and the pia mater.	http://purl.obolibrary.org/obo/HP_0002138		Subarachnoid haemorrhage
OBO:HP_0002139	Arrhinencephaly	biolink:OntologyClass	hp	MSH:D016142|UMLS:C0078982		http://purl.obolibrary.org/obo/HP_0002139		
OBO:HP_0002140	Ischemic stroke	biolink:OntologyClass	hp	SNOMEDCT_US:422504002|UMLS:C0948008	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.	http://purl.obolibrary.org/obo/HP_0002140		Ischaemic stroke
OBO:HP_0002141	Gait imbalance	biolink:OntologyClass	hp	UMLS:C1836150		http://purl.obolibrary.org/obo/HP_0002141		Abnormality of balance|Abnormality of equilibrium|Imbalanced walk
OBO:HP_0002143	Abnormality of the spinal cord	biolink:OntologyClass	hp	MSH:D013118|SNOMEDCT_US:48522003|UMLS:C0037928|UMLS:C4025722	An abnormality of the spinal cord (myelon).	http://purl.obolibrary.org/obo/HP_0002143		Abnormality of the spinal cord|Spinal cord disease|Spinal cord pathology
OBO:HP_0002144	Tethered cord	biolink:OntologyClass	hp	MSH:D009436|SNOMEDCT_US:70534000|UMLS:C0080218	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.	http://purl.obolibrary.org/obo/HP_0002144		Occult spinal dysraphism
OBO:HP_0002145	Frontotemporal dementia	biolink:OntologyClass	hp	MSH:D057180|SNOMEDCT_US:230270009|UMLS:C0338451	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.	http://purl.obolibrary.org/obo/HP_0002145		
OBO:HP_0002148	Hypophosphatemia	biolink:OntologyClass	hp	MSH:D017674|SNOMEDCT_US:4996001|UMLS:C0085682	An abnormally decreased phosphate concentration in the blood.	http://purl.obolibrary.org/obo/HP_0002148		Low blood phosphate level|Hypophosphataemia
OBO:HP_0002149	Hyperuricemia	biolink:OntologyClass	hp	MSH:D033461|SNOMEDCT_US:35885006|UMLS:C0740394	An abnormally high level of uric acid in the blood.	http://purl.obolibrary.org/obo/HP_0002149		High blood uric acid level|Hyperuricaemia
OBO:HP_0002150	Hypercalciuria	biolink:OntologyClass	hp	MSH:D053565|SNOMEDCT_US:71938000|UMLS:C0020438		http://purl.obolibrary.org/obo/HP_0002150		Elevated urine calcium levels|Hypercalcinuria
OBO:HP_0002151	Increased serum lactate	biolink:OntologyClass	hp	UMLS:C1836440	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).	http://purl.obolibrary.org/obo/HP_0002151		Higher than normal levels of lactate in blood|Increased blood lactate
OBO:HP_0002152	Hyperproteinemia	biolink:OntologyClass	hp	SNOMEDCT_US:37064009|UMLS:C0267988	An increased concentration of proteins in the blood.	http://purl.obolibrary.org/obo/HP_0002152		
OBO:HP_0002153	Hyperkalemia	biolink:OntologyClass	hp	MSH:D006947|SNOMEDCT_US:14140009|SNOMEDCT_US:166689004|SNOMEDCT_US:238142003|UMLS:C0020461	An abnormally increased potassium concentration in the blood.	http://purl.obolibrary.org/obo/HP_0002153		Elevated serum potassium levels
OBO:HP_0002154	Hyperglycinemia	biolink:OntologyClass	hp	SNOMEDCT_US:64654004|UMLS:C0268559	An elevated concentration of glycine in the blood.	http://purl.obolibrary.org/obo/HP_0002154		Elevated blood glycine levels|Hyperglycinaemia
OBO:HP_0002155	Hypertriglyceridemia	biolink:OntologyClass	hp	UMLS:C1522137	An abnormal increase in the level of triglycerides in the blood.	http://purl.obolibrary.org/obo/HP_0002155		Increased circulating Tg levels|Increased plasma Tg levels|Increased plasma triglycerides|Increased serum triglycerides|Increased triglycerides
OBO:HP_0002156	Homocystinuria	biolink:OntologyClass	hp	MSH:D006712|SNOMEDCT_US:11282001|UMLS:C0019880	An increased concentration of homocystine in the urine.	http://purl.obolibrary.org/obo/HP_0002156		High urine homocystine levels
OBO:HP_0002157	Azotemia	biolink:OntologyClass	hp	MSH:D053099|SNOMEDCT_US:445009001|UMLS:C0242528	An increased concentration of nitrogen compounds in the blood.	http://purl.obolibrary.org/obo/HP_0002157		Azotaemia
OBO:HP_0002159	Heparan sulfate excretion in urine	biolink:OntologyClass	hp	UMLS:C1854827	An increased concentration of heparan sulfates in the urine.	http://purl.obolibrary.org/obo/HP_0002159		Heparan sulphate excretion in urine
OBO:HP_0002160	Hyperhomocystinemia	biolink:OntologyClass	hp	UMLS:C3806347	An increased concentration of homocystine in the blood.	http://purl.obolibrary.org/obo/HP_0002160		Elevated blood homocystine|Homocystinemia
OBO:HP_0002161	Hyperlysinemia	biolink:OntologyClass	hp	MSH:D020167|SNOMEDCT_US:58558003|UMLS:C0268553	An increased concentration of lysine in the blood.	http://purl.obolibrary.org/obo/HP_0002161		Elevated blood lysine
OBO:HP_0002162	Low posterior hairline	biolink:OntologyClass	hp	UMLS:C1855728	Hair on the neck extends more inferiorly than usual.	http://purl.obolibrary.org/obo/HP_0002162	hposlim_core	Low hairline at back of neck|Low posterior hair line
OBO:HP_0002164	Nail dysplasia	biolink:OntologyClass	hp	UMLS:C1834405	The presence of developmental dysplasia of the nail.	http://purl.obolibrary.org/obo/HP_0002164		Atypical nail growth|Dysplastic nails|Onychodysplasia
OBO:HP_0002165	Pterygium of nails	biolink:OntologyClass	hp	SNOMEDCT_US:110987009|UMLS:C0406438	Inward advance of skin over the nail plate.	http://purl.obolibrary.org/obo/HP_0002165		Nail pterygium
OBO:HP_0002166	Impaired vibration sensation in the lower limbs	biolink:OntologyClass	hp	UMLS:C1849134	A decrease in the ability to perceive vibration in the legs.	http://purl.obolibrary.org/obo/HP_0002166		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
OBO:HP_0002167	Neurological speech impairment	biolink:OntologyClass	hp	MSH:D013064|UMLS:C0037822		http://purl.obolibrary.org/obo/HP_0002167		Speech disorder|Speech impairment|Speech impediment
OBO:HP_0002168	Scanning speech	biolink:OntologyClass	hp	SNOMEDCT_US:102935005|SNOMEDCT_US:77420001|UMLS:C0278184|UMLS:C0522198		http://purl.obolibrary.org/obo/HP_0002168		Explosive speech
OBO:HP_0002169	Clonus	biolink:OntologyClass	hp	SNOMEDCT_US:36649002|UMLS:C0009024	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.	http://purl.obolibrary.org/obo/HP_0002169		Involuntary rhythmic muscular contractions and relaxations
OBO:HP_0002170	Intracranial hemorrhage	biolink:OntologyClass	hp	MSH:D020300|SNOMEDCT_US:1386000|UMLS:C0151699	Hemorrhage occurring within the skull.	http://purl.obolibrary.org/obo/HP_0002170		Bleeding within the skull|Intracranial haemorrhage
OBO:HP_0002171	Gliosis	biolink:OntologyClass	hp	MSH:D005911|SNOMEDCT_US:359580009|SNOMEDCT_US:81415000|UMLS:C0017639	Gliosis is the focal proliferation of glial cells in the central nervous system.	http://purl.obolibrary.org/obo/HP_0002171		Cerebral gliosis|Excess astrocytes in brain
OBO:HP_0002172	Postural instability	biolink:OntologyClass	hp	UMLS:C1843921	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.	http://purl.obolibrary.org/obo/HP_0002172		Balance impairment|Abnormal retropulsion test|Imbalance
OBO:HP_0002173	Hypoglycemic seizures	biolink:OntologyClass	hp	UMLS:C0877056		http://purl.obolibrary.org/obo/HP_0002173		
OBO:HP_0002174	Postural tremor	biolink:OntologyClass	hp	MSH:D014202|SNOMEDCT_US:56610005|UMLS:C0234378	A type of tremors that is triggered by holding a limb in a fixed position.	http://purl.obolibrary.org/obo/HP_0002174		Tremor, postural
OBO:HP_0002176	Spinal cord compression	biolink:OntologyClass	hp	MSH:D013117|SNOMEDCT_US:71286001|UMLS:C0037926	External mechanical compression of the spinal cord.	http://purl.obolibrary.org/obo/HP_0002176		Pressure on spinal cord
OBO:HP_0002179	Opisthotonus	biolink:OntologyClass	hp	SNOMEDCT_US:8652009|UMLS:C0151818		http://purl.obolibrary.org/obo/HP_0002179		Opisthotonos
OBO:HP_0002180	Neurodegeneration	biolink:OntologyClass	hp	MSH:D009410|MSH:D019636|UMLS:C0027746|UMLS:C0524851|UMLS:C4020854	Progressive loss of neural cells and tissue.	http://purl.obolibrary.org/obo/HP_0002180		Ongoing loss of nerve cells|Neuro-degenerative disease|Neurodegenerative disease|Progressive neurodegenerative disorder
OBO:HP_0002181	Cerebral edema	biolink:OntologyClass	hp	MSH:D001929|SNOMEDCT_US:2032001|UMLS:C0006114|UMLS:C1527311	Abnormal accumulation of fluid in the brain.	http://purl.obolibrary.org/obo/HP_0002181		Brain swelling|Swelling of brain|Cerebral oedema|Brain edema|Brain oedema
OBO:HP_0002183	Phonophobia	biolink:OntologyClass	hp	MSH:D012001|SNOMEDCT_US:313387002|UMLS:C0751466	An abnormally heightened sensitivity to loud sounds.	http://purl.obolibrary.org/obo/HP_0002183		Fear of loud sounds
OBO:HP_0002185	Neurofibrillary tangles	biolink:OntologyClass	hp	MSH:D016874|SNOMEDCT_US:85775002|UMLS:C0085400	Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form.	http://purl.obolibrary.org/obo/HP_0002185		Neurofibrillary tangles composed of disordered microtubules in neurons|Paired helical filaments
OBO:HP_0002186	Apraxia	biolink:OntologyClass	hp	MSH:D001072|SNOMEDCT_US:68345001|SNOMEDCT_US:6950007|UMLS:C0003635	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.	http://purl.obolibrary.org/obo/HP_0002186		Apraxias
OBO:HP_0002187	Intellectual disability, profound	biolink:OntologyClass	hp	MSH:D008607|SNOMEDCT_US:31216003|UMLS:C0020796|UMLS:C3161330	Profound mental retardation is defined as an intelligence quotient (IQ) below 20.	http://purl.obolibrary.org/obo/HP_0002187		IQ less than 20|Mental retardation, profound|Profound mental retardation
OBO:HP_0002188	Delayed CNS myelination	biolink:OntologyClass	hp	UMLS:C4021758	Delayed myelination in the central nervous system.	http://purl.obolibrary.org/obo/HP_0002188		Delay in central nervous system myelination
OBO:HP_0002189	obsolete Excessive daytime sleepiness	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0002189		
OBO:HP_0002190	Choroid plexus cyst	biolink:OntologyClass	hp	SNOMEDCT_US:230790004|UMLS:C0338597	A cyst occurring within the choroid plexus within a cerebral ventricle.	http://purl.obolibrary.org/obo/HP_0002190		
OBO:HP_0002191	Progressive spasticity	biolink:OntologyClass	hp	UMLS:C1859520	Spasticity that increases in degree with time.	http://purl.obolibrary.org/obo/HP_0002191		Spasticity, progressive
OBO:HP_0002193	Pseudobulbar behavioral symptoms	biolink:OntologyClass	hp	UMLS:C4025720	Individuals with Pseudobulbar signs often also demonstrate abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc.	http://purl.obolibrary.org/obo/HP_0002193		Pseudobulbar behavioural symptoms
OBO:HP_0002194	Delayed gross motor development	biolink:OntologyClass	hp	SNOMEDCT_US:430099007|UMLS:C1837658	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.	http://purl.obolibrary.org/obo/HP_0002194		Delayed motor skills|Delayed gross motor skills|Developmental delay, gross motor|Gross motor delay|Limited gross motor development
OBO:HP_0002195	Dysgenesis of the cerebellar vermis	biolink:OntologyClass	hp	UMLS:C4025719	Defective development of the vermis of cerebellum.	http://purl.obolibrary.org/obo/HP_0002195		
OBO:HP_0002196	Myelopathy	biolink:OntologyClass	hp	MSH:D013118|SNOMEDCT_US:48522003|UMLS:C0037928		http://purl.obolibrary.org/obo/HP_0002196		
OBO:HP_0002197	Generalized-onset seizure	biolink:OntologyClass	hp	MSH:D012640|SNOMEDCT_US:246545002|UMLS:C0234533|UMLS:C1833488	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.	http://purl.obolibrary.org/obo/HP_0002197		Generalized seizures|Generalized-onset seizures|Generalised onset seizure|Generalised-onset seizure|Generalized onset seizure|Primary generalized seizure
OBO:HP_0002198	Dilated fourth ventricle	biolink:OntologyClass	hp	UMLS:C1847117	An abnormal dilatation of the fourth cerebral ventricle.	http://purl.obolibrary.org/obo/HP_0002198		Enlarged fourth ventricle
OBO:HP_0002199	Hypocalcemic seizures	biolink:OntologyClass	hp	UMLS:C1855841		http://purl.obolibrary.org/obo/HP_0002199		Low calcium seizures|Seizures due to hypocalcemia
OBO:HP_0002200	Pseudobulbar signs	biolink:OntologyClass	hp	UMLS:C1838579	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.	http://purl.obolibrary.org/obo/HP_0002200		Pseudobulbar symptoms
OBO:HP_0002202	Pleural effusion	biolink:OntologyClass	hp	MSH:D010996|SNOMEDCT_US:60046008|UMLS:C0032227	The presence of an excessive amount of fluid in the pleural cavity.	http://purl.obolibrary.org/obo/HP_0002202		Fluid around lungs
OBO:HP_0002203	Respiratory paralysis	biolink:OntologyClass	hp	MSH:D012133|SNOMEDCT_US:64228003|UMLS:C0035232	Inability to move the muscles of respiration.	http://purl.obolibrary.org/obo/HP_0002203		
OBO:HP_0002204	Pulmonary embolism	biolink:OntologyClass	hp	MSH:D011655|SNOMEDCT_US:59282003|UMLS:C0034065	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.	http://purl.obolibrary.org/obo/HP_0002204		Blood clot in artery of lung
OBO:HP_0002205	Recurrent respiratory infections	biolink:OntologyClass	hp	UMLS:C3806482	An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.	http://purl.obolibrary.org/obo/HP_0002205		Frequent respiratory infections|Multiple respiratory infections|Recurrent respiratory infections|Susceptibility to respiratory infections|respiratory infections, recurrent
OBO:HP_0002206	Pulmonary fibrosis	biolink:OntologyClass	hp	MSH:D011658|SNOMEDCT_US:51615001|UMLS:C0034069	Replacement of normal lung tissues by fibroblasts and collagen.	http://purl.obolibrary.org/obo/HP_0002206		
OBO:HP_0002207	Diffuse reticular or finely nodular infiltrations	biolink:OntologyClass	hp	UMLS:C1843428		http://purl.obolibrary.org/obo/HP_0002207		
OBO:HP_0002208	Coarse hair	biolink:OntologyClass	hp	SNOMEDCT_US:48610005|UMLS:C0277959|UMLS:C4072834	Hair shafts are rough in texture.	http://purl.obolibrary.org/obo/HP_0002208	hposlim_core	Rough hair texture|Coarse hair|Coarse hair texture
OBO:HP_0002209	Sparse scalp hair	biolink:OntologyClass	hp	UMLS:C1857042|UMLS:C1873509	Decreased number of hairs per unit area of skin of the scalp.	http://purl.obolibrary.org/obo/HP_0002209		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
OBO:HP_0002211	White forelock	biolink:OntologyClass	hp	SNOMEDCT_US:247564004|UMLS:C0344312	A triangular depigmented region of white hairs located in the anterior midline of the scalp.	http://purl.obolibrary.org/obo/HP_0002211	hposlim_core	White part of hair above forehead|Poliosis of anterior hair|Poliosis of forelock hair
OBO:HP_0002212	Curly hair	biolink:OntologyClass	hp	SNOMEDCT_US:225570000|UMLS:C0558165		http://purl.obolibrary.org/obo/HP_0002212		Curly hair
OBO:HP_0002213	Fine hair	biolink:OntologyClass	hp	SNOMEDCT_US:247546006|UMLS:C0423867	Hair that is fine or thin to the touch.	http://purl.obolibrary.org/obo/HP_0002213	hposlim_core	Fine hair|Fine hair shaft|Fine hair texture|Thin hair shaft|Thin hair texture|Thin hair|Thinned hair
OBO:HP_0002215	Sparse axillary hair	biolink:OntologyClass	hp	UMLS:C1858574	Reduced number or density of axillary hair.	http://purl.obolibrary.org/obo/HP_0002215		Limited armpit hair|Little underarm hair|Sparse axillary and pubic hair|Sparse scalp, axillary, and pubic hair|sparse to absent axillary hair
OBO:HP_0002216	Premature graying of hair	biolink:OntologyClass	hp	SNOMEDCT_US:387833009|UMLS:C0263498	Development of gray hair at a younger than normal age.	http://purl.obolibrary.org/obo/HP_0002216	hposlim_core	Early graying|Premature graying|Premature graying of hair|Premature greying|Premature hair graying|Premature greying of hair|Premature graying of the hair
OBO:HP_0002217	Slow-growing hair	biolink:OntologyClass	hp	UMLS:C1832348	Hair whose growth is slower than normal.	http://purl.obolibrary.org/obo/HP_0002217	hposlim_core	Slow growing hair|Slow rate of hair growth|Slow speed of hair growth|Slow-growing hair
OBO:HP_0002218	Silver-gray hair	biolink:OntologyClass	hp	UMLS:C1836576	Hypopigmented hair that appears silver-gray.	http://purl.obolibrary.org/obo/HP_0002218		Silver-gray hair|Silver-gray hair color|Silvery-gray hair
OBO:HP_0002219	Facial hypertrichosis	biolink:OntologyClass	hp	MSH:C565029|UMLS:C1851400	Excessive, increased hair growth located in the facial region.	http://purl.obolibrary.org/obo/HP_0002219		Increased facial hair growth
OBO:HP_0002220	Melanin pigment aggregation in hair shafts	biolink:OntologyClass	hp	UMLS:C1843390		http://purl.obolibrary.org/obo/HP_0002220		
OBO:HP_0002221	Absent axillary hair	biolink:OntologyClass	hp	UMLS:C1859392	Absence of axillary hair.	http://purl.obolibrary.org/obo/HP_0002221		
OBO:HP_0002223	Absent eyebrow	biolink:OntologyClass	hp	SNOMEDCT_US:253208007|SNOMEDCT_US:422441003|UMLS:C0431448|UMLS:C0578682|UMLS:C4280581|UMLS:C4280582	Absence of the eyebrow.	http://purl.obolibrary.org/obo/HP_0002223	hposlim_core	Absent eyebrow|Failure of development of eyebrows|Loss of eyebrows|Missing eyebrows|Absent eyebrows|Agenesis of eyebrows|Aplasia of eyebrows
OBO:HP_0002224	Woolly hair	biolink:OntologyClass	hp	MEDDRA:10048017|SNOMEDCT_US:52564001|UMLS:C0343073|UMLS:C4072835|UMLS:C4072836|UMLS:C4073292	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.	http://purl.obolibrary.org/obo/HP_0002224	hposlim_core	Nappy hair texture|Kinked hair|Afro-textured hair|Kinky hair texture|Wooly hair
OBO:HP_0002225	Sparse pubic hair	biolink:OntologyClass	hp	UMLS:C1858573	Reduced number or density of pubic hair.	http://purl.obolibrary.org/obo/HP_0002225	hposlim_core	Decreased sexual hair|Sparse pubic hair|sparse to absent pubic hair
OBO:HP_0002226	White eyebrow	biolink:OntologyClass	hp	UMLS:C1836737|UMLS:C4280579|UMLS:C4280580	White color (lack of pigmentation) of the eyebrow.	http://purl.obolibrary.org/obo/HP_0002226	hposlim_core	Pale eyebrow|White eyebrow|Grey eyebrow|Blonde eyebrow|Depigmented eyebrow|Hypopigmented eyebrow
OBO:HP_0002227	White eyelashes	biolink:OntologyClass	hp	UMLS:C1836736|UMLS:C4280578	White color (lack of pigmentation) of the eyelashes.	http://purl.obolibrary.org/obo/HP_0002227		Blonde eyelashes|Pale eyelashes|White eyelashes|Grey eyelashes|Depigmented eyelashes
OBO:HP_0002229	obsolete Alopecia areata	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0002229		
OBO:HP_0002230	Generalized hirsutism	biolink:OntologyClass	hp	UMLS:C1849211	Abnormally increased hair growth over much of the entire body.	http://purl.obolibrary.org/obo/HP_0002230		Excessive hairiness over body|Generalised hirsutism
OBO:HP_0002231	Sparse body hair	biolink:OntologyClass	hp	UMLS:C1862863	Sparseness of the body hair.	http://purl.obolibrary.org/obo/HP_0002231	hposlim_core	Sparse body hair|Limited body hair|Little body hair|Sparse to absent body hair
OBO:HP_0002232	Patchy alopecia	biolink:OntologyClass	hp	MSH:C531609|MSH:D000506|SNOMEDCT_US:68225006|UMLS:C0002171|UMLS:C1862862	Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches.	http://purl.obolibrary.org/obo/HP_0002232		Patchy baldness|Alopecia areata
OBO:HP_0002234	Early balding	biolink:OntologyClass	hp	UMLS:C4025718	Loss of scalp hair at an earlier than normal age.	http://purl.obolibrary.org/obo/HP_0002234		Early balding
OBO:HP_0002235	Pili canaliculi	biolink:OntologyClass	hp	UMLS:C1860608	Uncombable hair.	http://purl.obolibrary.org/obo/HP_0002235		
OBO:HP_0002236	Frontal upsweep of hair	biolink:OntologyClass	hp	UMLS:C1185616|UMLS:C2675540|UMLS:C3275754	Upward and/or sideward growth of anterior hair.	http://purl.obolibrary.org/obo/HP_0002236	hposlim_core	Cowlick|Frontal Cowlick|Frontal upsweep of hair|Upswept frontal hair|Upswept frontal hair pattern|Upswept frontal hairline
OBO:HP_0002239	Gastrointestinal hemorrhage	biolink:OntologyClass	hp	MSH:D006471|SNOMEDCT_US:74474003|UMLS:C0017181	Hemorrhage affecting the gastrointestinal tract.	http://purl.obolibrary.org/obo/HP_0002239		GI hemorrhage|Gastrointestinal bleeding|Gastrointestinal haemorrhage
OBO:HP_0002240	Hepatomegaly	biolink:OntologyClass	hp	MSH:D006529|SNOMEDCT_US:80515008|UMLS:C0019209	Abnormally increased size of the liver.	http://purl.obolibrary.org/obo/HP_0002240		Enlarged liver
OBO:HP_0002242	Abnormal intestine morphology	biolink:OntologyClass	hp	MSH:D007410|SNOMEDCT_US:85919009|UMLS:C0021831	An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine.	http://purl.obolibrary.org/obo/HP_0002242		Abnormality of the intestine|Enteropathy
OBO:HP_0002243	Protein-losing enteropathy	biolink:OntologyClass	hp	MSH:D011504|SNOMEDCT_US:22542007|SNOMEDCT_US:66972006|UMLS:C0033680	Abnormal loss of protein from the digestive tract related to excessive leakage of plasma proteins into the lumen of the gastrointestinal tract.	http://purl.obolibrary.org/obo/HP_0002243		
OBO:HP_0002244	Abnormality of the small intestine	biolink:OntologyClass	hp	UMLS:C4025717	An abnormality of the small intestine.	http://purl.obolibrary.org/obo/HP_0002244		
OBO:HP_0002245	Meckel diverticulum	biolink:OntologyClass	hp	MEDDRA:10027055|MSH:D008467|SNOMEDCT_US:127962001|SNOMEDCT_US:37373007|UMLS:C0025037	Meckel's diverticulum is a congenital diverticulum located in the distal ileum.	http://purl.obolibrary.org/obo/HP_0002245		
OBO:HP_0002246	Abnormal duodenum morphology	biolink:OntologyClass	hp	UMLS:C4025716	An abnormality of the duodenum, i.e., the first section of the small intestine.	http://purl.obolibrary.org/obo/HP_0002246	hposlim_core	Abnormality of the duodenum
OBO:HP_0002247	Duodenal atresia	biolink:OntologyClass	hp	Fyler:4406|MEDDRA:10013812|MSH:C535720|SNOMEDCT_US:51118003|UMLS:C0266174	A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum.	http://purl.obolibrary.org/obo/HP_0002247	hposlim_core	Absence or narrowing of first part of small bowel
OBO:HP_0002248	Hematemesis	biolink:OntologyClass	hp	MSH:D006396|SNOMEDCT_US:8765009|UMLS:C0018926	The vomiting of blood.	http://purl.obolibrary.org/obo/HP_0002248		Vomitting blood
OBO:HP_0002249	Melena	biolink:OntologyClass	hp	MSH:D008551|SNOMEDCT_US:249627005|SNOMEDCT_US:267055007|SNOMEDCT_US:269899009|SNOMEDCT_US:2901004|SNOMEDCT_US:35064005|UMLS:C0025222|UMLS:C0474585	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.	http://purl.obolibrary.org/obo/HP_0002249		Black feces
OBO:HP_0002250	Abnormal large intestine morphology	biolink:OntologyClass	hp	UMLS:C4025715	Any abnormality of the large intestine.	http://purl.obolibrary.org/obo/HP_0002250		Abnormality of the large intestine
OBO:HP_0002251	Aganglionic megacolon	biolink:OntologyClass	hp	MEDDRA:10027110|MSH:D006627|MSH:D008531|SNOMEDCT_US:204739008|SNOMEDCT_US:33995003|SNOMEDCT_US:367495003|UMLS:C0019569|UMLS:C0025160	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.	http://purl.obolibrary.org/obo/HP_0002251	hposlim_core	Enlarged colon lacking nerve cells|Congenital megacolon|Hirschsprung megacolon|Megacolon|Hirschsprung disease
OBO:HP_0002253	Colonic diverticula	biolink:OntologyClass	hp	MEDDRA:10009993|MSH:D004241|MSH:D043963|SNOMEDCT_US:398050005|UMLS:C0012811|UMLS:C0012819	The presence of multiple diverticula of the colon.	http://purl.obolibrary.org/obo/HP_0002253	hposlim_core	Colonic diverticulosis|Colon diverticula
OBO:HP_0002254	Intermittent diarrhea	biolink:OntologyClass	hp	UMLS:C0239181	Repeated episodes of diarrhea separated by periods without diarrhea.	http://purl.obolibrary.org/obo/HP_0002254		Intermittent diarrhoea|Episodic diarrhea
OBO:HP_0002256	Small bowel diverticula	biolink:OntologyClass	hp	MEDDRA:10013533|SNOMEDCT_US:8114009|UMLS:C0267498		http://purl.obolibrary.org/obo/HP_0002256	hposlim_core	
OBO:HP_0002257	Chronic rhinitis	biolink:OntologyClass	hp	SNOMEDCT_US:86094006|UMLS:C0008711	Chronic inflammation of the nasal mucosa.	http://purl.obolibrary.org/obo/HP_0002257		
OBO:HP_0002263	Exaggerated cupid's bow	biolink:OntologyClass	hp	UMLS:C1850629	More pronounced paramedian peaks and median notch of the Cupid's bow.	http://purl.obolibrary.org/obo/HP_0002263	hposlim_core	Cupid bow upper lip|Cupid-bow shaped upper lip|Exaggerated cupid's bow|Prominent cupid-bow of upper lip|Cupid's bow, accentuated
OBO:HP_0002265	Large fleshy ears	biolink:OntologyClass	hp	UMLS:C3808403		http://purl.obolibrary.org/obo/HP_0002265		Large fleshy ears
OBO:HP_0002266	Focal clonic seizure	biolink:OntologyClass	hp	MSH:D020938|UMLS:C0752323	A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.	http://purl.obolibrary.org/obo/HP_0002266		Focal clonic seizures|Localised clonic seizure|Localized clonic seizure|Partial clonic seizure|Segmental clonic seizure
OBO:HP_0002267	Exaggerated startle response	biolink:OntologyClass	hp	MSH:D000071017|SNOMEDCT_US:19557000|UMLS:C0234166|UMLS:C1740801|UMLS:C1836014|UMLS:C1848918	An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face.	http://purl.obolibrary.org/obo/HP_0002267		Exaggerated acoustic startle response|Increased startle response|Hyperekplexia
OBO:HP_0002268	Paroxysmal dystonia	biolink:OntologyClass	hp	MSH:D004421|SNOMEDCT_US:230310003|UMLS:C0393588	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.	http://purl.obolibrary.org/obo/HP_0002268		Episodic dystonia
OBO:HP_0002269	Abnormality of neuronal migration	biolink:OntologyClass	hp	MSH:D054081|UMLS:C1837249	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.	http://purl.obolibrary.org/obo/HP_0002269		Abnormal neuronal migration|Heterotopias/abnormal migration|Migrational brain disorder|Neuronal migration disorder
OBO:HP_0002270	Abnormality of the autonomic nervous system	biolink:OntologyClass	hp	UMLS:C4025714	An abnormality of the autonomic nervous system.	http://purl.obolibrary.org/obo/HP_0002270		
OBO:HP_0002271	obsolete Autonomic dysregulation	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0002271		
OBO:HP_0002273	Tetraparesis	biolink:OntologyClass	hp	MSH:D011782|SNOMEDCT_US:91327001|UMLS:C0270790	Weakness of all four limbs.	http://purl.obolibrary.org/obo/HP_0002273		Quadriparesis
OBO:HP_0002275	Poor motor coordination	biolink:OntologyClass	hp	UMLS:C1848453		http://purl.obolibrary.org/obo/HP_0002275		Poor motor coordination
OBO:HP_0002277	Horner syndrome	biolink:OntologyClass	hp	MSH:D006732|SNOMEDCT_US:12731000|SNOMEDCT_US:192915005|SNOMEDCT_US:271730003|UMLS:C0019937	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.	http://purl.obolibrary.org/obo/HP_0002277		Horner's syndrome|Oculosympathetic palsy
OBO:HP_0002280	Enlarged cisterna magna	biolink:OntologyClass	hp	UMLS:C1853377	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.	http://purl.obolibrary.org/obo/HP_0002280		Large cisterna magna|Mega cisterna magna
OBO:HP_0002281	obsolete Gray matter heterotopias	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0002281		
OBO:HP_0002282	Gray matter heterotopia	biolink:OntologyClass	hp	MSH:D002828|SNOMEDCT_US:128490007|SNOMEDCT_US:416286003|SNOMEDCT_US:417338002|UMLS:C0008519	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.	http://purl.obolibrary.org/obo/HP_0002282		Gray matter heterotopias|Heterotopias|Grey matter heterotopia|Heterotopia|Neuronal heterotopia
OBO:HP_0002283	Global brain atrophy	biolink:OntologyClass	hp	UMLS:C0241816	Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size.	http://purl.obolibrary.org/obo/HP_0002283		Generalized brain degeneration|Diffuse brain atrophy|Generalized brain atrophy|Generalized cerebral atrophy
OBO:HP_0002286	Fair hair	biolink:OntologyClass	hp	SNOMEDCT_US:297995004|UMLS:C0239801|UMLS:C1849221	A lesser degree of hair pigmentation than would otherwise be expected.	http://purl.obolibrary.org/obo/HP_0002286		Blond hair|Fair hair|Fair hair color|Flaxen hair color|Light colored hair|Sandy hair color|Straw colored hair|Towhead (hair color)
OBO:HP_0002287	Progressive alopecia	biolink:OntologyClass	hp	UMLS:C1851885	Progressive loss of hair.	http://purl.obolibrary.org/obo/HP_0002287		
OBO:HP_0002289	Alopecia universalis	biolink:OntologyClass	hp	MSH:C537055|SNOMEDCT_US:86166000|UMLS:C0263505	Loss of all hair on the entire body.	http://purl.obolibrary.org/obo/HP_0002289		Alopecia, complete|Universal alopecia
OBO:HP_0002290	Poliosis	biolink:OntologyClass	hp	SNOMEDCT_US:14240001|UMLS:C0221262	Circumscribed depigmentation of the hair of the head or the eyelashes.	http://purl.obolibrary.org/obo/HP_0002290		Patch of white hair|White patch
OBO:HP_0002292	Frontal balding	biolink:OntologyClass	hp	MSH:D000505|SNOMEDCT_US:87872006|UMLS:C1864584|UMLS:C4083212	Absence of hair in the anterior midline and/or parietal areas.	http://purl.obolibrary.org/obo/HP_0002292	hposlim_core	Male pattern baldness|Frontal balding
OBO:HP_0002293	Alopecia of scalp	biolink:OntologyClass	hp	MSH:D000505|SNOMEDCT_US:278040002|SNOMEDCT_US:298000004|SNOMEDCT_US:56317004|UMLS:C0002170|UMLS:C0574769|UMLS:C1850535		http://purl.obolibrary.org/obo/HP_0002293		Absence of scalp hair|Baldness|Missing scalp hair|Pathologic hair loss from scalp|Scalp hair loss
OBO:HP_0002296	Progressive hypotrichosis	biolink:OntologyClass	hp	UMLS:C1857048	Progressively reduced or lacking hair growth.	http://purl.obolibrary.org/obo/HP_0002296		
OBO:HP_0002297	Red hair	biolink:OntologyClass	hp	SNOMEDCT_US:297997007|UMLS:C0239803		http://purl.obolibrary.org/obo/HP_0002297		Ginger hair color|Red hair|Red hair color|Red head (hair color)
OBO:HP_0002298	Absent hair	biolink:OntologyClass	hp	SNOMEDCT_US:297991008|UMLS:C0574763		http://purl.obolibrary.org/obo/HP_0002298		Absent hair
OBO:HP_0002299	Brittle hair	biolink:OntologyClass	hp	SNOMEDCT_US:25159003|UMLS:C0263490|UMLS:C1851868|UMLS:C1970705|UMLS:C4072837	Fragile, easily breakable hair, i.e., with reduced tensile strength.	http://purl.obolibrary.org/obo/HP_0002299		Easily breakable hair|Fractured hair|Fragile hair|Reduced tensile strength of hair|Brittle hair
OBO:HP_0002300	Mutism	biolink:OntologyClass	hp	MSH:D009155|SNOMEDCT_US:88052002|UMLS:C0026884		http://purl.obolibrary.org/obo/HP_0002300		Inability to speak|Muteness
OBO:HP_0002301	Hemiplegia	biolink:OntologyClass	hp	MSH:D006429|SNOMEDCT_US:50582007|UMLS:C0018991	Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body.	http://purl.obolibrary.org/obo/HP_0002301		Paralysis on one side of body
OBO:HP_0002304	Akinesia	biolink:OntologyClass	hp	SNOMEDCT_US:33994004|UMLS:C0085623	Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily.	http://purl.obolibrary.org/obo/HP_0002304		
OBO:HP_0002305	Athetosis	biolink:OntologyClass	hp	MSH:D001264|SNOMEDCT_US:44913001|SNOMEDCT_US:58593005|UMLS:C0004158|UMLS:C1845265	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.	http://purl.obolibrary.org/obo/HP_0002305		Involuntary writhing movements in fingers, hands, toes, and feet|Athetoid movements|Involuntary writhing movements
OBO:HP_0002307	Drooling	biolink:OntologyClass	hp	MSH:D012798|SNOMEDCT_US:275295002|SNOMEDCT_US:53827007|SNOMEDCT_US:62718007|UMLS:C0013132|UMLS:C0037036	Habitual flow of saliva out of the mouth.	http://purl.obolibrary.org/obo/HP_0002307		Dribbling|Drooling|Sialorrhea
OBO:HP_0002308	Arnold-Chiari malformation	biolink:OntologyClass	hp	MSH:D001139|SNOMEDCT_US:253184003|UMLS:C0003803	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.	http://purl.obolibrary.org/obo/HP_0002308		Chiari malformation
OBO:HP_0002310	Orofacial dyskinesia	biolink:OntologyClass	hp	MSH:D020820|SNOMEDCT_US:49386006|UMLS:C0152115		http://purl.obolibrary.org/obo/HP_0002310		Orofacial dyskinesias
OBO:HP_0002311	Incoordination	biolink:OntologyClass	hp	MSH:D001259|SNOMEDCT_US:281016006|SNOMEDCT_US:302289002|UMLS:C0520966		http://purl.obolibrary.org/obo/HP_0002311		Difficulties in coordination|Incoordination|Incoordination of limb movements|Limb incoordination
OBO:HP_0002312	Clumsiness	biolink:OntologyClass	hp	SNOMEDCT_US:7006003|UMLS:C0233844	Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects.	http://purl.obolibrary.org/obo/HP_0002312		Clumsiness
OBO:HP_0002313	Spastic paraparesis	biolink:OntologyClass	hp	MSH:D020336|SNOMEDCT_US:312444006|UMLS:C0037771		http://purl.obolibrary.org/obo/HP_0002313		
OBO:HP_0002314	Degeneration of the lateral corticospinal tracts	biolink:OntologyClass	hp	UMLS:C1846566	Deterioration of the tissues of the lateral corticospinal tracts.	http://purl.obolibrary.org/obo/HP_0002314		Degeneration of lateral corticospinal tracts
OBO:HP_0002315	Headache	biolink:OntologyClass	hp	MSH:D006261|SNOMEDCT_US:25064002|UMLS:C0018681	Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.	http://purl.obolibrary.org/obo/HP_0002315		Headache|Headaches
OBO:HP_0002317	Unsteady gait	biolink:OntologyClass	hp	MSH:D020233|SNOMEDCT_US:22631008|SNOMEDCT_US:394616008|UMLS:C0231686		http://purl.obolibrary.org/obo/HP_0002317		Unsteady walk|Gait instability
OBO:HP_0002318	Cervical myelopathy	biolink:OntologyClass	hp	SNOMEDCT_US:202664003|UMLS:C0149645		http://purl.obolibrary.org/obo/HP_0002318		
OBO:HP_0002321	Vertigo	biolink:OntologyClass	hp	MSH:D004244|MSH:D014717|SNOMEDCT_US:271789005|SNOMEDCT_US:399090003|SNOMEDCT_US:399153001|SNOMEDCT_US:404640003|UMLS:C0012833|UMLS:C0042571	An abnormal sensation of spinning while the body is actually stationary.	http://purl.obolibrary.org/obo/HP_0002321		Dizzy spell|Dizziness
OBO:HP_0002322	Resting tremor	biolink:OntologyClass	hp	MSH:D014202|SNOMEDCT_US:25082004|UMLS:C0234379	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.	http://purl.obolibrary.org/obo/HP_0002322		Resting tremor|Tremor at rest|Rest tremor|Parkinsonian tremor
OBO:HP_0002323	Anencephaly	biolink:OntologyClass	hp	Fyler:4332|MSH:D000757|SNOMEDCT_US:89369001|UMLS:C0002902	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.	http://purl.obolibrary.org/obo/HP_0002323		Embryonic anencephaly|Fetal anencephaly
OBO:HP_0002324	Hydranencephaly	biolink:OntologyClass	hp	MSH:D006832|SNOMEDCT_US:30023002|UMLS:C0020225	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.	http://purl.obolibrary.org/obo/HP_0002324		Hydrancephaly
OBO:HP_0002326	Transient ischemic attack	biolink:OntologyClass	hp	MSH:D002546|UMLS:C0917805		http://purl.obolibrary.org/obo/HP_0002326		TIA|Mini stroke|Transient ischaemic attack|Transient ischemic attacks
OBO:HP_0002329	Drowsiness	biolink:OntologyClass	hp	MSH:D012894|SNOMEDCT_US:271782001|SNOMEDCT_US:79519003|UMLS:C0013144	Excessive daytime sleepiness.	http://purl.obolibrary.org/obo/HP_0002329		Drowsiness|Sleepy
OBO:HP_0002330	Paroxysmal drowsiness	biolink:OntologyClass	hp	UMLS:C4025713	Attacks of disabling daytime drowsiness and low alertness.	http://purl.obolibrary.org/obo/HP_0002330		
OBO:HP_0002331	Recurrent paroxysmal headache	biolink:OntologyClass	hp	UMLS:C1854337	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.	http://purl.obolibrary.org/obo/HP_0002331		
OBO:HP_0002332	Lack of peer relationships	biolink:OntologyClass	hp	UMLS:C1845337		http://purl.obolibrary.org/obo/HP_0002332		Lack of peer relationships
OBO:HP_0002333	Motor deterioration	biolink:OntologyClass	hp	UMLS:C1866284	Loss of previously present motor (i.e., movement) abilities.	http://purl.obolibrary.org/obo/HP_0002333		Progressive degeneration of movement
OBO:HP_0002334	Abnormality of the cerebellar vermis	biolink:OntologyClass	hp	UMLS:C4025712	An anomaly of the vermis of cerebellum.	http://purl.obolibrary.org/obo/HP_0002334		
OBO:HP_0002335	Agenesis of cerebellar vermis	biolink:OntologyClass	hp	MSH:C536293|SNOMEDCT_US:253175003|SNOMEDCT_US:716997004|UMLS:C0431399	Congenital absence of the vermis of cerebellum.	http://purl.obolibrary.org/obo/HP_0002335		Cerebellar vermis aplasia|Vermian agenesis
OBO:HP_0002339	Abnormal caudate nucleus morphology	biolink:OntologyClass	hp	UMLS:C4025711	Any structural abnormality of the caudate nucleus.	http://purl.obolibrary.org/obo/HP_0002339		Abnormality of the caudate nucleus
OBO:HP_0002340	Caudate atrophy	biolink:OntologyClass	hp	UMLS:C1858116		http://purl.obolibrary.org/obo/HP_0002340		Caudate degeneration
OBO:HP_0002341	Cervical cord compression	biolink:OntologyClass	hp	UMLS:C0852866	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.	http://purl.obolibrary.org/obo/HP_0002341		Cervical cord compression myelopathy
OBO:HP_0002342	Intellectual disability, moderate	biolink:OntologyClass	hp	SNOMEDCT_US:61152003|UMLS:C0026351	Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.	http://purl.obolibrary.org/obo/HP_0002342		IQ between 34 and 49|Mental retardation, moderate|Moderate mental deficiency|Moderate mental retardation
OBO:HP_0002343	Normal pressure hydrocephalus	biolink:OntologyClass	hp	MSH:D006850|SNOMEDCT_US:30753002|UMLS:C0020258	A form of hydrocephalus characterized by enlarged cerebral ventricles and normal cerebrospinal fluid (CSF) pressure upon lumbar puncture.	http://purl.obolibrary.org/obo/HP_0002343		Normal-pressure hydrocephalus
OBO:HP_0002344	Progressive neurologic deterioration	biolink:OntologyClass	hp	UMLS:C1854838		http://purl.obolibrary.org/obo/HP_0002344		Worsening neurological symptoms|Neurologic deterioration|Neurologic deterioration, progressive|Progressive mental deterioration|Progressive neurodegeneration
OBO:HP_0002345	Action tremor	biolink:OntologyClass	hp	MSH:D014202|SNOMEDCT_US:30721006|UMLS:C0234376|UMLS:C4020853	A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement.	http://purl.obolibrary.org/obo/HP_0002345		Ataxic tremor
OBO:HP_0002346	Head tremor	biolink:OntologyClass	hp	UMLS:C0239882	An unintentional, oscillating to-and-fro muscle movement affecting head movement.	http://purl.obolibrary.org/obo/HP_0002346		Head tremor
OBO:HP_0002349	Focal aware seizure	biolink:OntologyClass	hp	MSH:D004828|SNOMEDCT_US:117891000119100|SNOMEDCT_US:79348005|UMLS:C0234974	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.	http://purl.obolibrary.org/obo/HP_0002349		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
OBO:HP_0002350	Cerebellar cyst	biolink:OntologyClass	hp	UMLS:C1847762		http://purl.obolibrary.org/obo/HP_0002350		Cerebellar cysts
OBO:HP_0002352	Leukoencephalopathy	biolink:OntologyClass	hp	MSH:D056784|SNOMEDCT_US:22811006|UMLS:C0270612	This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells.	http://purl.obolibrary.org/obo/HP_0002352		
OBO:HP_0002353	EEG abnormality	biolink:OntologyClass	hp	SNOMEDCT_US:274521009|UMLS:C0151611	Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.	http://purl.obolibrary.org/obo/HP_0002353		Abnormal EEG|EEG abnormalities|Abnormal electroencephalogram|Electroencephalogram abnormal|Electroencephalogram abnormalities
OBO:HP_0002354	Memory impairment	biolink:OntologyClass	hp	MSH:D008569|SNOMEDCT_US:386807006|SNOMEDCT_US:55533009|UMLS:C0233794|UMLS:C0542476|UMLS:C0751295	An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.	http://purl.obolibrary.org/obo/HP_0002354		Forgetfulness|Memory impairment|Memory loss|Memory problems|Poor memory
OBO:HP_0002355	Difficulty walking	biolink:OntologyClass	hp	MSH:D051346|SNOMEDCT_US:228158008|UMLS:C0311394	Reduced ability to walk (ambulate).	http://purl.obolibrary.org/obo/HP_0002355		Difficulty in walking|Difficulty walking|Walking disability
OBO:HP_0002356	Writer's cramp	biolink:OntologyClass	hp	MSH:D020821|SNOMEDCT_US:52008007|UMLS:C0154676	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.	http://purl.obolibrary.org/obo/HP_0002356		Writer's cramp
OBO:HP_0002357	Dysphasia	biolink:OntologyClass	hp	MSH:D001037|SNOMEDCT_US:20301004|UMLS:C0973461		http://purl.obolibrary.org/obo/HP_0002357		
OBO:HP_0002359	Frequent falls	biolink:OntologyClass	hp	UMLS:C0850703		http://purl.obolibrary.org/obo/HP_0002359		Frequent falls
OBO:HP_0002360	Sleep disturbance	biolink:OntologyClass	hp	SNOMEDCT_US:53888004|UMLS:C0037317	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.	http://purl.obolibrary.org/obo/HP_0002360		Difficulty sleeping|Trouble sleeping|Sleep disturbances|Sleep dysfunction
OBO:HP_0002361	Psychomotor deterioration	biolink:OntologyClass	hp	UMLS:C1836842	Loss of previously present mental and motor abilities.	http://purl.obolibrary.org/obo/HP_0002361		Psychomotor degeneration
OBO:HP_0002362	Shuffling gait	biolink:OntologyClass	hp	MSH:D020233|SNOMEDCT_US:43005009|UMLS:C0231688	A type of gait (walking) characterized by by dragging one's feet along or without lifting the feet fully from the ground.	http://purl.obolibrary.org/obo/HP_0002362		Shuffled walk
OBO:HP_0002363	Abnormal brainstem morphology	biolink:OntologyClass	hp	UMLS:C1850601	An anomaly of the brainstem.	http://purl.obolibrary.org/obo/HP_0002363		Abnormal shape of brainstem|Abnormality of brainstem morphology|Abnormality of the brainstem
OBO:HP_0002365	Hypoplasia of the brainstem	biolink:OntologyClass	hp	UMLS:C1842688	Underdevelopment of the brainstem.	http://purl.obolibrary.org/obo/HP_0002365		Small brainstem|Underdeveloped brainstem|Brainstem hypoplasia|Hypoplastic brain stem|Hypoplastic brainstem
OBO:HP_0002366	Abnormal lower motor neuron morphology	biolink:OntologyClass	hp	UMLS:C1865412	Any structural anomaly of the lower motor neuron.	http://purl.obolibrary.org/obo/HP_0002366		Lower motor neuron disease|Lower motor neuron manifestations|Lower motor neuron signs
OBO:HP_0002367	Visual hallucinations	biolink:OntologyClass	hp	MSH:D006212|SNOMEDCT_US:64269007|UMLS:C0233763		http://purl.obolibrary.org/obo/HP_0002367		Visual hallucinations
OBO:HP_0002370	Poor coordination	biolink:OntologyClass	hp	UMLS:C0563243		http://purl.obolibrary.org/obo/HP_0002370		Poor coordination
OBO:HP_0002371	Loss of speech	biolink:OntologyClass	hp	UMLS:C0542223		http://purl.obolibrary.org/obo/HP_0002371		Loss of speech
OBO:HP_0002372	Normal interictal EEG	biolink:OntologyClass	hp	UMLS:C1843146	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.	http://purl.obolibrary.org/obo/HP_0002372		
OBO:HP_0002373	Febrile seizure (within the age range of 3 months to 6 years)	biolink:OntologyClass	hp	MSH:D003294|SNOMEDCT_US:41497008|UMLS:C0009952	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.	http://purl.obolibrary.org/obo/HP_0002373		Fever induced seizures|Febrile seizures|Febrile convulsion|Seizures, febrile, in early childhood|Seizures, generalized, associated with fever
OBO:HP_0002374	Diminished movement	biolink:OntologyClass	hp	UMLS:C4025710		http://purl.obolibrary.org/obo/HP_0002374		Diminished movement
OBO:HP_0002375	Hypokinesia	biolink:OntologyClass	hp	MSH:D018476|SNOMEDCT_US:255385008|SNOMEDCT_US:43994002|UMLS:C0086439	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.	http://purl.obolibrary.org/obo/HP_0002375		Decreased muscle movement|Decreased spontaneous movement|Decreased spontaneous movements
OBO:HP_0002376	Developmental regression	biolink:OntologyClass	hp	SNOMEDCT_US:609225004|UMLS:C1836550|UMLS:C1836830|UMLS:C1850493|UMLS:C1855009|UMLS:C1855019|UMLS:C1855996|UMLS:C1857121|UMLS:C1859678	Loss of developmental skills, as manifested by loss of developmental milestones.	http://purl.obolibrary.org/obo/HP_0002376		Loss of developmental milestones|Mental deterioration in childhood|Neurodevelopmental regression|Psychomotor regression|Psychomotor regression beginning in infancy|Psychomotor regression in infants|Psychomotor regression, progressive
OBO:HP_0002377	obsolete Paraganglioma-related cranial nerve palsy	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0002377		
OBO:HP_0002378	Hand tremor	biolink:OntologyClass	hp	UMLS:C0239842	An unintentional, oscillating to-and-fro muscle movement affecting the hand.	http://purl.obolibrary.org/obo/HP_0002378		Hand tremor|Tremor of hand|Tremor of hands|tremors in hands
OBO:HP_0002380	Fasciculations	biolink:OntologyClass	hp	MSH:D005207|SNOMEDCT_US:82470000|UMLS:C0015644	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.	http://purl.obolibrary.org/obo/HP_0002380		Muscle twitch|Fasciculation|Muscle fasciculation
OBO:HP_0002381	Aphasia	biolink:OntologyClass	hp	MSH:D001037|SNOMEDCT_US:87486003|UMLS:C0003537	An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write.	http://purl.obolibrary.org/obo/HP_0002381		Difficulty finding words|Losing words|Loss of words
OBO:HP_0002383	Encephalitis	biolink:OntologyClass	hp	MSH:D004660|SNOMEDCT_US:45170000|UMLS:C0014038		http://purl.obolibrary.org/obo/HP_0002383		Brain inflammation
OBO:HP_0002384	Focal impaired awareness seizure	biolink:OntologyClass	hp	SNOMEDCT_US:4103001|UMLS:C0149958|UMLS:C0270834	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.	http://purl.obolibrary.org/obo/HP_0002384		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
OBO:HP_0002385	Paraparesis	biolink:OntologyClass	hp	MSH:D020335|SNOMEDCT_US:1845001|UMLS:C0221166	Weakness or partial paralysis in the lower limbs.	http://purl.obolibrary.org/obo/HP_0002385		Partial paralysis of legs
OBO:HP_0002389	Cavum septum pellucidum	biolink:OntologyClass	hp	UMLS:C1840380	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.	http://purl.obolibrary.org/obo/HP_0002389		Large cavum septi pellucidi|Persistent cavum septum pellucidum|Widened cavum septum pellucidum
OBO:HP_0002390	Spinal arteriovenous malformation	biolink:OntologyClass	hp	SNOMEDCT_US:261482004|UMLS:C0348023		http://purl.obolibrary.org/obo/HP_0002390		
OBO:HP_0002392	EEG with polyspike wave complexes	biolink:OntologyClass	hp	UMLS:C4021757	The presence of complexes of repetitive spikes and waves in EEG.	http://purl.obolibrary.org/obo/HP_0002392		EEG: spike and multispike waves, 3-4 hz
OBO:HP_0002395	Lower limb hyperreflexia	biolink:OntologyClass	hp	UMLS:C1836696		http://purl.obolibrary.org/obo/HP_0002395		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
OBO:HP_0002396	Cogwheel rigidity	biolink:OntologyClass	hp	MSH:D009127|SNOMEDCT_US:55630000|UMLS:C0151564	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).	http://purl.obolibrary.org/obo/HP_0002396		
OBO:HP_0002398	Degeneration of anterior horn cells	biolink:OntologyClass	hp	UMLS:C1843505		http://purl.obolibrary.org/obo/HP_0002398		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
OBO:HP_0002401	Stroke-like episode	biolink:OntologyClass	hp	UMLS:C1857287	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.	http://purl.obolibrary.org/obo/HP_0002401		Stroke-like episodes|Strokelike episodes
OBO:HP_0002403	Positive Romberg sign	biolink:OntologyClass	hp	SNOMEDCT_US:298310004|UMLS:C0240914	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.	http://purl.obolibrary.org/obo/HP_0002403		
OBO:HP_0002404	Thickened superior cerebellar peduncle	biolink:OntologyClass	hp	UMLS:C4021756	Increased width of the superior cerebellar peduncle.	http://purl.obolibrary.org/obo/HP_0002404		Thick cerebellar peduncles
OBO:HP_0002406	Limb dysmetria	biolink:OntologyClass	hp	UMLS:C1854489|UMLS:C4280577	A type of dysmetria involving the limbs.	http://purl.obolibrary.org/obo/HP_0002406		Uncoordinated limb movement
OBO:HP_0002408	Cerebral arteriovenous malformation	biolink:OntologyClass	hp	Fyler:2201|MSH:D002538|SNOMEDCT_US:234142008|UMLS:C0917804	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.	http://purl.obolibrary.org/obo/HP_0002408		Cerebral AV malformation
OBO:HP_0002410	Aqueductal stenosis	biolink:OntologyClass	hp	MSH:D006849|UMLS:C2936786	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.	http://purl.obolibrary.org/obo/HP_0002410		Aqueduct of Sylvius stenosis|Aqueduct stenosis|Narrowing of aqueduct of Sylvius
OBO:HP_0002411	Myokymia	biolink:OntologyClass	hp	MSH:D020385|SNOMEDCT_US:27678003|UMLS:C0684219	Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle.	http://purl.obolibrary.org/obo/HP_0002411		
OBO:HP_0002414	Spina bifida	biolink:OntologyClass	hp	Fyler:4157|MSH:D016135|SNOMEDCT_US:67531005|UMLS:C0080178	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.	http://purl.obolibrary.org/obo/HP_0002414		Split spine
OBO:HP_0002415	Leukodystrophy	biolink:OntologyClass	hp	SNOMEDCT_US:192781003|UMLS:C0023520	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.	http://purl.obolibrary.org/obo/HP_0002415		Degeneration of white matter of brain
OBO:HP_0002416	Subependymal cysts	biolink:OntologyClass	hp	UMLS:C1833431	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.	http://purl.obolibrary.org/obo/HP_0002416		
OBO:HP_0002418	Abnormality of midbrain morphology	biolink:OntologyClass	hp	UMLS:C4021755	An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct.	http://purl.obolibrary.org/obo/HP_0002418		Abnormal shape of midbrain|Abnormality of the midbrain|Abnormality of the mesencephalon
OBO:HP_0002419	Molar tooth sign on MRI	biolink:OntologyClass	hp	UMLS:C1865060	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.	http://purl.obolibrary.org/obo/HP_0002419		'molar tooth sign' on brain imaging'|'molar tooth' sign on imaging|Molar tooth sign
OBO:HP_0002421	Poor head control	biolink:OntologyClass	hp	UMLS:C1836038	Difficulty to maintain correct position of the head while standing or sitting.	http://purl.obolibrary.org/obo/HP_0002421		Poor head control
OBO:HP_0002423	Long-tract signs	biolink:OntologyClass	hp	UMLS:C1865903		http://purl.obolibrary.org/obo/HP_0002423		Long tract signs
OBO:HP_0002425	Anarthria	biolink:OntologyClass	hp	SNOMEDCT_US:48257004|UMLS:C0234517	A defect in the motor ability that enables speech.	http://purl.obolibrary.org/obo/HP_0002425		Loss of articulate speech
OBO:HP_0002427	Motor aphasia	biolink:OntologyClass	hp	MSH:D001039|SNOMEDCT_US:229654003|SNOMEDCT_US:229665008|SNOMEDCT_US:328681008|UMLS:C0003550|UMLS:C0917814	Impairment of expressive language and relative preservation of receptive language abilities. That is, the patient understands language (speech, writing) but cannot express it.	http://purl.obolibrary.org/obo/HP_0002427		Loss of expressive speech|Broca's aphasia|Expressive aphasia
OBO:HP_0002435	Meningocele	biolink:OntologyClass	hp	MSH:D008588|SNOMEDCT_US:171131006|UMLS:C0025299	Protrusion of the meninges through a defect of the vertebral column.	http://purl.obolibrary.org/obo/HP_0002435		
OBO:HP_0002436	Occipital meningocele	biolink:OntologyClass	hp	SNOMEDCT_US:445468002|UMLS:C1848652	A herniation of meninges through a congenital bone defect in the skull in the occipital region.	http://purl.obolibrary.org/obo/HP_0002436		
OBO:HP_0002438	Cerebellar malformation	biolink:OntologyClass	hp	UMLS:C4025708		http://purl.obolibrary.org/obo/HP_0002438		
OBO:HP_0002439	Frontolimbic dementia	biolink:OntologyClass	hp	UMLS:C1836151		http://purl.obolibrary.org/obo/HP_0002439		
OBO:HP_0002442	Dyscalculia	biolink:OntologyClass	hp	SNOMEDCT_US:47916000|UMLS:C1411876|UMLS:C4280576	A specific learning disability involving mathematics and arithmetic.	http://purl.obolibrary.org/obo/HP_0002442		Difficulty making arithmetical calculations
OBO:HP_0002444	Hypothalamic hamartoma	biolink:OntologyClass	hp	MSH:C537158|SNOMEDCT_US:237714006|UMLS:C0342418	The presence of a hamartoma of the hypothalamus.	http://purl.obolibrary.org/obo/HP_0002444		
OBO:HP_0002445	Tetraplegia	biolink:OntologyClass	hp	MSH:D011782|SNOMEDCT_US:11538006|UMLS:C0034372	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.	http://purl.obolibrary.org/obo/HP_0002445		Paralysis of all four limbs|Quadriplegia
OBO:HP_0002446	Astrocytosis	biolink:OntologyClass	hp	MSH:D005911|SNOMEDCT_US:81415000|UMLS:C3887640	Proliferation of astrocytes in the area of a lesion of the central nervous system.	http://purl.obolibrary.org/obo/HP_0002446		Increase in astrocyte number
OBO:HP_0002448	Progressive encephalopathy	biolink:OntologyClass	hp	UMLS:C1838578|UMLS:C4280575		http://purl.obolibrary.org/obo/HP_0002448		Progressive brain disease
OBO:HP_0002450	Abnormal motor neuron morphology	biolink:OntologyClass	hp	UMLS:C4025707	Any structural anomaly that affects the motor neuron.	http://purl.obolibrary.org/obo/HP_0002450		Abnormal shape of motor neuron
OBO:HP_0002451	Limb dystonia	biolink:OntologyClass	hp	MSH:D004421|UMLS:C0751093	A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs.	http://purl.obolibrary.org/obo/HP_0002451		
OBO:HP_0002453	Abnormal globus pallidus morphology	biolink:OntologyClass	hp	UMLS:C4025706	An abnormality of the globus pallidus.	http://purl.obolibrary.org/obo/HP_0002453		
OBO:HP_0002454	Eye of the tiger anomaly of globus pallidus	biolink:OntologyClass	hp	UMLS:C4025705	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.	http://purl.obolibrary.org/obo/HP_0002454		
OBO:HP_0002457	Abnormal head movements	biolink:OntologyClass	hp	SNOMEDCT_US:271799000|UMLS:C0476217		http://purl.obolibrary.org/obo/HP_0002457		Abnormal head movements
OBO:HP_0002459	obsolete Dysautonomia	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0002459		
OBO:HP_0002460	Distal muscle weakness	biolink:OntologyClass	hp	SNOMEDCT_US:249942005|UMLS:C0427065|UMLS:C1864696	Reduced strength of the musculature of the distal extremities.	http://purl.obolibrary.org/obo/HP_0002460		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
OBO:HP_0002461	Dense calcifications in the cerebellar dentate nucleus	biolink:OntologyClass	hp	UMLS:C1859273		http://purl.obolibrary.org/obo/HP_0002461		
OBO:HP_0002463	Language impairment	biolink:OntologyClass	hp	MSH:D007806|SNOMEDCT_US:62305002|UMLS:C0023015	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.	http://purl.obolibrary.org/obo/HP_0002463		Language impairment|Language disorder
OBO:HP_0002464	Spastic dysarthria	biolink:OntologyClass	hp	MSH:D004401|SNOMEDCT_US:229684006|UMLS:C0454596	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.	http://purl.obolibrary.org/obo/HP_0002464		Rigid dysarthria
OBO:HP_0002465	Poor speech	biolink:OntologyClass	hp	UMLS:C1848207|UMLS:C4280574		http://purl.obolibrary.org/obo/HP_0002465		Problems speaking|Poor speech|Difficulty speaking
OBO:HP_0002470	Nonprogressive cerebellar ataxia	biolink:OntologyClass	hp	UMLS:C1845029		http://purl.obolibrary.org/obo/HP_0002470		
OBO:HP_0002472	Small cerebral cortex	biolink:OntologyClass	hp	UMLS:C1837503	Reduced size of the cerebral cortex.	http://purl.obolibrary.org/obo/HP_0002472		Decreased volume of cerebral cortex
OBO:HP_0002474	Expressive language delay	biolink:OntologyClass	hp	SNOMEDCT_US:229734008|UMLS:C0454641|UMLS:C1847610|UMLS:C4280573	A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.	http://purl.obolibrary.org/obo/HP_0002474		Communication delay|Deficit in expressive language
OBO:HP_0002475	Myelomeningocele	biolink:OntologyClass	hp	Fyler:4309|MSH:D008591|SNOMEDCT_US:203994003|SNOMEDCT_US:414667000|UMLS:C0025312	Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column.	http://purl.obolibrary.org/obo/HP_0002475		Meningomyelocele|Spina bifida cystica
OBO:HP_0002476	Primitive reflex	biolink:OntologyClass	hp	UMLS:C1838319	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.	http://purl.obolibrary.org/obo/HP_0002476		Archaic reflex|Primitive reflexes
OBO:HP_0002478	Progressive spastic quadriplegia	biolink:OntologyClass	hp	UMLS:C1859736		http://purl.obolibrary.org/obo/HP_0002478		Progressive spastic quadriparesis
OBO:HP_0002480	Hepatic encephalopathy	biolink:OntologyClass	hp	MSH:D006501|SNOMEDCT_US:13920009|SNOMEDCT_US:449902003|UMLS:C0019151	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.	http://purl.obolibrary.org/obo/HP_0002480		
OBO:HP_0002483	Bulbar signs	biolink:OntologyClass	hp	UMLS:C1856507		http://purl.obolibrary.org/obo/HP_0002483		
OBO:HP_0002486	Myotonia	biolink:OntologyClass	hp	MSH:D009222|SNOMEDCT_US:3434004|UMLS:C0027125	An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation.	http://purl.obolibrary.org/obo/HP_0002486		Delayed relaxation of muscle fibers after contraction
OBO:HP_0002487	Hyperkinetic movements	biolink:OntologyClass	hp	MSH:D006948|MSH:D013035|SNOMEDCT_US:44548000|SNOMEDCT_US:45352006|UMLS:C0037763|UMLS:C0424295	Motor hyperactivity with excessive movement of muscles of the body as a whole.	http://purl.obolibrary.org/obo/HP_0002487		Muscle spasms|Hyperkinesia|Hyperkinesis
OBO:HP_0002488	Acute leukemia	biolink:OntologyClass	hp	SNOMEDCT_US:24072005|SNOMEDCT_US:91855006|UMLS:C0085669|UMLS:C4280572	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).	http://purl.obolibrary.org/obo/HP_0002488		Acute blood cancer|Acute leukaemia|Acute leukemias
OBO:HP_0002490	Increased CSF lactate	biolink:OntologyClass	hp	UMLS:C1167918	Increased concentration of lactate in the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0002490		Hyperlactatorachia|Increased CSF lactic acid|Increased cerebrospinal fluid lactate
OBO:HP_0002491	Spasticity of facial muscles	biolink:OntologyClass	hp	UMLS:C1853404|UMLS:C4280570|UMLS:C4280571	Spasticity of one or more muscles innervated by the facial nerve.	http://purl.obolibrary.org/obo/HP_0002491		Increased stiffness of facial muscles|Increased tone of facial muscles|Spasticity of the facial muscles
OBO:HP_0002492	Morphological abnormality of the corticospinal tract	biolink:OntologyClass	hp	UMLS:C4020852|UMLS:C4025704	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.	http://purl.obolibrary.org/obo/HP_0002492		Abnormality of the corticospinal tract|Involvement of the corticospinal pathways
OBO:HP_0002493	Upper motor neuron dysfunction	biolink:OntologyClass	hp	UMLS:C1504405|UMLS:C1839042	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.	http://purl.obolibrary.org/obo/HP_0002493		Corticospinal tract dysfunction|Pyramidal tract dysfunction
OBO:HP_0002494	Abnormal rapid eye movement sleep	biolink:OntologyClass	hp	SNOMEDCT_US:69020003|UMLS:C0392188	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.	http://purl.obolibrary.org/obo/HP_0002494		Abnormal REM sleep
OBO:HP_0002495	Impaired vibratory sensation	biolink:OntologyClass	hp	SNOMEDCT_US:130980003|UMLS:C1295585	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.	http://purl.obolibrary.org/obo/HP_0002495		Decreased vibration sense|Decreased vibratory sense|Diminished vibratory sense|Impaired vibratory sensation|Impaired vibratory sense|Hypopallesthesia
OBO:HP_0002497	Spastic ataxia	biolink:OntologyClass	hp	MSH:C564815|UMLS:C1849156		http://purl.obolibrary.org/obo/HP_0002497		
OBO:HP_0002500	Abnormality of the cerebral white matter	biolink:OntologyClass	hp	MSH:D049292|UMLS:C0948163|UMLS:C4020851	An abnormality of the cerebral white matter.	http://purl.obolibrary.org/obo/HP_0002500		Abnormality of subcortical white matter|Cerebral white matter abnormalities|Leukoaraiosis|White matter abnormalities|White matter alterations|Cortical white matter abnormalities seen on MRI
OBO:HP_0002501	Spasticity of pharyngeal muscles	biolink:OntologyClass	hp	UMLS:C1853398		http://purl.obolibrary.org/obo/HP_0002501		
OBO:HP_0002503	Spinocerebellar tract degeneration	biolink:OntologyClass	hp	UMLS:C1866751		http://purl.obolibrary.org/obo/HP_0002503		Degeneration of the spinocerebellar tracts|Spinocerebellar degeneration
OBO:HP_0002504	Calcification of the small brain vessels	biolink:OntologyClass	hp	UMLS:C4025703	Deposition of calcium salts within small blood vessels of the brain.	http://purl.obolibrary.org/obo/HP_0002504		
OBO:HP_0002505	Progressive inability to walk	biolink:OntologyClass	hp	UMLS:C1836843		http://purl.obolibrary.org/obo/HP_0002505		Progressive inability to walk
OBO:HP_0002506	Diffuse cerebral atrophy	biolink:OntologyClass	hp	UMLS:C0598275	Diffuse unlocalised atrophy affecting the cerebrum.	http://purl.obolibrary.org/obo/HP_0002506		Cerebral atrophy, diffuse
OBO:HP_0002507	Semilobar holoprosencephaly	biolink:OntologyClass	hp	MSH:D016142|SNOMEDCT_US:253138008|UMLS:C0751617	A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly.	http://purl.obolibrary.org/obo/HP_0002507		
OBO:HP_0002508	Brainstem dysplasia	biolink:OntologyClass	hp	UMLS:C1855677	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.	http://purl.obolibrary.org/obo/HP_0002508		Brainstem hypoplasia/dysplasia|Malformation of brainstem structures
OBO:HP_0002509	Limb hypertonia	biolink:OntologyClass	hp	UMLS:C1838391		http://purl.obolibrary.org/obo/HP_0002509		Increased muscle tone of arm or leg
OBO:HP_0002510	Spastic tetraplegia	biolink:OntologyClass	hp	MSH:D011782|SNOMEDCT_US:192965001|UMLS:C0426970	Spastic paralysis affecting all four limbs.	http://purl.obolibrary.org/obo/HP_0002510		Spastic quadriplegia
OBO:HP_0002511	Alzheimer disease	biolink:OntologyClass	hp	DOID:10652|MONDO:0004975|MSH:C536595|MSH:D000544|SNOMEDCT_US:230267005|SNOMEDCT_US:26929004|UMLS:C0002395|UMLS:C1863051	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.	http://purl.obolibrary.org/obo/HP_0002511		Alzheimer disease|Late-onset form of familial Alzheimer disease
OBO:HP_0002512	Brain stem compression	biolink:OntologyClass	hp	SNOMEDCT_US:25816005|SNOMEDCT_US:5582005|UMLS:C0270680		http://purl.obolibrary.org/obo/HP_0002512		
OBO:HP_0002514	Cerebral calcification	biolink:OntologyClass	hp	SNOMEDCT_US:17944005|UMLS:C0270685	The presence of calcium deposition within brain structures.	http://purl.obolibrary.org/obo/HP_0002514		Abnormal deposits of calcium in the brain|Brain calcification|Intracerebral calcifications|Intracranial calcification|Intracranial calcifications
OBO:HP_0002515	Waddling gait	biolink:OntologyClass	hp	MSH:D020233|SNOMEDCT_US:271706000|UMLS:C0231712	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.	http://purl.obolibrary.org/obo/HP_0002515		'Waddling' gait|Waddling walk
OBO:HP_0002516	Increased intracranial pressure	biolink:OntologyClass	hp	MSH:D019586|SNOMEDCT_US:271719001|UMLS:C0151740	An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0002516		Rise in pressure inside skull|Intracranial hypertension|Intracranial pressure elevation
OBO:HP_0002518	Abnormality of the periventricular white matter	biolink:OntologyClass	hp	UMLS:C2673431		http://purl.obolibrary.org/obo/HP_0002518		Periventricular white matter abnormalities
OBO:HP_0002519	Hypnagogic hallucinations	biolink:OntologyClass	hp	MSH:D006212|SNOMEDCT_US:44780000|UMLS:C0233773		http://purl.obolibrary.org/obo/HP_0002519		
OBO:HP_0002521	Hypsarrhythmia	biolink:OntologyClass	hp	MSH:D013036|SNOMEDCT_US:28055006|UMLS:C0684276	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).	http://purl.obolibrary.org/obo/HP_0002521		Hypsarrhythmia by EEG
OBO:HP_0002522	Areflexia of lower limbs	biolink:OntologyClass	hp	UMLS:C1856694	Inability to elicit tendon reflexes in the lower limbs.	http://purl.obolibrary.org/obo/HP_0002522		Absent lower limb tendon reflexes|Areflexia in lower limbs|Areflexia of the lower limbs|Areflexia, lower limbs
OBO:HP_0002524	Cataplexy	biolink:OntologyClass	hp	MSH:D002385|SNOMEDCT_US:46263000|UMLS:C0007384	A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions.	http://purl.obolibrary.org/obo/HP_0002524		
OBO:HP_0002526	Deficit in nonword repetition	biolink:OntologyClass	hp	UMLS:C4025702	Impaired ability to repeat non-word sounds. Nonword repetition (NWR) is a measure of short-term phonological memory.	http://purl.obolibrary.org/obo/HP_0002526		
OBO:HP_0002527	Falls	biolink:OntologyClass	hp	SNOMEDCT_US:161898004|SNOMEDCT_US:1912002|UMLS:C0085639		http://purl.obolibrary.org/obo/HP_0002527		Falls
OBO:HP_0002528	Granulovacuolar degeneration	biolink:OntologyClass	hp	SNOMEDCT_US:90506004|UMLS:C0333454	Electron-dense granules within double membrane-bound cytoplasmic vacuoles.	http://purl.obolibrary.org/obo/HP_0002528		
OBO:HP_0002529	Neuronal loss in central nervous system	biolink:OntologyClass	hp	UMLS:C1850496		http://purl.obolibrary.org/obo/HP_0002529		Neuronal loss in CNS|Loss of brain cells|Neuronal loss
OBO:HP_0002530	Axial dystonia	biolink:OntologyClass	hp	UMLS:C1836149	A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles.	http://purl.obolibrary.org/obo/HP_0002530		Truncal dystonia
OBO:HP_0002533	Abnormal posturing	biolink:OntologyClass	hp	SNOMEDCT_US:43029002|UMLS:C0231471	Involuntary flexion or extension of the arms and legs.	http://purl.obolibrary.org/obo/HP_0002533		
OBO:HP_0002536	Abnormal cortical gyration	biolink:OntologyClass	hp	UMLS:C1856019	An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain.	http://purl.obolibrary.org/obo/HP_0002536		Abnormal gyration|Cerebral gyral anomalies
OBO:HP_0002538	Abnormality of the cerebral cortex	biolink:OntologyClass	hp	UMLS:C4025701	An abnormality of the cerebral cortex.	http://purl.obolibrary.org/obo/HP_0002538		
OBO:HP_0002539	Cortical dysplasia	biolink:OntologyClass	hp	MSH:D054220|SNOMEDCT_US:253153000|UMLS:C0431380	The presence of developmental dysplasia of the cerebral cortex.	http://purl.obolibrary.org/obo/HP_0002539		Neocortical dysplasia
OBO:HP_0002540	Inability to walk	biolink:OntologyClass	hp	SNOMEDCT_US:282145008|UMLS:C0560046	Incapability to ambulate.	http://purl.obolibrary.org/obo/HP_0002540		Inability to walk|Non-ambulatory
OBO:HP_0002542	Olivopontocerebellar atrophy	biolink:OntologyClass	hp	MSH:D009849|SNOMEDCT_US:67761004|UMLS:C0028968	Neuronal degeneration in the cerebellum, pontine nuclei, and inferior olivary nucleus.	http://purl.obolibrary.org/obo/HP_0002542		Olivopontocerebellar degeneration
OBO:HP_0002544	Retrocollis	biolink:OntologyClass	hp	UMLS:C3887667	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.	http://purl.obolibrary.org/obo/HP_0002544		
OBO:HP_0002545	Patchy demyelination of subcortical white matter	biolink:OntologyClass	hp	UMLS:C1857638	Patchy loss of myelin from nerve fibers in the central nervous system.	http://purl.obolibrary.org/obo/HP_0002545		
OBO:HP_0002546	Incomprehensible speech	biolink:OntologyClass	hp	UMLS:C1838027		http://purl.obolibrary.org/obo/HP_0002546		Incomprehensible speech
OBO:HP_0002548	Parkinsonism with favorable response to dopaminergic medication	biolink:OntologyClass	hp	UMLS:C1846868	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.	http://purl.obolibrary.org/obo/HP_0002548		Parkinsonism with favourable response to dopaminergic medication|Favorable response to levodopa
OBO:HP_0002549	Deficit in phonologic short-term memory	biolink:OntologyClass	hp	UMLS:C1847609		http://purl.obolibrary.org/obo/HP_0002549		
OBO:HP_0002550	Absent facial hair	biolink:OntologyClass	hp	UMLS:C1848192	Absence of facial hair.	http://purl.obolibrary.org/obo/HP_0002550		Absent facial hair
OBO:HP_0002552	Trichodysplasia	biolink:OntologyClass	hp	UMLS:C4020850|UMLS:C4025700	Developmental dysplasia of the hair.	http://purl.obolibrary.org/obo/HP_0002552		Generalized trichodysplasia
OBO:HP_0002553	Highly arched eyebrow	biolink:OntologyClass	hp	UMLS:C1868571|UMLS:C4020849	Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.	http://purl.obolibrary.org/obo/HP_0002553	hposlim_core	Arched eyebrows|Broad, arched eyebrows|High, rounded eyebrows|High-arched eyebrows|Highly arched eyebrow|Thick, flared eyebrows|Bowed and upward slanting eyebrows|High arched eyebrows
OBO:HP_0002555	Absent pubic hair	biolink:OntologyClass	hp	UMLS:C1859391	Absence of pubic hair.	http://purl.obolibrary.org/obo/HP_0002555	hposlim_core	Absent pubic hair
OBO:HP_0002557	Hypoplastic nipples	biolink:OntologyClass	hp	SNOMEDCT_US:268290005|UMLS:C0432355	Underdevelopment of the nipple.	http://purl.obolibrary.org/obo/HP_0002557		Small nipples|Nipple hypoplasia
OBO:HP_0002558	Supernumerary nipple	biolink:OntologyClass	hp	Fyler:4234|MSH:C562557|SNOMEDCT_US:50956007|UMLS:C0266011	Presence of more than two nipples.	http://purl.obolibrary.org/obo/HP_0002558	hposlim_core	Accessory nipple|Accessory nipples|Increased nipple number|accessory mamilla|Supernumerary nipples|accessory mamillas
OBO:HP_0002561	Absent nipple	biolink:OntologyClass	hp	SNOMEDCT_US:248820000|UMLS:C0425795	Congenital failure to develop, and absence of, the nipple.	http://purl.obolibrary.org/obo/HP_0002561		Absent nipple|Absent nipples|Athelia
OBO:HP_0002562	Low-set nipples	biolink:OntologyClass	hp	UMLS:C1836933	Placement of the nipples at a lower than normal location.	http://purl.obolibrary.org/obo/HP_0002562	hposlim_core	Low-set nipples
OBO:HP_0002563	Constrictive pericarditis	biolink:OntologyClass	hp	MSH:D010494|SNOMEDCT_US:85598007|UMLS:C0031048	Presence of a thickened, fibrotic pericardium that forms a non-compliant shell around the heart, and resulting from chronic inflammation of the pericardium.	http://purl.obolibrary.org/obo/HP_0002563		
OBO:HP_0002564	obsolete Malformation of the heart and great vessels	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0002564		
OBO:HP_0002566	Intestinal malrotation	biolink:OntologyClass	hp	MEDDRA:10064024|MSH:C562456|SNOMEDCT_US:253789002|SNOMEDCT_US:29980002|SNOMEDCT_US:48641006|UMLS:C0221210	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.	http://purl.obolibrary.org/obo/HP_0002566	hposlim_core	Malrotation|Gut malrotation
OBO:HP_0002570	Steatorrhea	biolink:OntologyClass	hp	MSH:D045602|SNOMEDCT_US:27868004|SNOMEDCT_US:66187002|UMLS:C0038238	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.	http://purl.obolibrary.org/obo/HP_0002570		Fat in feces|Fatty stool
OBO:HP_0002571	Achalasia	biolink:OntologyClass	hp	MEDDRA:10030136|MSH:D004931|SNOMEDCT_US:45564002|UMLS:C0014848	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.	http://purl.obolibrary.org/obo/HP_0002571	hposlim_core	Achalasia of the esophagus
OBO:HP_0002572	Episodic vomiting	biolink:OntologyClass	hp	UMLS:C1838993|UMLS:C1857202	Paroxysmal, recurrent episodes of vomiting.	http://purl.obolibrary.org/obo/HP_0002572		Episodic vomiting|Frequent vomiting
OBO:HP_0002573	Hematochezia	biolink:OntologyClass	hp	MSH:D006471|SNOMEDCT_US:236068001|SNOMEDCT_US:405729008|UMLS:C0018932	The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus.	http://purl.obolibrary.org/obo/HP_0002573		Rectal bleeding|Recurrent rectal bleeding
OBO:HP_0002574	Episodic abdominal pain	biolink:OntologyClass	hp	UMLS:C0262527|UMLS:C3808022	An intermittent form of abdominal pain.	http://purl.obolibrary.org/obo/HP_0002574		Intermittent abdominal pain
OBO:HP_0002575	Tracheoesophageal fistula	biolink:OntologyClass	hp	Fyler:4202|MEDDRA:10044310|MSH:D014138|SNOMEDCT_US:95435007|UMLS:C0040588	An abnormal connection (fistula) between the esophagus and the trachea.	http://purl.obolibrary.org/obo/HP_0002575	hposlim_core	Abnormal connection between trachea and esophagus
OBO:HP_0002576	Intussusception	biolink:OntologyClass	hp	MEDDRA:10022863|MSH:D007443|SNOMEDCT_US:35327006|SNOMEDCT_US:49723003|UMLS:C0021933	An abnormality of the intestine in which part of the intestine invaginates (telescopes) into another part of the intestine.	http://purl.obolibrary.org/obo/HP_0002576	hposlim_core	
OBO:HP_0002577	Abnormal stomach morphology	biolink:OntologyClass	hp	UMLS:C4025699	An abnormality of the stomach.	http://purl.obolibrary.org/obo/HP_0002577		Abnormality of the stomach
OBO:HP_0002578	Gastroparesis	biolink:OntologyClass	hp	MSH:D018589|SNOMEDCT_US:196753007|SNOMEDCT_US:235675006|UMLS:C0152020	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.	http://purl.obolibrary.org/obo/HP_0002578	hposlim_core	Delayed gastric emptying
OBO:HP_0002579	Gastrointestinal dysmotility	biolink:OntologyClass	hp	UMLS:C1836923	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.	http://purl.obolibrary.org/obo/HP_0002579	hposlim_core	GI dysmotility
OBO:HP_0002580	Volvulus	biolink:OntologyClass	hp	MSH:D045822|SNOMEDCT_US:90738007|SNOMEDCT_US:9707006|UMLS:C0042961	Abnormal twisting of a portion of intestine around itself or around a stalk of mesentery tissue.	http://purl.obolibrary.org/obo/HP_0002580		
OBO:HP_0002582	Chronic atrophic gastritis	biolink:OntologyClass	hp	MSH:D005757|SNOMEDCT_US:84568007|UMLS:C0017154	A form of chronic gastritis associated with atrophic gastric mucous membrane.	http://purl.obolibrary.org/obo/HP_0002582		
OBO:HP_0002583	Colitis	biolink:OntologyClass	hp	MSH:D003092|SNOMEDCT_US:64226004|UMLS:C0009319	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.	http://purl.obolibrary.org/obo/HP_0002583		
OBO:HP_0002584	Intestinal bleeding	biolink:OntologyClass	hp	SNOMEDCT_US:712510007|UMLS:C0267373	Bleeding from the intestines.	http://purl.obolibrary.org/obo/HP_0002584		Intestinal bleeding|Intestinal hemorrhage
OBO:HP_0002585	Abnormality of the peritoneum	biolink:OntologyClass	hp	UMLS:C4025698	An abnormality of the peritoneum.	http://purl.obolibrary.org/obo/HP_0002585		
OBO:HP_0002586	Peritonitis	biolink:OntologyClass	hp	MSH:D010538|SNOMEDCT_US:48661000|UMLS:C0031154	Inflammation of the peritoneum.	http://purl.obolibrary.org/obo/HP_0002586		Inflammation of the peritoneum
OBO:HP_0002587	Projectile vomiting	biolink:OntologyClass	hp	SNOMEDCT_US:8579004|UMLS:C0221151	Vomiting that ejects the gastric contents with great force.	http://purl.obolibrary.org/obo/HP_0002587		Projectile vomiting
OBO:HP_0002588	Duodenal ulcer	biolink:OntologyClass	hp	MEDDRA:10013836|MSH:D004381|SNOMEDCT_US:367474008|SNOMEDCT_US:51868009|UMLS:C0013295	An erosion of the mucous membrane in a portion of the duodenum.	http://purl.obolibrary.org/obo/HP_0002588	hposlim_core	
OBO:HP_0002589	Gastrointestinal atresia	biolink:OntologyClass	hp	UMLS:C4025697		http://purl.obolibrary.org/obo/HP_0002589		GI atresia
OBO:HP_0002590	Paralytic ileus	biolink:OntologyClass	hp	MSH:D007418|SNOMEDCT_US:55525008|UMLS:C0030446		http://purl.obolibrary.org/obo/HP_0002590		
OBO:HP_0002591	Polyphagia	biolink:OntologyClass	hp	MSH:D006963|SNOMEDCT_US:267023007|SNOMEDCT_US:58424009|SNOMEDCT_US:72405004|UMLS:C0020505|UMLS:C0232461	A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat.	http://purl.obolibrary.org/obo/HP_0002591		Voracious appetite|Increased appetite|Hyperphagia
OBO:HP_0002592	Gastric ulcer	biolink:OntologyClass	hp	MEDDRA:10017822|MSH:D013276|SNOMEDCT_US:397825006|UMLS:C0038358	An ulcer, that is, an erosion of an area of the gastric mucous membrane.	http://purl.obolibrary.org/obo/HP_0002592	hposlim_core	Stomach ulcer
OBO:HP_0002593	Intestinal lymphangiectasia	biolink:OntologyClass	hp	MSH:D008201|SNOMEDCT_US:197260007|UMLS:C0024215	Angiectasia of lymph vessels (i.e., dilatation of lymphatic vessels) in the intestines.	http://purl.obolibrary.org/obo/HP_0002593		
OBO:HP_0002594	Pancreatic hypoplasia	biolink:OntologyClass	hp	SNOMEDCT_US:68591005|UMLS:C0266267	Hypoplasia of the pancreas.	http://purl.obolibrary.org/obo/HP_0002594		Underdeveloped pancreas|Hypoplastic pancreas
OBO:HP_0002595	Ileus	biolink:OntologyClass	hp	MEDDRA:10021328|MSH:D045823|UMLS:C1258215	Acute obstruction of the intestines preventing passage of the contents of the intestines.	http://purl.obolibrary.org/obo/HP_0002595	hposlim_core	Gastrointestinal atony
OBO:HP_0002597	Abnormality of the vasculature	biolink:OntologyClass	hp	UMLS:C0241657	An abnormality of the vasculature.	http://purl.obolibrary.org/obo/HP_0002597		Abnormality of blood vessels|Abnormality of the vasculature|Vascular abnormalities
OBO:HP_0002599	Head titubation	biolink:OntologyClass	hp	UMLS:C1608410	A head tremor of moderate speed (3 to 4 Hz) in the anterior-posterior direction.	http://purl.obolibrary.org/obo/HP_0002599		
OBO:HP_0002600	Hyporeflexia of lower limbs	biolink:OntologyClass	hp	UMLS:C1834696	Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping.	http://purl.obolibrary.org/obo/HP_0002600		Hyporeflexia in lower limbs|Hyporeflexia of the lower limbs|Hyporeflexia, lower limbs|Hyporeflexia/areflexia in lower limbs
OBO:HP_0002601	Paresis of extensor muscles of the big toe	biolink:OntologyClass	hp	UMLS:C4025696		http://purl.obolibrary.org/obo/HP_0002601		
OBO:HP_0002604	Gastrointestinal telangiectasia	biolink:OntologyClass	hp	UMLS:C1619711	Telangiectasia affecting the gastrointestinal tract.	http://purl.obolibrary.org/obo/HP_0002604		GI telangiectasia|Small, enlarged blood vessels near skin
OBO:HP_0002605	Hepatic necrosis	biolink:OntologyClass	hp	SNOMEDCT_US:87248009|UMLS:C0151798	The presence of cell death (necrosis) affecting the liver.	http://purl.obolibrary.org/obo/HP_0002605		
OBO:HP_0002607	Bowel incontinence	biolink:OntologyClass	hp	MSH:D005242|SNOMEDCT_US:72042002|UMLS:C0015732	Involuntary fecal soiling in adults and children who have usually already been toilet trained.	http://purl.obolibrary.org/obo/HP_0002607		Loss of bowel control|Anal incontinence|Fecal incontinence
OBO:HP_0002608	Celiac disease	biolink:OntologyClass	hp	MSH:D002446|SNOMEDCT_US:396331005|UMLS:C0007570	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.	http://purl.obolibrary.org/obo/HP_0002608		Celiac disease|Coeliac disease|Celiac sprue
OBO:HP_0002611	Cholestatic liver disease	biolink:OntologyClass	hp	UMLS:C0860204		http://purl.obolibrary.org/obo/HP_0002611		
OBO:HP_0002612	Congenital hepatic fibrosis	biolink:OntologyClass	hp	MSH:C562378|SNOMEDCT_US:79607001|UMLS:C0009714	The presence of fibrosis of that part of the liver with congenital onset.	http://purl.obolibrary.org/obo/HP_0002612		Excessive buildup of connective tissue and scarring of liver at birth|Congenital liver fibrosis
OBO:HP_0002613	Biliary cirrhosis	biolink:OntologyClass	hp	MSH:D008105|SNOMEDCT_US:1761006|SNOMEDCT_US:31712002|UMLS:C0008312|UMLS:C0023892	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.	http://purl.obolibrary.org/obo/HP_0002613		Primary biliary cirrhosis
OBO:HP_0002614	Hepatic periportal necrosis	biolink:OntologyClass	hp	UMLS:C0546389	A type of hepatic necrosis that is concentrated around the necrosis of hepatocytes localized around the intrahepatic branch of portal vein.	http://purl.obolibrary.org/obo/HP_0002614		
OBO:HP_0002615	Hypotension	biolink:OntologyClass	hp	MSH:D007022|SNOMEDCT_US:45007003|UMLS:C0020649	Low Blood Pressure, vascular hypotension.	http://purl.obolibrary.org/obo/HP_0002615		Low blood pressure|Arterial hypotension
OBO:HP_0002616	Aortic root aneurysm	biolink:OntologyClass	hp	SNOMEDCT_US:251036003|UMLS:C0238669	An abnormal localized widening (dilatation) of the aortic root.	http://purl.obolibrary.org/obo/HP_0002616		Bulge in wall of root of large artery that carries blood away from heart|Aortic root dilatation|Increased aortic root diameter
OBO:HP_0002617	Vascular dilatation	biolink:OntologyClass	hp	Fyler:2399|MSH:D000783|SNOMEDCT_US:432119003|SNOMEDCT_US:85659009|UMLS:C0002940|UMLS:C4020848	Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart.	http://purl.obolibrary.org/obo/HP_0002617		Wider than typical opening or gap|Aneurysm|Aneurysms|Aneurysmal disease|Aneurysmal dilatation
OBO:HP_0002619	Varicose veins	biolink:OntologyClass	hp	MSH:D014648|SNOMEDCT_US:128060009|SNOMEDCT_US:12856003|SNOMEDCT_US:399989005|UMLS:C0042345	Enlarged and tortuous veins.	http://purl.obolibrary.org/obo/HP_0002619		
OBO:HP_0002621	Atherosclerosis	biolink:OntologyClass	hp	MSH:D050197|SNOMEDCT_US:38716007|UMLS:C0004153|UMLS:C4280569	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.	http://purl.obolibrary.org/obo/HP_0002621		Plaque build-up in arteries|Narrowing and hardening of arteries|Atherosclerotic cardiovascular disease
OBO:HP_0002622	obsolete Dissecting aortic dilatation	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0002622		
OBO:HP_0002623	Overriding aorta	biolink:OntologyClass	hp	Fyler:1432|SNOMEDCT_US:63934006|UMLS:C0011818|UMLS:C0265886	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.	http://purl.obolibrary.org/obo/HP_0002623		Dextroposition of aorta|Overriding aortic valve
OBO:HP_0002624	Abnormal venous morphology	biolink:OntologyClass	hp	UMLS:C0241665	An anomaly of vein.	http://purl.obolibrary.org/obo/HP_0002624		Abnormal vein|Venous abnormality
OBO:HP_0002625	Deep venous thrombosis	biolink:OntologyClass	hp	MSH:D020246|SNOMEDCT_US:128053003|UMLS:C0149871	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.	http://purl.obolibrary.org/obo/HP_0002625		Blood clot in a deep vein|Deep vein thrombosis|Multiple deep venous thrombosis
OBO:HP_0002626	Venous varicosities of celiac and mesenteric vessels	biolink:OntologyClass	hp	UMLS:C1857692	Elongated and tortuous mesenteric veins, which comprise the inferior mesenteric vein and the superior mesenteric vein.	http://purl.obolibrary.org/obo/HP_0002626		Venous varicosities of coeliac and mesenteric vessels
OBO:HP_0002627	Right aortic arch with mirror image branching	biolink:OntologyClass	hp	UMLS:C4025695	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.	http://purl.obolibrary.org/obo/HP_0002627		
OBO:HP_0002629	Gastrointestinal arteriovenous malformation	biolink:OntologyClass	hp	UMLS:C0744321	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.	http://purl.obolibrary.org/obo/HP_0002629		GI arteriovenous malformation
OBO:HP_0002630	Fat malabsorption	biolink:OntologyClass	hp	SNOMEDCT_US:197494007|UMLS:C0554103	Abnormality of the absorption of fat from the gastrointestinal tract.	http://purl.obolibrary.org/obo/HP_0002630		
OBO:HP_0002631	obsolete Dilatation of ascending aorta	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0002631		
OBO:HP_0002632	Low-to-normal blood pressure	biolink:OntologyClass	hp	UMLS:C1866500		http://purl.obolibrary.org/obo/HP_0002632		Low-to-normal BP|Low-to-normal blood pressure
OBO:HP_0002633	Vasculitis	biolink:OntologyClass	hp	MSH:D014657|SNOMEDCT_US:31996006|UMLS:C0042384	Inflammation of blood vessel.	http://purl.obolibrary.org/obo/HP_0002633		Inflammation of blood vessel|Angiitis
OBO:HP_0002634	Arteriosclerosis	biolink:OntologyClass	hp	MSH:D001161|SNOMEDCT_US:107671003|SNOMEDCT_US:28960008|SNOMEDCT_US:72092001|UMLS:C0003850|UMLS:C4280568	Sclerosis (hardening) of the arteries with increased thickness of the wall of arteries as well as increased stiffness and a loss of elasticity.	http://purl.obolibrary.org/obo/HP_0002634		Hardened artery wall
OBO:HP_0002635	Type IV atherosclerotic lesion	biolink:OntologyClass	hp	MSH:D050197|SNOMEDCT_US:38716007|UMLS:C0004153	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.	http://purl.obolibrary.org/obo/HP_0002635		Atheromatosis
OBO:HP_0002636	Dilatation of an abdominal artery	biolink:OntologyClass	hp	UMLS:C4025694	Abnormal outpouching or sac-like dilatation in an artery that originates from he abdominal aorta.	http://purl.obolibrary.org/obo/HP_0002636		Aneurysm of an abdominal artery
OBO:HP_0002637	Cerebral ischemia	biolink:OntologyClass	hp	MSH:D002545|SNOMEDCT_US:287731003|SNOMEDCT_US:389100007|UMLS:C0007786|UMLS:C0917798		http://purl.obolibrary.org/obo/HP_0002637		Disruption of blood oxygen supply to brain|Brain ischemia|Cerebrovascular ischemia
OBO:HP_0002638	Superficial thrombophlebitis	biolink:OntologyClass	hp	SNOMEDCT_US:2477008|UMLS:C1510431	Inflammation of a superficial vein associated with venous thrombosis (blood clot formation within the vein).	http://purl.obolibrary.org/obo/HP_0002638		
OBO:HP_0002639	Budd-Chiari syndrome	biolink:OntologyClass	hp	MSH:D006502|SNOMEDCT_US:82385007|UMLS:C0856761	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.	http://purl.obolibrary.org/obo/HP_0002639		
OBO:HP_0002640	Hypertension associated with pheochromocytoma	biolink:OntologyClass	hp	UMLS:C4025693	A type of hypertension associated with pheochromocytoma.	http://purl.obolibrary.org/obo/HP_0002640		
OBO:HP_0002641	Peripheral thrombosis	biolink:OntologyClass	hp	UMLS:C1849749		http://purl.obolibrary.org/obo/HP_0002641		Peripheral blood clot
OBO:HP_0002642	Arteriovenous fistulas of celiac and mesenteric vessels	biolink:OntologyClass	hp	UMLS:C1857693		http://purl.obolibrary.org/obo/HP_0002642		Arteriovenous fistulas of coeliac and mesenteric vessels
OBO:HP_0002643	Neonatal respiratory distress	biolink:OntologyClass	hp	UMLS:C0852283	Respiratory difficulty as newborn.	http://purl.obolibrary.org/obo/HP_0002643		Infantile respiratory distress|Neonatal respiratory distress|Newborn respiratory distress|Respiratory distress, neonatal
OBO:HP_0002644	Abnormality of pelvic girdle bone morphology	biolink:OntologyClass	hp	UMLS:C4020847	An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs.	http://purl.obolibrary.org/obo/HP_0002644		Abnormal shape of pelvic girdle bone|Abnormality of the pelvic girdle
OBO:HP_0002645	Wormian bones	biolink:OntologyClass	hp	SNOMEDCT_US:113194005|UMLS:C0222716	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.	http://purl.obolibrary.org/obo/HP_0002645	hposlim_core	Extra bones within cranial sutures|Intra sutural bones|Intrasutural bones|Islands of bone within cranial sutures
OBO:HP_0002647	Aortic dissection	biolink:OntologyClass	hp	SNOMEDCT_US:308546005|UMLS:C0340643	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.	http://purl.obolibrary.org/obo/HP_0002647		Tear in inner wall of large artery that carries blood away from heart
OBO:HP_0002648	Abnormality of calvarial morphology	biolink:OntologyClass	hp	UMLS:C4025692|UMLS:C4280260	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.	http://purl.obolibrary.org/obo/HP_0002648		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
OBO:HP_0002650	Scoliosis	biolink:OntologyClass	hp	Fyler:4160|MSH:D013121|SNOMEDCT_US:111266001|SNOMEDCT_US:64217002|UMLS:C0037932|UMLS:C0700208	The presence of an abnormal lateral curvature of the spine.	http://purl.obolibrary.org/obo/HP_0002650	hposlim_core	
OBO:HP_0002651	Spondyloepimetaphyseal dysplasia	biolink:OntologyClass	hp	SNOMEDCT_US:254062008|UMLS:C0432211		http://purl.obolibrary.org/obo/HP_0002651		
OBO:HP_0002652	Skeletal dysplasia	biolink:OntologyClass	hp	MSH:D010009|SNOMEDCT_US:105985007|SNOMEDCT_US:240190009|UMLS:C0029422|UMLS:C4280567	A general term describing features characterized by abnormal development of bones and connective tissues.	http://purl.obolibrary.org/obo/HP_0002652		Abnormal skeletal development
OBO:HP_0002653	Bone pain	biolink:OntologyClass	hp	SNOMEDCT_US:12584003|UMLS:C0151825	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.	http://purl.obolibrary.org/obo/HP_0002653		Bone pain
OBO:HP_0002654	Multiple epiphyseal dysplasia	biolink:OntologyClass	hp	MSH:D010009|SNOMEDCT_US:59708000|UMLS:C0026760		http://purl.obolibrary.org/obo/HP_0002654		
OBO:HP_0002655	Spondyloepiphyseal dysplasia	biolink:OntologyClass	hp	MSH:D010009|UMLS:C0038015	A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses).	http://purl.obolibrary.org/obo/HP_0002655		Spondyloepiphyseal dysplasia tarda
OBO:HP_0002656	Epiphyseal dysplasia	biolink:OntologyClass	hp	SNOMEDCT_US:254080004|UMLS:C0392476|UMLS:C4280566		http://purl.obolibrary.org/obo/HP_0002656		Abnormal development of end part of bone|Abnormal development of the ends of long bones in arms and legs
OBO:HP_0002657	Spondylometaphyseal dysplasia	biolink:OntologyClass	hp	MSH:C537501|SNOMEDCT_US:702350003|UMLS:C0700635		http://purl.obolibrary.org/obo/HP_0002657		
OBO:HP_0002659	Increased susceptibility to fractures	biolink:OntologyClass	hp	UMLS:C1390474	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.	http://purl.obolibrary.org/obo/HP_0002659		Abnormal susceptibility to fractures|Bone fragility|Frequent broken bones|Increased bone fragility|Increased susceptibility to fractures|Increased tendency to fractures
OBO:HP_0002661	Painless fractures due to injury	biolink:OntologyClass	hp	UMLS:C1837602	An increased tendency to fractures following trauma, with fractures occurring without pain.	http://purl.obolibrary.org/obo/HP_0002661		Painless fractures due to injury
OBO:HP_0002663	Delayed epiphyseal ossification	biolink:OntologyClass	hp	UMLS:C1865200|UMLS:C4280565		http://purl.obolibrary.org/obo/HP_0002663		Delayed maturation of end part of long bone|Delayed epiphyseal maturation|Delayed epiphyseal ossification|Delayed opacification of the epiphyses|Epiphyseal ossification delay
OBO:HP_0002664	Neoplasm	biolink:OntologyClass	hp	MSH:D009369|NCIT:C3262|SNOMEDCT_US:108369006|SNOMEDCT_US:363346000|UMLS:C0006826|UMLS:C0027651	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).	http://purl.obolibrary.org/obo/HP_0002664		Abnormal tissue mass|Cancer|Neoplasia|Oncological abnormality|Tumor|Tumour|Oncology
OBO:HP_0002665	Lymphoma	biolink:OntologyClass	hp	MSH:D008223|NCIT:C7065|SNOMEDCT_US:115244002|SNOMEDCT_US:118600007|SNOMEDCT_US:188676008|SNOMEDCT_US:21964009|UMLS:C0024299	A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells.	http://purl.obolibrary.org/obo/HP_0002665		Cancer of lymphatic system
OBO:HP_0002666	Pheochromocytoma	biolink:OntologyClass	hp	MSH:D010673|NCIT:C3326|SNOMEDCT_US:302835009|SNOMEDCT_US:399343007|SNOMEDCT_US:85583005|UMLS:C0031511	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.	http://purl.obolibrary.org/obo/HP_0002666		Chromaffin tumors
OBO:HP_0002667	Nephroblastoma	biolink:OntologyClass	hp	MSH:D009396|NCIT:C40407|SNOMEDCT_US:25081006|SNOMEDCT_US:302849000|UMLS:C0027708	The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children.	http://purl.obolibrary.org/obo/HP_0002667		Wilm's tumor|Wilms tumor
OBO:HP_0002668	Paraganglioma	biolink:OntologyClass	hp	MSH:D010235|NCIT:C3308|SNOMEDCT_US:127027008|SNOMEDCT_US:253029009|SNOMEDCT_US:302833002|SNOMEDCT_US:72787006|SNOMEDCT_US:803009|UMLS:C0030421	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.	http://purl.obolibrary.org/obo/HP_0002668		Carotid body tumors|Paragangliomas
OBO:HP_0002669	Osteosarcoma	biolink:OntologyClass	hp	MSH:D012516|NCIT:C9145|SNOMEDCT_US:21708004|SNOMEDCT_US:307576001|UMLS:C0029463	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.	http://purl.obolibrary.org/obo/HP_0002669		Bone cell cancer|Osteogenic sarcoma
OBO:HP_0002671	Basal cell carcinoma	biolink:OntologyClass	hp	MSH:D002280|NCIT:C2921|SNOMEDCT_US:1338007|SNOMEDCT_US:254701007|SNOMEDCT_US:275265005|UMLS:C0007117|UMLS:C1862314	The presence of a basal cell carcinoma of the skin.	http://purl.obolibrary.org/obo/HP_0002671		Basal cell carcinomas|Basal cell epithelioma|Basal cell nevus|Basalioma
OBO:HP_0002672	Gastrointestinal carcinoma	biolink:OntologyClass	hp	UMLS:C0151544		http://purl.obolibrary.org/obo/HP_0002672		GI carcinoma
OBO:HP_0002673	Coxa valga	biolink:OntologyClass	hp	MSH:D060906|SNOMEDCT_US:299236004|UMLS:C0239137|UMLS:C3549698	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).	http://purl.obolibrary.org/obo/HP_0002673		Coxa valga deformity
OBO:HP_0002676	Cloverleaf skull	biolink:OntologyClass	hp	UMLS:C1860050|UMLS:C4280564	Trilobar skull configuration when viewed from the front or behind.	http://purl.obolibrary.org/obo/HP_0002676	hposlim_core	Cloverleaf cranium shape|Cloverleaf skull shape|Trilobar cranium shape|Trilobar skull shape|Kleeblattschaedel
OBO:HP_0002677	Small foramen magnum	biolink:OntologyClass	hp	SNOMEDCT_US:444879009|UMLS:C1535953|UMLS:C1861217|UMLS:C4072838	An abnormal narrowing of the foramen magnum.	http://purl.obolibrary.org/obo/HP_0002677	hposlim_core	Little foramen magnum|Narrow foramen magnum|Foramen magnum stenosis|Hypoplasia of foramen magnum|Stenosis of foramen magnum
OBO:HP_0002678	Skull asymmetry	biolink:OntologyClass	hp	SNOMEDCT_US:248372000|UMLS:C0424690|UMLS:C4280562|UMLS:C4280563		http://purl.obolibrary.org/obo/HP_0002678		Abnormality of skull shape|Unequal skull shape|Uneven skull shape|Asymmetry of skull|Skull asymmetry|Malformation of skull shape
OBO:HP_0002679	Abnormality of the sella turcica	biolink:OntologyClass	hp	UMLS:C4021754|UMLS:C4072839	Abnormality of the sella turcica, a saddle-shaped depression in the sphenoid bone at the base of the human skull.	http://purl.obolibrary.org/obo/HP_0002679	hposlim_core	Anomaly of the sella turcica|Abnormality of the hypophysial fossa|Abnormality of the pituitary fossa|Anomaly of the hypophysial fossa|Anomaly of the pituitary fossa
OBO:HP_0002680	J-shaped sella turcica	biolink:OntologyClass	hp	UMLS:C1854718|UMLS:C4072841|UMLS:C4072842	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.	http://purl.obolibrary.org/obo/HP_0002680	hposlim_core	Hour glass shaped hypophysial fossa|Hour glass shaped pituitary fossa|Hour glass shaped sella turcica|J-shaped sella|Omega shaped sella turcica|J-shaped hypophysial fossa|J-shaped pituitary fossa|Omega shaped hypophysial fossa|Omega shaped pituitary fossa
OBO:HP_0002681	Deformed sella turcica	biolink:OntologyClass	hp	UMLS:C1846437		http://purl.obolibrary.org/obo/HP_0002681		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
OBO:HP_0002682	Broad skull	biolink:OntologyClass	hp	SNOMEDCT_US:248374004|UMLS:C0424693	Increased width of the skull.	http://purl.obolibrary.org/obo/HP_0002682		Broad skull|Increased width of skull|Wide skull|Broad cranium|Increased width of cranium|Wide cranium
OBO:HP_0002683	Abnormality of the calvaria	biolink:OntologyClass	hp	UMLS:C4025691|UMLS:C4280561	Abnormality of the calvaria, which is the roof of the skull formed by the frontal bone, parietal bones, and occipital bone.	http://purl.obolibrary.org/obo/HP_0002683		Abnormality of cranium|Abnormality of the skull cap|Abnormality of the skullcap|Abnormality of calvarium|Abnormality of cranial vault
OBO:HP_0002684	Thickened calvaria	biolink:OntologyClass	hp	UMLS:C1858452|UMLS:C4280560	The presence of an abnormally thick calvaria.	http://purl.obolibrary.org/obo/HP_0002684		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
OBO:HP_0002686	Prenatal maternal abnormality	biolink:OntologyClass	hp	UMLS:C4025690		http://purl.obolibrary.org/obo/HP_0002686		Maternal health problem
OBO:HP_0002687	Abnormality of frontal sinus	biolink:OntologyClass	hp	UMLS:C4025689	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.	http://purl.obolibrary.org/obo/HP_0002687		Abnormality of the forehead sinus|Abnormality of sinus frontalis
OBO:HP_0002688	Absent frontal sinuses	biolink:OntologyClass	hp	UMLS:C1855669|UMLS:C4280559	Aplasia of frontal sinus.	http://purl.obolibrary.org/obo/HP_0002688	hposlim_core	Absence of frontal sinuses|Absent frontal sinus|Missing frontal sinus|Aplasia of frontal sinus|Aplasia sinus frontalis
OBO:HP_0002689	Absent paranasal sinuses	biolink:OntologyClass	hp	UMLS:C1857131|UMLS:C3804986|UMLS:C4072844	Aplasia of the paranasal sinuses.	http://purl.obolibrary.org/obo/HP_0002689		Missing sinuses|Missing paranasal sinuses|Absence of paranasal sinuses|Aplasia of paranasal sinuses
OBO:HP_0002690	Large sella turcica	biolink:OntologyClass	hp	UMLS:C1843677|UMLS:C4072845|UMLS:C4072846	An abnormal enlargement of the sella turcica.	http://purl.obolibrary.org/obo/HP_0002690	hposlim_core	Big sella turcica|Large hypophysial fossa|Large pituitary fossa|Enlarged sella turcica|Hyperplasia of sella turcica|Prominent sella turcica|Hyperplasia of hypophysial fossa|Hyperplasia of pituitary fossa
OBO:HP_0002691	Platybasia	biolink:OntologyClass	hp	MSH:D010985|SNOMEDCT_US:86587003|UMLS:C0032209	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.	http://purl.obolibrary.org/obo/HP_0002691	hposlim_core	Flattening of the skull base|Increased basal angle of skull base|Obtuse basal angle of skull base
OBO:HP_0002692	Hypoplastic facial bones	biolink:OntologyClass	hp	UMLS:C1846438|UMLS:C4229090|UMLS:C4280268|UMLS:C4280557|UMLS:C4280558		http://purl.obolibrary.org/obo/HP_0002692		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
OBO:HP_0002693	Abnormality of the skull base	biolink:OntologyClass	hp	UMLS:C4025688	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.	http://purl.obolibrary.org/obo/HP_0002693		Abnormality of the skull base|Abnormality of cranial base
OBO:HP_0002694	Sclerosis of skull base	biolink:OntologyClass	hp	UMLS:C1851714|UMLS:C4072847|UMLS:C4072848	Increased bone density of the skull base without significant changes in bony contour.	http://purl.obolibrary.org/obo/HP_0002694		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
OBO:HP_0002695	Symmetrical, oval parietal bone defects	biolink:OntologyClass	hp	UMLS:C1865045		http://purl.obolibrary.org/obo/HP_0002695		Symmetrical, oval defects in the parietal bone
OBO:HP_0002696	Abnormal parietal bone morphology	biolink:OntologyClass	hp	UMLS:C4021834	Any abnormality of the parietal bone of the skull.	http://purl.obolibrary.org/obo/HP_0002696		Abnormality of the parietal bone|Abnormality of the parietal bone of skull
OBO:HP_0002697	Parietal foramina	biolink:OntologyClass	hp	SNOMEDCT_US:11240000|SNOMEDCT_US:29307005|UMLS:C0222706|UMLS:C4280556	The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide.	http://purl.obolibrary.org/obo/HP_0002697		Holes in parietal bones|Openings in parietal bones|Persistent foramina of the parietal bones
OBO:HP_0002699	Abnormality of the foramen magnum	biolink:OntologyClass	hp	UMLS:C4025687	Any abnormality of the foramen magnum.	http://purl.obolibrary.org/obo/HP_0002699	hposlim_core	
OBO:HP_0002700	Large foramen magnum	biolink:OntologyClass	hp	UMLS:C1844508|UMLS:C4073291|UMLS:C4280554|UMLS:C4280555	An abnormal increase in the size of the foramen magnum.	http://purl.obolibrary.org/obo/HP_0002700	hposlim_core	Big foramen magnum|Dilation of foramen magnum|Wide foramen magnum|enlarged foramen magnum|Hyperplasia of foramen magnum|Increased circumference of foramen magnum|Increased diameter of foramen magnum
OBO:HP_0002703	Abnormality of skull ossification	biolink:OntologyClass	hp	UMLS:C4025686|UMLS:C4280550|UMLS:C4280551|UMLS:C4280552|UMLS:C4280553	An abnormality of the process of ossification of the skull.	http://purl.obolibrary.org/obo/HP_0002703		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
OBO:HP_0002705	High, narrow palate	biolink:OntologyClass	hp	UMLS:C1837404	The presence of a high and narrow palate.	http://purl.obolibrary.org/obo/HP_0002705		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
OBO:HP_0002707	Palate telangiectasia	biolink:OntologyClass	hp	UMLS:C1857699|UMLS:C4280267	The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the palate.	http://purl.obolibrary.org/obo/HP_0002707		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
OBO:HP_0002708	Prominent median palatal raphe	biolink:OntologyClass	hp	UMLS:C1845108	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.	http://purl.obolibrary.org/obo/HP_0002708		Prominent central ridge on roof of the mouth|Prominent central palatal ridge|Prominent medial palatal suture
OBO:HP_0002710	Commissural lip pit	biolink:OntologyClass	hp	UMLS:C0399605	A depression located at an oral commissure.	http://purl.obolibrary.org/obo/HP_0002710	hposlim_core	Lip pits at corners of the mouth|Pits at the corners of the lips|Commissural labial pits|Commissural pit
OBO:HP_0002711	Exaggerated median tongue furrow	biolink:OntologyClass	hp	UMLS:C1845109	Increased depth of the median tongue furrow.	http://purl.obolibrary.org/obo/HP_0002711		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
OBO:HP_0002714	Downturned corners of mouth	biolink:OntologyClass	hp	UMLS:C1866195	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.	http://purl.obolibrary.org/obo/HP_0002714	hposlim_core	Downturned corners of mouth|Downturned corners of the mouth|Downturned mouth|Downturned oral commisures
OBO:HP_0002715	Abnormality of the immune system	biolink:OntologyClass	hp	UMLS:C4021753	An abnormality of the immune system.	http://purl.obolibrary.org/obo/HP_0002715		Abnormality of the immune system|Immunological abnormality
OBO:HP_0002716	Lymphadenopathy	biolink:OntologyClass	hp	MSH:D000072281|SNOMEDCT_US:30746006|UMLS:C0497156	Enlargment (swelling) of a lymph node.	http://purl.obolibrary.org/obo/HP_0002716		Swollen lymph nodes|Lymph node hyperplasia
OBO:HP_0002717	Adrenal overactivity	biolink:OntologyClass	hp	UMLS:C4025685		http://purl.obolibrary.org/obo/HP_0002717		
OBO:HP_0002718	Recurrent bacterial infections	biolink:OntologyClass	hp	SNOMEDCT_US:428875002|UMLS:C1844383|UMLS:C2748958|UMLS:C4020846	Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.	http://purl.obolibrary.org/obo/HP_0002718		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
OBO:HP_0002719	Recurrent infections	biolink:OntologyClass	hp	UMLS:C0239998	Increased susceptibility to infections.	http://purl.obolibrary.org/obo/HP_0002719		Frequent infections|Frequent, severe infections|Increased frequency of infection|Predisposition to infections|Recurrent infections|Susceptibility to infection|infections, recurrent
OBO:HP_0002720	Decreased circulating IgA level	biolink:OntologyClass	hp	MSH:D017098|SNOMEDCT_US:29260007|UMLS:C0162538	Decreased levels of immunoglobulin A (IgA).	http://purl.obolibrary.org/obo/HP_0002720		Decreased IgA|Decreased immunoglobulin A|Gamma-A globulin deficiency|IgA deficiency|Low levels of immunoglobulin A|Reduced IgA levels
OBO:HP_0002721	Immunodeficiency	biolink:OntologyClass	hp	MSH:D007153|SNOMEDCT_US:234532001|UMLS:C0021051	Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.	http://purl.obolibrary.org/obo/HP_0002721		Decreased immune function|Immune deficiency
OBO:HP_0002722	Recurrent abscess formation	biolink:OntologyClass	hp	UMLS:C4025684	An increased susceptibility to abscess formation, as manifested by a medical history of recurrent abscesses.	http://purl.obolibrary.org/obo/HP_0002722		
OBO:HP_0002723	Absence of bactericidal oxidative respiratory burst in phagocytes	biolink:OntologyClass	hp	UMLS:C1844385	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.	http://purl.obolibrary.org/obo/HP_0002723		
OBO:HP_0002724	Recurrent Aspergillus infections	biolink:OntologyClass	hp	UMLS:C4021752	An increased susceptibility to Aspergillus infections, as manifested by a history of recurrent episodes of Aspergillus infections.	http://purl.obolibrary.org/obo/HP_0002724		Aspergillus infections, recurrent
OBO:HP_0002725	Systemic lupus erythematosus	biolink:OntologyClass	hp	MSH:D008180|SNOMEDCT_US:55464009|UMLS:C0024141	A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes.	http://purl.obolibrary.org/obo/HP_0002725		SLE
OBO:HP_0002726	Recurrent Staphylococcus aureus infections	biolink:OntologyClass	hp	UMLS:C2673462	Increased susceptibility to Staphylococcus aureus infections, as manifested by recurrent episodes of Staphylococcus aureus infection.	http://purl.obolibrary.org/obo/HP_0002726		Staphylococcus aureus infections, recurrent
OBO:HP_0002728	Chronic mucocutaneous candidiasis	biolink:OntologyClass	hp	MSH:D002178|SNOMEDCT_US:234568006|UMLS:C0006845	Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails.	http://purl.obolibrary.org/obo/HP_0002728		Chronic candidiasis of mucosa, skin and nails|Mucocutaneous candidiasis
OBO:HP_0002729	Follicular hyperplasia	biolink:OntologyClass	hp	UMLS:C4014733	Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers.	http://purl.obolibrary.org/obo/HP_0002729		
OBO:HP_0002730	Chronic noninfectious lymphadenopathy	biolink:OntologyClass	hp	UMLS:C1858970	A chronic form of lymphadenopathy that is not related to infection.	http://purl.obolibrary.org/obo/HP_0002730		
OBO:HP_0002731	Decreased lymphocyte apoptosis	biolink:OntologyClass	hp	UMLS:C1858969	A reduction in the rate of apoptosis in lymphocytes.	http://purl.obolibrary.org/obo/HP_0002731		Defective lymphocyte apoptosis
OBO:HP_0002732	Lymph node hypoplasia	biolink:OntologyClass	hp	UMLS:C1865377|UMLS:C4025683	Underdevelopment of the lymph nodes.	http://purl.obolibrary.org/obo/HP_0002732		Small lymph nodes
OBO:HP_0002733	Abnormality of the lymph nodes	biolink:OntologyClass	hp	UMLS:C0149727	A lymph node abnormality.	http://purl.obolibrary.org/obo/HP_0002733		Abnormal lymph node histology|Abnormality of the lymph nodes
OBO:HP_0002737	Thick skull base	biolink:OntologyClass	hp	UMLS:C1839507		http://purl.obolibrary.org/obo/HP_0002737		Increased thickness of bone of skull base|Increased thickness of skull base|Thick skull base
OBO:HP_0002738	Hypoplastic frontal sinuses	biolink:OntologyClass	hp	UMLS:C1859682|UMLS:C4280548|UMLS:C4280549	Underdevelopment of frontal sinus.	http://purl.obolibrary.org/obo/HP_0002738		Decreased volume of frontal sinuses|Small frontal sinuses|Underdeveloped frontal sinuses|Decreased pneumatization of frontal sinus|Hypotrophic frontal sinus
OBO:HP_0002740	Recurrent E. coli infections	biolink:OntologyClass	hp	MSH:D004927|SNOMEDCT_US:71057007|UMLS:C0014836	Increased susceptibility to infections with Escherichia coli, as manifested by recurrent episodes of infection with this agent.	http://purl.obolibrary.org/obo/HP_0002740		E coli infections|E coli infections, recurrent
OBO:HP_0002741	Recurrent Serratia marcescens infections	biolink:OntologyClass	hp	UMLS:C4025682	Increased susceptibility to Serratia marcescens infections, as manifested by recurrent episodes of Serratia marcescens infection.	http://purl.obolibrary.org/obo/HP_0002741		
OBO:HP_0002742	Recurrent Klebsiella infections	biolink:OntologyClass	hp	UMLS:C4021751	Increased susceptibility to Klebsiella infections, as manifested by recurrent episodes of Klebsiella infection.	http://purl.obolibrary.org/obo/HP_0002742		Klebsiella infections, recurrent
OBO:HP_0002743	Recurrent enteroviral infections	biolink:OntologyClass	hp	UMLS:C4025681	Increased susceptibility to enteroviral infections, as manifested by recurrent episodes of enteroviral infection.	http://purl.obolibrary.org/obo/HP_0002743		
OBO:HP_0002744	Bilateral cleft lip and palate	biolink:OntologyClass	hp	SNOMEDCT_US:1085331000119107|UMLS:C1398522	Cleft lip and cleft palate affecting both sides of the face.	http://purl.obolibrary.org/obo/HP_0002744		Right and left cleft lip and palate|Bilateral cleft lip and cleft palate
OBO:HP_0002745	Oral leukoplakia	biolink:OntologyClass	hp	MSH:D007971|MSH:D007972|SNOMEDCT_US:414603003|SNOMEDCT_US:9187004|UMLS:C0023532|UMLS:C1704317	A thickened white patch on the oral mucosa that cannot be rubbed off.	http://purl.obolibrary.org/obo/HP_0002745	hposlim_core	Oral white patch|Oral idiopathic keratosis|Oral idiopathic leukoplakia|Oral idiopathic white patch|Oral leucoplakia|Oral leukokeratosis|Oral leukoplasia|Oral white plaque|leukokeratosis
OBO:HP_0002747	Respiratory insufficiency due to muscle weakness	biolink:OntologyClass	hp	UMLS:C3806467		http://purl.obolibrary.org/obo/HP_0002747		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
OBO:HP_0002748	Rickets	biolink:OntologyClass	hp	MSH:D012279|SNOMEDCT_US:41345002|UMLS:C0035579	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.	http://purl.obolibrary.org/obo/HP_0002748		Weak and soft bones
OBO:HP_0002749	Osteomalacia	biolink:OntologyClass	hp	SNOMEDCT_US:4598005|UMLS:C0029442	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.	http://purl.obolibrary.org/obo/HP_0002749		Softening of the bones
OBO:HP_0002750	Delayed skeletal maturation	biolink:OntologyClass	hp	SNOMEDCT_US:123983008|UMLS:C0541764	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.	http://purl.obolibrary.org/obo/HP_0002750		Delayed bone maturation|Delayed skeletal development|Delayed bone age|Delayed bone age before puberty|Retarded bone age|Skeletal maturation retardation|Retarded ossification
OBO:HP_0002751	Kyphoscoliosis	biolink:OntologyClass	hp	SNOMEDCT_US:405773007|UMLS:C0575158	An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.	http://purl.obolibrary.org/obo/HP_0002751		
OBO:HP_0002752	Sparse bone trabeculae	biolink:OntologyClass	hp	UMLS:C1833324		http://purl.obolibrary.org/obo/HP_0002752		
OBO:HP_0002753	Thin bony cortex	biolink:OntologyClass	hp	UMLS:C1833325	Abnormal thinning of the cortical region of bones.	http://purl.obolibrary.org/obo/HP_0002753		Thin cortices
OBO:HP_0002754	Osteomyelitis	biolink:OntologyClass	hp	MSH:D010019|SNOMEDCT_US:111253001|SNOMEDCT_US:60168000|UMLS:C0029443|UMLS:C2242472	Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism.	http://purl.obolibrary.org/obo/HP_0002754		Bone infection
OBO:HP_0002755	obsolete Osteomyelitis due to immunodeficiency	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0002755		
OBO:HP_0002756	Pathologic fracture	biolink:OntologyClass	hp	MSH:D005598|SNOMEDCT_US:22640007|SNOMEDCT_US:268029009|UMLS:C0016663	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.	http://purl.obolibrary.org/obo/HP_0002756		Spontaneous fracture|Pathologic fractures|Spontaneous fractures
OBO:HP_0002757	Recurrent fractures	biolink:OntologyClass	hp	MSH:D000069076|SNOMEDCT_US:134291007|SNOMEDCT_US:5468008|UMLS:C0016655|UMLS:C1833752|UMLS:C3805574|UMLS:C3806283	The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).	http://purl.obolibrary.org/obo/HP_0002757		Increased fracture rate|Increased fractures|Multiple fractures|Multiple spontaneous fractures|Recurrent fractures|Varying degree of multiple fractures|Frequent fractures
OBO:HP_0002758	Osteoarthritis	biolink:OntologyClass	hp	MSH:D010003|SNOMEDCT_US:225655006|SNOMEDCT_US:396275006|UMLS:C0029408	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.	http://purl.obolibrary.org/obo/HP_0002758		Degenerative joint disease
OBO:HP_0002761	Generalized joint laxity	biolink:OntologyClass	hp	UMLS:C1836308	Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body.	http://purl.obolibrary.org/obo/HP_0002761		Hypermobility of all joints|Generalised joint laxity|Joint laxity, generalized
OBO:HP_0002762	Multiple exostoses	biolink:OntologyClass	hp	MSH:D005097|SNOMEDCT_US:254044004|UMLS:C0015306	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.	http://purl.obolibrary.org/obo/HP_0002762		
OBO:HP_0002763	Abnormal cartilage morphology	biolink:OntologyClass	hp	UMLS:C4025680	Any morphological abnormality of cartilage.	http://purl.obolibrary.org/obo/HP_0002763		Abnormal shape of cartilage|Abnormality of cartilage morphology
OBO:HP_0002764	Stippled chondral calcification	biolink:OntologyClass	hp	UMLS:C4025679	Punctate (speckled, dot-like) deposition of calcium of calcium salts in the articular cartilage (cartilage located in joints).	http://purl.obolibrary.org/obo/HP_0002764		
OBO:HP_0002766	Relatively short spine	biolink:OntologyClass	hp	UMLS:C3277114		http://purl.obolibrary.org/obo/HP_0002766		Relatively short spine
OBO:HP_0002773	obsolete Small vertebral bodies	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0002773		
OBO:HP_0002777	Tracheal stenosis	biolink:OntologyClass	hp	MSH:D014135|SNOMEDCT_US:11296007|UMLS:C0040583		http://purl.obolibrary.org/obo/HP_0002777		Narrowing of windpipe
OBO:HP_0002778	Abnormal trachea morphology	biolink:OntologyClass	hp	MSH:D014133|SNOMEDCT_US:47125007|UMLS:C0040580|UMLS:C4025678	A structural anomaly of the trachea.	http://purl.obolibrary.org/obo/HP_0002778		Abnormality of the trachea|Tracheal disease
OBO:HP_0002779	Tracheomalacia	biolink:OntologyClass	hp	MSH:D055090|SNOMEDCT_US:95434006|UMLS:C0948187		http://purl.obolibrary.org/obo/HP_0002779		Floppy windpipe
OBO:HP_0002780	Bronchomalacia	biolink:OntologyClass	hp	MSH:D055091|SNOMEDCT_US:54203008|UMLS:C0264353	Weakness or softness of the cartilage in the walls of the bronchial tubes.	http://purl.obolibrary.org/obo/HP_0002780		
OBO:HP_0002781	Upper airway obstruction	biolink:OntologyClass	hp	UMLS:C0740852	Increased resistance to the passage of air in the upper airway.	http://purl.obolibrary.org/obo/HP_0002781	hposlim_core	Upper airway obstruction
OBO:HP_0002783	Recurrent lower respiratory tract infections	biolink:OntologyClass	hp	SNOMEDCT_US:448739000|SNOMEDCT_US:50417007|UMLS:C0149725|UMLS:C0585953|UMLS:C3163798	An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.	http://purl.obolibrary.org/obo/HP_0002783		Recurrent chest infections|Chronic lung infections|Lower respiratory tract infections
OBO:HP_0002786	Tracheobronchomalacia	biolink:OntologyClass	hp	MSH:D055089|SNOMEDCT_US:233788001|UMLS:C0340231	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.	http://purl.obolibrary.org/obo/HP_0002786		
OBO:HP_0002787	Tracheal calcification	biolink:OntologyClass	hp	SNOMEDCT_US:81089005|UMLS:C0264324	Calcification (abnormal deposits of calcium) in the tracheal tissues.	http://purl.obolibrary.org/obo/HP_0002787		Tracheal calcifications|Calcification of the trachea|Tracheal ectopic calcification
OBO:HP_0002788	Recurrent upper respiratory tract infections	biolink:OntologyClass	hp	SNOMEDCT_US:195708003|UMLS:C0581381	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).	http://purl.obolibrary.org/obo/HP_0002788		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
OBO:HP_0002789	Tachypnea	biolink:OntologyClass	hp	MSH:D059246|SNOMEDCT_US:271823003|UMLS:C0231835	Very rapid breathing.	http://purl.obolibrary.org/obo/HP_0002789		Increased respiratory rate or depth of breathing|Polypnea
OBO:HP_0002790	Neonatal breathing dysregulation	biolink:OntologyClass	hp	UMLS:C3806216		http://purl.obolibrary.org/obo/HP_0002790		Impaired breathing in newborn
OBO:HP_0002791	Hypoventilation	biolink:OntologyClass	hp	MSH:D007040|MSH:D012131|SNOMEDCT_US:15993004|SNOMEDCT_US:31515003|SNOMEDCT_US:80954004|UMLS:C0235063|UMLS:C3203358	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).	http://purl.obolibrary.org/obo/HP_0002791		Slow breathing|Under breathing|Alveolar hypoventilation|Respiratory depression
OBO:HP_0002792	Reduced vital capacity	biolink:OntologyClass	hp	SNOMEDCT_US:274715008|SNOMEDCT_US:607007|UMLS:C0476408|UMLS:C0520831	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.	http://purl.obolibrary.org/obo/HP_0002792		Decreased vital capacity
OBO:HP_0002793	Abnormal pattern of respiration	biolink:OntologyClass	hp	UMLS:C1837388	An anomaly of the rhythm or depth of breathing.	http://purl.obolibrary.org/obo/HP_0002793		Abnormal pattern of respiration|Abnormal respiratory patterns|Unusual breathing patterns
OBO:HP_0002795	Abnormal respiratory system physiology	biolink:OntologyClass	hp	Fyler:4200|UMLS:C4025677		http://purl.obolibrary.org/obo/HP_0002795		Functional respiratory abnormality|Respiratory problem|Abnormal respiration
OBO:HP_0002797	Osteolysis	biolink:OntologyClass	hp	MSH:D010014|SNOMEDCT_US:203522001|SNOMEDCT_US:30425001|UMLS:C0221204	Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium.	http://purl.obolibrary.org/obo/HP_0002797		Breakdown of bone|Increased bone resorption|Osteolytic defects of bones
OBO:HP_0002803	Congenital contracture	biolink:OntologyClass	hp	UMLS:C0332878	One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth.	http://purl.obolibrary.org/obo/HP_0002803		Congenital joint contractures|congenital contractures
OBO:HP_0002804	Arthrogryposis multiplex congenita	biolink:OntologyClass	hp	MSH:D001176|SNOMEDCT_US:111246005|SNOMEDCT_US:77016009|UMLS:C0003886	Multiple congenital contractures in different body areas.	http://purl.obolibrary.org/obo/HP_0002804		Arthrogryposis|Arthrogryposis multiplex|Arthrogryposis, congenital|Multiple congenital contractures
OBO:HP_0002805	Accelerated bone age after puberty	biolink:OntologyClass	hp	UMLS:C1860825		http://purl.obolibrary.org/obo/HP_0002805		Accelerated bone age after puberty
OBO:HP_0002808	Kyphosis	biolink:OntologyClass	hp	MSH:D007738|SNOMEDCT_US:414564002|UMLS:C0022821|UMLS:C1845112	Exaggerated anterior convexity of the thoracic vertebral column.	http://purl.obolibrary.org/obo/HP_0002808	hposlim_core	Hunched back|Round back|Gibbus deformity|Hyperkyphosis
OBO:HP_0002810	Dumbbell-shaped metaphyses	biolink:OntologyClass	hp	UMLS:C3277123		http://purl.obolibrary.org/obo/HP_0002810		Dumbbell shaped wide portion of long bone|Dumbbell shaped metaphyses|Dumbbell shaped metaphysis
OBO:HP_0002812	Coxa vara	biolink:OntologyClass	hp	MSH:D060905|SNOMEDCT_US:74820003|UMLS:C0239138	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.	http://purl.obolibrary.org/obo/HP_0002812		
OBO:HP_0002813	Abnormality of limb bone morphology	biolink:OntologyClass	hp	UMLS:C4082761	Any abnormality of bones of the arms or legs.	http://purl.obolibrary.org/obo/HP_0002813		Abnormal shape of limb bone|Arm and/or leg bone differences|Limb abnormality
OBO:HP_0002814	Abnormality of the lower limb	biolink:OntologyClass	hp	SNOMEDCT_US:449715001|UMLS:C1096086	An abnormality of the leg.	http://purl.obolibrary.org/obo/HP_0002814	hposlim_core	Abnormality of the lower limb|Lower limb deformities|Abnormality of the leg
OBO:HP_0002815	Abnormality of the knee	biolink:OntologyClass	hp	UMLS:C4025676	An abnormality of the knee joint or surrounding structures.	http://purl.obolibrary.org/obo/HP_0002815	hposlim_core	Abnormality of the knee
OBO:HP_0002816	Genu recurvatum	biolink:OntologyClass	hp	MEDDRA:10018194|UMLS:C0546964	An abnormally increased extension of the knee joint, so that the knee can bend backwards.	http://purl.obolibrary.org/obo/HP_0002816	hposlim_core	Back knee|Knee hyperextension|Genu recurvata
OBO:HP_0002817	Abnormality of the upper limb	biolink:OntologyClass	hp	UMLS:C4020900	An abnormality of the arm.	http://purl.obolibrary.org/obo/HP_0002817		Abnormality of the upper limb|Abnormality of the arm
OBO:HP_0002818	Abnormality of the radius	biolink:OntologyClass	hp	UMLS:C4025675	An abnormality of the radius.	http://purl.obolibrary.org/obo/HP_0002818	hposlim_core	
OBO:HP_0002821	Neuropathic arthropathy	biolink:OntologyClass	hp	MSH:D001177|SNOMEDCT_US:359554008|SNOMEDCT_US:67536000|UMLS:C0003892		http://purl.obolibrary.org/obo/HP_0002821		Charcot arthropathy|Charcot joint
OBO:HP_0002822	Hyperplasia of the femoral trochanters	biolink:OntologyClass	hp	UMLS:C3277120		http://purl.obolibrary.org/obo/HP_0002822		Hyperplastic femoral trochanters
OBO:HP_0002823	Abnormality of femur morphology	biolink:OntologyClass	hp	UMLS:C4021750	Any anomaly of the structure of the femur.	http://purl.obolibrary.org/obo/HP_0002823		Abnormality of the thighbone|Abnormality of the femora
OBO:HP_0002825	Caudal appendage	biolink:OntologyClass	hp	UMLS:C3277117	The presence of a tail-like skin appendage located adjacent to the sacrum.	http://purl.obolibrary.org/obo/HP_0002825	hposlim_core	Human tail|Coccygeal tail
OBO:HP_0002826	Halberd-shaped pelvis	biolink:OntologyClass	hp	UMLS:C3277119	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).	http://purl.obolibrary.org/obo/HP_0002826		Halberd-shaped pelvis bone
OBO:HP_0002827	Hip dislocation	biolink:OntologyClass	hp	MSH:D006617|SNOMEDCT_US:157265008|UMLS:C0019554	Displacement of the femur from its normal location in the hip joint.	http://purl.obolibrary.org/obo/HP_0002827		Dislocated hips|Dislocation of hip|Hip dislocation
OBO:HP_0002828	Multiple joint contractures	biolink:OntologyClass	hp	SNOMEDCT_US:19393004|SNOMEDCT_US:202264009|UMLS:C0158118		http://purl.obolibrary.org/obo/HP_0002828		
OBO:HP_0002829	Arthralgia	biolink:OntologyClass	hp	MSH:D018771|SNOMEDCT_US:57676002|UMLS:C0003862	Joint pain.	http://purl.obolibrary.org/obo/HP_0002829		Joint pain|Joint pains|Arthralgias|Arthritic pain
OBO:HP_0002831	Long coccyx	biolink:OntologyClass	hp	UMLS:C3277116		http://purl.obolibrary.org/obo/HP_0002831		Long tailbone
OBO:HP_0002832	Calcific stippling	biolink:OntologyClass	hp	UMLS:C1849993	An abnormal punctate (speckled, dot-like) pattern of calcifications in soft tissues within or surrounding bones (as observed on radiographs).	http://purl.obolibrary.org/obo/HP_0002832		Discrete calcific stippling
OBO:HP_0002833	Cystic angiomatosis of bone	biolink:OntologyClass	hp	UMLS:C4021749	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.	http://purl.obolibrary.org/obo/HP_0002833		Lytic cystic lesions in appendicular bones
OBO:HP_0002834	Flared femoral metaphysis	biolink:OntologyClass	hp	UMLS:C4025674		http://purl.obolibrary.org/obo/HP_0002834		Flared metaphysis of thigh bone
OBO:HP_0002835	Aspiration	biolink:OntologyClass	hp	SNOMEDCT_US:413585005|SNOMEDCT_US:68052005|UMLS:C0700198|UMLS:C2712334	Inspiration of a foreign object into the airway.	http://purl.obolibrary.org/obo/HP_0002835		Pulmonary aspiration
OBO:HP_0002836	Bladder exstrophy	biolink:OntologyClass	hp	MSH:D001746|SNOMEDCT_US:61758007|UMLS:C0005689	Eversion of the posterior bladder wall through the congenitally absent lower anterior abdominal wall and anterior bladder wall.	http://purl.obolibrary.org/obo/HP_0002836		Ectopia vesicae
OBO:HP_0002837	Recurrent bronchitis	biolink:OntologyClass	hp	UMLS:C0741796	An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.	http://purl.obolibrary.org/obo/HP_0002837		Bronchitis, recurrent
OBO:HP_0002839	Urinary bladder sphincter dysfunction	biolink:OntologyClass	hp	UMLS:C1843663	Abnormal function of a sphincter of the urinary bladder.	http://purl.obolibrary.org/obo/HP_0002839		Sphincter disturbance|Sphincter disturbances
OBO:HP_0002840	Lymphadenitis	biolink:OntologyClass	hp	MSH:D008199|SNOMEDCT_US:19471005|UMLS:C0024205	Inflammation of a lymph node.	http://purl.obolibrary.org/obo/HP_0002840		Inflammation of the lymph nodes
OBO:HP_0002841	Recurrent fungal infections	biolink:OntologyClass	hp	UMLS:C1844384	Increased susceptibility to fungal infections, as manifested by multiple episodes of fungal infection.	http://purl.obolibrary.org/obo/HP_0002841		Recurrent fungal infections
OBO:HP_0002842	Recurrent Burkholderia cepacia infections	biolink:OntologyClass	hp	UMLS:C4025673	Increased susceptibility to infections with Burkholderia cepacia, as manifested by recurrent episodes of infection with this agent.	http://purl.obolibrary.org/obo/HP_0002842		
OBO:HP_0002843	Abnormal T cell morphology	biolink:OntologyClass	hp	UMLS:C1855752	An abnormality of T cells.	http://purl.obolibrary.org/obo/HP_0002843		Abnormal T cells|Abnormality of T cells|Cellular immune defect|Defective cellular immunity
OBO:HP_0002845	obsolete Increased proportion of peripheral CD3+ T cells	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0002845		
OBO:HP_0002846	Abnormal B cell morphology	biolink:OntologyClass	hp	UMLS:C4021748	A structural abnormality of B cells.	http://purl.obolibrary.org/obo/HP_0002846		Abnormal B cells|Abnormality of B cells
OBO:HP_0002847	Impaired memory B cell generation	biolink:OntologyClass	hp	UMLS:C4025672	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.	http://purl.obolibrary.org/obo/HP_0002847		
OBO:HP_0002848	Decreased specific anti-polysaccharide antibody level	biolink:OntologyClass	hp	UMLS:C4021747	The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against bacterial polysaccharides.	http://purl.obolibrary.org/obo/HP_0002848		Depressed antibody response to polysaccharide antigens|Low specific anti-polysaccharide antibody titer|Specific anti-polysaccharide antibody deficiency
OBO:HP_0002849	Absence of lymph node germinal center	biolink:OntologyClass	hp	UMLS:C1847383	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.	http://purl.obolibrary.org/obo/HP_0002849		Absence of lymph node germinal centre|Lymph nodes lack germinal center|Lymphoid germinal center defect
OBO:HP_0002850	Decreased circulating total IgM	biolink:OntologyClass	hp	UMLS:C0239989	An abnormally decreased level of immunoglobulin M (IgM) in blood.	http://purl.obolibrary.org/obo/HP_0002850		Decreased IgM|Decreased IgM level|IgM deficiency|Reduced IgM levels
OBO:HP_0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	biolink:OntologyClass	hp	UMLS:C1858973	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.	http://purl.obolibrary.org/obo/HP_0002851		Increased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptors
OBO:HP_0002853	Increased proportion of HLA DR+ T cells	biolink:OntologyClass	hp	UMLS:C1858974	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.	http://purl.obolibrary.org/obo/HP_0002853		
OBO:HP_0002857	Genu valgum	biolink:OntologyClass	hp	MEDDRA:10023480|MSH:D056304|SNOMEDCT_US:299330008|UMLS:C0576093	The legs angle inward, such that the knees are close together and the ankles far apart.	http://purl.obolibrary.org/obo/HP_0002857	hposlim_core	Knock knees|Genu valga|Genu valgus|Genua valga|Knee joint valgus deformity
OBO:HP_0002858	Meningioma	biolink:OntologyClass	hp	MSH:D008579|NCIT:C3230|UMLS:C0025286	The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater.	http://purl.obolibrary.org/obo/HP_0002858		Noncancerous growth of membranes covering brain
OBO:HP_0002859	Rhabdomyosarcoma	biolink:OntologyClass	hp	MSH:D012208|NCIT:C3359|SNOMEDCT_US:302847003|SNOMEDCT_US:30924005|UMLS:C0035412		http://purl.obolibrary.org/obo/HP_0002859		
OBO:HP_0002860	Squamous cell carcinoma	biolink:OntologyClass	hp	MSH:D002294|MSH:D018307|NCIT:C2929|SNOMEDCT_US:28899001|SNOMEDCT_US:402815007|UMLS:C0007137|UMLS:C0751688	The presence of squamous cell carcinoma of the skin.	http://purl.obolibrary.org/obo/HP_0002860		Squamous cell cancer
OBO:HP_0002861	Melanoma	biolink:OntologyClass	hp	MSH:D008545|NCIT:C3224|SNOMEDCT_US:2092003|SNOMEDCT_US:372244006|UMLS:C0025202	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).	http://purl.obolibrary.org/obo/HP_0002861		Cancer of skin pigment cells|Skin cancer (melanoma)|Malignant melanoma
OBO:HP_0002862	Bladder carcinoma	biolink:OntologyClass	hp	NCIT:C2916|SNOMEDCT_US:255108000|UMLS:C0699885	The presence of a carcinoma of the urinary bladder.	http://purl.obolibrary.org/obo/HP_0002862		
OBO:HP_0002863	Myelodysplasia	biolink:OntologyClass	hp	MSH:D009190|SNOMEDCT_US:109995007|SNOMEDCT_US:128623006|SNOMEDCT_US:188736006|UMLS:C1851971|UMLS:C3463824	Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia.	http://purl.obolibrary.org/obo/HP_0002863		Myelodysplastic syndrome|Hypoplastic myelodysplasia
OBO:HP_0002864	Paraganglioma of head and neck	biolink:OntologyClass	hp	UMLS:C1333944		http://purl.obolibrary.org/obo/HP_0002864		Paragangliomas, head and neck
OBO:HP_0002865	Medullary thyroid carcinoma	biolink:OntologyClass	hp	MSH:C536914|NCIT:C3879|SNOMEDCT_US:128916007|SNOMEDCT_US:255032005|UMLS:C0238462	The presence of a medullary carcinoma of the thyroid gland.	http://purl.obolibrary.org/obo/HP_0002865		Medullary thyroid cancer
OBO:HP_0002866	Hypoplastic iliac wing	biolink:OntologyClass	hp	UMLS:C1865027	Underdevelopment of the ilium ala.	http://purl.obolibrary.org/obo/HP_0002866	hposlim_core	Hypoplastic iliac alae|Hypoplastic iliac wings|Small iliac wings
OBO:HP_0002867	Abnormality of the ilium	biolink:OntologyClass	hp	UMLS:C4021746	An abnormality of the ilium, the largest and uppermost bone of the pelvis.	http://purl.obolibrary.org/obo/HP_0002867	hposlim_core	Iliac abnormalities
OBO:HP_0002868	Narrow iliac wings	biolink:OntologyClass	hp	UMLS:C1836688	Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally).	http://purl.obolibrary.org/obo/HP_0002868	hposlim_core	
OBO:HP_0002869	Flared iliac wings	biolink:OntologyClass	hp	UMLS:C1865841	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.	http://purl.obolibrary.org/obo/HP_0002869	hposlim_core	Flared iliac wing
OBO:HP_0002870	Obstructive sleep apnea	biolink:OntologyClass	hp	MSH:D020181|SNOMEDCT_US:78275009|UMLS:C0520679	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.	http://purl.obolibrary.org/obo/HP_0002870		Obstructive sleep apnoea
OBO:HP_0002871	Central apnea	biolink:OntologyClass	hp	MSH:D020182|UMLS:C0520680	Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow.	http://purl.obolibrary.org/obo/HP_0002871		Central apnoea
OBO:HP_0002872	Apneic episodes precipitated by illness, fatigue, stress	biolink:OntologyClass	hp	UMLS:C3806462	Recurrent episodes of apnea that are precipitated by factors such as illness, fatigue, or stress.	http://purl.obolibrary.org/obo/HP_0002872		Episodic apnea induced by febrile illness or stress
OBO:HP_0002875	Exertional dyspnea	biolink:OntologyClass	hp	SNOMEDCT_US:60845006|UMLS:C0231807		http://purl.obolibrary.org/obo/HP_0002875		Exertional dyspnoea
OBO:HP_0002876	Episodic tachypnea	biolink:OntologyClass	hp	UMLS:C3806218	Episodes of very rapid breathing.	http://purl.obolibrary.org/obo/HP_0002876		Hyperpnea, episodic
OBO:HP_0002877	Nocturnal hypoventilation	biolink:OntologyClass	hp	UMLS:C1843643		http://purl.obolibrary.org/obo/HP_0002877		Nocturnal hypopnea|Nocturnal slow breathing|Nocturnal under breathing
OBO:HP_0002878	Respiratory failure	biolink:OntologyClass	hp	MSH:D012131|SNOMEDCT_US:409622000|UMLS:C1145670	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.	http://purl.obolibrary.org/obo/HP_0002878		Respiratory failure
OBO:HP_0002879	Anisospondyly	biolink:OntologyClass	hp	UMLS:C1857101	Abnormally increased variability of the size of the vertebral bodies.	http://purl.obolibrary.org/obo/HP_0002879		
OBO:HP_0002880	obsolete Respiratory difficulties	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0002880		
OBO:HP_0002882	Sudden episodic apnea	biolink:OntologyClass	hp	UMLS:C4025671	Recurrent bouts of sudden, severe apnea that may be life-threatening.	http://purl.obolibrary.org/obo/HP_0002882		
OBO:HP_0002883	Hyperventilation	biolink:OntologyClass	hp	MSH:D006985|SNOMEDCT_US:68978004|UMLS:C0020578	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.	http://purl.obolibrary.org/obo/HP_0002883		Rapid breathing
OBO:HP_0002884	Hepatoblastoma	biolink:OntologyClass	hp	MSH:D018197|NCIT:C3728|SNOMEDCT_US:109843000|SNOMEDCT_US:45024009|UMLS:C0206624	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.	http://purl.obolibrary.org/obo/HP_0002884		
OBO:HP_0002885	Medulloblastoma	biolink:OntologyClass	hp	MSH:D008527|NCIT:C3222|SNOMEDCT_US:443333004|SNOMEDCT_US:83217000|UMLS:C0025149	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.	http://purl.obolibrary.org/obo/HP_0002885		
OBO:HP_0002886	Vagal paraganglioma	biolink:OntologyClass	hp	SNOMEDCT_US:253030004|UMLS:C0474819	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.	http://purl.obolibrary.org/obo/HP_0002886		Glomus vagale tumor|Vagal nerve tumors|Glomus vagale paraganglioma
OBO:HP_0002888	Ependymoma	biolink:OntologyClass	hp	MSH:D004806|NCIT:C3017|SNOMEDCT_US:443643007|SNOMEDCT_US:57706008|UMLS:C0014474	The presence of an ependymoma of the central nervous system.	http://purl.obolibrary.org/obo/HP_0002888		
OBO:HP_0002890	Thyroid carcinoma	biolink:OntologyClass	hp	MSH:D013964|NCIT:C2916|UMLS:C0549473	The presence of a carcinoma of the thyroid gland.	http://purl.obolibrary.org/obo/HP_0002890		
OBO:HP_0002891	Uterine leiomyosarcoma	biolink:OntologyClass	hp	NCIT:C3158|SNOMEDCT_US:447389009|UMLS:C0280631	The presence of a leiomyosarcoma of the uterus.	http://purl.obolibrary.org/obo/HP_0002891		
OBO:HP_0002893	Pituitary adenoma	biolink:OntologyClass	hp	ICD-O:M8272/0|MSH:D010911|NCIT:C2855|SNOMEDCT_US:128664001|SNOMEDCT_US:254956000|UMLS:C0032000	A benign epithelial tumor derived from intrinsic cells of the adenohypophysis.	http://purl.obolibrary.org/obo/HP_0002893		Noncancerous tumor in pituitary gland
OBO:HP_0002894	Neoplasm of the pancreas	biolink:OntologyClass	hp	MSH:D010190|NCIT:C3262|SNOMEDCT_US:126859007|SNOMEDCT_US:363418001|UMLS:C0030297|UMLS:C0346647|UMLS:C1842408	A tumor (abnormal growth of tissue) of the pancreas.	http://purl.obolibrary.org/obo/HP_0002894		Cancer of the pancreas|Pancreatic cancer|Pancreatic tumor|increased risk of pancreatic cancer|Neoplasia of the pancreas
OBO:HP_0002895	Papillary thyroid carcinoma	biolink:OntologyClass	hp	MSH:C536915|NCIT:C2853|SNOMEDCT_US:255029007|UMLS:C0238463	The presence of a papillary adenocarcinoma of the thyroid gland.	http://purl.obolibrary.org/obo/HP_0002895		Papillary carcinoma of thyroid|Thyroid papillary carcinoma
OBO:HP_0002896	Neoplasm of the liver	biolink:OntologyClass	hp	MSH:D008113|NCIT:C3262|SNOMEDCT_US:126851005|SNOMEDCT_US:93870000|UMLS:C0023903|UMLS:C0345904	A tumor (abnormal growth of tissue) of the liver.	http://purl.obolibrary.org/obo/HP_0002896		Liver cancer|Liver tumor
OBO:HP_0002897	Parathyroid adenoma	biolink:OntologyClass	hp	ICD-10:D35.1|MSH:D010282|NCIT:C2855|SNOMEDCT_US:128474007|UMLS:C0262587	A benign tumor of the parathyroid gland that can cause hyperparathyroidism.	http://purl.obolibrary.org/obo/HP_0002897		Parathyroid adenomas
OBO:HP_0002898	Embryonal neoplasm	biolink:OntologyClass	hp	MSH:D009373|UMLS:C0027654		http://purl.obolibrary.org/obo/HP_0002898		Embryonal neoplasia|Embryonal tumors
OBO:HP_0002900	Hypokalemia	biolink:OntologyClass	hp	MSH:D007008|SNOMEDCT_US:166690008|SNOMEDCT_US:43339004|UMLS:C0020621	An abnormally decreased potassium concentration in the blood.	http://purl.obolibrary.org/obo/HP_0002900		Low blood potassium levels
OBO:HP_0002901	Hypocalcemia	biolink:OntologyClass	hp	MSH:D006996|SNOMEDCT_US:5291005|UMLS:C0020598	An abnormally decreased calcium concentration in the blood.	http://purl.obolibrary.org/obo/HP_0002901		Low blood calcium levels|Hypocalcaemia
OBO:HP_0002902	Hyponatremia	biolink:OntologyClass	hp	MSH:D007010|SNOMEDCT_US:89627008|UMLS:C0020625	An abnormally decreased sodium concentration in the blood.	http://purl.obolibrary.org/obo/HP_0002902		Low blood sodium levels
OBO:HP_0002904	Hyperbilirubinemia	biolink:OntologyClass	hp	SNOMEDCT_US:26165005|UMLS:C0311468	An increased amount of bilirubin in the blood.	http://purl.obolibrary.org/obo/HP_0002904		High blood bilirubin levels
OBO:HP_0002905	Hyperphosphatemia	biolink:OntologyClass	hp	MSH:D054559|SNOMEDCT_US:20165001|UMLS:C0085681|UMLS:C0553706	An abnormally increased phosphate concentration in the blood.	http://purl.obolibrary.org/obo/HP_0002905		High blood phosphate levels
OBO:HP_0002907	Microscopic hematuria	biolink:OntologyClass	hp	SNOMEDCT_US:197940006|UMLS:C0239937	Microscopic hematuria detected by dipstick or microscopic examination of the urine.	http://purl.obolibrary.org/obo/HP_0002907		Small amount of blood in urine|Microhematuria|Occult hematuria
OBO:HP_0002908	Conjugated hyperbilirubinemia	biolink:OntologyClass	hp	SNOMEDCT_US:9326001|UMLS:C0268307		http://purl.obolibrary.org/obo/HP_0002908		Direct hyperbilirubinemia
OBO:HP_0002909	Generalized aminoaciduria	biolink:OntologyClass	hp	UMLS:C1847868	An increased concentration of all types of amino acid in the urine.	http://purl.obolibrary.org/obo/HP_0002909		Generalised aminoaciduria|Generalized nonspecific aminoaciduria
OBO:HP_0002910	Elevated hepatic transaminase	biolink:OntologyClass	hp	MSH:D008107|SNOMEDCT_US:166603001|SNOMEDCT_US:166643006|SNOMEDCT_US:75183008|UMLS:C0086565|UMLS:C0151766|UMLS:C0235996|UMLS:C0438237|UMLS:C0438717|UMLS:C0877359|UMLS:C1842003|UMLS:C1848701	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.	http://purl.obolibrary.org/obo/HP_0002910		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
OBO:HP_0002912	Methylmalonic acidemia	biolink:OntologyClass	hp	MSH:C537358|SNOMEDCT_US:42393006|UMLS:C0268583	Increased concentration of methylmalonic acid in the blood.	http://purl.obolibrary.org/obo/HP_0002912		Elevated circulating methylmalonic acid concentration
OBO:HP_0002913	Myoglobinuria	biolink:OntologyClass	hp	MSH:D009212|SNOMEDCT_US:48165008|UMLS:C0027080	Presence of myoglobin in the urine.	http://purl.obolibrary.org/obo/HP_0002913		
OBO:HP_0002914	Hyperchloriduria	biolink:OntologyClass	hp	UMLS:C1846352	An increased concentration of chloride in the urine.	http://purl.obolibrary.org/obo/HP_0002914		Increased urinary chloride
OBO:HP_0002916	Abnormality of chromosome segregation	biolink:OntologyClass	hp	UMLS:C4025670	An abnormality of chromosome segregation.	http://purl.obolibrary.org/obo/HP_0002916		
OBO:HP_0002917	Hypomagnesemia	biolink:OntologyClass	hp	SNOMEDCT_US:190855004|UMLS:C0151723	An abnormally decreased magnesium concentration in the blood.	http://purl.obolibrary.org/obo/HP_0002917		Low blood Mg levels|Low blood magnesium levels
OBO:HP_0002918	Hypermagnesemia	biolink:OntologyClass	hp	SNOMEDCT_US:66978005|UMLS:C0151714	An abnormally increased magnesium concentration in the blood.	http://purl.obolibrary.org/obo/HP_0002918		High blood Mg levels|High blood magnesium levels
OBO:HP_0002919	Ketonuria	biolink:OntologyClass	hp	MSH:D007662|SNOMEDCT_US:274783007|SNOMEDCT_US:36815008|UMLS:C0162275	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.	http://purl.obolibrary.org/obo/HP_0002919		Ketonaciduria|Ketone bodies in urine|Acetonuria|Ketoaciduria
OBO:HP_0002920	Decreased circulating ACTH level	biolink:OntologyClass	hp	UMLS:C4025669	An abnormal reduction in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood.	http://purl.obolibrary.org/obo/HP_0002920		
OBO:HP_0002921	Abnormality of the cerebrospinal fluid	biolink:OntologyClass	hp	UMLS:C0151583	An abnormality of the cerebrospinal fluid (CSF).	http://purl.obolibrary.org/obo/HP_0002921		Abnormal CSF findings|Abnormality of the CSF
OBO:HP_0002922	Increased CSF protein	biolink:OntologyClass	hp	UMLS:C1806780	Increased concentration of protein in the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0002922		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
OBO:HP_0002923	Rheumatoid factor positive	biolink:OntologyClass	hp	SNOMEDCT_US:165839004|UMLS:C0151379	The presence in the serum of an autoantibody directed against the Fc portion of IgG.	http://purl.obolibrary.org/obo/HP_0002923		
OBO:HP_0002924	obsolete Decreased circulating aldosterone level	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0002924		
OBO:HP_0002925	Increased thyroid-stimulating hormone level	biolink:OntologyClass	hp	SNOMEDCT_US:309080005|UMLS:C0586553	Overproduction of thyroid-stimulating hormone (TSH) by the anterior pituitary gland.	http://purl.obolibrary.org/obo/HP_0002925		High TSH|TSH excess|Elevated thyroid stimulating hormone|Elevated thyroid stimulating hormone levels|Increased serum thyroid-stimulating hormone|Increased thyroid-stimulating hormone|Increased thyrotropin level|Thyroid-stimulating hormone excess
OBO:HP_0002926	Abnormality of thyroid physiology	biolink:OntologyClass	hp	UMLS:C0857576	An abnormal functionality of the thyroid gland.	http://purl.obolibrary.org/obo/HP_0002926		Abnormal thyroid function
OBO:HP_0002927	Histidinuria	biolink:OntologyClass	hp	MSH:C538321|SNOMEDCT_US:78311009|UMLS:C0268642	An increased concentration of histidine in the urine.	http://purl.obolibrary.org/obo/HP_0002927		High urine histidine levels|Elevated histidine in urine
OBO:HP_0002928	Decreased activity of the pyruvate dehydrogenase complex	biolink:OntologyClass	hp	UMLS:C1839888		http://purl.obolibrary.org/obo/HP_0002928		Decreased activity of the PDH complex|Pyruvate dehydrogenase complex deficiency
OBO:HP_0002929	Leydig cell insensitivity to gonadotropin	biolink:OntologyClass	hp	UMLS:C4025668		http://purl.obolibrary.org/obo/HP_0002929		
OBO:HP_0002930	Impaired sensitivity to thyroid hormone	biolink:OntologyClass	hp	MSH:D018382|SNOMEDCT_US:111567006|SNOMEDCT_US:237559000|SNOMEDCT_US:237560005|SNOMEDCT_US:50375007|UMLS:C2940786	Reduced sensitivity of end organs to thyroid hormone characterized by elevated serum levels of free thyroid hormone with nonsuppressed thyroid stimulating hormone.	http://purl.obolibrary.org/obo/HP_0002930		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
OBO:HP_0002932	Aldehyde oxidase deficiency	biolink:OntologyClass	hp	SNOMEDCT_US:124161002|UMLS:C1291266	A reduction in aldehyde oxidase level.	http://purl.obolibrary.org/obo/HP_0002932		
OBO:HP_0002933	Ventral hernia	biolink:OntologyClass	hp	MSH:D006555|SNOMEDCT_US:414396006|UMLS:C0019326	Ventral hernia refers to a condition in which abdominal contents protrude through a weakened portion of the abdominal wall.	http://purl.obolibrary.org/obo/HP_0002933		
OBO:HP_0002936	Distal sensory impairment	biolink:OntologyClass	hp	UMLS:C1847584	An abnormal reduction in sensation in the distal portions of the extremities.	http://purl.obolibrary.org/obo/HP_0002936		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
OBO:HP_0002937	Hemivertebrae	biolink:OntologyClass	hp	SNOMEDCT_US:68359008|UMLS:C0265677	Absence of one half of the vertebral body.	http://purl.obolibrary.org/obo/HP_0002937	hposlim_core	Missing part of vertebrae|Hemi-vertebrae|Hemivertebra
OBO:HP_0002938	Lumbar hyperlordosis	biolink:OntologyClass	hp	UMLS:C1184923	An abnormal accentuation of the inward curvature of the spine in the lumbar region.	http://purl.obolibrary.org/obo/HP_0002938		Excessive inward curvature of lower spine|Exaggerated lumbar lordosis|Increased lumbar lordosis|Lumbar lordosis|Prominent lumbar lordosis
OBO:HP_0002942	Thoracic kyphosis	biolink:OntologyClass	hp	UMLS:C1184919	Over curvature of the thoracic region, leading to a round back or if sever to a hump.	http://purl.obolibrary.org/obo/HP_0002942		Accentuated thoracic kyphosis|Exaggerated thoracic kyphosis
OBO:HP_0002943	Thoracic scoliosis	biolink:OntologyClass	hp	UMLS:C1857790		http://purl.obolibrary.org/obo/HP_0002943		
OBO:HP_0002944	Thoracolumbar scoliosis	biolink:OntologyClass	hp	UMLS:C0749379		http://purl.obolibrary.org/obo/HP_0002944		Scoliosis, thoracolumbar
OBO:HP_0002945	Intervertebral space narrowing	biolink:OntologyClass	hp	SNOMEDCT_US:11301007|UMLS:C0263870	Decreased height of the intervertebral disk.	http://purl.obolibrary.org/obo/HP_0002945		Narrow intervertebral disc spaces|Narrow intervertebral spaces
OBO:HP_0002946	Supernumerary vertebrae	biolink:OntologyClass	hp	SNOMEDCT_US:87294007|UMLS:C0265681		http://purl.obolibrary.org/obo/HP_0002946		
OBO:HP_0002947	Cervical kyphosis	biolink:OntologyClass	hp	SNOMEDCT_US:298393001|UMLS:C0575170	Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance.	http://purl.obolibrary.org/obo/HP_0002947		Rounded neck
OBO:HP_0002948	Vertebral fusion	biolink:OntologyClass	hp	UMLS:C1835763|UMLS:C1849073|UMLS:C3278509	A developmental defect leading to the union of two adjacent vertebrae.	http://purl.obolibrary.org/obo/HP_0002948	hposlim_core	Spinal fusion|Fused vertebrae|Fusion of vertebral bodies|Vertebral body fusion
OBO:HP_0002949	Fused cervical vertebrae	biolink:OntologyClass	hp	UMLS:C3887527	A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another.	http://purl.obolibrary.org/obo/HP_0002949		Fused neck|Cervical spine fusion|Cervical vertebral fusion|Fusion of cervical vertebrae
OBO:HP_0002951	Partial absence of cerebellar vermis	biolink:OntologyClass	hp	UMLS:C4025667	Congenital absence of a part of the vermis of cerebellum.	http://purl.obolibrary.org/obo/HP_0002951		
OBO:HP_0002953	Vertebral compression fractures	biolink:OntologyClass	hp	SNOMEDCT_US:42942008|SNOMEDCT_US:84138006|UMLS:C0262431|UMLS:C0410550		http://purl.obolibrary.org/obo/HP_0002953		Compression fracture|Fractures of vertebral bodies|Vertebral body compression|Vertebral collapse|Vertebral compression|Vertebral compression or collapse
OBO:HP_0002955	Granulomatosis	biolink:OntologyClass	hp	SNOMEDCT_US:443138004|SNOMEDCT_US:44328006|UMLS:C0521173	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.	http://purl.obolibrary.org/obo/HP_0002955		
OBO:HP_0002958	Immune dysregulation	biolink:OntologyClass	hp	UMLS:C1844666	Altered immune function characterized by lymphoid proliferation, immune activation, and excessive autoreactivity often leading to autoimmune/inflammatory complications.	http://purl.obolibrary.org/obo/HP_0002958		Immune dysregulation|Unregulated immune response
OBO:HP_0002959	Impaired Ig class switch recombination	biolink:OntologyClass	hp	UMLS:C1842528	An impairment of the class-switch recombination process that normally leads B lymphocytes to produce IgG, IgA, or IgE.	http://purl.obolibrary.org/obo/HP_0002959		Impaired B-lymphocyte isotype switching
OBO:HP_0002960	Autoimmunity	biolink:OntologyClass	hp	MSH:D001327|SNOMEDCT_US:85828009|UMLS:C0004364	The occurrence of an immune reaction against the organism's own cells or tissues.	http://purl.obolibrary.org/obo/HP_0002960		Autoimmune disease|Autoimmune disorder|Autoimmunity|Autoimmune condition
OBO:HP_0002961	Dysgammaglobulinemia	biolink:OntologyClass	hp	MSH:D004406|SNOMEDCT_US:123782009|UMLS:C0013374	Selective deficiency of one or more, but not all, classes of immunoglobulins.	http://purl.obolibrary.org/obo/HP_0002961		
OBO:HP_0002963	Abnormal delayed hypersensitivity skin test	biolink:OntologyClass	hp	UMLS:C1833172	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.	http://purl.obolibrary.org/obo/HP_0002963		
OBO:HP_0002965	Cutaneous anergy	biolink:OntologyClass	hp	UMLS:C1855781	Inability to react to a delayed hypersensitivity skin test.	http://purl.obolibrary.org/obo/HP_0002965		Absence of delayed hypersensitivity skin test|Lack of delayed skin hypersensitivity reaction
OBO:HP_0002967	Cubitus valgus	biolink:OntologyClass	hp	SNOMEDCT_US:54583007|UMLS:C0158465	Abnormal positioning in which the elbows are turned out.	http://purl.obolibrary.org/obo/HP_0002967	hposlim_core	Outward turned elbows
OBO:HP_0002970	Genu varum	biolink:OntologyClass	hp	MSH:D056305|SNOMEDCT_US:299331007|UMLS:C0544755	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.	http://purl.obolibrary.org/obo/HP_0002970	hposlim_core	Outward bow-leggedness|Outward bowing at knees|Genu vara|Genua vara
OBO:HP_0002971	Absent microvilli on the surface of peripheral blood lymphocytes	biolink:OntologyClass	hp	UMLS:C1833173	Absence of the fingerlike protrusive, actin-dependent structures found on the surface of peripheral blood lymphocytes.	http://purl.obolibrary.org/obo/HP_0002971		
OBO:HP_0002972	Reduced delayed hypersensitivity	biolink:OntologyClass	hp	UMLS:C1843386	Decreased ability to react to a delayed hypersensitivity skin test.	http://purl.obolibrary.org/obo/HP_0002972		Decreased reactivity to skin test antigens|Deficiency of delayed skin hypersensitivity|Impaired delayed hypersensitivity
OBO:HP_0002973	Abnormality of the forearm	biolink:OntologyClass	hp	UMLS:C4025666	An abnormality of the lower arm.	http://purl.obolibrary.org/obo/HP_0002973	hposlim_core	Abnormality of the forearm
OBO:HP_0002974	Radioulnar synostosis	biolink:OntologyClass	hp	MEDDRA:10037798|MSH:C562408|SNOMEDCT_US:33313004|UMLS:C0158761	An abnormal osseous union (fusion) between the radius and the ulna.	http://purl.obolibrary.org/obo/HP_0002974	hposlim_core	Fused forearm bones
OBO:HP_0002977	Aplasia/Hypoplasia involving the central nervous system	biolink:OntologyClass	hp	UMLS:C4025665	Absence or underdevelopment of tissue in the central nervous system.	http://purl.obolibrary.org/obo/HP_0002977		Aplasia/Hypoplasia involving the CNS|Absent/underdeveloped central nervous system tissue
OBO:HP_0002979	Bowing of the legs	biolink:OntologyClass	hp	MSH:D056305|SNOMEDCT_US:299331007|UMLS:C0544755	A bending or abnormal curvature affecting a long bone of the leg.	http://purl.obolibrary.org/obo/HP_0002979		Bowed legs|Bowed lower limbs|Bow legs|Bow-leggedness
OBO:HP_0002980	Femoral bowing	biolink:OntologyClass	hp	UMLS:C1859461	Bowing (abnormal curvature) of the femur.	http://purl.obolibrary.org/obo/HP_0002980	hposlim_core	Bowed thighbone|Bowed femur|Bowed femura|Bowed femurs
OBO:HP_0002981	Abnormality of the calf	biolink:OntologyClass	hp	UMLS:C4021832	An abnormality of the calf, i.e. of the posterior part of the lower leg.	http://purl.obolibrary.org/obo/HP_0002981		Abnormality of the calf
OBO:HP_0002982	Tibial bowing	biolink:OntologyClass	hp	UMLS:C1837081	A bending or abnormal curvature of the tibia.	http://purl.obolibrary.org/obo/HP_0002982	hposlim_core	Bowed shankbone|Bowed shinbone|Bowed tibia|Bowing of the tibia
OBO:HP_0002983	Micromelia	biolink:OntologyClass	hp	MEDDRA:10027546|SNOMEDCT_US:74370006|UMLS:C0025995	The presence of abnormally small extremities.	http://purl.obolibrary.org/obo/HP_0002983	hposlim_core	Smaller or shorter than typical limbs
OBO:HP_0002984	Hypoplasia of the radius	biolink:OntologyClass	hp	SNOMEDCT_US:205170001|SNOMEDCT_US:93288001|UMLS:C0685381|UMLS:C1840087	Underdevelopment of the radius.	http://purl.obolibrary.org/obo/HP_0002984	hposlim_core	Underdeveloped outer large forearm bone|Hypoplastic radii|Hypoplastic radius|Radial hypoplasia|Short radii|Short radius|Shortening of radius|Radial ray hypoplasia
OBO:HP_0002986	Radial bowing	biolink:OntologyClass	hp	UMLS:C1859399	A bending or abnormal curvature of the radius.	http://purl.obolibrary.org/obo/HP_0002986	hposlim_core	Bowing of outer large bone of the forearm|Bowed radii|Bowed radius|Bowing of radius bone of the forearm
OBO:HP_0002987	Elbow flexion contracture	biolink:OntologyClass	hp	SNOMEDCT_US:202271004|UMLS:C0409338	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.	http://purl.obolibrary.org/obo/HP_0002987		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
OBO:HP_0002990	Fibular aplasia	biolink:OntologyClass	hp	MEDDRA:10054882|UMLS:C1836186	Absence of the fibula.	http://purl.obolibrary.org/obo/HP_0002990	hposlim_core	Absent calf bone|Absent fibulae|Absent-hypoplastic fibulae
OBO:HP_0002991	Abnormality of fibula morphology	biolink:OntologyClass	hp	UMLS:C4025664	An anomaly of the calf bone (fibula), one of the two bones of the calf.	http://purl.obolibrary.org/obo/HP_0002991	hposlim_core	Abnormality of the calf bone
OBO:HP_0002992	Abnormality of tibia morphology	biolink:OntologyClass	hp	UMLS:C4025663	Abnormality of the tibia (shinbone).	http://purl.obolibrary.org/obo/HP_0002992		Abnormality of the shankbone|Abnormality of the shinbone
OBO:HP_0002996	Limited elbow movement	biolink:OntologyClass	hp	UMLS:C1849955		http://purl.obolibrary.org/obo/HP_0002996		Decreased elbow mobility|Limited elbow mobility|Limited elbow movement|Restricted elbow motion
OBO:HP_0002997	Abnormality of the ulna	biolink:OntologyClass	hp	UMLS:C4025662	An abnormality of the ulna bone of the forearm.	http://purl.obolibrary.org/obo/HP_0002997	hposlim_core	
OBO:HP_0002999	Patellar dislocation	biolink:OntologyClass	hp	MSH:D031222|SNOMEDCT_US:263029007|UMLS:C1135812	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.	http://purl.obolibrary.org/obo/HP_0002999		Dislocated kneecap|Dislocated patellae|Dislocation of patella
OBO:HP_0003001	Glomus jugular tumor	biolink:OntologyClass	hp	MSH:D005925|SNOMEDCT_US:127030001|SNOMEDCT_US:32037004|UMLS:C0017671		http://purl.obolibrary.org/obo/HP_0003001		Glomus jugular tumour|Glomus jugulare tumor|Glomus jugulare tumors
OBO:HP_0003002	Breast carcinoma	biolink:OntologyClass	hp	MSH:D001943|NCIT:C2916|SNOMEDCT_US:254838004|UMLS:C0678222	The presence of a carcinoma of the breast.	http://purl.obolibrary.org/obo/HP_0003002		Breast cancer
OBO:HP_0003003	Colon cancer	biolink:OntologyClass	hp	MSH:D003110|SNOMEDCT_US:363406005|UMLS:C0007102		http://purl.obolibrary.org/obo/HP_0003003		Colon cancer
OBO:HP_0003005	Ganglioneuroma	biolink:OntologyClass	hp	MSH:D005729|SNOMEDCT_US:116371000119107|SNOMEDCT_US:128919000|SNOMEDCT_US:53801007|UMLS:C0017075	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.	http://purl.obolibrary.org/obo/HP_0003005		
OBO:HP_0003006	Neuroblastoma	biolink:OntologyClass	hp	MSH:D009447|NCIT:C3270|SNOMEDCT_US:432328008|SNOMEDCT_US:87364003|UMLS:C0027819	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.	http://purl.obolibrary.org/obo/HP_0003006		Cancer of early nerve cells
OBO:HP_0003009	Enhanced neurotoxicity of vincristine	biolink:OntologyClass	hp	UMLS:C4025661		http://purl.obolibrary.org/obo/HP_0003009		
OBO:HP_0003010	Prolonged bleeding time	biolink:OntologyClass	hp	UMLS:C0151529	Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding.	http://purl.obolibrary.org/obo/HP_0003010		Prolonged bleeding time|Increased bleeding time
OBO:HP_0003011	Abnormality of the musculature	biolink:OntologyClass	hp	UMLS:C4021745	Abnormality originating in one or more muscles, i.e., of the set of muscles of body.	http://purl.obolibrary.org/obo/HP_0003011		Muscular abnormality
OBO:HP_0003013	Bulging epiphyses	biolink:OntologyClass	hp	UMLS:C1833329	A morphological abnormality of epiphyses whereby they are abnormally outwardly curving (protuberant).	http://purl.obolibrary.org/obo/HP_0003013		Bulging end part of bone
OBO:HP_0003015	Flared metaphysis	biolink:OntologyClass	hp	UMLS:C1850135	The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.	http://purl.obolibrary.org/obo/HP_0003015		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
OBO:HP_0003016	Metaphyseal widening	biolink:OntologyClass	hp	UMLS:C1849039	Abnormal widening of the metaphyseal regions of long bones.	http://purl.obolibrary.org/obo/HP_0003016		Broad wide portion of long bone|Wide metaphyses|Widened long bone metaphyses|Widened metaphyses
OBO:HP_0003019	Abnormality of the wrist	biolink:OntologyClass	hp	UMLS:C4021744	Abnormality of the wrist, the structure connecting the hand and the forearm.	http://purl.obolibrary.org/obo/HP_0003019	hposlim_core	Abnormalities of the wrists|Abnormality of the wrist
OBO:HP_0003020	Enlargement of the wrists	biolink:OntologyClass	hp	UMLS:C1838663		http://purl.obolibrary.org/obo/HP_0003020		Enlargement of the wrists
OBO:HP_0003021	Metaphyseal cupping	biolink:OntologyClass	hp	UMLS:C1837082	Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance.	http://purl.obolibrary.org/obo/HP_0003021		
OBO:HP_0003022	Hypoplasia of the ulna	biolink:OntologyClass	hp	MSH:C538069|UMLS:C1860614|UMLS:C1862132	Underdevelopment of the ulna.	http://purl.obolibrary.org/obo/HP_0003022	hposlim_core	Underdeveloped inner large forearm bone|Hypoplastic ulna|Short ulna|Short ulnae|Ulnar hypoplasia|Underdeveloped ulna
OBO:HP_0003023	Bowing of limbs due to multiple fractures	biolink:OntologyClass	hp	UMLS:C1850178	Curvature of the shafts of the long bones due to multiple fractures.	http://purl.obolibrary.org/obo/HP_0003023		Bowed limbs due to multiple fractures
OBO:HP_0003025	Metaphyseal irregularity	biolink:OntologyClass	hp	UMLS:C1838662	Irregularity of the normally smooth surface of the metaphyses.	http://purl.obolibrary.org/obo/HP_0003025		Irregular wide portion of a long bone|Frayed, irregular metaphyses|Frayed, irregular, metaphyses|Irregular metaphyses|Metaphyseal fraying|Metaphyseal irregularities
OBO:HP_0003026	Short long bone	biolink:OntologyClass	hp	UMLS:C1854912	One or more abnormally short long bone.	http://purl.obolibrary.org/obo/HP_0003026		Long bone shortening|Short long bone|Short tubular bones|shortened long tubular bones
OBO:HP_0003027	Mesomelia	biolink:OntologyClass	hp	UMLS:C0549306	Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments.	http://purl.obolibrary.org/obo/HP_0003027		Disproportionately short middle portion of limb|Mesomelic limb shortening|Mesomelic shortening of limbs|Symmetric mesomelic limb shortness
OBO:HP_0003028	Abnormality of the ankles	biolink:OntologyClass	hp	UMLS:C4025660		http://purl.obolibrary.org/obo/HP_0003028	hposlim_core	Abnormality of the ankles
OBO:HP_0003029	Enlargement of the ankles	biolink:OntologyClass	hp	UMLS:C1838664		http://purl.obolibrary.org/obo/HP_0003029		Enlargement of the ankles
OBO:HP_0003031	Ulnar bowing	biolink:OntologyClass	hp	UMLS:C1865847	Bending of the diaphysis (shaft) of the ulna.	http://purl.obolibrary.org/obo/HP_0003031	hposlim_core	Curving of inner forearm bone|Bowed ulna|Curved ulna
OBO:HP_0003034	Diaphyseal sclerosis	biolink:OntologyClass	hp	MSH:D003966|SNOMEDCT_US:318761000119105|SNOMEDCT_US:34643004|UMLS:C0011989	An elevation in bone density in one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity.	http://purl.obolibrary.org/obo/HP_0003034		Increased bone density in shaft of long bone|Craniodiaphyseal osteosclerosis|Diaphyseal osteosclerosis
OBO:HP_0003037	Enlarged joints	biolink:OntologyClass	hp	UMLS:C1859111	Increase in size of one or more joints.	http://purl.obolibrary.org/obo/HP_0003037	hposlim_core	Enlarged joints|Prominent joints
OBO:HP_0003038	Fibular hypoplasia	biolink:OntologyClass	hp	UMLS:C1832119	Underdevelopment of the fibula.	http://purl.obolibrary.org/obo/HP_0003038	hposlim_core	Short calf bone|Hypoplastic fibula|Short fibula|Short fibulae
OBO:HP_0003040	Arthropathy	biolink:OntologyClass	hp	MSH:D007592|SNOMEDCT_US:399269003|UMLS:C0022408		http://purl.obolibrary.org/obo/HP_0003040		Disease of the joints
OBO:HP_0003041	Humeroradial synostosis	biolink:OntologyClass	hp	MSH:C535284|SNOMEDCT_US:205329008|UMLS:C1863360|UMLS:C2930865	An abnormal osseous union (fusion) between the radius and the humerus.	http://purl.obolibrary.org/obo/HP_0003041		Fusion of upper and lower arm bones|Humeral radial synostosis|Humeral-radial synostosis|Radiohumeral synostosis of elbow|Synostosis of radius and humerus
OBO:HP_0003042	Elbow dislocation	biolink:OntologyClass	hp	SNOMEDCT_US:125617002|SNOMEDCT_US:417558002|UMLS:C1403299|UMLS:C1403321|UMLS:C2720437	Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet.	http://purl.obolibrary.org/obo/HP_0003042		Dislocations of the elbows|Elbow dislocation|Elbow dislocations|Radiocapitellar dislocation|Radiohumeral dislocation|Ulnohumeral dislocation
OBO:HP_0003043	Abnormal shoulder morphology	biolink:OntologyClass	hp	UMLS:C4025659	An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula.	http://purl.obolibrary.org/obo/HP_0003043	hposlim_core	Abnormality of the shoulder
OBO:HP_0003044	Shoulder flexion contracture	biolink:OntologyClass	hp	SNOMEDCT_US:202265005|UMLS:C0409336	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.	http://purl.obolibrary.org/obo/HP_0003044		
OBO:HP_0003045	Abnormal patella morphology	biolink:OntologyClass	hp	UMLS:C4021743	Abnormality of the patella (knee cap).	http://purl.obolibrary.org/obo/HP_0003045	hposlim_core	Abnormal kneecap|Abnormality of the patella|Patellar abnormality
OBO:HP_0003048	Radial head subluxation	biolink:OntologyClass	hp	SNOMEDCT_US:417109008|SNOMEDCT_US:95854004|UMLS:C0149977	Partial dislocation of the head of the radius.	http://purl.obolibrary.org/obo/HP_0003048		Radial subluxation|Radial-head subluxation
OBO:HP_0003049	Ulnar deviation of the wrist	biolink:OntologyClass	hp	SNOMEDCT_US:43689004|UMLS:C0231678		http://purl.obolibrary.org/obo/HP_0003049		Ulnar deviation of wrists
OBO:HP_0003051	Enlarged metaphyses	biolink:OntologyClass	hp	UMLS:C1855544	Abnormal increase in size of one or more metaphyses.	http://purl.obolibrary.org/obo/HP_0003051		Enlarged wide portion of a long bone
OBO:HP_0003053	Epiphyseal deformities of tubular bones	biolink:OntologyClass	hp	UMLS:C1854786		http://purl.obolibrary.org/obo/HP_0003053		
OBO:HP_0003057	Tetraamelia	biolink:OntologyClass	hp	MSH:C536498|SNOMEDCT_US:702313004|UMLS:C2931216	Amelia of all four limbs.	http://purl.obolibrary.org/obo/HP_0003057		Tetra-amelia
OBO:HP_0003059	Abnormality of the radioulnar joints	biolink:OntologyClass	hp	UMLS:C4025658		http://purl.obolibrary.org/obo/HP_0003059		
OBO:HP_0003063	Abnormality of the humerus	biolink:OntologyClass	hp	UMLS:C4021742	An abnormality of the humerus (i.e., upper arm bone).	http://purl.obolibrary.org/obo/HP_0003063		Abnormality of the humeri
OBO:HP_0003065	Patellar hypoplasia	biolink:OntologyClass	hp	UMLS:C1840068	Underdevelopment of the patella.	http://purl.obolibrary.org/obo/HP_0003065		Small kneecap|Underdeveloped kneecap|Hypoplastic patellae|Small patella|Small patellae
OBO:HP_0003066	Limited knee extension	biolink:OntologyClass	hp	UMLS:C1844690	Reduced ability to extend (straighten) the knee joint.	http://purl.obolibrary.org/obo/HP_0003066		Limited knee extension
OBO:HP_0003067	Madelung deformity	biolink:OntologyClass	hp	MSH:C562398|SNOMEDCT_US:4530000|UMLS:C0152441	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.	http://purl.obolibrary.org/obo/HP_0003067	hposlim_core	Madelung wrist deformity
OBO:HP_0003068	Madelung-like forearm deformities	biolink:OntologyClass	hp	UMLS:C1851419		http://purl.obolibrary.org/obo/HP_0003068		
OBO:HP_0003070	Elbow ankylosis	biolink:OntologyClass	hp	SNOMEDCT_US:202307002|UMLS:C0409477		http://purl.obolibrary.org/obo/HP_0003070		
OBO:HP_0003071	Flattened epiphysis	biolink:OntologyClass	hp	UMLS:C1857527	Abnormal flatness (decreased height) of epiphyses.	http://purl.obolibrary.org/obo/HP_0003071		Flat end part of bone|Flat epiphyses
OBO:HP_0003072	Hypercalcemia	biolink:OntologyClass	hp	MSH:D006934|SNOMEDCT_US:166702002|SNOMEDCT_US:66931009|UMLS:C0020437	An abnormally increased calcium concentration in the blood.	http://purl.obolibrary.org/obo/HP_0003072		High blood calcium levels|Increased calcium in blood|Hypercalcaemia
OBO:HP_0003073	Hypoalbuminemia	biolink:OntologyClass	hp	MSH:D034141|SNOMEDCT_US:119247004|UMLS:C0239981	Reduction in the concentration of albumin in the blood.	http://purl.obolibrary.org/obo/HP_0003073		Low albumin|Low blood albumin|Hypoalbuminaemia
OBO:HP_0003074	Hyperglycemia	biolink:OntologyClass	hp	MSH:D006943|SNOMEDCT_US:237598005|SNOMEDCT_US:80394007|UMLS:C0020456	An increased concentration of glucose in the blood.	http://purl.obolibrary.org/obo/HP_0003074		High blood sugar|High blood glucose
OBO:HP_0003075	Hypoproteinemia	biolink:OntologyClass	hp	MSH:D007019|SNOMEDCT_US:8900005|UMLS:C0020639	A decreased concentration of protein in the blood.	http://purl.obolibrary.org/obo/HP_0003075		Decreased protein levels in blood
OBO:HP_0003076	Glycosuria	biolink:OntologyClass	hp	MSH:D006029|SNOMEDCT_US:45154002|UMLS:C0017979	An increased concentration of glucose in the urine.	http://purl.obolibrary.org/obo/HP_0003076		Glucose in urine|Glucosuria
OBO:HP_0003077	Hyperlipidemia	biolink:OntologyClass	hp	MSH:D006949|SNOMEDCT_US:55822004|UMLS:C0020473	An elevated lipid concentration in the blood.	http://purl.obolibrary.org/obo/HP_0003077		Elevated lipids in blood
OBO:HP_0003079	Defective DNA repair after ultraviolet radiation damage	biolink:OntologyClass	hp	UMLS:C1968564		http://purl.obolibrary.org/obo/HP_0003079		
OBO:HP_0003080	Hydroxyprolinuria	biolink:OntologyClass	hp	UMLS:C0948585	An increased concentration of 4-hydroxy-L-proline in the urine.	http://purl.obolibrary.org/obo/HP_0003080		Elevated urinary hydroxyproline
OBO:HP_0003081	Increased urinary potassium	biolink:OntologyClass	hp	UMLS:C1846351	An increased concentration of potassium(1+) in the urine.	http://purl.obolibrary.org/obo/HP_0003081		Increased urinary K|Increased urinary potassium|Hyperkaliuresis
OBO:HP_0003083	Dislocated radial head	biolink:OntologyClass	hp	SNOMEDCT_US:9634000|UMLS:C0265563	A dislocation of the head of the radius from its socket in the elbow joint.	http://purl.obolibrary.org/obo/HP_0003083		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
OBO:HP_0003084	Fractures of the long bones	biolink:OntologyClass	hp	UMLS:C0240231	An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula, humerus, radius, and ulna).	http://purl.obolibrary.org/obo/HP_0003084		Increased long bone fracture rate
OBO:HP_0003085	Long fibula	biolink:OntologyClass	hp	UMLS:C1848109	Disproportionately long fibulae.	http://purl.obolibrary.org/obo/HP_0003085	hposlim_core	Long calf bone|Long fibula|Disproportionately long fibula
OBO:HP_0003086	Acromesomelia	biolink:OntologyClass	hp	UMLS:C1864365	Small hands and feet.	http://purl.obolibrary.org/obo/HP_0003086		
OBO:HP_0003088	Premature osteoarthritis	biolink:OntologyClass	hp	UMLS:C1835121		http://purl.obolibrary.org/obo/HP_0003088		Premature arthritis|Premature osteoarthritis
OBO:HP_0003089	Hamstring contractures	biolink:OntologyClass	hp	SNOMEDCT_US:203074005|UMLS:C0410266		http://purl.obolibrary.org/obo/HP_0003089		Hamstring contractures
OBO:HP_0003090	Hypoplasia of the capital femoral epiphysis	biolink:OntologyClass	hp	UMLS:C1839254	Underdevelopment of the proximal epiphysis of the femur.	http://purl.obolibrary.org/obo/HP_0003090		Small innermost thighbone end part|Underdevelopment of the innermost thighbone end part|Small capital femoral epiphyses|Small femoral capital epiphyses|Small proximal femoral epiphyses
OBO:HP_0003091	Trophic limb changes	biolink:OntologyClass	hp	UMLS:C4025657	Trophic changes occurring in a limb.	http://purl.obolibrary.org/obo/HP_0003091		
OBO:HP_0003093	Limited hip extension	biolink:OntologyClass	hp	UMLS:C3553368	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.	http://purl.obolibrary.org/obo/HP_0003093		Limited hip extension|Restricted hip extension
OBO:HP_0003095	Septic arthritis	biolink:OntologyClass	hp	MSH:D001170|SNOMEDCT_US:372939007|SNOMEDCT_US:396234004|UMLS:C0003869|UMLS:C4280547		http://purl.obolibrary.org/obo/HP_0003095		Infected joint
OBO:HP_0003097	Short femur	biolink:OntologyClass	hp	SNOMEDCT_US:93255008|UMLS:C0345375	An abnormal shortening of the femur.	http://purl.obolibrary.org/obo/HP_0003097	hposlim_core	Short thighbone|Femoral hypoplasia|Hypoplasia of the femora|Short femurs
OBO:HP_0003099	Fibular overgrowth	biolink:OntologyClass	hp	UMLS:C1864298	Relatively increased growth of the fibula compared to that of the tibia.	http://purl.obolibrary.org/obo/HP_0003099		Overgrowth of calf bone
OBO:HP_0003100	Slender long bone	biolink:OntologyClass	hp	UMLS:C1833144	Reduced diameter of a long bone.	http://purl.obolibrary.org/obo/HP_0003100		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
OBO:HP_0003102	Increased carrying angle	biolink:OntologyClass	hp	UMLS:C1855478	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.	http://purl.obolibrary.org/obo/HP_0003102		
OBO:HP_0003103	Abnormal cortical bone morphology	biolink:OntologyClass	hp	UMLS:C4021741	An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones.	http://purl.obolibrary.org/obo/HP_0003103		Abnormal compact bone morphology|Abnormality of cortical bone
OBO:HP_0003105	Protuberances at ends of long bones	biolink:OntologyClass	hp	UMLS:C1851418	The presence of multiple protuberances (bulges, or knobs) at the ends of the long bones.	http://purl.obolibrary.org/obo/HP_0003105		Protuberances at ends of long bones
OBO:HP_0003106	Subperiosteal bone resorption	biolink:OntologyClass	hp	UMLS:C1848541	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.	http://purl.obolibrary.org/obo/HP_0003106		Subperiosteal erosions
OBO:HP_0003107	Abnormal circulating cholesterol concentration	biolink:OntologyClass	hp	UMLS:C4025656	Any deviation from the normal concentration of cholesterol in the blood circulation.	http://purl.obolibrary.org/obo/HP_0003107		Abnormality of cholesterol metabolism|Abnormal cholesterol homeostasis
OBO:HP_0003108	Hyperglycinuria	biolink:OntologyClass	hp	MSH:C563009|SNOMEDCT_US:236477004|UMLS:C0341706|UMLS:C0543541	An increased concentration of glycine in the urine.	http://purl.obolibrary.org/obo/HP_0003108		High urine glycine levels|Glycinuria
OBO:HP_0003109	Hyperphosphaturia	biolink:OntologyClass	hp	SNOMEDCT_US:22450000|UMLS:C0268079|UMLS:C0948023	An increased excretion of phosphates in the urine.	http://purl.obolibrary.org/obo/HP_0003109		High urine phosphate levels|Phosphaturia
OBO:HP_0003110	Abnormality of urine homeostasis	biolink:OntologyClass	hp	UMLS:C4025655	An abnormality of the composition of urine or the levels of its components.	http://purl.obolibrary.org/obo/HP_0003110		Pee issues|Urine issues
OBO:HP_0003111	Abnormal blood ion concentration	biolink:OntologyClass	hp	SNOMEDCT_US:237840007|UMLS:C1704431|UMLS:C4025654	Abnormality of the homeostasis (concentration) of a monoatomic ion.	http://purl.obolibrary.org/obo/HP_0003111		Electrolyte disorders|Abnormality of ion homeostasis
OBO:HP_0003112	Abnormal circulating amino acid concentration	biolink:OntologyClass	hp	UMLS:C4025653	The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation.	http://purl.obolibrary.org/obo/HP_0003112		Abnormality of serum amino acid levels|Abnormality of serum amino acid level
OBO:HP_0003113	Hypochloremia	biolink:OntologyClass	hp	SNOMEDCT_US:10399008|UMLS:C0085680|UMLS:C0595901	An abnormally decreased chloride concentration in the blood.	http://purl.obolibrary.org/obo/HP_0003113		Low blood chloride levels
OBO:HP_0003114	obsolete Abnormal cardiological findings	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0003114		
OBO:HP_0003115	Abnormal EKG	biolink:OntologyClass	hp	SNOMEDCT_US:102594003|UMLS:C0522055	Abnormal rhythm of the heart.	http://purl.obolibrary.org/obo/HP_0003115		EKG abnormality|Abnormal ECG|Abnormal EKG|Abnormal electrocardiogram
OBO:HP_0003116	Abnormal echocardiogram	biolink:OntologyClass	hp	SNOMEDCT_US:169241000|UMLS:C0476369	An abnormality detectable by sonography of the heart (echocardiography).	http://purl.obolibrary.org/obo/HP_0003116		Abnormal echocardiogram|Abnormal echocardiography
OBO:HP_0003117	Abnormal circulating hormone level	biolink:OntologyClass	hp	UMLS:C4025652	An abnormal concentration of a hormone in the blood.	http://purl.obolibrary.org/obo/HP_0003117		Abnormality of circulating hormone level
OBO:HP_0003118	Increased circulating cortisol level	biolink:OntologyClass	hp	MSH:D000308|SNOMEDCT_US:237735008|SNOMEDCT_US:275437005|SNOMEDCT_US:47270006|UMLS:C0001622|UMLS:C0342443|UMLS:C4025651	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.	http://purl.obolibrary.org/obo/HP_0003118		Increased circulating cortisol level|Cushing syndrome|Hypercortisolism|Increased cortisol production
OBO:HP_0003119	Abnormal circulating lipid concentration	biolink:OntologyClass	hp	MSH:D050171|SNOMEDCT_US:370992007|UMLS:C0242339|UMLS:C4025650	Any deviation from the normal concentration of a lipid in the blood circulation.	http://purl.obolibrary.org/obo/HP_0003119		Dyslipidemia
OBO:HP_0003121	Limb joint contracture	biolink:OntologyClass	hp	UMLS:C1969879	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.	http://purl.obolibrary.org/obo/HP_0003121		Limb contractures
OBO:HP_0003124	Hypercholesterolemia	biolink:OntologyClass	hp	MSH:D006937|SNOMEDCT_US:13644009|SNOMEDCT_US:166830008|UMLS:C0020443|UMLS:C0595929	An increased concentration of cholesterol in the blood.	http://purl.obolibrary.org/obo/HP_0003124		High cholesterol|Elevated serum cholesterol|Elevated total cholesterol|Increased total cholesterol
OBO:HP_0003125	Reduced factor VIII activity	biolink:OntologyClass	hp	MSH:D006467|SNOMEDCT_US:234440005|UMLS:C3494187|UMLS:C4025649	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.	http://purl.obolibrary.org/obo/HP_0003125		Factor VIII deficiency
OBO:HP_0003126	Low-molecular-weight proteinuria	biolink:OntologyClass	hp	UMLS:C1839606	Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD).	http://purl.obolibrary.org/obo/HP_0003126		Tubular proteinuria
OBO:HP_0003127	Hypocalciuria	biolink:OntologyClass	hp	SNOMEDCT_US:86353007|UMLS:C0020599	An abnormally decreased calcium concentration in the urine.	http://purl.obolibrary.org/obo/HP_0003127		Low urine calcium levels
OBO:HP_0003128	Lactic acidosis	biolink:OntologyClass	hp	MSH:D000140|SNOMEDCT_US:190882007|SNOMEDCT_US:91273001|UMLS:C0001125|UMLS:C0347959	An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.	http://purl.obolibrary.org/obo/HP_0003128		Increased lactate in body|Hyperlacticacidemia|Lactic acidemia|Lacticacidemia|Lacticacidosis
OBO:HP_0003130	Abnormal peripheral myelination	biolink:OntologyClass	hp	UMLS:C4025648	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.	http://purl.obolibrary.org/obo/HP_0003130		
OBO:HP_0003131	Cystinuria	biolink:OntologyClass	hp	MSH:D003555|SNOMEDCT_US:85020001|UMLS:C0010691	An increased concentration of cystine in the urine.	http://purl.obolibrary.org/obo/HP_0003131		High urine cystine levels
OBO:HP_0003133	Abnormality of the spinocerebellar tracts	biolink:OntologyClass	hp	UMLS:C4025647	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.	http://purl.obolibrary.org/obo/HP_0003133		
OBO:HP_0003134	Abnormality of peripheral nerve conduction	biolink:OntologyClass	hp	UMLS:C4020690	An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS).	http://purl.obolibrary.org/obo/HP_0003134		Sensory and motor nerve conduction abnormalities|Abnormal peripheral nerve transmission
OBO:HP_0003137	Prolinuria	biolink:OntologyClass	hp	SNOMEDCT_US:53124003|UMLS:C0268534	An increased concentration of proline in the urine.	http://purl.obolibrary.org/obo/HP_0003137		
OBO:HP_0003138	Increased blood urea nitrogen	biolink:OntologyClass	hp	UMLS:C0151539	An increased amount of nitrogen in the form of urea in the blood.	http://purl.obolibrary.org/obo/HP_0003138		Increased BUN|Increased blood urea nitrogen
OBO:HP_0003139	Panhypogammaglobulinemia	biolink:OntologyClass	hp	UMLS:C1328587	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.	http://purl.obolibrary.org/obo/HP_0003139		Panypogammaglobulinemia
OBO:HP_0003140	T-wave inversion in the right precordial leads	biolink:OntologyClass	hp	UMLS:C4025646		http://purl.obolibrary.org/obo/HP_0003140		
OBO:HP_0003141	Increased LDL cholesterol concentration	biolink:OntologyClass	hp	MSH:D006938|SNOMEDCT_US:190773008|SNOMEDCT_US:398036000|UMLS:C0020445|UMLS:C0549399	An elevated concentration of low-density lipoprotein cholesterol in the blood.	http://purl.obolibrary.org/obo/HP_0003141		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
OBO:HP_0003142	Excessive purine production	biolink:OntologyClass	hp	UMLS:C4025645		http://purl.obolibrary.org/obo/HP_0003142		
OBO:HP_0003144	Increased serum serotonin	biolink:OntologyClass	hp	UMLS:C0877243	A increased concentration of serotonin in the blood.	http://purl.obolibrary.org/obo/HP_0003144		Increased serum serotonin
OBO:HP_0003145	Decreased adenosylcobalamin	biolink:OntologyClass	hp	UMLS:C1848556	Decreased concentration of adenosylcobalamin. Adenosylcobalamin is one of the active forms of vitamin B12.	http://purl.obolibrary.org/obo/HP_0003145		Decreased ADOCBL
OBO:HP_0003146	Hypocholesterolemia	biolink:OntologyClass	hp	SNOMEDCT_US:61336008|UMLS:C0151718	An decreased concentration of cholesterol in the blood.	http://purl.obolibrary.org/obo/HP_0003146		Decreased circulating cholesterol level
OBO:HP_0003148	Elevated serum acid phosphatase	biolink:OntologyClass	hp	UMLS:C1839866		http://purl.obolibrary.org/obo/HP_0003148		Acid phosphatase elevated|Elevated serum acid phosphatase
OBO:HP_0003149	Hyperuricosuria	biolink:OntologyClass	hp	UMLS:C0948643	An abnormally high level of uric acid in the urine.	http://purl.obolibrary.org/obo/HP_0003149		High urine uric acid level
OBO:HP_0003150	Glutaric aciduria	biolink:OntologyClass	hp	SNOMEDCT_US:28987007|UMLS:C0268594	An increased concentration of glutaric acid in the urine.	http://purl.obolibrary.org/obo/HP_0003150		Glutarate aciduria|Glutaricaciduria|Increased glutarate level in urine
OBO:HP_0003152	obsolete Increased serum 1,25-dihydroxyvitamin D3	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0003152		
OBO:HP_0003153	Cystathioninuria	biolink:OntologyClass	hp	SNOMEDCT_US:13003007|UMLS:C0220993	An elevated urinary concentration of cystathionine.	http://purl.obolibrary.org/obo/HP_0003153		High urine cystathionine levels
OBO:HP_0003154	Increased circulating ACTH level	biolink:OntologyClass	hp	UMLS:C4021740	An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood.	http://purl.obolibrary.org/obo/HP_0003154		High blood corticotropin levels|Increased circulating ACTH level|Increased plasma ACTH
OBO:HP_0003155	Elevated alkaline phosphatase	biolink:OntologyClass	hp	UMLS:C0750857	Abnormally increased serum levels of alkaline phosphatase activity.	http://purl.obolibrary.org/obo/HP_0003155		Elevated ALP|Elevated alkaline phosphatase|Greatly elevated alkaline phosphatase|High serum alkaline phosphatase|Increased alkaline phosphatase|Increased serum alkaline phosphatase|Hyperphosphatasemia|Hyperphosphatasia
OBO:HP_0003158	Hyposthenuria	biolink:OntologyClass	hp	SNOMEDCT_US:76023003|UMLS:C0232831	An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine.	http://purl.obolibrary.org/obo/HP_0003158		Reduced urinary osmolality
OBO:HP_0003159	Hyperoxaluria	biolink:OntologyClass	hp	MSH:D006959|SNOMEDCT_US:367621000119107|UMLS:C0020500	Increased excretion of oxalates in the urine.	http://purl.obolibrary.org/obo/HP_0003159		High urine oxalate levels|Increased level of oxalate in urine
OBO:HP_0003160	Abnormal isoelectric focusing of serum transferrin	biolink:OntologyClass	hp	UMLS:C2749688	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.	http://purl.obolibrary.org/obo/HP_0003160		Abnormal isoelectric focusing of serum transferrin|Abnormal transferrin isoelectric focusing
OBO:HP_0003161	4-Hydroxyphenylpyruvic aciduria	biolink:OntologyClass	hp	UMLS:C1848678	Increased concentration of pyruvic acid in the urine.	http://purl.obolibrary.org/obo/HP_0003161		Hydroxyphenylpyruvic aciduria
OBO:HP_0003162	Fasting hypoglycemia	biolink:OntologyClass	hp	MSH:D007003|SNOMEDCT_US:6974005|UMLS:C0271708		http://purl.obolibrary.org/obo/HP_0003162		Low blood sugar when fasting
OBO:HP_0003163	Elevated urinary delta-aminolevulinic acid	biolink:OntologyClass	hp	UMLS:C1848702	An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine.	http://purl.obolibrary.org/obo/HP_0003163		Elevated urinary delta-aminolevulinic acid
OBO:HP_0003164	Hypothalamic gonadotropin-releasing hormone deficiency	biolink:OntologyClass	hp	UMLS:C4025644		http://purl.obolibrary.org/obo/HP_0003164		Hypothalamic GNRH deficiency
OBO:HP_0003165	Elevated circulating parathyroid hormone level	biolink:OntologyClass	hp	UMLS:C0857973	An abnormal increased concentration of parathyroid hormone.	http://purl.obolibrary.org/obo/HP_0003165		Elevated circulating PTH level|Elevated serum parathyroid hormone|Elevated serum parathyroid hormone level|Elevated serum pth|Increased serum parathyroid hormone
OBO:HP_0003166	Increased urinary taurine	biolink:OntologyClass	hp	UMLS:C3806447	Increased concentration of taurine in the urine.	http://purl.obolibrary.org/obo/HP_0003166		Increased urinary taurine
OBO:HP_0003167	Carnosinuria	biolink:OntologyClass	hp	SNOMEDCT_US:410051001|UMLS:C3495558	An increased concentration of carnosine in the urine.	http://purl.obolibrary.org/obo/HP_0003167		High urine carnosine levels
OBO:HP_0003168	Dibasicaminoaciduria	biolink:OntologyClass	hp	UMLS:C4025643	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).	http://purl.obolibrary.org/obo/HP_0003168		
OBO:HP_0003170	Abnormal acetabulum morphology	biolink:OntologyClass	hp	UMLS:C4021739	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.	http://purl.obolibrary.org/obo/HP_0003170	hposlim_core	Abnormality of the hipbone socket|Abnormality of the acetabulum|Acetabular abnormality
OBO:HP_0003172	Abnormality of the pubic bone	biolink:OntologyClass	hp	UMLS:C4021738	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.	http://purl.obolibrary.org/obo/HP_0003172	hposlim_core	Abnormality of the pubic bone|Abnormality of the pubic bones|Abnormality of the pubis
OBO:HP_0003173	Hypoplastic pubic bone	biolink:OntologyClass	hp	UMLS:C1865030	Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone.	http://purl.obolibrary.org/obo/HP_0003173		Hypoplastic pubic bones|Hypoplastic pubis
OBO:HP_0003174	Abnormality of the ischium	biolink:OntologyClass	hp	SNOMEDCT_US:93008005|UMLS:C0685661	An anomaly of the ischium, which forms the lower and back part of the hip bone.	http://purl.obolibrary.org/obo/HP_0003174		Abnormality of the ischial bones|Anomaly of the ischium
OBO:HP_0003175	Hypoplastic ischia	biolink:OntologyClass	hp	UMLS:C1859447	Underdevelopment of the ischium, which forms the lower and back part of the hip bone.	http://purl.obolibrary.org/obo/HP_0003175	hposlim_core	Hypoplastic ischial bones|Hypoplastic ischii|Hypoplastic ischium
OBO:HP_0003177	Squared iliac bones	biolink:OntologyClass	hp	UMLS:C1838186	A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance.	http://purl.obolibrary.org/obo/HP_0003177		Square iliac bones|Squaring of iliac bones
OBO:HP_0003179	Protrusio acetabuli	biolink:OntologyClass	hp	SNOMEDCT_US:59606006|UMLS:C0409495	Intrapelvic bulging of the medial acetabular wall.	http://purl.obolibrary.org/obo/HP_0003179	hposlim_core	Protrusio acetabulae
OBO:HP_0003180	Flat acetabular roof	biolink:OntologyClass	hp	UMLS:C1837485	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.	http://purl.obolibrary.org/obo/HP_0003180	hposlim_core	Flat acetabular roofs|Flattened acetabular roof|Horizontal acetabulae|Horizontal acetabular roof|Horizontal acetabular roofs
OBO:HP_0003182	Shallow acetabular fossae	biolink:OntologyClass	hp	UMLS:C1854910|UMLS:C1860796		http://purl.obolibrary.org/obo/HP_0003182		Shallow acetabula|Shallow acetabulae|Shallow acetabular fossa|Shallow acetabulum
OBO:HP_0003183	Wide pubic symphysis	biolink:OntologyClass	hp	UMLS:C1857190	Abnormally increased width of the pubic symphysis is the midline cartilaginous joint uniting the superior rami of the left and right pubic bones.	http://purl.obolibrary.org/obo/HP_0003183	hposlim_core	Wide symphysis of pubis
OBO:HP_0003184	Decreased hip abduction	biolink:OntologyClass	hp	UMLS:C1836589	Reduced ability to move the femur outward to the side.	http://purl.obolibrary.org/obo/HP_0003184		Limited hip abduction
OBO:HP_0003185	Short greater sciatic notch	biolink:OntologyClass	hp	UMLS:C1866689	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.	http://purl.obolibrary.org/obo/HP_0003185		Short sacroiliac notch|Shortened sacroiliac notches|Small sacroiliac notch
OBO:HP_0003186	Inverted nipples	biolink:OntologyClass	hp	SNOMEDCT_US:82231009|UMLS:C0269269	The presence of nipples that instead of pointing outward are retracted inwards.	http://purl.obolibrary.org/obo/HP_0003186		Inverted nipples|Invaginated nipples
OBO:HP_0003187	Breast hypoplasia	biolink:OntologyClass	hp	SNOMEDCT_US:8915006|UMLS:C0266013	Underdevelopment of the breast.	http://purl.obolibrary.org/obo/HP_0003187		Underdeveloped breasts
OBO:HP_0003189	Long nose	biolink:OntologyClass	hp	UMLS:C1839798	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.	http://purl.obolibrary.org/obo/HP_0003189		Elongated nose|Increased height of nose|Increased length of nose|Increased nasal height|Increased nasal length|Long nose|Nasal elongation
OBO:HP_0003191	Cleft ala nasi	biolink:OntologyClass	hp	UMLS:C1844537	The presence of a notch in the margin of the ala nasi.	http://purl.obolibrary.org/obo/HP_0003191		Cleft nostril|Ala nasi, cleft|Alar clefts|Cleft nasal alae|Notched nasal alae|Nostril coloboma
OBO:HP_0003193	Allergic rhinitis	biolink:OntologyClass	hp	MSH:D065631|SNOMEDCT_US:61582004|UMLS:C0847614|UMLS:C2607914	It is characterized by one or more symptoms including sneezing, itching, nasal congestion, and rhinorrhea.	http://purl.obolibrary.org/obo/HP_0003193		Hay fever|Hayfever|Nasal allergies
OBO:HP_0003194	Short nasal bridge	biolink:OntologyClass	hp	UMLS:C1854689	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.	http://purl.obolibrary.org/obo/HP_0003194		Decreased length of bridge of nose|Decreased length of nasal bridge|Short bridge of nose|Short nasal bridge
OBO:HP_0003196	Short nose	biolink:OntologyClass	hp	SNOMEDCT_US:249310005|UMLS:C0426414|UMLS:C1854114	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.	http://purl.obolibrary.org/obo/HP_0003196	hposlim_core	Decreased length of nose|Short nose|Shortened nose|Small nose|Hypoplastic nose|Nasal hypoplasia
OBO:HP_0003198	Myopathy	biolink:OntologyClass	hp	MSH:D009135|SNOMEDCT_US:129565002|UMLS:C0026848	A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.	http://purl.obolibrary.org/obo/HP_0003198		Muscle tissue disease|Myopathic changes
OBO:HP_0003199	Decreased muscle mass	biolink:OntologyClass	hp	UMLS:C1837108		http://purl.obolibrary.org/obo/HP_0003199		Decreased muscle mass
OBO:HP_0003200	Ragged-red muscle fibers	biolink:OntologyClass	hp	UMLS:C3275417	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.	http://purl.obolibrary.org/obo/HP_0003200		Ragged-red muscle fibres|Mitochondrial proliferation in muscle tissue|Ragged red muscle fibers|Ragged-red fibers
OBO:HP_0003201	Rhabdomyolysis	biolink:OntologyClass	hp	MSH:D012206|SNOMEDCT_US:240131006|SNOMEDCT_US:89010004|UMLS:C0035410	Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream.	http://purl.obolibrary.org/obo/HP_0003201		Breakdown of skeletal muscle
OBO:HP_0003202	Skeletal muscle atrophy	biolink:OntologyClass	hp	MSH:D009133|SNOMEDCT_US:74035001|UMLS:C0234958|UMLS:C0270948|UMLS:C0541794|UMLS:C1843479	The presence of skeletal muscular atrophy (which is also known as amyotrophy).	http://purl.obolibrary.org/obo/HP_0003202		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
OBO:HP_0003203	Impaired oxidative burst	biolink:OntologyClass	hp	UMLS:C4280805	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.	http://purl.obolibrary.org/obo/HP_0003203		Negative NBT reduction test|Negative nitroblue tetrazolium reduction test
OBO:HP_0003204	Intracellular accumulation of autofluorescent lipopigment storage material	biolink:OntologyClass	hp	UMLS:C4025642	The intracellular accumulation of autofluorescent storage material.	http://purl.obolibrary.org/obo/HP_0003204		
OBO:HP_0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material	biolink:OntologyClass	hp	UMLS:C1836852	An intracellular accumulation of autofluorescent lipopigment storage material in a curved pattern.	http://purl.obolibrary.org/obo/HP_0003205		'Curvilinear profiles' ultrastructurally in cells|'curvilinear profiles' ultrastructurally|Curvilinear profiles ultrastructurally|Intracellular curvilinear profiles on ultrastructural analysis
OBO:HP_0003206	Decreased activity of NADPH oxidase	biolink:OntologyClass	hp	UMLS:C1844394		http://purl.obolibrary.org/obo/HP_0003206		
OBO:HP_0003207	Arterial calcification	biolink:OntologyClass	hp	UMLS:C1168153	Pathological deposition of calcium salts in one or more arteries.	http://purl.obolibrary.org/obo/HP_0003207		
OBO:HP_0003208	Fingerprint intracellular accumulation of autofluorescent lipopigment storage material	biolink:OntologyClass	hp	UMLS:C1836851	An intracellular accumulation of autofluorescent lipopigment storage material in a trabecular or fingerprint-like pattern.	http://purl.obolibrary.org/obo/HP_0003208		'Fingerprint profiles' ultrastructurally in cells|Fingerprint profiles ultrastructurally
OBO:HP_0003209	Decreased pyruvate carboxylase activity	biolink:OntologyClass	hp	UMLS:C4025641	A decreased rate of pyruvate carboxylase activity.	http://purl.obolibrary.org/obo/HP_0003209		
OBO:HP_0003210	Decreased methylmalonyl-CoA mutase activity	biolink:OntologyClass	hp	UMLS:C1848579	An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of methylmalonyl-CoA mutase activity.	http://purl.obolibrary.org/obo/HP_0003210		Decreased methylmalonyl CoA mutase activity
OBO:HP_0003212	Increased circulating IgE level	biolink:OntologyClass	hp	UMLS:C0236175	An abnormally increased overall level of immunoglobulin E in blood.	http://purl.obolibrary.org/obo/HP_0003212		Elevated immunoglobulin E|Elevated serum IgE|High immunoglobulin E
OBO:HP_0003213	Deficient excision of UV-induced pyrimidine dimers in DNA	biolink:OntologyClass	hp	UMLS:C4025640		http://purl.obolibrary.org/obo/HP_0003213		
OBO:HP_0003214	Prolonged G2 phase of cell cycle	biolink:OntologyClass	hp	UMLS:C4025639		http://purl.obolibrary.org/obo/HP_0003214		
OBO:HP_0003215	Dicarboxylic aciduria	biolink:OntologyClass	hp	UMLS:C1856432	An increased concentration of dicarboxylic acid in the urine.	http://purl.obolibrary.org/obo/HP_0003215		
OBO:HP_0003216	Generalized amyloid deposition	biolink:OntologyClass	hp	UMLS:C1862968	A diffuse form of amyloidosis.	http://purl.obolibrary.org/obo/HP_0003216		Generalised amyloid deposition
OBO:HP_0003217	Hyperglutaminemia	biolink:OntologyClass	hp	UMLS:C1839533	An increased concentration of glutamine in the blood.	http://purl.obolibrary.org/obo/HP_0003217		High plasma glutamine
OBO:HP_0003218	Oroticaciduria	biolink:OntologyClass	hp	SNOMEDCT_US:124277009|SNOMEDCT_US:47641009|UMLS:C0268128	An increased concentration of orotic acid in the urine.	http://purl.obolibrary.org/obo/HP_0003218		High urine orotic acid levels|Increased urinary orotic acid concentration|Orotic aciduria
OBO:HP_0003219	Ethylmalonic aciduria	biolink:OntologyClass	hp	UMLS:C1865353	An increased concentration of ethylmalonic acid in the urine.	http://purl.obolibrary.org/obo/HP_0003219		
OBO:HP_0003220	Abnormality of chromosome stability	biolink:OntologyClass	hp	MSH:D019457|UMLS:C0376628|UMLS:C1859424	A type of chromosomal aberration characterised by reduced resistance of chromosomes to change or deterioration.	http://purl.obolibrary.org/obo/HP_0003220		
OBO:HP_0003221	Chromosomal breakage induced by crosslinking agents	biolink:OntologyClass	hp	UMLS:C4021737	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.	http://purl.obolibrary.org/obo/HP_0003221		Chromosomal breakage induced by diepoxybutane|Chromosomal breakage induced by mitomycin C
OBO:HP_0003223	Decreased methylcobalamin	biolink:OntologyClass	hp	UMLS:C4021736	Decreased concentration of methylcobalamin. Methylcobalamin is a form of vitamin B12.	http://purl.obolibrary.org/obo/HP_0003223		Methylcobalamin deficiency
OBO:HP_0003224	Increased cellular sensitivity to UV light	biolink:OntologyClass	hp	UMLS:C1857707		http://purl.obolibrary.org/obo/HP_0003224		
OBO:HP_0003225	Reduced coagulation factor V activity	biolink:OntologyClass	hp	MSH:D005166|SNOMEDCT_US:4320005|SNOMEDCT_US:88776002|UMLS:C0015499	Decreased activity of coagulation factor V.	http://purl.obolibrary.org/obo/HP_0003225		Reduced factor V activity|Factor V deficiency
OBO:HP_0003226	Rectilinear intracellular accumulation of autofluorescent lipopigment storage material	biolink:OntologyClass	hp	UMLS:C1850447	An intracellular accumulation of autofluorescent lipopigment storage material in a straight or rectilinear pattern.	http://purl.obolibrary.org/obo/HP_0003226		Rectilinear profiles ultrastructurally
OBO:HP_0003228	Hypernatremia	biolink:OntologyClass	hp	MSH:D006955|SNOMEDCT_US:286926003|SNOMEDCT_US:39355002|UMLS:C0020488	An abnormally increased sodium concentration in the blood.	http://purl.obolibrary.org/obo/HP_0003228		High blood sodium levels
OBO:HP_0003231	Hypertyrosinemia	biolink:OntologyClass	hp	SNOMEDCT_US:56595005|UMLS:C1879362	An increased concentration of tyrosine in the blood.	http://purl.obolibrary.org/obo/HP_0003231		Increased tyrosine in blood|Tyrosinemia
OBO:HP_0003232	Mitochondrial malic enzyme reduced	biolink:OntologyClass	hp	UMLS:C1856697		http://purl.obolibrary.org/obo/HP_0003232		Decreased mitochondrial malic enzyme
OBO:HP_0003233	Decreased HDL cholesterol concentration	biolink:OntologyClass	hp	MSH:D052456|SNOMEDCT_US:190785000|UMLS:C0151691|UMLS:C0473527	An decreased concentration of high-density lipoprotein cholesterol in the blood.	http://purl.obolibrary.org/obo/HP_0003233		Decreased HDL cholesterol|Decreased circulating high-density lipoprotein cholesterol|Low HDL-cholesterol|Decreased circulating high-density lipoprotein levels|Hypoalphalipoproteinemia
OBO:HP_0003234	Decreased plasma carnitine	biolink:OntologyClass	hp	SNOMEDCT_US:421784001|UMLS:C1142132	A decreased concentration of carnitine in the blood.	http://purl.obolibrary.org/obo/HP_0003234		Decreased plasma carnitine|Carnitine deficiency
OBO:HP_0003235	Hypermethioninemia	biolink:OntologyClass	hp	MSH:C564683|SNOMEDCT_US:124283007|SNOMEDCT_US:43123004|SNOMEDCT_US:57835009|UMLS:C0268621	An increased concentration of methionine in the blood.	http://purl.obolibrary.org/obo/HP_0003235		Increased methionine in blood|Methioninemia
OBO:HP_0003236	Elevated serum creatine kinase	biolink:OntologyClass	hp	UMLS:C0151576|UMLS:C0241005	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.	http://purl.obolibrary.org/obo/HP_0003236		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
OBO:HP_0003237	Increased circulating IgG level	biolink:OntologyClass	hp	UMLS:C1858977	An abnormally increased level of immunoglobulin G in blood.	http://purl.obolibrary.org/obo/HP_0003237		Increased IgG level|Increased levels of IgG|Increased total IgG in blood
OBO:HP_0003238	Hyperpepsinogenemia I	biolink:OntologyClass	hp	UMLS:C4025638		http://purl.obolibrary.org/obo/HP_0003238		
OBO:HP_0003239	Phosphoethanolaminuria	biolink:OntologyClass	hp	MSH:C562646|SNOMEDCT_US:55236002|UMLS:C0268412	An increased concentration of phosphoethanolamine in the urine.	http://purl.obolibrary.org/obo/HP_0003239		High urine phosphoethanolamine levels
OBO:HP_0003240	Increased phosphoribosylpyrophosphate synthetase level	biolink:OntologyClass	hp	UMLS:C4025637	Abnormally elevated level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate.	http://purl.obolibrary.org/obo/HP_0003240		Increased PRPS1 activity|Increased phosphoribosyl pyrophosphate synthetase activity
OBO:HP_0003241	External genital hypoplasia	biolink:OntologyClass	hp	UMLS:C1855333	Underdevelopment of part or all of the external reproductive organs.	http://purl.obolibrary.org/obo/HP_0003241		Underdevelopment of external reproductive organs|Hypogenitalism|Small genitalia
OBO:HP_0003244	Penile hypospadias	biolink:OntologyClass	hp	SNOMEDCT_US:204888000|UMLS:C1691215	Location of the urethral opening on the inferior aspect of the penis.	http://purl.obolibrary.org/obo/HP_0003244		
OBO:HP_0003246	Prominent scrotal raphe	biolink:OntologyClass	hp	UMLS:C1852407	Increased size of the ridge of tissue that extends along the midline of the scrotum.	http://purl.obolibrary.org/obo/HP_0003246		Prominent perineal raphe
OBO:HP_0003247	Overgrowth of external genitalia	biolink:OntologyClass	hp	UMLS:C1851722		http://purl.obolibrary.org/obo/HP_0003247		Overgrowth of external genitalia
OBO:HP_0003248	Gonadal tissue inappropriate for external genitalia or chromosomal sex	biolink:OntologyClass	hp	UMLS:C1860268		http://purl.obolibrary.org/obo/HP_0003248		
OBO:HP_0003249	Genital ulcers	biolink:OntologyClass	hp	UMLS:C0151281		http://purl.obolibrary.org/obo/HP_0003249		Genital ulcers
OBO:HP_0003250	Aplasia of the vagina	biolink:OntologyClass	hp	MSH:C536523|SNOMEDCT_US:248871003|SNOMEDCT_US:87380008|UMLS:C0220763|UMLS:C1321884|UMLS:C1841990	Aplasia of the vagina.	http://purl.obolibrary.org/obo/HP_0003250		Absent vagina|Congenital absence of the vagina
OBO:HP_0003251	Male infertility	biolink:OntologyClass	hp	MSH:D007248|SNOMEDCT_US:2904007|UMLS:C0021364		http://purl.obolibrary.org/obo/HP_0003251		Male infertility
OBO:HP_0003252	Anteriorly displaced genitalia	biolink:OntologyClass	hp	UMLS:C1848653		http://purl.obolibrary.org/obo/HP_0003252		
OBO:HP_0003254	Abnormality of DNA repair	biolink:OntologyClass	hp	UMLS:C4021848	An abnormality of the process of DNA repair, that is, of the process of restoring DNA after damage.	http://purl.obolibrary.org/obo/HP_0003254		
OBO:HP_0003256	Abnormality of the coagulation cascade	biolink:OntologyClass	hp	MSH:D001778|SNOMEDCT_US:362970003|SNOMEDCT_US:64779008|UMLS:C0005779	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.	http://purl.obolibrary.org/obo/HP_0003256		Coagulopathy
OBO:HP_0003258	Glyoxalase deficiency	biolink:OntologyClass	hp	UMLS:C3279658		http://purl.obolibrary.org/obo/HP_0003258		
OBO:HP_0003259	Elevated serum creatinine	biolink:OntologyClass	hp	SNOMEDCT_US:166717003|UMLS:C0700225	An increased amount of creatinine in the blood.	http://purl.obolibrary.org/obo/HP_0003259		Elevated creatinine|High blood creatinine level|Increased creatinine|Increased serum creatinine
OBO:HP_0003260	Hydroxyprolinemia	biolink:OntologyClass	hp	MSH:C562669|SNOMEDCT_US:25739007|UMLS:C0268531	An increased concentration of hydroxyproline in the blood.	http://purl.obolibrary.org/obo/HP_0003260		High blood hydroxyproline levels
OBO:HP_0003261	Increased circulating IgA level	biolink:OntologyClass	hp	UMLS:C0239984	An abnormally increased level of immunoglobulin A in blood.	http://purl.obolibrary.org/obo/HP_0003261		Elevated IgA|Elevated serum IgA|IgA hypergammaglobulinemia|Increased levels of IgA|Increased serum IgA
OBO:HP_0003262	Smooth muscle antibody positivity	biolink:OntologyClass	hp	SNOMEDCT_US:310290006|UMLS:C0241185	The presence in serum of antibodies against smooth muscle.	http://purl.obolibrary.org/obo/HP_0003262		Anti-smooth muscle antibody positivity|Smooth muscle antibody positive
OBO:HP_0003264	Deficiency of N-acetylglucosamine-1-phosphotransferase	biolink:OntologyClass	hp	MSH:D009081|SNOMEDCT_US:70199000|UMLS:C0020725		http://purl.obolibrary.org/obo/HP_0003264		
OBO:HP_0003265	Neonatal hyperbilirubinemia	biolink:OntologyClass	hp	MSH:D051556|SNOMEDCT_US:281610001|UMLS:C0857007	A type of hyperbilirubinemia with neonatal onset.	http://purl.obolibrary.org/obo/HP_0003265		High blood bilirubin levels in neonate|Hyperbilirubinemia, neonatal
OBO:HP_0003267	Reduced orotidine 5-prime phosphate decarboxylase level	biolink:OntologyClass	hp	UMLS:C4020845|UMLS:C4025636	An abnormal decrease in orotidine 5'-phosphate decarboxylase level.	http://purl.obolibrary.org/obo/HP_0003267		Orotidine-5-prime-phosphate decarboxylase defect
OBO:HP_0003268	Argininuria	biolink:OntologyClass	hp	UMLS:C4025635	A increased concentration of arginine in the urine.	http://purl.obolibrary.org/obo/HP_0003268		High urine arginine levels
OBO:HP_0003269	Sudanophilic leukodystrophy	biolink:OntologyClass	hp	MSH:D020371|SNOMEDCT_US:64855000|UMLS:C0205711		http://purl.obolibrary.org/obo/HP_0003269		
OBO:HP_0003270	Abdominal distention	biolink:OntologyClass	hp	SNOMEDCT_US:41931001|SNOMEDCT_US:60728008|UMLS:C0000731	Distention of the abdomen.	http://purl.obolibrary.org/obo/HP_0003270	hposlim_core	Abdominal bloating|Abdominal swelling|Belly bloating|Bloating|Abdominal distension|Distended abdomen
OBO:HP_0003271	Visceromegaly	biolink:OntologyClass	hp	SNOMEDCT_US:28543008|UMLS:C0042782	Abnormal increased size of the viscera of the abdomen.	http://purl.obolibrary.org/obo/HP_0003271		
OBO:HP_0003272	Abnormality of the hip bone	biolink:OntologyClass	hp	UMLS:C4021735	An abnormality of the hip bone.	http://purl.obolibrary.org/obo/HP_0003272		Abnormality of the hip bone|Abnormality of the hips
OBO:HP_0003273	Hip contracture	biolink:OntologyClass	hp	SNOMEDCT_US:202283002|UMLS:C0409354		http://purl.obolibrary.org/obo/HP_0003273		Flexion contracture of hips|Flexion contractures of hips|Hip contractures|Hip flexion contractures
OBO:HP_0003274	Hypoplastic acetabulae	biolink:OntologyClass	hp	UMLS:C1846442	Underdeveloped acetabulae.	http://purl.obolibrary.org/obo/HP_0003274	hposlim_core	Acetabular hypoplasia|Hypoplastic acetabula
OBO:HP_0003275	Narrow pelvis bone	biolink:OntologyClass	hp	UMLS:C1848103	Reduced side to side width of the pelvis.	http://purl.obolibrary.org/obo/HP_0003275	hposlim_core	Narrow pelvis|Narrow pelvis bone
OBO:HP_0003276	Pelvic bone exostoses	biolink:OntologyClass	hp	UMLS:C1844689	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.	http://purl.obolibrary.org/obo/HP_0003276		Pelvic exostoses
OBO:HP_0003277	Constricted iliac wings	biolink:OntologyClass	hp	UMLS:C1854785		http://purl.obolibrary.org/obo/HP_0003277		
OBO:HP_0003278	Square pelvis bone	biolink:OntologyClass	hp	UMLS:C1849953	An abnormally squared appearance of the bony pelvis, a normally rounded or basin-shaped structure.	http://purl.obolibrary.org/obo/HP_0003278		Square pelvis|Square pelvis bone|Squared off pelvis
OBO:HP_0003279	Coxa magna	biolink:OntologyClass	hp	MSH:D000070603|SNOMEDCT_US:296041000119103|UMLS:C1860826	Widening of the femoral head and neck.	http://purl.obolibrary.org/obo/HP_0003279		
OBO:HP_0003281	Increased circulating ferritin concentration	biolink:OntologyClass	hp	UMLS:C0241013|UMLS:C0743912|UMLS:C3854388	Abnormal raised concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood.	http://purl.obolibrary.org/obo/HP_0003281		Elevated serum ferritin|High ferritin level|Increased ferritin|Increased serum ferritin level|Hyperferritinaemia|Hyperferritinemia|Increased plasma ferritin
OBO:HP_0003282	Low alkaline phosphatase	biolink:OntologyClass	hp	UMLS:C1860130	Abnormally reduced serum levels of alkaline phosphatase.	http://purl.obolibrary.org/obo/HP_0003282		Low ALP|Decreased serum alkaline phosphatase
OBO:HP_0003286	Cystathioninemia	biolink:OntologyClass	hp	SNOMEDCT_US:6669004|UMLS:C0268618	An increased concentration of cystathionine in the blood.	http://purl.obolibrary.org/obo/HP_0003286		High blood cystathionine levels
OBO:HP_0003287	Abnormality of mitochondrial metabolism	biolink:OntologyClass	hp	UMLS:C4021734	A functional anomaly of mitochondria.	http://purl.obolibrary.org/obo/HP_0003287		Mitochondrial dysfunction
OBO:HP_0003288	Mitochondrial propionyl-CoA carboxylase defect	biolink:OntologyClass	hp	UMLS:C4025634		http://purl.obolibrary.org/obo/HP_0003288		Mitochondrial PCC defect
OBO:HP_0003292	Decreased serum leptin	biolink:OntologyClass	hp	UMLS:C1837802	A decreased concentration of leptin in the blood.	http://purl.obolibrary.org/obo/HP_0003292		Decreased serum leptin|Reduced circulating leptin level
OBO:HP_0003295	obsolete Impaired FSH and LH secretion	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0003295		
OBO:HP_0003296	Hyperthreoninuria	biolink:OntologyClass	hp	UMLS:C2673931	An increased concentration of threonine in the urine.	http://purl.obolibrary.org/obo/HP_0003296		High urine threonine levels
OBO:HP_0003297	Hyperlysinuria	biolink:OntologyClass	hp	UMLS:C4021733	An increased concentration of lysine in the urine.	http://purl.obolibrary.org/obo/HP_0003297		High urine lysine levels|Lysinuria
OBO:HP_0003298	Spina bifida occulta	biolink:OntologyClass	hp	MSH:D016136|SNOMEDCT_US:76916001|UMLS:C0080174	The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin.	http://purl.obolibrary.org/obo/HP_0003298	hposlim_core	
OBO:HP_0003300	Ovoid vertebral bodies	biolink:OntologyClass	hp	UMLS:C1855665|UMLS:C4020844	When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval.	http://purl.obolibrary.org/obo/HP_0003300		Oval vertebral bodies|Ovoid vertebrae|Ovoid-shaped vertebral bodies|Bullet vertebral body
OBO:HP_0003301	Irregular vertebral endplates	biolink:OntologyClass	hp	UMLS:C1842153	An irregular surface of the vertebral end plates, which are normally relatively smooth.	http://purl.obolibrary.org/obo/HP_0003301	hposlim_core	Irregular end plates|Irregular endplates|end-plate irregularities|endplate irregularities|endplate irregularity|irregular vertebral plates|vertebral endplate irregularity
OBO:HP_0003302	Spondylolisthesis	biolink:OntologyClass	hp	MSH:D013168|SNOMEDCT_US:274152003|UMLS:C0038016	Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the vertebra.	http://purl.obolibrary.org/obo/HP_0003302		Displacement of one backbone compared to another|Slipped backbone|Spondylolithesis
OBO:HP_0003304	Spondylolysis	biolink:OntologyClass	hp	MSH:D013169|SNOMEDCT_US:240221008|UMLS:C0038018	Spondylolysis is an osseous defect of the pars interarticularis, thought to be a developmental or acquired stress fracture secondary to chronic low-grade trauma.	http://purl.obolibrary.org/obo/HP_0003304	hposlim_core	
OBO:HP_0003305	Block vertebrae	biolink:OntologyClass	hp	UMLS:C1844753	Congenital synostosis between two or more adjacent vertebrae (partial or complete fusion of adjacent vertabral bodies).	http://purl.obolibrary.org/obo/HP_0003305		
OBO:HP_0003306	Spinal rigidity	biolink:OntologyClass	hp	UMLS:C1858025	Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion.	http://purl.obolibrary.org/obo/HP_0003306		Reduced spine movement|Rigid spine
OBO:HP_0003307	Hyperlordosis	biolink:OntologyClass	hp	MSH:D008141|SNOMEDCT_US:249710008|SNOMEDCT_US:61960001|UMLS:C0024003	Abnormally increased cuvature (anterior concavity) of the lumbar or cervical spine.	http://purl.obolibrary.org/obo/HP_0003307	hposlim_core	Prominent swayback|Lordosis
OBO:HP_0003308	Cervical subluxation	biolink:OntologyClass	hp	UMLS:C1846798	A partial dislocation of one or more intervertebral joints in the cervical vertebral column.	http://purl.obolibrary.org/obo/HP_0003308		
OBO:HP_0003309	Ovoid thoracolumbar vertebrae	biolink:OntologyClass	hp	UMLS:C1868556		http://purl.obolibrary.org/obo/HP_0003309		Ovoid thoracic and lumbar vertebrae
OBO:HP_0003310	Abnormality of the odontoid process	biolink:OntologyClass	hp	UMLS:C1864794	Abnormality of the dens of the axis, which is also known as the odontoid process.	http://purl.obolibrary.org/obo/HP_0003310		Abnormal odontoid peg|Abnormal odontoid process
OBO:HP_0003311	Hypoplasia of the odontoid process	biolink:OntologyClass	hp	UMLS:C1846439	Developmental hypoplasia of the dens of the axis.	http://purl.obolibrary.org/obo/HP_0003311	hposlim_core	Hypoplastic odontoid process|Odontoid hypoplasia|Small odontoid peg|Small odontoid process
OBO:HP_0003312	Abnormal form of the vertebral bodies	biolink:OntologyClass	hp	UMLS:C1839326	Abnormal morphology of vertebral body.	http://purl.obolibrary.org/obo/HP_0003312		Abnormally shaped vertebrae
OBO:HP_0003316	Butterfly vertebrae	biolink:OntologyClass	hp	UMLS:C1844752	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.	http://purl.obolibrary.org/obo/HP_0003316		Butterfly vertebrae|Anterior rachischisis|Sagittal clefting of vertebrae
OBO:HP_0003318	Cervical spine hypermobility	biolink:OntologyClass	hp	SNOMEDCT_US:298186005|UMLS:C0574967		http://purl.obolibrary.org/obo/HP_0003318		Cervical spine joint hypermobility
OBO:HP_0003319	Abnormality of the cervical spine	biolink:OntologyClass	hp	UMLS:C1852464	Any abnormality of the cervical vertebral column.	http://purl.obolibrary.org/obo/HP_0003319		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
OBO:HP_0003320	C1-C2 subluxation	biolink:OntologyClass	hp	UMLS:C1848446	A partial dislocation of the atlantoaxial joints.	http://purl.obolibrary.org/obo/HP_0003320		
OBO:HP_0003321	Biconcave flattened vertebrae	biolink:OntologyClass	hp	UMLS:C1833753		http://purl.obolibrary.org/obo/HP_0003321		
OBO:HP_0003323	Progressive muscle weakness	biolink:OntologyClass	hp	UMLS:C0240421		http://purl.obolibrary.org/obo/HP_0003323		Muscle weakness, progressive|Progressive muscular weakness
OBO:HP_0003324	Generalized muscle weakness	biolink:OntologyClass	hp	UMLS:C0746674	Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.	http://purl.obolibrary.org/obo/HP_0003324		Generalised muscle weakness|Generalized weakness|Muscle weakness, diffuse|Muscle weakness, generalized
OBO:HP_0003325	Limb-girdle muscle weakness	biolink:OntologyClass	hp	UMLS:C1858127	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.	http://purl.obolibrary.org/obo/HP_0003325		Limb girdle weakness|Muscle weakness, limb-girdle|Muscular weakness, limb-girdle
OBO:HP_0003326	Myalgia	biolink:OntologyClass	hp	MSH:D063806|SNOMEDCT_US:68962001|UMLS:C0231528	Pain in muscle.	http://purl.obolibrary.org/obo/HP_0003326		Muscle ache|Muscle pain|Myalgias
OBO:HP_0003327	Axial muscle weakness	biolink:OntologyClass	hp	UMLS:C1843697	Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs).	http://purl.obolibrary.org/obo/HP_0003327		
OBO:HP_0003328	Abnormal hair laboratory examination	biolink:OntologyClass	hp	UMLS:C4025632		http://purl.obolibrary.org/obo/HP_0003328		
OBO:HP_0003329	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes	biolink:OntologyClass	hp	UMLS:C4025631		http://purl.obolibrary.org/obo/HP_0003329		
OBO:HP_0003330	Abnormal bone structure	biolink:OntologyClass	hp	UMLS:C4025630	Any anomaly in the composite material or the layered arrangement of the bony skeleton.	http://purl.obolibrary.org/obo/HP_0003330		
OBO:HP_0003332	Absent primary metaphyseal spongiosa	biolink:OntologyClass	hp	UMLS:C3277126		http://purl.obolibrary.org/obo/HP_0003332		
OBO:HP_0003333	Increased serum beta-hexosaminidase	biolink:OntologyClass	hp	UMLS:C2673361		http://purl.obolibrary.org/obo/HP_0003333		
OBO:HP_0003334	Elevated circulating catecholamine level	biolink:OntologyClass	hp	UMLS:C4025629	An abnormal increase in catecholamine concentration in the blood.	http://purl.obolibrary.org/obo/HP_0003334		
OBO:HP_0003335	obsolete Low gonadotropins (secondary hypogonadism)	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0003335		
OBO:HP_0003336	Abnormal enchondral ossification	biolink:OntologyClass	hp	UMLS:C4025628	An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage.	http://purl.obolibrary.org/obo/HP_0003336		
OBO:HP_0003337	Reduced prothrombin consumption	biolink:OntologyClass	hp	UMLS:C4021732	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.	http://purl.obolibrary.org/obo/HP_0003337		Poor prothrombin consumption
OBO:HP_0003338	Focal necrosis of right ventricular muscle cells	biolink:OntologyClass	hp	UMLS:C4025627		http://purl.obolibrary.org/obo/HP_0003338		
OBO:HP_0003339	Pyrimidine-responsive megaloblastic anemia	biolink:OntologyClass	hp	UMLS:C4021731	A type of megaloblastic anemia that improves upon administration of pyrimidine supplements such as uridylic acid and cytidylic acid.	http://purl.obolibrary.org/obo/HP_0003339		Pyrimidine-responsive megaloblastic anaemia|Anemia corrected by uridylic acid and cytidylic acid
OBO:HP_0003340	obsolete Abnormal dermatological laboratory findings	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0003340		
OBO:HP_0003341	Junctional split	biolink:OntologyClass	hp	UMLS:C4021730	The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin.	http://purl.obolibrary.org/obo/HP_0003341		Subepidermal blistering with cleavage in the lamina lucida
OBO:HP_0003343	Reduced glutathione synthetase level	biolink:OntologyClass	hp	MSH:C536835|SNOMEDCT_US:124706000|SNOMEDCT_US:234589002|SNOMEDCT_US:39112005|UMLS:C0398746	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.	http://purl.obolibrary.org/obo/HP_0003343		Glutathione synthetase deficiency
OBO:HP_0003344	3-Methylglutaric aciduria	biolink:OntologyClass	hp	UMLS:C3151952		http://purl.obolibrary.org/obo/HP_0003344		3-methylglutaricaciduria
OBO:HP_0003345	Elevated urinary norepinephrine	biolink:OntologyClass	hp	UMLS:C4025626	An increased concentration of noradrenaline in the urine.	http://purl.obolibrary.org/obo/HP_0003345		
OBO:HP_0003347	Impaired lymphocyte transformation with phytohemagglutinin	biolink:OntologyClass	hp	UMLS:C4025625	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.	http://purl.obolibrary.org/obo/HP_0003347		
OBO:HP_0003348	Hyperalaninemia	biolink:OntologyClass	hp	MSH:C562684|SNOMEDCT_US:2359002|UMLS:C0268630|UMLS:C1839424|UMLS:C1849489	An increased concentration of alanine in the blood.	http://purl.obolibrary.org/obo/HP_0003348		Increased blood alanine|Increased serum alanine
OBO:HP_0003349	Low cholesterol esterification rate	biolink:OntologyClass	hp	UMLS:C1843371	A reduction in the rate of cholesterol esterification.	http://purl.obolibrary.org/obo/HP_0003349		
OBO:HP_0003351	Decreased circulating renin level	biolink:OntologyClass	hp	UMLS:C1845206	An decreased level of renin in the blood.	http://purl.obolibrary.org/obo/HP_0003351		Decreased plasma renin activity|Low plasma renin activity|Suppressed plasma renin activity
OBO:HP_0003352	Endopolyploidy on chromosome studies of bone marrow	biolink:OntologyClass	hp	UMLS:C4025624	An increase in the number of chromosome sets per cell in bone marrow cells.	http://purl.obolibrary.org/obo/HP_0003352		
OBO:HP_0003353	Propionyl-CoA carboxylase deficiency	biolink:OntologyClass	hp	MSH:D056693|SNOMEDCT_US:124718009|SNOMEDCT_US:69080001|UMLS:C0268579	An abnormality of amino acid metabolism characterized by a decreased level of propionyl-CoA carboxylase.	http://purl.obolibrary.org/obo/HP_0003353		
OBO:HP_0003354	Hyperthreoninemia	biolink:OntologyClass	hp	UMLS:C1848861	An increased concentration of threonine in the blood.	http://purl.obolibrary.org/obo/HP_0003354		High blood threonine levels|Elevated circulating threonine
OBO:HP_0003355	Aminoaciduria	biolink:OntologyClass	hp	SNOMEDCT_US:35912001|UMLS:C0238621|UMLS:C4020843	An increased concentration of an amino acid in the urine.	http://purl.obolibrary.org/obo/HP_0003355		High urine amino acid levels|Increased levels of animo acids in urine|Abnormal urinary amino-acid findings|Hyperaminoaciduria
OBO:HP_0003357	Thymic hormone decreased	biolink:OntologyClass	hp	UMLS:C1857652	A reduction in the level of thymic horomone.	http://purl.obolibrary.org/obo/HP_0003357		Decreased thymic hormone
OBO:HP_0003358	Elevated intracellular cystine	biolink:OntologyClass	hp	UMLS:C4025623	An increased concentration of cystine within cells. This finding can be demonstrated on leukocytes, but is not specific to blood cells.	http://purl.obolibrary.org/obo/HP_0003358		
OBO:HP_0003359	Decreased urinary sulfate	biolink:OntologyClass	hp	UMLS:C1848958	Decreased concentration of sulfate in the urine.	http://purl.obolibrary.org/obo/HP_0003359		Decreased urinary sulfate|Decreased urinary sulphate
OBO:HP_0003361	Tryptophanuria	biolink:OntologyClass	hp	SNOMEDCT_US:18789002|UMLS:C0268472	An increased concentration of tryptophan in the urine.	http://purl.obolibrary.org/obo/HP_0003361		High urine tryptophan levels
OBO:HP_0003362	Increased VLDL cholesterol concentration	biolink:OntologyClass	hp	UMLS:C4021729	An increase in the amount of very-low-density lipoprotein cholesterol in the blood.	http://purl.obolibrary.org/obo/HP_0003362		Increased plasma VLDL cholesterol|Increased circulating very-low-density lipoprotein cholesterol|Increased circulating very-low-density lipoprotein levels
OBO:HP_0003363	Abdominal situs inversus	biolink:OntologyClass	hp	Fyler:3816|MSH:D012857|SNOMEDCT_US:27317008|SNOMEDCT_US:43876007|UMLS:C0037221	A left-right reversal (or "mirror reflection") of the anatomical location of the viscera of the abdomen.	http://purl.obolibrary.org/obo/HP_0003363		Situs inversus visceralis|Situs inversus viscerum
OBO:HP_0003365	Arthralgia of the hip	biolink:OntologyClass	hp	SNOMEDCT_US:49218002|UMLS:C0019559	Joint pain affecting the hip.	http://purl.obolibrary.org/obo/HP_0003365		Hip joint pain|Coxalgia|Hip arthralgia
OBO:HP_0003366	Abnormal femoral neck/head morphology	biolink:OntologyClass	hp	UMLS:C4025622		http://purl.obolibrary.org/obo/HP_0003366		Abnormal neck or head of thigh bone|Abnormality of the femoral neck or head region
OBO:HP_0003367	Abnormal femoral neck morphology	biolink:OntologyClass	hp	UMLS:C4025621	An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).	http://purl.obolibrary.org/obo/HP_0003367		Abnormal neck of thigh bone|Abnormality of the femoral neck
OBO:HP_0003368	Abnormal femoral head morphology	biolink:OntologyClass	hp	UMLS:C4025620	An abnormality of the femoral head.	http://purl.obolibrary.org/obo/HP_0003368		Abnormal head of thigh bone|Abnormality of the femoral head
OBO:HP_0003370	Flat capital femoral epiphysis	biolink:OntologyClass	hp	UMLS:C1842155	An abnormal flattening of the proximal epiphysis of the femur.	http://purl.obolibrary.org/obo/HP_0003370		Flat end part of innermost thighbone|Flat capital femoral epiphyses|Flat femoral capital epiphyses|Flat proximal femoral epiphyses|Flattened proximal femoral epiphyses
OBO:HP_0003371	Enlargement of the proximal femoral epiphysis	biolink:OntologyClass	hp	UMLS:C1859697	An abnormal enlargement of the proximal epiphysis of the femur.	http://purl.obolibrary.org/obo/HP_0003371		Enlarged end part of innermost thighbone|Enlarged capital femoral epiphyses
OBO:HP_0003375	Narrow greater sciatic notch	biolink:OntologyClass	hp	SNOMEDCT_US:289457006|UMLS:C0566888	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.	http://purl.obolibrary.org/obo/HP_0003375		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
OBO:HP_0003376	Steppage gait	biolink:OntologyClass	hp	MSH:D020233|SNOMEDCT_US:27253007|UMLS:C0427149	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.	http://purl.obolibrary.org/obo/HP_0003376		High stepping|'steppage' gait
OBO:HP_0003378	Axonal degeneration/regeneration	biolink:OntologyClass	hp	UMLS:C1968790	A pattern of simultaneous degeneration and regeneration of axons (see comment).	http://purl.obolibrary.org/obo/HP_0003378		Axon degeneration and regeneration
OBO:HP_0003380	Decreased number of peripheral myelinated nerve fibers	biolink:OntologyClass	hp	UMLS:C1858285	A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy).	http://purl.obolibrary.org/obo/HP_0003380		Decreased number of peripheral myelinated nerve fibres|Decreased number of large and small myelinated fibers|Loss of myelinated fibers
OBO:HP_0003382	Hypertrophic nerve changes	biolink:OntologyClass	hp	UMLS:C1832776		http://purl.obolibrary.org/obo/HP_0003382		
OBO:HP_0003383	Onion bulb formation	biolink:OntologyClass	hp	UMLS:C1847906	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.	http://purl.obolibrary.org/obo/HP_0003383		'Onion bulb' formations|Onion bulb formations
OBO:HP_0003384	Peripheral axonal atrophy	biolink:OntologyClass	hp	UMLS:C4025619	Atrophic changes of axons of the peripheral nervous system.	http://purl.obolibrary.org/obo/HP_0003384		
OBO:HP_0003387	Decreased number of large peripheral myelinated nerve fibers	biolink:OntologyClass	hp	UMLS:C1859606	A reduced number of large myelinated nerve fibers.	http://purl.obolibrary.org/obo/HP_0003387		Decreased number of large peripheral myelinated nerve fibres|Depletion of large myelinated fibers|Loss of large myelinated fibers|Loss of larger myelinated nerve fibers
OBO:HP_0003388	Easy fatigability	biolink:OntologyClass	hp	SNOMEDCT_US:248268002|UMLS:C0424585|UMLS:C1837098	Increased susceptibility to fatigue.	http://purl.obolibrary.org/obo/HP_0003388		Tired easily
OBO:HP_0003390	Sensory axonal neuropathy	biolink:OntologyClass	hp	UMLS:C1842587|UMLS:C1970883	An axonal neuropathy of peripheral sensory nerves.	http://purl.obolibrary.org/obo/HP_0003390		Axonal sensory neuropathy|Peripheral sensory axonal neuropathy
OBO:HP_0003391	Gowers sign	biolink:OntologyClass	hp	SNOMEDCT_US:298294005|SNOMEDCT_US:85905009|UMLS:C0234182|UMLS:C0575071	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.	http://purl.obolibrary.org/obo/HP_0003391		Gower sign|Positive Gower sign|Positive Gowers sign
OBO:HP_0003392	First dorsal interossei muscle weakness	biolink:OntologyClass	hp	UMLS:C1832277		http://purl.obolibrary.org/obo/HP_0003392		
OBO:HP_0003393	Thenar muscle atrophy	biolink:OntologyClass	hp	UMLS:C1864715	Wasting of thenar muscles, which are located on palm of the hand at the base of the thumb.	http://purl.obolibrary.org/obo/HP_0003393		Thenar atrophy
OBO:HP_0003394	Muscle spasm	biolink:OntologyClass	hp	MSH:D009120|SNOMEDCT_US:55300003|UMLS:C0026821	Sudden and involuntary contractions of one or more muscles.	http://purl.obolibrary.org/obo/HP_0003394		Muscle cramps
OBO:HP_0003396	Syringomyelia	biolink:OntologyClass	hp	MSH:D013595|SNOMEDCT_US:111496009|UMLS:C0039144	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.	http://purl.obolibrary.org/obo/HP_0003396		Fluid-filled cyst in spinal cord|Syrinx
OBO:HP_0003397	Generalized hypotonia due to defect at the neuromuscular junction	biolink:OntologyClass	hp	UMLS:C1853950		http://purl.obolibrary.org/obo/HP_0003397		Generalised hypotonia due to defect at the neuromuscular junction
OBO:HP_0003398	Abnormal synaptic transmission at the neuromuscular junction	biolink:OntologyClass	hp	UMLS:C4020842|UMLS:C4025618	Any abnormality of the neuromuscular junction, which is the synapse between the motor end plate of a motor neuron and the skeletal muscle fibers.	http://purl.obolibrary.org/obo/HP_0003398		Abnormality of neuromuscular transmission
OBO:HP_0003400	Basal lamina onion bulb formation	biolink:OntologyClass	hp	UMLS:C1866637	A type of onion bulb formation prominently affecting the area of the basal lamina.	http://purl.obolibrary.org/obo/HP_0003400		Basal lamina 'onion bulb' formations on nerve biopsy
OBO:HP_0003401	Paresthesia	biolink:OntologyClass	hp	MSH:D010292|SNOMEDCT_US:91019004|UMLS:C0030554	Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.	http://purl.obolibrary.org/obo/HP_0003401		Pins and needles feeling|Tingling|Paresthesias
OBO:HP_0003402	Decreased miniature endplate potentials	biolink:OntologyClass	hp	UMLS:C1853952	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.	http://purl.obolibrary.org/obo/HP_0003402		Decreased MEPP|Small miniature endplate currents|Small miniature endplate potentials
OBO:HP_0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	biolink:OntologyClass	hp	UMLS:C4020841|UMLS:C4021728	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.	http://purl.obolibrary.org/obo/HP_0003403		EMG: decremental response of CMAP to repetitive nerve stimulation|EMG: decrement at repetitive stimulation
OBO:HP_0003405	Diffuse axonal swelling	biolink:OntologyClass	hp	UMLS:C1865417		http://purl.obolibrary.org/obo/HP_0003405		
OBO:HP_0003406	Peripheral nerve compression	biolink:OntologyClass	hp	UMLS:C1851414		http://purl.obolibrary.org/obo/HP_0003406		
OBO:HP_0003409	Distal sensory impairment of all modalities	biolink:OntologyClass	hp	UMLS:C1836527		http://purl.obolibrary.org/obo/HP_0003409		Distal sensory loss to all modalities
OBO:HP_0003411	Proximal femoral metaphyseal irregularity	biolink:OntologyClass	hp	UMLS:C1836320	Irregularity of the normally smooth surface of the proximal metaphysis of the femur.	http://purl.obolibrary.org/obo/HP_0003411		Irregular proximal femoral metaphyses
OBO:HP_0003413	Atlantoaxial abnormality	biolink:OntologyClass	hp	UMLS:C4025617	An anomaly of the atlantoaxial joint, i.e., of the joint between the first (atlas) and second (axis) cervical vertebrae.	http://purl.obolibrary.org/obo/HP_0003413		
OBO:HP_0003414	Atlantoaxial dislocation	biolink:OntologyClass	hp	SNOMEDCT_US:263042007|SNOMEDCT_US:45179004|UMLS:C0263905	Partial dislocation of the atlantoaxial joint.	http://purl.obolibrary.org/obo/HP_0003414		Atlanto-axial subluxation|Atlantoaxial subluxation
OBO:HP_0003416	Spinal canal stenosis	biolink:OntologyClass	hp	UMLS:C1861329	An abnormal narrowing of the spinal canal.	http://purl.obolibrary.org/obo/HP_0003416	hposlim_core	Narrow spinal canal|Spinal stenosis
OBO:HP_0003417	Coronal cleft vertebrae	biolink:OntologyClass	hp	UMLS:C1834954	Frontal schisis (cleft or cleavage) of vertebral bodies.	http://purl.obolibrary.org/obo/HP_0003417		Coronal clefts|Coronal vertebral clefts|Vertebral coronal clefts|coronal cleft of vertebrae
OBO:HP_0003418	Back pain	biolink:OntologyClass	hp	MSH:D001416|SNOMEDCT_US:161891005|UMLS:C0004604	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back.	http://purl.obolibrary.org/obo/HP_0003418		Back pain
OBO:HP_0003419	Low back pain	biolink:OntologyClass	hp	MSH:D017116|SNOMEDCT_US:279039007|UMLS:C0024031	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back.	http://purl.obolibrary.org/obo/HP_0003419		Lower back pain
OBO:HP_0003421	obsolete Platyspondyly (childhood)	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0003421		
OBO:HP_0003422	Vertebral segmentation defect	biolink:OntologyClass	hp	SNOMEDCT_US:205455005|UMLS:C0432163	An abnormality related to a defect of vertebral separation during development.	http://purl.obolibrary.org/obo/HP_0003422	hposlim_core	Abnormal spinal segmentation
OBO:HP_0003423	Thoracolumbar kyphoscoliosis	biolink:OntologyClass	hp	UMLS:C1859335		http://purl.obolibrary.org/obo/HP_0003423		Dorsolumbar kyphosis
OBO:HP_0003426	First dorsal interossei muscle atrophy	biolink:OntologyClass	hp	UMLS:C1832278		http://purl.obolibrary.org/obo/HP_0003426		
OBO:HP_0003427	Thenar muscle weakness	biolink:OntologyClass	hp	UMLS:C1832276		http://purl.obolibrary.org/obo/HP_0003427		
OBO:HP_0003429	CNS hypomyelination	biolink:OntologyClass	hp	SNOMEDCT_US:111007000|UMLS:C0544820|UMLS:C4025616	Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis.	http://purl.obolibrary.org/obo/HP_0003429		hypomyelination
OBO:HP_0003431	Decreased motor nerve conduction velocity	biolink:OntologyClass	hp	UMLS:C1858729	A type of decreased nerve conduction velocity that affects the motor neuron.	http://purl.obolibrary.org/obo/HP_0003431		Decreased motor NCV|Decreased motor nerve conduction velocities|Reduced motor nerve conduction velocity
OBO:HP_0003434	Sensory ataxic neuropathy	biolink:OntologyClass	hp	UMLS:C1843859		http://purl.obolibrary.org/obo/HP_0003434		
OBO:HP_0003435	Cold-induced hand cramps	biolink:OntologyClass	hp	UMLS:C1832279		http://purl.obolibrary.org/obo/HP_0003435		
OBO:HP_0003436	Prolonged miniature endplate currents	biolink:OntologyClass	hp	UMLS:C1864238	An abnormal prolongation of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction.	http://purl.obolibrary.org/obo/HP_0003436		Prolonged MEPC|Prolonged MEPP|Prolonged miniature endplate potentials
OBO:HP_0003438	Absent Achilles reflex	biolink:OntologyClass	hp	MSH:D012021|SNOMEDCT_US:274818004|UMLS:C0558845	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.	http://purl.obolibrary.org/obo/HP_0003438		Absent ankle reflexes
OBO:HP_0003440	Horizontal sacrum	biolink:OntologyClass	hp	UMLS:C1850558		http://purl.obolibrary.org/obo/HP_0003440	hposlim_core	
OBO:HP_0003443	Decreased size of nerve terminals	biolink:OntologyClass	hp	UMLS:C4025615	A reduction in the size of nerve terminals.	http://purl.obolibrary.org/obo/HP_0003443		
OBO:HP_0003444	EMG: chronic denervation signs	biolink:OntologyClass	hp	UMLS:C4025614	Evidence of chronic denervation on electromyography.	http://purl.obolibrary.org/obo/HP_0003444		
OBO:HP_0003445	EMG: neuropathic changes	biolink:OntologyClass	hp	UMLS:C4021727	The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials).	http://purl.obolibrary.org/obo/HP_0003445		EMG: neurogenic abnormalities|EMG: neurogenic changes|EMG: neurogenic findings
OBO:HP_0003447	Axonal loss	biolink:OntologyClass	hp	UMLS:C1832338	A reduction in the number of axons in the peripheral nervous system.	http://purl.obolibrary.org/obo/HP_0003447		
OBO:HP_0003448	Decreased sensory nerve conduction velocity	biolink:OntologyClass	hp	UMLS:C1849148	Reduced speed of conduction of the action potential along a sensory nerve.	http://purl.obolibrary.org/obo/HP_0003448		Decreased sensory NCV|Decreased sensory nerve conduction velocities
OBO:HP_0003449	Cold-induced muscle cramps	biolink:OntologyClass	hp	UMLS:C1861675	Sudden and involuntary contractions of one or more muscles brought on by exposure to cold temperatures.	http://purl.obolibrary.org/obo/HP_0003449		
OBO:HP_0003450	Axonal regeneration	biolink:OntologyClass	hp	UMLS:C1854454	The presence of axonal regeneration following a previous axonal lesion.	http://purl.obolibrary.org/obo/HP_0003450		Regenerative activity on nerve biopsy
OBO:HP_0003451	Increased rate of premature chromosome condensation	biolink:OntologyClass	hp	UMLS:C4025613	An increased rate of premature chromosome condensation.	http://purl.obolibrary.org/obo/HP_0003451		
OBO:HP_0003452	Increased serum iron	biolink:OntologyClass	hp	SNOMEDCT_US:165624002|UMLS:C0151900		http://purl.obolibrary.org/obo/HP_0003452		
OBO:HP_0003453	Antineutrophil antibody positivity	biolink:OntologyClass	hp	UMLS:C1858981	The presence of autoantibodies in the serum that react against neutrophils.	http://purl.obolibrary.org/obo/HP_0003453		Antineutrophil antibodies|Neutrophil antibody positive
OBO:HP_0003454	Platelet antibody positive	biolink:OntologyClass	hp	UMLS:C1858980	The presence in the serum of autoantibodies directed against thrombocytes.	http://purl.obolibrary.org/obo/HP_0003454		Platelet antibody
OBO:HP_0003455	Elevated circulating long chain fatty acid concentration	biolink:OntologyClass	hp	UMLS:C1859241	Increased concentration of long-chain fatty acids in the blood circulation.	http://purl.obolibrary.org/obo/HP_0003455		Elevated long chain fatty acids|Elevated serum long-chain fatty acids|Increased serum long-chain fatty acids
OBO:HP_0003456	Low urinary cyclic AMP response to PTH administration	biolink:OntologyClass	hp	UMLS:C1864105		http://purl.obolibrary.org/obo/HP_0003456		
OBO:HP_0003457	EMG abnormality	biolink:OntologyClass	hp	SNOMEDCT_US:274523007|UMLS:C0476403	Abnormal results of investigations using electromyography (EMG).	http://purl.obolibrary.org/obo/HP_0003457		Abnormal EMG|Abnormal electromyography finding|EMG abnormalities|Electromyogram abnormal
OBO:HP_0003458	EMG: myopathic abnormalities	biolink:OntologyClass	hp	UMLS:C4021726	The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials.	http://purl.obolibrary.org/obo/HP_0003458		EMG: myopathic changes|EMG: myopathy|Myopathic electromyogram
OBO:HP_0003459	Polyclonal elevation of IgM	biolink:OntologyClass	hp	UMLS:C4025612	A heterogeneous increase in IgM immunoglobulins characterized by a diffuse band on serum electrophoresis.	http://purl.obolibrary.org/obo/HP_0003459		
OBO:HP_0003460	Decreased circulating total IgA	biolink:OntologyClass	hp	UMLS:C4025611	Undetectable serum immunoglobulin A level at a value < 5 mg/dL (0.05 g/L).	http://purl.obolibrary.org/obo/HP_0003460		Decreased total IgA in blood|Total immunoglobulin A deficiency
OBO:HP_0003461	Increased urinary O-linked sialopeptides	biolink:OntologyClass	hp	UMLS:C1836533	Excretion of peptides conjugated to sialic acid in the urine.	http://purl.obolibrary.org/obo/HP_0003461		
OBO:HP_0003462	Elevated 8-dehydrocholesterol	biolink:OntologyClass	hp	UMLS:C1840013		http://purl.obolibrary.org/obo/HP_0003462		
OBO:HP_0003463	Increased extraneuronal autofluorescent lipopigment	biolink:OntologyClass	hp	UMLS:C1859828	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.	http://purl.obolibrary.org/obo/HP_0003463		Lipopigment in extraneuronal cells
OBO:HP_0003464	obsolete Abnormal cholesterol homeostasis	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0003464		
OBO:HP_0003465	Elevated 8(9)-cholestenol	biolink:OntologyClass	hp	UMLS:C1840014		http://purl.obolibrary.org/obo/HP_0003465		
OBO:HP_0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	biolink:OntologyClass	hp	UMLS:C1968855		http://purl.obolibrary.org/obo/HP_0003466		
OBO:HP_0003467	Atlantoaxial instability	biolink:OntologyClass	hp	SNOMEDCT_US:202820009|UMLS:C0410653	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.	http://purl.obolibrary.org/obo/HP_0003467	hposlim_core	
OBO:HP_0003468	Abnormal vertebral morphology	biolink:OntologyClass	hp	Fyler:4108|SNOMEDCT_US:205043005|SNOMEDCT_US:74877002|UMLS:C0158775|UMLS:C4020839|UMLS:C4020840	An abnormality of one or more of the vertebrae.	http://purl.obolibrary.org/obo/HP_0003468		Abnormal vertebrae|Abnormality of the vertebrae|Vertebral anomalies|Abnormal vertebral bodies|Multiple vertebral anomalies
OBO:HP_0003469	Peripheral dysmyelination	biolink:OntologyClass	hp	UMLS:C4025610	Defective structure and function of myelin sheaths. Dysmyelination is distinguished from demyleination where there is destruction or damage of previously normal myelination.	http://purl.obolibrary.org/obo/HP_0003469		
OBO:HP_0003470	Paralysis	biolink:OntologyClass	hp	MSH:D010243|SNOMEDCT_US:44695005|UMLS:C0522224	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.	http://purl.obolibrary.org/obo/HP_0003470		Inability to move|Paralysis
OBO:HP_0003472	Hypocalcemic tetany	biolink:OntologyClass	hp	SNOMEDCT_US:190869004|UMLS:C0151940	Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms.	http://purl.obolibrary.org/obo/HP_0003472		
OBO:HP_0003473	Fatigable weakness	biolink:OntologyClass	hp	UMLS:C0947912	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.	http://purl.obolibrary.org/obo/HP_0003473		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
OBO:HP_0003474	Sensory impairment	biolink:OntologyClass	hp	MSH:D006987|SNOMEDCT_US:397974008|SNOMEDCT_US:398026008|SNOMEDCT_US:59073000|UMLS:C0020580	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.	http://purl.obolibrary.org/obo/HP_0003474		Hypoaesthesia|Hypoesthesia
OBO:HP_0003477	Peripheral axonal neuropathy	biolink:OntologyClass	hp	SNOMEDCT_US:128208007|SNOMEDCT_US:60703000|UMLS:C0270921|UMLS:C1263857	An abnormality characterized by disruption of the normal functioning of peripheral axons.	http://purl.obolibrary.org/obo/HP_0003477		Axonal neuropathy|Axonal peripheral neuropathy
OBO:HP_0003481	Segmental peripheral demyelination/remyelination	biolink:OntologyClass	hp	UMLS:C1843077	A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves.	http://purl.obolibrary.org/obo/HP_0003481		Segmental demyelination/remyelination
OBO:HP_0003482	EMG: axonal abnormality	biolink:OntologyClass	hp	UMLS:C4025609	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.	http://purl.obolibrary.org/obo/HP_0003482		
OBO:HP_0003484	Upper limb muscle weakness	biolink:OntologyClass	hp	SNOMEDCT_US:713512009|UMLS:C1698196	Weakness of the muscles of the arms.	http://purl.obolibrary.org/obo/HP_0003484		Decreased arm strength|Weak arm
OBO:HP_0003487	Babinski sign	biolink:OntologyClass	hp	SNOMEDCT_US:246586009|SNOMEDCT_US:366575004|UMLS:C0034935	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.	http://purl.obolibrary.org/obo/HP_0003487		Extensor plantar reflexes|Extensor plantar response|Extensor plantar responses|Positive Babinski sign
OBO:HP_0003489	Acute episodes of neuropathic symptoms	biolink:OntologyClass	hp	UMLS:C1867971		http://purl.obolibrary.org/obo/HP_0003489		
OBO:HP_0003490	obsolete Defective dehydrogenation of isovaleryl CoA and butyryl CoA	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0003490		
OBO:HP_0003491	Elevated urine pyrophosphate	biolink:OntologyClass	hp	UMLS:C4025607	An abnormally increased diphosphate(4-) concentration in the urine. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate.	http://purl.obolibrary.org/obo/HP_0003491		
OBO:HP_0003492	High urinary gonadotropin level	biolink:OntologyClass	hp	UMLS:C4025606	An elevated concentration of a gonadotropin hormone (stimulating hormone or luteinizing hormone) in the urine, consistent with the diagnosis of primary hypogonadism.	http://purl.obolibrary.org/obo/HP_0003492		
OBO:HP_0003493	Antinuclear antibody positivity	biolink:OntologyClass	hp	SNOMEDCT_US:165850001|UMLS:C0151480	The presence of autoantibodies in the serum that react against nuclei or nuclear components.	http://purl.obolibrary.org/obo/HP_0003493		Antinuclear antibodies|Antinuclear antibody positive|Elevated antinuclear antibody|Serum antinuclear antibody
OBO:HP_0003494	obsolete Loss of heterozygosity, multiple chromosomes	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0003494		
OBO:HP_0003495	GM2-ganglioside accumulation	biolink:OntologyClass	hp	UMLS:C1848920	Cellular accumulation of GM2 gangliosides.	http://purl.obolibrary.org/obo/HP_0003495		
OBO:HP_0003496	Increased circulating IgM level	biolink:OntologyClass	hp	UMLS:C1839972	An abnormally increased level of immunoglobulin M in blood.	http://purl.obolibrary.org/obo/HP_0003496		Increased IgM levels|Increased levels of IgM
OBO:HP_0003498	Disproportionate short stature	biolink:OntologyClass	hp	UMLS:C0878659|UMLS:C1846797	A kind of short stature in which different regions of the body are shortened to differing extents.	http://purl.obolibrary.org/obo/HP_0003498		Short stature, disproportionate|Short stature, severe disproportionate
OBO:HP_0003502	Mild short stature	biolink:OntologyClass	hp	UMLS:C3150077|UMLS:C4020838	A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex.	http://purl.obolibrary.org/obo/HP_0003502		short stature, mild|Relative short stature
OBO:HP_0003508	Proportionate short stature	biolink:OntologyClass	hp	UMLS:C0878660	A kind of short stature in which different regions of the body are shortened to a comparable extent.	http://purl.obolibrary.org/obo/HP_0003508		Proportionate small stature|Short stature, proportionate
OBO:HP_0003510	Severe short stature	biolink:OntologyClass	hp	MSH:D004392|SNOMEDCT_US:237836003|SNOMEDCT_US:237837007|SNOMEDCT_US:422065006|UMLS:C0013336	A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.	http://purl.obolibrary.org/obo/HP_0003510		Dwarfism|Proportionate dwarfism|Severe short stature|Short stature, severe|Short stature, extreme
OBO:HP_0003513	Reduced ratio of renal calcium clearance to creatinine clearance	biolink:OntologyClass	hp	UMLS:C4025605	A reduction of the ratio of renal calcium clearance to creatinine clearance to below 0.01.	http://purl.obolibrary.org/obo/HP_0003513		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
OBO:HP_0003514	Deficiency or absence of cytochrome b(-245)	biolink:OntologyClass	hp	UMLS:C1844390		http://purl.obolibrary.org/obo/HP_0003514		Deficiency or absence of cytochrome b
OBO:HP_0003517	Birth length greater than 97th percentile	biolink:OntologyClass	hp	UMLS:C1839271		http://purl.obolibrary.org/obo/HP_0003517		Fetal overgrowth
OBO:HP_0003521	Disproportionate short-trunk short stature	biolink:OntologyClass	hp	UMLS:C1846435	A type of disproportionate short stature characterized by a short trunk but a average-sized limbs.	http://purl.obolibrary.org/obo/HP_0003521		Disproportionate short-trunked dwarfism|Disproportionate short-trunked short stature|Short-trunked dwarfism
OBO:HP_0003524	Decreased methionine synthase activity	biolink:OntologyClass	hp	UMLS:C1848580	A reduction in methionine synthase activity.	http://purl.obolibrary.org/obo/HP_0003524		Decreased activity of methionine synthase|Methionine synthase activity decreased|Methionine synthase deficiency|Reduced methionine synthase activity
OBO:HP_0003526	Orotic acid crystalluria	biolink:OntologyClass	hp	UMLS:C3278626	Formation of crystals owing to an increased concentration of orotic acid in the urine.	http://purl.obolibrary.org/obo/HP_0003526		
OBO:HP_0003527	Hyperprostaglandinuria	biolink:OntologyClass	hp	UMLS:C1866498	An increased concentration of prostaglandin in the urine.	http://purl.obolibrary.org/obo/HP_0003527		High urine prostaglandin levels
OBO:HP_0003528	Elevated calcitonin	biolink:OntologyClass	hp	UMLS:C1868394		http://purl.obolibrary.org/obo/HP_0003528		Elevated calcitonin
OBO:HP_0003529	Parathormone-independent increased renal tubular calcium reabsorption	biolink:OntologyClass	hp	UMLS:C4025604	An increase in the reabsorption of calcium by the renal tubulus that is not associated with increased parathormone levels.	http://purl.obolibrary.org/obo/HP_0003529		Parathormone-independent increased renal tubular Ca reabsorption|Parathormone-independent increased renal tubular Ca2+ reabsorption
OBO:HP_0003530	Elevated circulating glutaric acid concentration	biolink:OntologyClass	hp	UMLS:C4025603	An increased concentration of glutaric acid in the blood.	http://purl.obolibrary.org/obo/HP_0003530		Glutarate acidemia|Glutaric acidemia
OBO:HP_0003532	Ornithinuria	biolink:OntologyClass	hp	UMLS:C4025602	An increased concentration of ornithine in the urine.	http://purl.obolibrary.org/obo/HP_0003532		
OBO:HP_0003533	Reduced acetaldehyde dehydrogenase level	biolink:OntologyClass	hp	UMLS:C4025601	Decreased level of acetaldehyde dehydrogenase (ADH). ADH and alcohol dehydrogenase (ALDH) are the primary enzymes involved in alcohol metabolism.	http://purl.obolibrary.org/obo/HP_0003533		Delayed oxidation of acetaldehyde
OBO:HP_0003534	Reduced xanthine dehydrogenase level	biolink:OntologyClass	hp	MSH:C562584|SNOMEDCT_US:124147007|SNOMEDCT_US:72682008|UMLS:C0268118|UMLS:C4025600	An abnormal reduction in xanthine dehydrogenase level.	http://purl.obolibrary.org/obo/HP_0003534		Xanthine dehydrogenase deficiency
OBO:HP_0003535	3-Methylglutaconic aciduria	biolink:OntologyClass	hp	MSH:C579867|SNOMEDCT_US:237950009|UMLS:C3696376	An increased amount of 3-methylglutaconic acid in the urine.	http://purl.obolibrary.org/obo/HP_0003535		3-Methylglutaconicaciduria
OBO:HP_0003536	Decreased fumarate hydratase activity	biolink:OntologyClass	hp	UMLS:C1853903	An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of fumarate hydratase activity.	http://purl.obolibrary.org/obo/HP_0003536		
OBO:HP_0003537	Hypouricemia	biolink:OntologyClass	hp	SNOMEDCT_US:4519003|UMLS:C0221333	An abnormally low level of uric acid in the blood.	http://purl.obolibrary.org/obo/HP_0003537		Low blood uric acid levels
OBO:HP_0003538	Increased serum iduronate sulfatase level	biolink:OntologyClass	hp	UMLS:C2673363|UMLS:C4025599	An increased level of iduronate-2-sulfatase activity in the blood.	http://purl.obolibrary.org/obo/HP_0003538		Increased serum iduronate sulfatase
OBO:HP_0003540	Impaired platelet aggregation	biolink:OntologyClass	hp	UMLS:C1855853	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.	http://purl.obolibrary.org/obo/HP_0003540		Defective platelet aggregation|Deficient platelet aggregation|Platelet aggregation defect
OBO:HP_0003541	Urinary glycosaminoglycan excretion	biolink:OntologyClass	hp	UMLS:C4025598	Excretion of glycosaminoglycan in the urine. Glycosaminoglycans are long unbranched polysaccharides consisting of a repeating disaccharide unit.	http://purl.obolibrary.org/obo/HP_0003541		
OBO:HP_0003542	Increased serum pyruvate	biolink:OntologyClass	hp	UMLS:C1849488	An increased concentration of pyruvate in the blood.	http://purl.obolibrary.org/obo/HP_0003542		Increased serum pyruvic acid
OBO:HP_0003546	Exercise intolerance	biolink:OntologyClass	hp	SNOMEDCT_US:267044007|UMLS:C0424551	A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender.	http://purl.obolibrary.org/obo/HP_0003546		Decreased ability to exercise|Inability to exercise|Low exercise endurance|Poor exercise tolerance
OBO:HP_0003547	Shoulder girdle muscle weakness	biolink:OntologyClass	hp	SNOMEDCT_US:249940002|UMLS:C0427063|UMLS:C0748691	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.	http://purl.obolibrary.org/obo/HP_0003547		Weak shoulder muscles|Muscle weakness, shoulder-girdle|Shoulder girdle weakness|Shoulder weakness
OBO:HP_0003548	Subsarcolemmal accumulations of abnormally shaped mitochondria	biolink:OntologyClass	hp	UMLS:C4025597	An abnormally increased number of mitochondria in the cytoplasma adjacent to the sarcolemma (muscle cell membrane), whereby the mitochondria also possess an abnormal morphology.	http://purl.obolibrary.org/obo/HP_0003548		
OBO:HP_0003549	Abnormality of connective tissue	biolink:OntologyClass	hp	UMLS:C4025596	Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat).	http://purl.obolibrary.org/obo/HP_0003549		
OBO:HP_0003550	Predominantly lower limb lymphedema	biolink:OntologyClass	hp	UMLS:C1835228	Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs.	http://purl.obolibrary.org/obo/HP_0003550		
OBO:HP_0003551	Difficulty climbing stairs	biolink:OntologyClass	hp	SNOMEDCT_US:282195009|UMLS:C0239067	Reduced ability to climb stairs.	http://purl.obolibrary.org/obo/HP_0003551		Difficulty walking up stairs
OBO:HP_0003552	Muscle stiffness	biolink:OntologyClass	hp	SNOMEDCT_US:16046003|UMLS:C0221170	A condition in which muscles cannot be moved quickly without accompanying pain or spasm.	http://purl.obolibrary.org/obo/HP_0003552		
OBO:HP_0003553	obsolete Cellulitis due to immunodeficiency	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0003553		
OBO:HP_0003554	Type 2 muscle fiber atrophy	biolink:OntologyClass	hp	UMLS:C1864580	Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy.	http://purl.obolibrary.org/obo/HP_0003554		Type 2 muscle fibre atrophy|Type 2 fiber atrophy
OBO:HP_0003555	Muscle fiber splitting	biolink:OntologyClass	hp	UMLS:C1836057	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.	http://purl.obolibrary.org/obo/HP_0003555		Fiber splitting|Fibre splitting|Muscle fibre splitting
OBO:HP_0003557	Increased variability in muscle fiber diameter	biolink:OntologyClass	hp	UMLS:C1843700	An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy.	http://purl.obolibrary.org/obo/HP_0003557		Increased variability in muscle fibre diameter|Increased fiber size variation|Increased variability in muscle fiber size|Increased variation in fiber size|Increased variation in muscle fiber size|Variation in muscle fiber size
OBO:HP_0003558	Viral infection-induced rhabdomyolysis	biolink:OntologyClass	hp	UMLS:C4025595	Rhabdomyolysis induced by a viral infection.	http://purl.obolibrary.org/obo/HP_0003558		
OBO:HP_0003559	Muscle hyperirritability	biolink:OntologyClass	hp	UMLS:C1853701		http://purl.obolibrary.org/obo/HP_0003559		
OBO:HP_0003560	Muscular dystrophy	biolink:OntologyClass	hp	MSH:D009136|SNOMEDCT_US:193225000|SNOMEDCT_US:73297009|UMLS:C0026850|UMLS:C1864711	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.	http://purl.obolibrary.org/obo/HP_0003560		Muscle biopsy shows dystrophic changes
OBO:HP_0003561	Birth length less than 3rd percentile	biolink:OntologyClass	hp	UMLS:C1855650		http://purl.obolibrary.org/obo/HP_0003561		Birth length < 3rd percentile|Birth length <3rd percentile
OBO:HP_0003562	Abnormal metaphyseal vascular invasion	biolink:OntologyClass	hp	UMLS:C3277127		http://purl.obolibrary.org/obo/HP_0003562		
OBO:HP_0003563	Decreased LDL cholesterol concentration	biolink:OntologyClass	hp	MSH:D006995|SNOMEDCT_US:190786004|UMLS:C0020597|UMLS:C0853085	An decreased concentration of low-density lipoprotein cholesterol in the blood.	http://purl.obolibrary.org/obo/HP_0003563		Decreased LDLc concentration|Decreased LDL|Decreased circulating low-density lipoprotein levels|Hypobetalipoproteinemia
OBO:HP_0003564	Folate-dependent fragile site at Xq28	biolink:OntologyClass	hp	UMLS:C1839785	The presence of a folate sensitive fragile site at chromosome Xq28.	http://purl.obolibrary.org/obo/HP_0003564		
OBO:HP_0003565	Elevated erythrocyte sedimentation rate	biolink:OntologyClass	hp	SNOMEDCT_US:165468009|UMLS:C0151632	An increased erythrocyte sedimentation rate (ESR). The ESR a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen.	http://purl.obolibrary.org/obo/HP_0003565		Elevated ESR|High ESR|Elevated sedimentation rate|High erythrocyte sedimentation rate|Increased erythrocyte sedimentation rate|Raised erythrocyte sedimentation rate
OBO:HP_0003566	Increased serum prostaglandin E2	biolink:OntologyClass	hp	UMLS:C3150358	An increased concentration of prostaglandin E2 in the blood.	http://purl.obolibrary.org/obo/HP_0003566		Elevated prostaglandin E2
OBO:HP_0003568	Decreased glucosephosphate isomerase level	biolink:OntologyClass	hp	SNOMEDCT_US:124669001|UMLS:C1291611	A decreased level of glucose-6-phosphate isomerase.	http://purl.obolibrary.org/obo/HP_0003568		Decreased glucose phosphate isomerase activity|Glucosephosphate isomerase deficiency|Phosphohexose isomerase deficiency
OBO:HP_0003570	Molybdenum cofactor deficiency	biolink:OntologyClass	hp	MSH:C535811|SNOMEDCT_US:29692004|UMLS:C0268119	Absence of molybdenum cofactor(2-), a cofactor for enzymes including sulfite oxidase, xanthine oxidoreductase, and aldehyde oxidase.	http://purl.obolibrary.org/obo/HP_0003570		
OBO:HP_0003571	Propionic acidemia	biolink:OntologyClass	hp	MSH:D056693|SNOMEDCT_US:124718009|SNOMEDCT_US:69080001|UMLS:C0268579	Increased concentration of proprionic acid in the blood circulation.	http://purl.obolibrary.org/obo/HP_0003571		
OBO:HP_0003572	Low plasma citrulline	biolink:OntologyClass	hp	UMLS:C1839532	A decreased concentration of citrulline in the blood.	http://purl.obolibrary.org/obo/HP_0003572		
OBO:HP_0003573	Increased total bilirubin	biolink:OntologyClass	hp	SNOMEDCT_US:176271000119108|UMLS:C0741494	Increased concentration of total (conjugated and unconjugated) bilirubin in the blood.	http://purl.obolibrary.org/obo/HP_0003573		High bili total|Increased bilirubin
OBO:HP_0003574	Positive regitine blocking test	biolink:OntologyClass	hp	UMLS:C4025594	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.	http://purl.obolibrary.org/obo/HP_0003574		
OBO:HP_0003575	Increased intracellular sodium	biolink:OntologyClass	hp	UMLS:C4025593	An abnormally increased sodium concentration in the cytosol.	http://purl.obolibrary.org/obo/HP_0003575		High intracellular Na|Increased intracellular Na+ levels
OBO:HP_0003577	Congenital onset	biolink:OntologyClass	hp	UMLS:C1836142|UMLS:C2752013	A phenotypic abnormality that is present at birth.	http://purl.obolibrary.org/obo/HP_0003577		Symptoms present at birth|Intrauterine onset|Onset at birth|Onset in utero|Prenatal onset
OBO:HP_0003581	Adult onset	biolink:OntologyClass	hp	UMLS:C1853562	Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later.	http://purl.obolibrary.org/obo/HP_0003581		Symptoms begin in adulthood|Onset in adulthood|Onset in early adulthood
OBO:HP_0003584	Late onset	biolink:OntologyClass	hp	UMLS:C4025592	A type of adult onset with onset of symptoms after the age of 60 years.	http://purl.obolibrary.org/obo/HP_0003584		
OBO:HP_0003587	Insidious onset	biolink:OntologyClass	hp	SNOMEDCT_US:367326009|SNOMEDCT_US:61751001|UMLS:C0332164|UMLS:C1298634	Gradual, very slow onset of disease manifestations.	http://purl.obolibrary.org/obo/HP_0003587		Gradual onset
OBO:HP_0003593	Infantile onset	biolink:OntologyClass	hp	UMLS:C1848924	Onset of signs or symptoms of disease between 28 days to one year of life.	http://purl.obolibrary.org/obo/HP_0003593		Infantile onset|Onset in first year of life|Onset in infancy
OBO:HP_0003596	Middle age onset	biolink:OntologyClass	hp	UMLS:C1969363	A type of adult onset with onset of symptoms at the age of 40 to 60 years.	http://purl.obolibrary.org/obo/HP_0003596		
OBO:HP_0003606	Absent urinary urothione	biolink:OntologyClass	hp	UMLS:C4025591	Lack of urothione (the urinary metabolite of molybdenum cofactor) in the urine.	http://purl.obolibrary.org/obo/HP_0003606		
OBO:HP_0003607	4-hydroxyphenylacetic aciduria	biolink:OntologyClass	hp	MSH:C535315|UMLS:C1848680	Increased concentration of 4-hydroxyphenylacetic acid in the urine.	http://purl.obolibrary.org/obo/HP_0003607		
OBO:HP_0003609	Foam cells with lamellar inclusion bodies	biolink:OntologyClass	hp	UMLS:C4025590	The presence of foam cells that contain lamellar inclusion bodies.	http://purl.obolibrary.org/obo/HP_0003609		
OBO:HP_0003610	Fibroblast metachromasia	biolink:OntologyClass	hp	UMLS:C1835008	Increased cytoplasmic staining of fibroblasts with toluidine blue.	http://purl.obolibrary.org/obo/HP_0003610		
OBO:HP_0003612	Positive ferric chloride test	biolink:OntologyClass	hp	UMLS:C4025589	If positive, the ferric chloride test indicates an increased concentration of phenols in the urine or blood.	http://purl.obolibrary.org/obo/HP_0003612		Positive FeCl3 test
OBO:HP_0003613	Antiphospholipid antibody positivity	biolink:OntologyClass	hp	UMLS:C4019436	The presence of circulating autoantibodies to phospholipids.	http://purl.obolibrary.org/obo/HP_0003613		Antiphospholipid antibodies|Antiphospholipid antibody|Phospholipid antibody positivity
OBO:HP_0003614	Trimethylaminuria	biolink:OntologyClass	hp	MSH:C536561|SNOMEDCT_US:237959005|UMLS:C0342739	Increased concentration of trimethylamine in the urine.	http://purl.obolibrary.org/obo/HP_0003614		High urine trimethylamine levels
OBO:HP_0003616	Premature separation of centromeric heterochromatin	biolink:OntologyClass	hp	UMLS:C1849316		http://purl.obolibrary.org/obo/HP_0003616		
OBO:HP_0003621	Juvenile onset	biolink:OntologyClass	hp	UMLS:C4025588	Onset of signs or symptoms of disease between the age of 5 and 15 years.	http://purl.obolibrary.org/obo/HP_0003621		Signs and symptoms begin before 15 years of age
OBO:HP_0003623	Neonatal onset	biolink:OntologyClass	hp	UMLS:C1855106	Onset of signs or symptoms of disease within the first 28 days of life.	http://purl.obolibrary.org/obo/HP_0003623		Neonatal onset|Onset in first weeks of life|Onset in neonatal period
OBO:HP_0003634	Amyoplasia	biolink:OntologyClass	hp	SNOMEDCT_US:205532005|UMLS:C0432185	Congenital lack of development of the muscles, which are then replaced by a mixture of dense fat and fibrous tissue.	http://purl.obolibrary.org/obo/HP_0003634		Absent muscles since birth|Congenital absence of muscles
OBO:HP_0003635	Loss of subcutaneous adipose tissue in limbs	biolink:OntologyClass	hp	UMLS:C1837764	Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg.	http://purl.obolibrary.org/obo/HP_0003635	hposlim_core	Loss of fat tissue below the skin in limbs|Loss of subcutaneous adipose tissue from extremities
OBO:HP_0003637	Reduced 4-Hydroxyphenylpyruvate dioxygenase level	biolink:OntologyClass	hp	UMLS:C4025587	An abnormal reduction in 4-hydroxyphenylpyruvate dioxygenase level.	http://purl.obolibrary.org/obo/HP_0003637		Reducted HPPD activity
OBO:HP_0003639	Elevated urinary epinephrine	biolink:OntologyClass	hp	UMLS:C1868393	An increased concentration of adrenaline in the urine.	http://purl.obolibrary.org/obo/HP_0003639		Increased urinary epinephrine
OBO:HP_0003640	Foam cells in visceral organs and CNS	biolink:OntologyClass	hp	UMLS:C1843373		http://purl.obolibrary.org/obo/HP_0003640		
OBO:HP_0003641	Hemoglobinuria	biolink:OntologyClass	hp	MSH:D006456|SNOMEDCT_US:68600005|UMLS:C0019048	The presence of free hemoglobin in the urine.	http://purl.obolibrary.org/obo/HP_0003641		Hemoglobin in urine
OBO:HP_0003642	Type I transferrin isoform profile	biolink:OntologyClass	hp	UMLS:C1837899	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.	http://purl.obolibrary.org/obo/HP_0003642		Abnormal isoelectric focusing of serum transferrin, type I pattern|Isoelectric focusing of serum transferrin consistent with CDG type I|Type 1 transferrin isoform profile
OBO:HP_0003643	Sulfite oxidase deficiency	biolink:OntologyClass	hp	MSH:C538141|SNOMEDCT_US:367368009|UMLS:C0268624	Abnormally reduced sulfite oxidase level.	http://purl.obolibrary.org/obo/HP_0003643		
OBO:HP_0003645	Prolonged partial thromboplastin time	biolink:OntologyClass	hp	SNOMEDCT_US:409675001|UMLS:C0240671	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.	http://purl.obolibrary.org/obo/HP_0003645		Prolonged PTT|Abnormal partial thromboplastin time|Delayed thromboplastin generation|Partial thromboplastin time prolonged|Prolonged activated partial thromboplastin time
OBO:HP_0003646	Bicarbonaturia	biolink:OntologyClass	hp	UMLS:C1839865	Abnormally increased concentration of hydrogencarbonate in the urine.	http://purl.obolibrary.org/obo/HP_0003646		Increased urine bicarbonate concentration|Increased urine HCO3 concentration
OBO:HP_0003647	Electron transfer flavoprotein-ubiquinone oxidoreductase defect	biolink:OntologyClass	hp	UMLS:C4025586	A deficiency of the electron transfer flavoprotein-ubiquinone oxidoreductase.	http://purl.obolibrary.org/obo/HP_0003647		
OBO:HP_0003648	Lacticaciduria	biolink:OntologyClass	hp	UMLS:C4025585	An increased concentration of lactic acid in the urine.	http://purl.obolibrary.org/obo/HP_0003648		High urine lactic acid levels|Increased urine lactate
OBO:HP_0003649	Abnormality of glycoside metabolism	biolink:OntologyClass	hp	UMLS:C4025584	Abnormality of glycoside metabolism.	http://purl.obolibrary.org/obo/HP_0003649		
OBO:HP_0003651	Foam cells	biolink:OntologyClass	hp	MSH:D005487|SNOMEDCT_US:16980002|UMLS:C0016390	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.	http://purl.obolibrary.org/obo/HP_0003651		Foamy histiocytes|Foamy macrophages|Lipid-laden histiocytes|Presence of foam cells
OBO:HP_0003652	Recurrent myoglobinuria	biolink:OntologyClass	hp	MSH:C564018|UMLS:C1838877	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.	http://purl.obolibrary.org/obo/HP_0003652		Myoglobinuria, episodic|Myoglobinuria, recurrent
OBO:HP_0003653	Cellular metachromasia	biolink:OntologyClass	hp	UMLS:C4025583	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.	http://purl.obolibrary.org/obo/HP_0003653		
OBO:HP_0003654	Reduced dihydropyrimidine dehydrogenase level	biolink:OntologyClass	hp	MSH:D054067|SNOMEDCT_US:77365006|UMLS:C1959620|UMLS:C4025582	An abnormal reduction in dihydropyrimidine dehydrogenase (NADP+) level.	http://purl.obolibrary.org/obo/HP_0003654		Dihydropyrimidine dehydrogenase deficiency
OBO:HP_0003655	Reduced level of N-acetylglucosaminyltransferase II	biolink:OntologyClass	hp	UMLS:C4021725	An abnormality of glycoprotein metabolism related to a decreased level of alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity.	http://purl.obolibrary.org/obo/HP_0003655		Deficient N-acetylglucosaminyltransferase II
OBO:HP_0003656	Decreased beta-glucocerebrosidase level	biolink:OntologyClass	hp	UMLS:C1842710	Reduced level of the enzyme beta-glucosidase, an enzyme that catalyzes the hydrolysis of glucosylceramide into ceramide and glucose.	http://purl.obolibrary.org/obo/HP_0003656		Decreased lysosomal acid glucosylceramidase activity
OBO:HP_0003657	Granular osmiophilic deposits (GROD) in cells	biolink:OntologyClass	hp	UMLS:C1859833		http://purl.obolibrary.org/obo/HP_0003657		
OBO:HP_0003658	Hypomethioninemia	biolink:OntologyClass	hp	UMLS:C1848555	A decreased concentration of methionine in the blood.	http://purl.obolibrary.org/obo/HP_0003658		Decreased plasma methionine|Decreased serum methionine
OBO:HP_0003665	Amyotrophy of the musculature of the pelvis	biolink:OntologyClass	hp	UMLS:C4025581	Muscular atrophy affecting the muscles of the pelvis.	http://purl.obolibrary.org/obo/HP_0003665		
OBO:HP_0003674	Onset	biolink:OntologyClass	hp	MSH:D017668|UMLS:C0206132	The age group in which disease manifestations appear.	http://purl.obolibrary.org/obo/HP_0003674		Age symptoms begin|Age of onset
OBO:HP_0003676	Progressive	biolink:OntologyClass	hp	SNOMEDCT_US:252157006|SNOMEDCT_US:255314001|UMLS:C0205329|UMLS:C1864985	Applies to a disease manifestation that increases in scope or severity over the course of time, i.e., that worsens with age.	http://purl.obolibrary.org/obo/HP_0003676		Worsens with time|Progressive disorder
OBO:HP_0003677	Slowly progressive	biolink:OntologyClass	hp	UMLS:C1854494	Applies to a disease manifestation that only slowly increases in scope or severity over the course of time.	http://purl.obolibrary.org/obo/HP_0003677		Signs and symptoms worsen slowly with time|Slow disease progression|Slow progression|Slowly progressive disorder
OBO:HP_0003678	Rapidly progressive	biolink:OntologyClass	hp	UMLS:C1838681|UMLS:C1850776	Applies to a disease manifestation that quickly increases in scope or severity over the course of time.	http://purl.obolibrary.org/obo/HP_0003678		Worsening quickly|Rapid progression|Rapidly progressive disorder
OBO:HP_0003679	Pace of progression	biolink:OntologyClass	hp	UMLS:C4025580		http://purl.obolibrary.org/obo/HP_0003679		
OBO:HP_0003680	Nonprogressive	biolink:OntologyClass	hp	SNOMEDCT_US:702322003|UMLS:C3839460	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.	http://purl.obolibrary.org/obo/HP_0003680		Does not worsen|Non-progressive|Nonprogressive course|Nonprogressive disorder|Stationary
OBO:HP_0003682	Variable progression rate	biolink:OntologyClass	hp	UMLS:C1970284	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.	http://purl.obolibrary.org/obo/HP_0003682		
OBO:HP_0003683	Large beaked nose	biolink:OntologyClass	hp	UMLS:C4025579		http://purl.obolibrary.org/obo/HP_0003683		Large beaked nose
OBO:HP_0003687	Centrally nucleated skeletal muscle fibers	biolink:OntologyClass	hp	UMLS:C1842170	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).	http://purl.obolibrary.org/obo/HP_0003687		Centrally nucleated skeletal muscle fibres|Central nuclei|Centralized nuclei|Centralized sarcomeric nuclei
OBO:HP_0003688	Cytochrome C oxidase-negative muscle fibers	biolink:OntologyClass	hp	UMLS:C4021724	An abnormally reduced activity of the enzyme cytochrome C oxidase in muscle tissue.	http://purl.obolibrary.org/obo/HP_0003688		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
OBO:HP_0003689	Multiple mitochondrial DNA deletions	biolink:OntologyClass	hp	UMLS:C3277376	The presence of multiple deletions of mitochondrial DNA (mtDNA).	http://purl.obolibrary.org/obo/HP_0003689		Multiple mtDNA deletions
OBO:HP_0003690	Limb muscle weakness	biolink:OntologyClass	hp	SNOMEDCT_US:713514005|UMLS:C0587246	Reduced strength and weakness of the muscles of the arms and legs.	http://purl.obolibrary.org/obo/HP_0003690		Limb muscle weakness|Limb weakness
OBO:HP_0003691	Scapular winging	biolink:OntologyClass	hp	MEDDRA:10067628|SNOMEDCT_US:17211005|UMLS:C0240953|UMLS:C4072849	Abnormal protrusion of the scapula away from the surface of the back.	http://purl.obolibrary.org/obo/HP_0003691	hposlim_core	Winged shoulder blade|Scapula alata|Winged scapulae|Winged scapulas|Scapular weakness
OBO:HP_0003693	Distal amyotrophy	biolink:OntologyClass	hp	UMLS:C1848736	Muscular atrophy affecting muscles in the distal portions of the extremities.	http://purl.obolibrary.org/obo/HP_0003693		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
OBO:HP_0003694	Late-onset proximal muscle weakness	biolink:OntologyClass	hp	UMLS:C4025578	Lack of strength of the proximal musculature occurring late in the clinical course.	http://purl.obolibrary.org/obo/HP_0003694		
OBO:HP_0003696	Absent epiphysis of the distal phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4025577	Absence of the epiphysis located at the proximal end of the distal phalanx of the 5th finger.	http://purl.obolibrary.org/obo/HP_0003696		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
OBO:HP_0003697	Scapuloperoneal amyotrophy	biolink:OntologyClass	hp	UMLS:C1842162	Muscular atrophy in the distribution of shoulder girdle and peroneal muscles.	http://purl.obolibrary.org/obo/HP_0003697		Scapuloperoneal atrophy
OBO:HP_0003698	Difficulty standing	biolink:OntologyClass	hp	SNOMEDCT_US:249902000|UMLS:C0241237		http://purl.obolibrary.org/obo/HP_0003698		Difficulty in standing|Standing instability
OBO:HP_0003700	Generalized amyotrophy	biolink:OntologyClass	hp	UMLS:C1389113	Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles.	http://purl.obolibrary.org/obo/HP_0003700		Diffuse skeletal muscle wasting|Generalized muscle degeneration|Muscle atrophy, generalized|Generalised amyotrophy|Diffuse amyotrophy|Diffuse muscle atrophy|Diffuse muscle wasting|Generalized muscle atrophy|Muscle atrophy, diffuse|Muscular atrophy, generalized
OBO:HP_0003701	Proximal muscle weakness	biolink:OntologyClass	hp	SNOMEDCT_US:249939004|UMLS:C0221629|UMLS:C1838869	A lack of strength of the proximal muscles.	http://purl.obolibrary.org/obo/HP_0003701		Weakness in muscles of upper arms and upper legs|Proximal neurogenic muscle weakness|Muscle weakness, proximal|Proximal limb muscle weakness|Proximal limb weakness
OBO:HP_0003704	Scapuloperoneal weakness	biolink:OntologyClass	hp	UMLS:C1842161		http://purl.obolibrary.org/obo/HP_0003704		Neurogenic scapuloperoneal syndrome
OBO:HP_0003707	Calf muscle pseudohypertrophy	biolink:OntologyClass	hp	UMLS:C1839666	Enlargement of the muscles of the calf due to their replacement by connective tissue or fat.	http://purl.obolibrary.org/obo/HP_0003707		Pseudohypertrophy of the calves
OBO:HP_0003710	Exercise-induced muscle cramps	biolink:OntologyClass	hp	UMLS:C1855578	Sudden and involuntary contractions of one or more muscles brought on by physical exertion.	http://purl.obolibrary.org/obo/HP_0003710		Exercise-induced muscle cramping|Exercise-induced muscle cramps|Muscle cramps following exercise|Muscle cramps on exercise|Muscle cramps on exertion|Muscle cramps with exertion
OBO:HP_0003712	Skeletal muscle hypertrophy	biolink:OntologyClass	hp	UMLS:C2265792	Hypertrophy (increase in size) of muscle cells (as opposed to hyperplasia, which refers to an increase in the number of muscle cells).	http://purl.obolibrary.org/obo/HP_0003712		Increased skeletal muscle cells|Hypertrophic muscles|Muscle hypertrophy|Muscular hypertrophy
OBO:HP_0003713	Muscle fiber necrosis	biolink:OntologyClass	hp	UMLS:C1850848	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.	http://purl.obolibrary.org/obo/HP_0003713		Muscle fibre necrosis
OBO:HP_0003715	Myofibrillar myopathy	biolink:OntologyClass	hp	MSH:C580316|SNOMEDCT_US:699269005|UMLS:C2678065	Myofibrillar structural changes characterized by abnormal intracellular accumulation of the intermediate filament desmin and other proteins.	http://purl.obolibrary.org/obo/HP_0003715		Myofibrillar changes
OBO:HP_0003716	Generalized muscular appearance from birth	biolink:OntologyClass	hp	UMLS:C1837799		http://purl.obolibrary.org/obo/HP_0003716		Generalised muscular appearance from birth
OBO:HP_0003717	Minimal subcutaneous fat	biolink:OntologyClass	hp	UMLS:C1859442		http://purl.obolibrary.org/obo/HP_0003717		Minimal fat below the skin
OBO:HP_0003719	Muscle mounding	biolink:OntologyClass	hp	UMLS:C1853702		http://purl.obolibrary.org/obo/HP_0003719		
OBO:HP_0003720	Generalized muscle hypertrophy	biolink:OntologyClass	hp	UMLS:C3805639	Hypertrophy (increase in size) of muscle cells in a generalized (not localized) distribution.	http://purl.obolibrary.org/obo/HP_0003720		Generalized increase in muscle cell size|Generalised muscle hypertrophy
OBO:HP_0003722	Neck flexor weakness	biolink:OntologyClass	hp	UMLS:C1843637	Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior).	http://purl.obolibrary.org/obo/HP_0003722		Neck flexion weakness|Neck flexor muscle weakness
OBO:HP_0003724	Shoulder girdle muscle atrophy	biolink:OntologyClass	hp	UMLS:C1847766	Amyotrophy affecting the muscles of the shoulder girdle.	http://purl.obolibrary.org/obo/HP_0003724		Shoulder girdle muscle wasting|Shoulder-girdle muscle atrophy|Shoulder girdle atrophy
OBO:HP_0003725	Firm muscles	biolink:OntologyClass	hp	UMLS:C1850656		http://purl.obolibrary.org/obo/HP_0003725		
OBO:HP_0003729	Enteroviral dermatomyositis syndrome	biolink:OntologyClass	hp	UMLS:C3806660		http://purl.obolibrary.org/obo/HP_0003729		
OBO:HP_0003730	EMG: myotonic runs	biolink:OntologyClass	hp	UMLS:C4020837|UMLS:C4025576	Spontaneous, repetitive electrical activity demonstrated by electromyography (EMG).	http://purl.obolibrary.org/obo/HP_0003730		EMG: spontaneous, repetitive electrical activity
OBO:HP_0003731	Quadriceps muscle weakness	biolink:OntologyClass	hp	SNOMEDCT_US:300948004|UMLS:C0577655	Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris).	http://purl.obolibrary.org/obo/HP_0003731		Quadriceps weakness
OBO:HP_0003733	Thigh hypertrophy	biolink:OntologyClass	hp	UMLS:C1846674	Muscle hypertrophy affecting the thighs.	http://purl.obolibrary.org/obo/HP_0003733		Increased thigh size
OBO:HP_0003736	Autophagic vacuoles	biolink:OntologyClass	hp	UMLS:C0544966	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.	http://purl.obolibrary.org/obo/HP_0003736		
OBO:HP_0003737	Mitochondrial myopathy	biolink:OntologyClass	hp	MSH:D017240|SNOMEDCT_US:16851005|UMLS:C0162670	A type of myopathy associated with mitochondrial disease and characterized by findings on biopsy such as ragged red muscle fibers.	http://purl.obolibrary.org/obo/HP_0003737		
OBO:HP_0003738	Exercise-induced myalgia	biolink:OntologyClass	hp	UMLS:C1850830	The occurrence of an unusually high amount of muscle pain following exercise.	http://purl.obolibrary.org/obo/HP_0003738		Exercise-induced muscle pain|Muscle pain on exercise|Muscle pain with exercise|Muscle pain, exercise-induced
OBO:HP_0003739	Myoclonic spasms	biolink:OntologyClass	hp	UMLS:C3806442		http://purl.obolibrary.org/obo/HP_0003739		
OBO:HP_0003740	Myotonia with warm-up phenomenon	biolink:OntologyClass	hp	UMLS:C4025575	Myotonia that occurs after a period of rest and decreases with continuing exercise.	http://purl.obolibrary.org/obo/HP_0003740		
OBO:HP_0003741	Congenital muscular dystrophy	biolink:OntologyClass	hp	SNOMEDCT_US:240059009|UMLS:C0699743		http://purl.obolibrary.org/obo/HP_0003741		Muscular dystrophy, congenital
OBO:HP_0003743	Genetic anticipation	biolink:OntologyClass	hp	MSH:D020132|UMLS:C0600498	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.	http://purl.obolibrary.org/obo/HP_0003743		
OBO:HP_0003744	Genetic anticipation with paternal anticipation bias	biolink:OntologyClass	hp	UMLS:C1834002|UMLS:C4025574	A type of genetic anticipation observed predominantly upon transmission from affected males.	http://purl.obolibrary.org/obo/HP_0003744		Paternal anticipation bias
OBO:HP_0003745	Sporadic	biolink:OntologyClass	hp	UMLS:C1853237	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.	http://purl.obolibrary.org/obo/HP_0003745		No previous family history|Isolated cases
OBO:HP_0003749	Pelvic girdle muscle weakness	biolink:OntologyClass	hp	SNOMEDCT_US:249941003|UMLS:C0427064	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.	http://purl.obolibrary.org/obo/HP_0003749		Hip girdle muscle weakness|Hip girdle weakness|Hip-girdle muscle weakness|Pelvic girdle weakness
OBO:HP_0003750	Increased muscle fatiguability	biolink:OntologyClass	hp	MSH:D018763|SNOMEDCT_US:80449002|UMLS:C0242979|UMLS:C4025573	An abnormal, increased fatiguability of the musculature.	http://purl.obolibrary.org/obo/HP_0003750		Muscle fatigue
OBO:HP_0003752	Episodic flaccid weakness	biolink:OntologyClass	hp	UMLS:C4025572	Recurrent episodes of muscle flaccidity, a type of paralysis in which a muscle becomes soft and yields to passive stretching.	http://purl.obolibrary.org/obo/HP_0003752		
OBO:HP_0003755	Type 1 fibers relatively smaller than type 2 fibers	biolink:OntologyClass	hp	UMLS:C4025571	The presence of abnormal muscle fiber size such that type 1 fibers are smaller than type 2 fibers.	http://purl.obolibrary.org/obo/HP_0003755		Type 1 fibres relatively smaller than type 2 fibres
OBO:HP_0003756	Skeletal myopathy	biolink:OntologyClass	hp	SNOMEDCT_US:75047002|UMLS:C1533847		http://purl.obolibrary.org/obo/HP_0003756		
OBO:HP_0003758	Reduced subcutaneous adipose tissue	biolink:OntologyClass	hp	SNOMEDCT_US:248316006|UMLS:C0424631|UMLS:C1857657	A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness.	http://purl.obolibrary.org/obo/HP_0003758		Reduced fat tissue below the skin|Decreased subcutaneous adipose tissue|Decreased subcutaneous fat|Reduced subcutaneous fat|Scanty adipose tissue
OBO:HP_0003759	Hypoplasia of lymphatic vessels	biolink:OntologyClass	hp	UMLS:C4025570	Congenital underdevelopment of lymph vessels.	http://purl.obolibrary.org/obo/HP_0003759		Underdeveloped lymphatic vessels
OBO:HP_0003760	Percussion-induced rapid rolling muscle contractions	biolink:OntologyClass	hp	UMLS:C4280804	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.	http://purl.obolibrary.org/obo/HP_0003760		
OBO:HP_0003761	Calcinosis	biolink:OntologyClass	hp	MSH:D002114|SNOMEDCT_US:6595006|UMLS:C0006663	Formation of calcium deposits in any soft tissue.	http://purl.obolibrary.org/obo/HP_0003761		Calcium buildup in soft tissues of body
OBO:HP_0003762	Uterus didelphys	biolink:OntologyClass	hp	SNOMEDCT_US:15545001|SNOMEDCT_US:22504001|UMLS:C0152240|UMLS:C0266393	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.	http://purl.obolibrary.org/obo/HP_0003762		Double uterus
OBO:HP_0003763	Bruxism	biolink:OntologyClass	hp	MSH:D002012|SNOMEDCT_US:191983006|SNOMEDCT_US:90207007|UMLS:C0006325	Bruxism is characterized by the grinding of the teeth including the clenching of the jaw and typically occur during sleep.	http://purl.obolibrary.org/obo/HP_0003763		Teeth grinding
OBO:HP_0003764	Nevus	biolink:OntologyClass	hp	MSH:D009506|MSH:D009508|SNOMEDCT_US:21119008|SNOMEDCT_US:400096001|SNOMEDCT_US:51697005|UMLS:C0027960|UMLS:C0027962	A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin.	http://purl.obolibrary.org/obo/HP_0003764		Mole|Naevus|Naevi|Nevi
OBO:HP_0003765	Psoriasiform dermatitis	biolink:OntologyClass	hp	MSH:D011565|SNOMEDCT_US:9014002|UMLS:C0033860	A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales).	http://purl.obolibrary.org/obo/HP_0003765		Psoriasis
OBO:HP_0003768	Periodic paralysis	biolink:OntologyClass	hp	SNOMEDCT_US:198030008|UMLS:C1279412	Episodes of muscle weakness.	http://purl.obolibrary.org/obo/HP_0003768		Episodic paralysis
OBO:HP_0003771	Pulp stones	biolink:OntologyClass	hp	MSH:D003784|SNOMEDCT_US:57602001|UMLS:C1527284|UMLS:C4280259|UMLS:C4280546	Multiple punctate calcifications in the dental pulp.	http://purl.obolibrary.org/obo/HP_0003771		Pulp stones|Pulp calcifications|Pulp denticles|False denticles|False pulp stones|True denticles|True pulp stones
OBO:HP_0003774	Stage 5 chronic kidney disease	biolink:OntologyClass	hp	SNOMEDCT_US:433146000|UMLS:C2316810	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.	http://purl.obolibrary.org/obo/HP_0003774		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
OBO:HP_0003777	Pili torti	biolink:OntologyClass	hp	MSH:C562485|SNOMEDCT_US:17170005|UMLS:C0263491	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.	http://purl.obolibrary.org/obo/HP_0003777	hposlim_core	Flattened and twisted hair
OBO:HP_0003778	Short mandibular rami	biolink:OntologyClass	hp	UMLS:C1841648|UMLS:C4280545		http://purl.obolibrary.org/obo/HP_0003778		Decreased size of mandibular ramus|Short body and ramus of mandible|Short mandibular ramus|Underdeveloped mandibular rami|Decreased height of mandibular ramus
OBO:HP_0003779	Antegonial notching of mandible	biolink:OntologyClass	hp	UMLS:C1844509		http://purl.obolibrary.org/obo/HP_0003779		Deep antegonial notch of mandible|Large antegonial notch of mandible
OBO:HP_0003781	Excessive salivation	biolink:OntologyClass	hp	MSH:D012798|SNOMEDCT_US:275295002|SNOMEDCT_US:53827007|SNOMEDCT_US:62718007|UMLS:C0013132|UMLS:C0037036	Excessive production of saliva.	http://purl.obolibrary.org/obo/HP_0003781		Excessive salivation|Mouth watering|Oversalivation|Watery mouth|Excessive production of saliva|Hypersalivation|Ptyalism
OBO:HP_0003782	Eunuchoid habitus	biolink:OntologyClass	hp	UMLS:C4025569	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).	http://purl.obolibrary.org/obo/HP_0003782		
OBO:HP_0003783	Externally rotated/abducted legs	biolink:OntologyClass	hp	UMLS:C1970461		http://purl.obolibrary.org/obo/HP_0003783		
OBO:HP_0003784	Type 1 collagen overmodification	biolink:OntologyClass	hp	UMLS:C1970463		http://purl.obolibrary.org/obo/HP_0003784		
OBO:HP_0003785	Decreased CSF homovanillic acid	biolink:OntologyClass	hp	UMLS:C4280803	Decreased concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine.	http://purl.obolibrary.org/obo/HP_0003785		
OBO:HP_0003787	Type 1 and type 2 muscle fiber minicore regions	biolink:OntologyClass	hp	UMLS:C4025568	Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in type 1 and type 2 muscle fibers.	http://purl.obolibrary.org/obo/HP_0003787		Type 1 and type 2 muscle fibre minicore regions
OBO:HP_0003789	Minicore myopathy	biolink:OntologyClass	hp	MSH:C564969|UMLS:C1850674	Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in muscle fibers.	http://purl.obolibrary.org/obo/HP_0003789		
OBO:HP_0003791	Deposits immunoreactive to beta-amyloid protein	biolink:OntologyClass	hp	UMLS:C1853934		http://purl.obolibrary.org/obo/HP_0003791		
OBO:HP_0003795	Short middle phalanx of toe	biolink:OntologyClass	hp	UMLS:C4021723	Developmental hypoplasia (shortening) of middle phalanx of toe.	http://purl.obolibrary.org/obo/HP_0003795		Short middle bones (feet)|Short middle phalanges of toes
OBO:HP_0003796	Irregular iliac crest	biolink:OntologyClass	hp	UMLS:C1855180	Irregularity of the iliac crest, which is the superior border of the wing of the ilium.	http://purl.obolibrary.org/obo/HP_0003796		
OBO:HP_0003797	Limb-girdle muscle atrophy	biolink:OntologyClass	hp	UMLS:C1404521|UMLS:C1842552	Muscular atrophy affecting the muscles of the limb girdle.	http://purl.obolibrary.org/obo/HP_0003797		Wasting of limb-girdle muscle|Limb-girdle myopathy
OBO:HP_0003798	Nemaline bodies	biolink:OntologyClass	hp	UMLS:C3808039	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.	http://purl.obolibrary.org/obo/HP_0003798		Nemaline rods
OBO:HP_0003799	Marked delay in bone age	biolink:OntologyClass	hp	UMLS:C1868549		http://purl.obolibrary.org/obo/HP_0003799		Marked delay in bone age|Markedly retarded bone age|Marked retardation in skeletal maturation
OBO:HP_0003800	Muscle abnormality related to mitochondrial dysfunction	biolink:OntologyClass	hp	UMLS:C4025566		http://purl.obolibrary.org/obo/HP_0003800		
OBO:HP_0003803	Type 1 muscle fiber predominance	biolink:OntologyClass	hp	UMLS:C1854387	An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy).	http://purl.obolibrary.org/obo/HP_0003803		Type 1 muscle fibre predominance|Type I muscle fiber predominance
OBO:HP_0003805	Rimmed vacuoles	biolink:OntologyClass	hp	UMLS:C1853932	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.	http://purl.obolibrary.org/obo/HP_0003805		'rimmed vacuoles' on biopsy|'rimmed' vacuoles on biopsy
OBO:HP_0003808	Abnormal muscle tone	biolink:OntologyClass	hp	UMLS:C0852413		http://purl.obolibrary.org/obo/HP_0003808		Abnormal muscle tone
OBO:HP_0003809	Reduced intrathoracic adipose tissue	biolink:OntologyClass	hp	UMLS:C1837797	An abnormally reduced amount of adipose tissue in the thoracic cavity.	http://purl.obolibrary.org/obo/HP_0003809		
OBO:HP_0003810	Late-onset distal muscle weakness	biolink:OntologyClass	hp	UMLS:C4025565		http://purl.obolibrary.org/obo/HP_0003810		
OBO:HP_0003811	Neonatal death	biolink:OntologyClass	hp	MSH:D066087|SNOMEDCT_US:276506001|UMLS:C0410916	Death within the first 28 days of life.	http://purl.obolibrary.org/obo/HP_0003811		Neonatal lethal
OBO:HP_0003812	Phenotypic variability	biolink:OntologyClass	hp	UMLS:C1837514|UMLS:C1839039|UMLS:C1850667|UMLS:C1866210	A variability of phenotypic features.	http://purl.obolibrary.org/obo/HP_0003812		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
OBO:HP_0003819	Death in childhood	biolink:OntologyClass	hp	UMLS:C1843392	Death in during childhood, defined here as between the ages of 2 and 10 years.	http://purl.obolibrary.org/obo/HP_0003819		Death in childhood
OBO:HP_0003826	Stillbirth	biolink:OntologyClass	hp	MSH:D005313|MSH:D050497|SNOMEDCT_US:237364002|SNOMEDCT_US:276507005|UMLS:C0015927|UMLS:C0595939	Death of the fetus in utero after at least 20 weeks of gestation.	http://purl.obolibrary.org/obo/HP_0003826		Stillbirth|Stillborn|Fetal death
OBO:HP_0003828	Variable expressivity	biolink:OntologyClass	hp	UMLS:C1861403|UMLS:C1866862	A variable severity of phenotypic features.	http://purl.obolibrary.org/obo/HP_0003828		Variable severity|Highly variable severity
OBO:HP_0003829	Incomplete penetrance	biolink:OntologyClass	hp	UMLS:C1836598	A situation in which mutation carriers do not show clinically evident phenotypic abnormalities.	http://purl.obolibrary.org/obo/HP_0003829		Reduced penetrance
OBO:HP_0003831	Age-dependent penetrance	biolink:OntologyClass	hp	UMLS:C1835978	A situation in which phenotypic abnormalities become evident with age.	http://purl.obolibrary.org/obo/HP_0003831		Age dependent penetrance
OBO:HP_0003832	Abnormality of the tibial plateaux	biolink:OntologyClass	hp	UMLS:C4025564		http://purl.obolibrary.org/obo/HP_0003832		
OBO:HP_0003833	Laterally deficient tibial plateaux	biolink:OntologyClass	hp	UMLS:C4025563		http://purl.obolibrary.org/obo/HP_0003833		
OBO:HP_0003834	Shoulder dislocation	biolink:OntologyClass	hp	MSH:D012783|SNOMEDCT_US:125615005|SNOMEDCT_US:417076003|UMLS:C0037005	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.	http://purl.obolibrary.org/obo/HP_0003834		Shoulder dislocation
OBO:HP_0003835	Shoulder subluxation	biolink:OntologyClass	hp	SNOMEDCT_US:263051004|UMLS:C0434744	A partial dislocation of the shoulder joint.	http://purl.obolibrary.org/obo/HP_0003835		Partial shoulder dislocation
OBO:HP_0003836	Stippled calcification of the shoulder	biolink:OntologyClass	hp	UMLS:C4025562		http://purl.obolibrary.org/obo/HP_0003836		
OBO:HP_0003837	Soft-tissue ossification around the shoulders	biolink:OntologyClass	hp	UMLS:C4025561	Formation of calcified tissue in the soft tissues surrounding the shoulder.	http://purl.obolibrary.org/obo/HP_0003837		Calcification of the soft-tissue around the shoulders
OBO:HP_0003839	Abnormality of upper limb epiphysis morphology	biolink:OntologyClass	hp	UMLS:C4021722		http://purl.obolibrary.org/obo/HP_0003839		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
OBO:HP_0003840	Delayed upper limb epiphyseal ossification	biolink:OntologyClass	hp	UMLS:C4025560|UMLS:C4280544	A delay in the process of formation and maturation of the epiphysis of one or more long bones of the upper limbs.	http://purl.obolibrary.org/obo/HP_0003840		Delayed maturation fo the end part of the upper limb bone
OBO:HP_0003841	Fragmented epiphyses of the upper limbs	biolink:OntologyClass	hp	UMLS:C4025559		http://purl.obolibrary.org/obo/HP_0003841		Fragmented end part of upper limb bones
OBO:HP_0003842	Irregular epiphyses of the upper limbs	biolink:OntologyClass	hp	UMLS:C4025558		http://purl.obolibrary.org/obo/HP_0003842		Irregular end part of upper limb bones
OBO:HP_0003843	Round epiphyses of the upper limbs	biolink:OntologyClass	hp	UMLS:C4025557		http://purl.obolibrary.org/obo/HP_0003843		Round end part of upper limb bones
OBO:HP_0003844	Small epiphyses of the upper limbs	biolink:OntologyClass	hp	UMLS:C4025556		http://purl.obolibrary.org/obo/HP_0003844		Small end part of upper limb bones
OBO:HP_0003846	Wide epiphyseal plates of the upper limbs	biolink:OntologyClass	hp	UMLS:C4020913		http://purl.obolibrary.org/obo/HP_0003846		Broad growth plates of upper limbs|Broad epiphyseal plates of the upper limbs
OBO:HP_0003848	Cupped metaphyses of the upper limbs	biolink:OntologyClass	hp	UMLS:C4025555		http://purl.obolibrary.org/obo/HP_0003848		Cupped wide portion of the upper limb bone
OBO:HP_0003849	Flared upper limb metaphysis	biolink:OntologyClass	hp	UMLS:C4021721	The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the arm.	http://purl.obolibrary.org/obo/HP_0003849		Flared wide portion of the upper limb bone|Flared metaphyses of the upper limbs
OBO:HP_0003850	Upper-limb metaphyseal irregularity	biolink:OntologyClass	hp	UMLS:C4021720		http://purl.obolibrary.org/obo/HP_0003850		Irregular wide portion of upper limb bones|Irregular metaphyses of the upper limbs
OBO:HP_0003851	Lytic defects in metaphyses of the upper limbs	biolink:OntologyClass	hp	UMLS:C4025554		http://purl.obolibrary.org/obo/HP_0003851		
OBO:HP_0003852	Normal density transverse bands in metaphyses of the upper limbs	biolink:OntologyClass	hp	UMLS:C4025553		http://purl.obolibrary.org/obo/HP_0003852		
OBO:HP_0003853	Sclerosis with transverse striations in metaphyses of the upper limbs	biolink:OntologyClass	hp	UMLS:C4025552		http://purl.obolibrary.org/obo/HP_0003853		
OBO:HP_0003854	Sclerosis of metaphyses of the upper limbs	biolink:OntologyClass	hp	UMLS:C4025551		http://purl.obolibrary.org/obo/HP_0003854		Increased bone density in wide portion of the upper limb bones
OBO:HP_0003855	Spurred metaphyses of the upper limbs	biolink:OntologyClass	hp	UMLS:C4025550		http://purl.obolibrary.org/obo/HP_0003855		Spurred wide portion of upper limb bone
OBO:HP_0003856	Upper limb metaphyseal widening	biolink:OntologyClass	hp	UMLS:C4021719	Increased width (breadth) of metaphyses of the arms.	http://purl.obolibrary.org/obo/HP_0003856		Broad wide portion of upper limb bone|Wide/broad metaphyses of the upper limbs
OBO:HP_0003858	Cortical diaphyseal irregularity of the upper limbs	biolink:OntologyClass	hp	UMLS:C4025549		http://purl.obolibrary.org/obo/HP_0003858		
OBO:HP_0003859	Cortical diaphyseal thickening of the upper limbs	biolink:OntologyClass	hp	UMLS:C4025548		http://purl.obolibrary.org/obo/HP_0003859		
OBO:HP_0003860	Diaphyseal sclerosis of the upper limbs	biolink:OntologyClass	hp	UMLS:C4025547	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.	http://purl.obolibrary.org/obo/HP_0003860		Increased bone density in central part of long bone of upper limbs
OBO:HP_0003861	Broad diaphyses of the upper limbs	biolink:OntologyClass	hp	UMLS:C4021718		http://purl.obolibrary.org/obo/HP_0003861		Broad shaft of long bone of the upper limbs|Wide shaft of long bone of the upper limbs|Wide diaphyses of the upper limbs
OBO:HP_0003862	Absent humerus	biolink:OntologyClass	hp	UMLS:C2678399	Missing humerus bone associated with congenital failure of development.	http://purl.obolibrary.org/obo/HP_0003862	hposlim_core	Absent long bone in upper arm|Aplasia of the humerus|Aplastic humerus
OBO:HP_0003863	Angulated humerus	biolink:OntologyClass	hp	UMLS:C4025546		http://purl.obolibrary.org/obo/HP_0003863		Angulated long bone in upper arm
OBO:HP_0003864	Bifid humerus	biolink:OntologyClass	hp	UMLS:C4025545	Clefting affecting the humerus.	http://purl.obolibrary.org/obo/HP_0003864		Notched long bone in upper arm
OBO:HP_0003865	Bowed humerus	biolink:OntologyClass	hp	UMLS:C1859460	A bending or abnormal curvature of the humerus.	http://purl.obolibrary.org/obo/HP_0003865	hposlim_core	Bowed long bone in upper arm|Bowing of the humerus|Humeral bowing
OBO:HP_0003866	Coarse humeral trabeculae	biolink:OntologyClass	hp	UMLS:C4025544		http://purl.obolibrary.org/obo/HP_0003866		
OBO:HP_0003867	Humeral cortical irregularity	biolink:OntologyClass	hp	UMLS:C4025543		http://purl.obolibrary.org/obo/HP_0003867		
OBO:HP_0003868	Humeral cortical thickening	biolink:OntologyClass	hp	UMLS:C4025542		http://purl.obolibrary.org/obo/HP_0003868		
OBO:HP_0003869	Humeral cortical thinning	biolink:OntologyClass	hp	UMLS:C4025541		http://purl.obolibrary.org/obo/HP_0003869		
OBO:HP_0003870	Crumpled humerus	biolink:OntologyClass	hp	UMLS:C4025540		http://purl.obolibrary.org/obo/HP_0003870		Crumpled long bone in upper arm
OBO:HP_0003871	Deformed humerus	biolink:OntologyClass	hp	UMLS:C4025539		http://purl.obolibrary.org/obo/HP_0003871		Deformed long bone in upper arm
OBO:HP_0003872	Humeral exostoses	biolink:OntologyClass	hp	UMLS:C4025538	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.	http://purl.obolibrary.org/obo/HP_0003872		
OBO:HP_0003874	Humerus varus	biolink:OntologyClass	hp	UMLS:C4025537		http://purl.obolibrary.org/obo/HP_0003874	hposlim_core	
OBO:HP_0003875	Humeral lytic defects	biolink:OntologyClass	hp	UMLS:C4025536	Destruction of an area of humerus bone due to a disease process, such as cancer.	http://purl.obolibrary.org/obo/HP_0003875		Lytic defects of the humerus
OBO:HP_0003876	Osteoporotic humerus	biolink:OntologyClass	hp	UMLS:C4025535		http://purl.obolibrary.org/obo/HP_0003876		
OBO:HP_0003877	Oval transradiancy of humerus	biolink:OntologyClass	hp	UMLS:C4025534		http://purl.obolibrary.org/obo/HP_0003877		Humeral oval transradiancy
OBO:HP_0003878	Periosteal new bone of humerus	biolink:OntologyClass	hp	UMLS:C4025533		http://purl.obolibrary.org/obo/HP_0003878		
OBO:HP_0003879	Humeral pseudarthrosis	biolink:OntologyClass	hp	UMLS:C4025532		http://purl.obolibrary.org/obo/HP_0003879		False joint (long bone in upper arm)
OBO:HP_0003880	Sclerotic foci of the humerus	biolink:OntologyClass	hp	UMLS:C4021717		http://purl.obolibrary.org/obo/HP_0003880		Humeral sclerotic foci
OBO:HP_0003881	Humeral sclerosis	biolink:OntologyClass	hp	UMLS:C4021716		http://purl.obolibrary.org/obo/HP_0003881		Increased bone density in long bone of upper arm|Sclerosis of humerus
OBO:HP_0003882	Slender humerus	biolink:OntologyClass	hp	UMLS:C4021851	Reduction in diameter of the humerus.	http://purl.obolibrary.org/obo/HP_0003882		Slender long bone of upper arm
OBO:HP_0003883	Tapered humerus	biolink:OntologyClass	hp	UMLS:C4025531		http://purl.obolibrary.org/obo/HP_0003883		Tapered long bone of upper arm
OBO:HP_0003884	Triangular humerus	biolink:OntologyClass	hp	UMLS:C4025530		http://purl.obolibrary.org/obo/HP_0003884		Triangular long bone of upper arm
OBO:HP_0003885	Undermodeled humerus	biolink:OntologyClass	hp	UMLS:C4025529		http://purl.obolibrary.org/obo/HP_0003885		
OBO:HP_0003886	Wide humerus	biolink:OntologyClass	hp	UMLS:C4021715		http://purl.obolibrary.org/obo/HP_0003886		Wide long bone of upper arm|Broad humerus
OBO:HP_0003887	Abnormality of the humeral heads	biolink:OntologyClass	hp	UMLS:C4025528		http://purl.obolibrary.org/obo/HP_0003887		Abnormal head of long bone in upper arm
OBO:HP_0003888	Flattened humeral heads	biolink:OntologyClass	hp	UMLS:C3808869		http://purl.obolibrary.org/obo/HP_0003888		Flattended head of long bone in upper arm
OBO:HP_0003889	Abnormality of the deltoid tuberosities	biolink:OntologyClass	hp	UMLS:C4025527		http://purl.obolibrary.org/obo/HP_0003889		
OBO:HP_0003890	Prominent deltoid tuberosities	biolink:OntologyClass	hp	UMLS:C2674600		http://purl.obolibrary.org/obo/HP_0003890		
OBO:HP_0003891	Abnormality of the humeral epiphysis	biolink:OntologyClass	hp	UMLS:C4021714	An anomaly of the humeral epiphysis.	http://purl.obolibrary.org/obo/HP_0003891		Abnormality of end part of the long bone of the upper arm|Abnormality of the humeral epiphyses
OBO:HP_0003892	Absent humeral epiphyseal ossification	biolink:OntologyClass	hp	UMLS:C4021713	Lack of formation of bone in the epiphysis of the humerus.	http://purl.obolibrary.org/obo/HP_0003892		Absent maturation of end part of long bone in upper arm|Absent ossification of the humeral epiphyses
OBO:HP_0003893	Advanced ossification of the humeral epiphysis	biolink:OntologyClass	hp	UMLS:C4020836|UMLS:C4025526	Ossification of the humeral epiphysis at an earlier age than normal.	http://purl.obolibrary.org/obo/HP_0003893		Accelerated maturation of end part of long bone in upper arm|Advanced maturation of the humeral epiphyses
OBO:HP_0003894	Delayed humeral epiphyseal ossification	biolink:OntologyClass	hp	UMLS:C4021712|UMLS:C4280543	A delay in the process of formation and maturation of the humeral epiphysis.	http://purl.obolibrary.org/obo/HP_0003894		Delayed maturation of the end part of the long bone in upper arm|Delayed maturation/delayed ossification of the humeral epiphyses
OBO:HP_0003895	Flattened humeral epiphyses	biolink:OntologyClass	hp	UMLS:C4025525		http://purl.obolibrary.org/obo/HP_0003895		Flattened end part of long bone in upper arm
OBO:HP_0003896	Irregular humeral epiphyses	biolink:OntologyClass	hp	UMLS:C4025524		http://purl.obolibrary.org/obo/HP_0003896		Irregular end part of long bone in upper arm
OBO:HP_0003897	Irregular ossification of the humeral epiphyses	biolink:OntologyClass	hp	UMLS:C4025523|UMLS:C4280542		http://purl.obolibrary.org/obo/HP_0003897		Irregular maturation of the end part of the long bone in upper arm
OBO:HP_0003898	Large humeral epiphyses	biolink:OntologyClass	hp	UMLS:C4025522		http://purl.obolibrary.org/obo/HP_0003898		Large end part of long bone in upper arm
OBO:HP_0003899	Round humeral epiphyses	biolink:OntologyClass	hp	UMLS:C4025521		http://purl.obolibrary.org/obo/HP_0003899		Round end part of long bone in upper arm
OBO:HP_0003900	Small humeral epiphyses	biolink:OntologyClass	hp	UMLS:C4025520		http://purl.obolibrary.org/obo/HP_0003900		Small end part of long bone in upper arm
OBO:HP_0003901	Stippled calcification of the humeral epiphyses	biolink:OntologyClass	hp	UMLS:C4025519		http://purl.obolibrary.org/obo/HP_0003901		
OBO:HP_0003902	Epiphyseal stippling of the humerus	biolink:OntologyClass	hp	UMLS:C4021711	The presence of abnormal punctate (speckled, dot-like) calcifications in the humeral epiphysis.	http://purl.obolibrary.org/obo/HP_0003902		Stippled ossification of the humeral epiphyses
OBO:HP_0003903	Broad humeral epiphyses	biolink:OntologyClass	hp	UMLS:C4021710	Increased width of the humeral epiphysis.	http://purl.obolibrary.org/obo/HP_0003903		Wide end part of long bone in upper arm|Wide humeral epiphyses
OBO:HP_0003904	Wide epiphyses of the upper limbs	biolink:OntologyClass	hp	UMLS:C4021709		http://purl.obolibrary.org/obo/HP_0003904		Wide end part of upper limb bones|Broad epiphyses of the upper limbs
OBO:HP_0003905	Abnormality of the humeral epiphyseal plate	biolink:OntologyClass	hp	UMLS:C4025518|UMLS:C4280541		http://purl.obolibrary.org/obo/HP_0003905		Abnormality of arm long bone growth plate
OBO:HP_0003906	Broad humeral epiphyseal plate	biolink:OntologyClass	hp	UMLS:C4021708|UMLS:C4280540	Increased width of the humeral epiphyseal growth plate.	http://purl.obolibrary.org/obo/HP_0003906		Wide long bone of arm growth plate|Wide humeral epiphyseal plate
OBO:HP_0003907	Abnormality of the humeral metaphyses	biolink:OntologyClass	hp	UMLS:C4025517		http://purl.obolibrary.org/obo/HP_0003907		Abnormality of the wide portion of the long bone in upper arm
OBO:HP_0003908	Corner fracture of metaphysis	biolink:OntologyClass	hp	UMLS:C4025516	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.	http://purl.obolibrary.org/obo/HP_0003908		Bucket handle fracture|Metaphyseal corner fracture
OBO:HP_0003909	Cortical subperiosteal resorption of humeral metaphyses	biolink:OntologyClass	hp	UMLS:C4025515		http://purl.obolibrary.org/obo/HP_0003909		
OBO:HP_0003910	Enlarged humeral metaphyses	biolink:OntologyClass	hp	UMLS:C4021707		http://purl.obolibrary.org/obo/HP_0003910		Enlarged wide portion of long bone of upper arm|Expanded humeral metaphyses
OBO:HP_0003911	Flared humeral metaphysis	biolink:OntologyClass	hp	UMLS:C4020835|UMLS:C4020912	Flaring (increase of width with a splayed appearance) of the humeral metaphysis.	http://purl.obolibrary.org/obo/HP_0003911		Flared wide portion of long bone of upper arm|Wide/broad humeral metaphysis|Flared humerus
OBO:HP_0003912	Frayed humeral metaphyses	biolink:OntologyClass	hp	UMLS:C4025514		http://purl.obolibrary.org/obo/HP_0003912		
OBO:HP_0003913	Humeral metaphyseal irregularity	biolink:OntologyClass	hp	UMLS:C4021706		http://purl.obolibrary.org/obo/HP_0003913		Irregular wide portion of long bone in upper arm|Irregular humeral metaphyses
OBO:HP_0003914	Irregular ossification of humeral metaphyses	biolink:OntologyClass	hp	UMLS:C4025513		http://purl.obolibrary.org/obo/HP_0003914		Irregular bone maturation of the wide portion of the long bone in upper arm
OBO:HP_0003915	Lytic defects of the humeral metaphysis	biolink:OntologyClass	hp	UMLS:C4025512		http://purl.obolibrary.org/obo/HP_0003915		
OBO:HP_0003916	Normal-density transverse humeral bands	biolink:OntologyClass	hp	UMLS:C4025511		http://purl.obolibrary.org/obo/HP_0003916		
OBO:HP_0003917	Pointed humeral metaphysis	biolink:OntologyClass	hp	UMLS:C4025510		http://purl.obolibrary.org/obo/HP_0003917		Pointed wide portion of long bone of upper arm
OBO:HP_0003918	Sclerotic humeral metaphysis	biolink:OntologyClass	hp	UMLS:C4025509		http://purl.obolibrary.org/obo/HP_0003918		Hardening of wide portion of long bone of upper arm|Stiffening of wide portion of long bone of upper arm
OBO:HP_0003919	Sclerotic humeral metaphysis with longitudinal striations	biolink:OntologyClass	hp	UMLS:C4025508		http://purl.obolibrary.org/obo/HP_0003919		
OBO:HP_0003920	Sloping humeral metaphysis	biolink:OntologyClass	hp	UMLS:C4025507		http://purl.obolibrary.org/obo/HP_0003920		Sloping metaphysis of long bone of upper arm
OBO:HP_0003921	Laterally sloping humeral metaphysis	biolink:OntologyClass	hp	UMLS:C4025506		http://purl.obolibrary.org/obo/HP_0003921		Laterally sloping metaphysis of long bone of upper arm
OBO:HP_0003922	Spurred humeral metaphysis	biolink:OntologyClass	hp	UMLS:C4025505		http://purl.obolibrary.org/obo/HP_0003922		Spurred metaphysis of long bone of upper arm
OBO:HP_0003923	Square humeral metaphysis	biolink:OntologyClass	hp	UMLS:C4025504		http://purl.obolibrary.org/obo/HP_0003923		Square metaphysis of long bone of upper arm
OBO:HP_0003924	Stippled calcification of humeral metaphysis	biolink:OntologyClass	hp	UMLS:C4025503		http://purl.obolibrary.org/obo/HP_0003924		Speckled calcification in metaphysis of long bone of upper arm
OBO:HP_0003926	Abnormality of the humeral diaphysis	biolink:OntologyClass	hp	UMLS:C4025502	An anomaly of the humeral diaphysis.	http://purl.obolibrary.org/obo/HP_0003926		Abnormality of shaft of long bone in upper arm
OBO:HP_0003927	Cortical irregularity of humeral diaphysis	biolink:OntologyClass	hp	UMLS:C4025501	An abnormal irregularity of the cortical surface of the diaphysis (shaft) of the humerus.	http://purl.obolibrary.org/obo/HP_0003927		
OBO:HP_0003928	Cortical thickening of humeral diaphysis	biolink:OntologyClass	hp	UMLS:C4025500		http://purl.obolibrary.org/obo/HP_0003928		
OBO:HP_0003929	Ground glass opacity of humeral diaphysis	biolink:OntologyClass	hp	UMLS:C4025499		http://purl.obolibrary.org/obo/HP_0003929		
OBO:HP_0003930	Lytic defects of humeral diaphysis	biolink:OntologyClass	hp	UMLS:C4021705		http://purl.obolibrary.org/obo/HP_0003930		Humeral diaphyseal lysis
OBO:HP_0003931	Periosteal new bone of humeral diaphysis	biolink:OntologyClass	hp	UMLS:C4025498		http://purl.obolibrary.org/obo/HP_0003931		
OBO:HP_0003932	Sclerotic foci of humeral diaphysis	biolink:OntologyClass	hp	UMLS:C4025497		http://purl.obolibrary.org/obo/HP_0003932		
OBO:HP_0003933	Sclerosis of humeral diaphysis	biolink:OntologyClass	hp	UMLS:C4025496		http://purl.obolibrary.org/obo/HP_0003933		Increased bone density in shaft of long bone in upper arm
OBO:HP_0003934	Slender humeral diaphysis	biolink:OntologyClass	hp	UMLS:C4025495		http://purl.obolibrary.org/obo/HP_0003934		Slender shaft of long bone in upper arm
OBO:HP_0003935	Wide humeral diaphysis	biolink:OntologyClass	hp	UMLS:C4021704	Increased width of the humeral diaphysis.	http://purl.obolibrary.org/obo/HP_0003935		Broad shaft of long bone in upper arm|Wide shaft of long bone in upper arm|Broad humeral diaphysis
OBO:HP_0003938	Synostosis involving the elbow	biolink:OntologyClass	hp	UMLS:C4025494		http://purl.obolibrary.org/obo/HP_0003938		Bone fusion involving the elbow
OBO:HP_0003939	Humeroulnar synostosis	biolink:OntologyClass	hp	SNOMEDCT_US:205330003|UMLS:C0431799	An abnormal osseous union (fusion) between the ulna and the humerus.	http://purl.obolibrary.org/obo/HP_0003939		Humeral ulnar synostosis
OBO:HP_0003940	Osteoarthritis of the elbow	biolink:OntologyClass	hp	SNOMEDCT_US:239866002|UMLS:C0409954		http://purl.obolibrary.org/obo/HP_0003940		
OBO:HP_0003941	Stippled calcification of the elbow	biolink:OntologyClass	hp	UMLS:C4025493		http://purl.obolibrary.org/obo/HP_0003941		
OBO:HP_0003942	Synovial chondromatosis of the elbow	biolink:OntologyClass	hp	UMLS:C4025492		http://purl.obolibrary.org/obo/HP_0003942		
OBO:HP_0003943	Abnormality of the joint spaces of the elbow	biolink:OntologyClass	hp	UMLS:C4025491		http://purl.obolibrary.org/obo/HP_0003943		Abnormality of the joint spaces of the elbow
OBO:HP_0003944	Narrow joint spaces of the elbow	biolink:OntologyClass	hp	UMLS:C4025490		http://purl.obolibrary.org/obo/HP_0003944		Narrow joint spaces of the elbow
OBO:HP_0003945	Irregular articular surfaces of the elbow joints	biolink:OntologyClass	hp	UMLS:C4025489		http://purl.obolibrary.org/obo/HP_0003945		
OBO:HP_0003946	Abnormality of the epiphyses of the elbow	biolink:OntologyClass	hp	UMLS:C4025488		http://purl.obolibrary.org/obo/HP_0003946		Abnormality of end part of the elbow bone
OBO:HP_0003947	Delayed elbow epiphyseal ossification	biolink:OntologyClass	hp	UMLS:C4025487	A delay in the process of formation and maturation of the epiphysis of one or more long bones that are part of the elbow.	http://purl.obolibrary.org/obo/HP_0003947		Delayed maturation of the end part of the elbow bone
OBO:HP_0003948	Irregular epiphyses of the elbow	biolink:OntologyClass	hp	UMLS:C4025486		http://purl.obolibrary.org/obo/HP_0003948		Irregular end part of the elbow bone
OBO:HP_0003949	Abnormality of the elbow metaphyses	biolink:OntologyClass	hp	UMLS:C4025485		http://purl.obolibrary.org/obo/HP_0003949		Abnormal wide portion of elbow bone
OBO:HP_0003950	Flared elbow metaphyses	biolink:OntologyClass	hp	UMLS:C4025484		http://purl.obolibrary.org/obo/HP_0003950		Flared wide portion of elbow bone
OBO:HP_0003951	Distal humeral metaphyseal irregularity	biolink:OntologyClass	hp	UMLS:C4021703	Irregularity of the normally smooth surface of the metaphysis at the distal end of the humerus (at the elbow).	http://purl.obolibrary.org/obo/HP_0003951		Irregular wide portion of elbow bone|Irregular metaphyses of elbow
OBO:HP_0003952	Sclerotic foci of metaphyses of the elbow	biolink:OntologyClass	hp	UMLS:C4021702		http://purl.obolibrary.org/obo/HP_0003952		Vertical linear mixed lucent and sclerotic pattern of metaphyses
OBO:HP_0003953	Absent forearm bone	biolink:OntologyClass	hp	UMLS:C4021701	Absence of one or more forearm bones associated with congenital failure of development.	http://purl.obolibrary.org/obo/HP_0003953		Absent forearm bone|Aplasia of the forearm bones
OBO:HP_0003954	Angulated forearm bones	biolink:OntologyClass	hp	UMLS:C4025483		http://purl.obolibrary.org/obo/HP_0003954		Angulated forearm bones
OBO:HP_0003955	Bone-in-a-bone appearance of forearm	biolink:OntologyClass	hp	UMLS:C4025482	A descriptive term for a forearm bone that appears to have an additional bone within it on radiography.	http://purl.obolibrary.org/obo/HP_0003955		Bone-in-a-bone appearance of forearm
OBO:HP_0003956	Bowed forearm bones	biolink:OntologyClass	hp	UMLS:C4025481	A bending or abnormal curvature affecting either the radius, the ulna, or both.	http://purl.obolibrary.org/obo/HP_0003956		Bowed forearm bones
OBO:HP_0003957	Cortical thickening of the forearm bones	biolink:OntologyClass	hp	UMLS:C4021842		http://purl.obolibrary.org/obo/HP_0003957		
OBO:HP_0003958	Cross-fusion of the forearm bones	biolink:OntologyClass	hp	UMLS:C4025480		http://purl.obolibrary.org/obo/HP_0003958		
OBO:HP_0003959	Deformed forearm bones	biolink:OntologyClass	hp	UMLS:C4025479		http://purl.obolibrary.org/obo/HP_0003959		Deformed forearm bones
OBO:HP_0003960	Exostoses of the forearm bones	biolink:OntologyClass	hp	UMLS:C4025478		http://purl.obolibrary.org/obo/HP_0003960		
OBO:HP_0003961	Fractured forearm bones	biolink:OntologyClass	hp	UMLS:C4025477	Bone fracture in the radius, ulna, or wrist.	http://purl.obolibrary.org/obo/HP_0003961		Fractured forearm bones|Broken forearm|Fracture of the forearm
OBO:HP_0003963	Lytic defects of the forearm bones	biolink:OntologyClass	hp	UMLS:C4025476		http://purl.obolibrary.org/obo/HP_0003963		
OBO:HP_0003964	Osteoporotic forearm bones	biolink:OntologyClass	hp	UMLS:C4025475		http://purl.obolibrary.org/obo/HP_0003964		
OBO:HP_0003965	Pseudarthrosis of the forearm bones	biolink:OntologyClass	hp	UMLS:C4025474		http://purl.obolibrary.org/obo/HP_0003965		
OBO:HP_0003966	Sclerotic foci in forearm bones	biolink:OntologyClass	hp	UMLS:C4025473		http://purl.obolibrary.org/obo/HP_0003966		
OBO:HP_0003967	Sclerotic forearm bones	biolink:OntologyClass	hp	UMLS:C4025472		http://purl.obolibrary.org/obo/HP_0003967		Increased bone density of forearm bones
OBO:HP_0003969	Slender forearm bones	biolink:OntologyClass	hp	UMLS:C4025471		http://purl.obolibrary.org/obo/HP_0003969		
OBO:HP_0003970	Undermodelled forearm bones	biolink:OntologyClass	hp	UMLS:C4025470		http://purl.obolibrary.org/obo/HP_0003970		
OBO:HP_0003971	Broad forearm bones	biolink:OntologyClass	hp	UMLS:C4021700	Abnormally wide bone of the skeleton of forearm.	http://purl.obolibrary.org/obo/HP_0003971		Broad forearm bones|Wide forearm bones
OBO:HP_0003973	Wide radioulnar joints	biolink:OntologyClass	hp	UMLS:C4021699		http://purl.obolibrary.org/obo/HP_0003973		Broad radioulnar joints
OBO:HP_0003974	Absent radius	biolink:OntologyClass	hp	UMLS:C1405984|UMLS:C1838608|UMLS:C1849314	Missing radius bone associated with congenital failure of development.	http://purl.obolibrary.org/obo/HP_0003974	hposlim_core	Missing outer large bone of forearm|Absent ossification/absence of radius|Aplasia of the radius|Radial aplasia|absence of radius and ulna
OBO:HP_0003975	obsolete Chevron-shaped/cone-shaped radius	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0003975		
OBO:HP_0003976	Constricted radius	biolink:OntologyClass	hp	UMLS:C4025468		http://purl.obolibrary.org/obo/HP_0003976		
OBO:HP_0003977	Deformed radius	biolink:OntologyClass	hp	UMLS:C4025467		http://purl.obolibrary.org/obo/HP_0003977		
OBO:HP_0003978	Fractured radius	biolink:OntologyClass	hp	MSH:D011885|SNOMEDCT_US:12676007|UMLS:C0034628		http://purl.obolibrary.org/obo/HP_0003978		
OBO:HP_0003979	Lytic defects of the radius	biolink:OntologyClass	hp	UMLS:C4021841		http://purl.obolibrary.org/obo/HP_0003979		
OBO:HP_0003980	Pseudarthrosis of the radius	biolink:OntologyClass	hp	UMLS:C4025466		http://purl.obolibrary.org/obo/HP_0003980		
OBO:HP_0003981	Broad radius	biolink:OntologyClass	hp	UMLS:C4021698	Increased width of the radius.	http://purl.obolibrary.org/obo/HP_0003981		Wide radius
OBO:HP_0003982	Aplasia of the ulna	biolink:OntologyClass	hp	UMLS:C2678397	Missing ulna bone associated with congenital failure of development.	http://purl.obolibrary.org/obo/HP_0003982	hposlim_core	Absent ossification/absent ulna|Absent ulna|Absent ulnae
OBO:HP_0003984	Posteriorly dislocated ulna	biolink:OntologyClass	hp	UMLS:C4025465		http://purl.obolibrary.org/obo/HP_0003984		
OBO:HP_0003985	Exostoses of the ulna	biolink:OntologyClass	hp	UMLS:C4025464		http://purl.obolibrary.org/obo/HP_0003985		
OBO:HP_0003986	Exostoses of the radius	biolink:OntologyClass	hp	UMLS:C4025463		http://purl.obolibrary.org/obo/HP_0003986		
OBO:HP_0003987	Fractured ulna	biolink:OntologyClass	hp	MSH:D014458|SNOMEDCT_US:54556006|UMLS:C0041601		http://purl.obolibrary.org/obo/HP_0003987		
OBO:HP_0003988	Long ulna	biolink:OntologyClass	hp	UMLS:C1848108	Increased length of the ulna.	http://purl.obolibrary.org/obo/HP_0003988	hposlim_core	Disproportionately long ulnae
OBO:HP_0003989	Notched ulna	biolink:OntologyClass	hp	UMLS:C4025462		http://purl.obolibrary.org/obo/HP_0003989		
OBO:HP_0003990	Pointed ulna	biolink:OntologyClass	hp	UMLS:C4025461		http://purl.obolibrary.org/obo/HP_0003990		
OBO:HP_0003991	Osteosclerosis of the ulna	biolink:OntologyClass	hp	UMLS:C4021697	Osteosclerosis (increased density related to increased bone mass) of the ulna.	http://purl.obolibrary.org/obo/HP_0003991		Sclerotic ulna
OBO:HP_0003992	Slender ulna	biolink:OntologyClass	hp	UMLS:C1968814	Reduction in diameter of the ulna.	http://purl.obolibrary.org/obo/HP_0003992		
OBO:HP_0003993	Broad ulna	biolink:OntologyClass	hp	UMLS:C4020692|UMLS:C4025460	Increased width of the ulna.	http://purl.obolibrary.org/obo/HP_0003993		Wide ulna
OBO:HP_0003994	Dislocated wrist	biolink:OntologyClass	hp	MEDDRA:10013184|SNOMEDCT_US:125618007|UMLS:C0159941	An injury of the wrist with displacement of any of the eight carpal bones.	http://purl.obolibrary.org/obo/HP_0003994		Dislocated wrist|Dislocations of the wrists
OBO:HP_0003995	Abnormality of the radial head	biolink:OntologyClass	hp	UMLS:C4021696		http://purl.obolibrary.org/obo/HP_0003995		Deformity of radial heads
OBO:HP_0003996	Flattened radial head	biolink:OntologyClass	hp	UMLS:C4025459		http://purl.obolibrary.org/obo/HP_0003996		
OBO:HP_0003997	Hypoplastic radial head	biolink:OntologyClass	hp	UMLS:C4021695		http://purl.obolibrary.org/obo/HP_0003997		Small radial head
OBO:HP_0003998	Constricted radial neck	biolink:OntologyClass	hp	UMLS:C4025458		http://purl.obolibrary.org/obo/HP_0003998		
OBO:HP_0003999	Abnormality of radial epiphyses	biolink:OntologyClass	hp	UMLS:C4021694		http://purl.obolibrary.org/obo/HP_0003999		Abnormality of radial epiphyseal plates
OBO:HP_0004000	Cone-shaped distal radial epiphysis	biolink:OntologyClass	hp	UMLS:C4025457	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.	http://purl.obolibrary.org/obo/HP_0004000		Chevron-shaped distal radial epiphysis
OBO:HP_0004001	Medially deficient radial epiphyses	biolink:OntologyClass	hp	UMLS:C4025456		http://purl.obolibrary.org/obo/HP_0004001		
OBO:HP_0004002	Flattened radial epiphyses	biolink:OntologyClass	hp	UMLS:C4025455		http://purl.obolibrary.org/obo/HP_0004002		
OBO:HP_0004003	Medially flattened radial epiphyses	biolink:OntologyClass	hp	UMLS:C4025454		http://purl.obolibrary.org/obo/HP_0004003		
OBO:HP_0004004	Irregular radial epiphyses	biolink:OntologyClass	hp	UMLS:C4025453		http://purl.obolibrary.org/obo/HP_0004004		
OBO:HP_0004005	Large radial epiphyses	biolink:OntologyClass	hp	UMLS:C4025452		http://purl.obolibrary.org/obo/HP_0004005		
OBO:HP_0004006	Round radial epiphyses	biolink:OntologyClass	hp	UMLS:C4025451		http://purl.obolibrary.org/obo/HP_0004006		
OBO:HP_0004007	Sclerotic radial epiphyses	biolink:OntologyClass	hp	UMLS:C4025450		http://purl.obolibrary.org/obo/HP_0004007		
OBO:HP_0004008	Sloping radial epiphyses	biolink:OntologyClass	hp	UMLS:C4025449		http://purl.obolibrary.org/obo/HP_0004008		
OBO:HP_0004009	Medially sloping radial epiphyses	biolink:OntologyClass	hp	UMLS:C4025448		http://purl.obolibrary.org/obo/HP_0004009		
OBO:HP_0004010	Small radial epiphyses	biolink:OntologyClass	hp	UMLS:C4025447		http://purl.obolibrary.org/obo/HP_0004010		
OBO:HP_0004012	Premature fusion of the radial epiphyseal plates	biolink:OntologyClass	hp	UMLS:C4025446	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.	http://purl.obolibrary.org/obo/HP_0004012		
OBO:HP_0004013	Medially fused radial epiphyseal plates	biolink:OntologyClass	hp	UMLS:C4025445		http://purl.obolibrary.org/obo/HP_0004013		
OBO:HP_0004014	Broad radial epiphyseal plate	biolink:OntologyClass	hp	UMLS:C4021693	Abnormal increase in width of the epiphyseal growth plate of the radius.	http://purl.obolibrary.org/obo/HP_0004014		Wide radial epiphyseal plates
OBO:HP_0004015	Abnormality of radial metaphyses	biolink:OntologyClass	hp	UMLS:C4025444		http://purl.obolibrary.org/obo/HP_0004015		
OBO:HP_0004016	Cupped radial metaphyses	biolink:OntologyClass	hp	UMLS:C4025443		http://purl.obolibrary.org/obo/HP_0004016		
OBO:HP_0004017	Exostoses of the radial metaphysis	biolink:OntologyClass	hp	UMLS:C4025442		http://purl.obolibrary.org/obo/HP_0004017		
OBO:HP_0004018	Flared radial metaphysis	biolink:OntologyClass	hp	UMLS:C4025441	The presence of a splayed (i.e.,flared) metaphyseal segment of the radius.	http://purl.obolibrary.org/obo/HP_0004018		Broadening of the distal radius
OBO:HP_0004019	Radial metaphyseal irregularity	biolink:OntologyClass	hp	UMLS:C4021692	Irregularity of the normally smooth surface of the metaphysis of the radius.	http://purl.obolibrary.org/obo/HP_0004019		Irregular radial metaphysis
OBO:HP_0004020	Irregular ossification of the radial metaphysis	biolink:OntologyClass	hp	UMLS:C4025440		http://purl.obolibrary.org/obo/HP_0004020		
OBO:HP_0004021	Lytic defects of radial metaphysis	biolink:OntologyClass	hp	UMLS:C4025439		http://purl.obolibrary.org/obo/HP_0004021		
OBO:HP_0004022	Sclerotic radial metaphysis with longitudinal striations	biolink:OntologyClass	hp	UMLS:C4025438		http://purl.obolibrary.org/obo/HP_0004022		
OBO:HP_0004023	Sloping radial metaphysis	biolink:OntologyClass	hp	UMLS:C4025437		http://purl.obolibrary.org/obo/HP_0004023		
OBO:HP_0004024	Medially sloping radial metaphysis	biolink:OntologyClass	hp	UMLS:C4025436		http://purl.obolibrary.org/obo/HP_0004024		
OBO:HP_0004025	Spurred radial metaphysis	biolink:OntologyClass	hp	UMLS:C4025435		http://purl.obolibrary.org/obo/HP_0004025		
OBO:HP_0004026	Broad radial metaphysis	biolink:OntologyClass	hp	UMLS:C4021691	Increase in width (breadth) of the radial metaphysis.	http://purl.obolibrary.org/obo/HP_0004026		Wide radial metaphysis
OBO:HP_0004027	Abnormality of radial diaphysis	biolink:OntologyClass	hp	UMLS:C4025434	An anomaly of the radial diaphysis.	http://purl.obolibrary.org/obo/HP_0004027		
OBO:HP_0004028	Spurs of radial diaphysis	biolink:OntologyClass	hp	UMLS:C4025433		http://purl.obolibrary.org/obo/HP_0004028		
OBO:HP_0004029	Lytic defects of radial diaphysis	biolink:OntologyClass	hp	UMLS:C4025432		http://purl.obolibrary.org/obo/HP_0004029		
OBO:HP_0004030	Patchy sclerosis of radial diaphysis	biolink:OntologyClass	hp	UMLS:C4025431		http://purl.obolibrary.org/obo/HP_0004030		
OBO:HP_0004031	Broad radial diaphysis	biolink:OntologyClass	hp	UMLS:C4021690	Increase in width of the diaphysis of radius.	http://purl.obolibrary.org/obo/HP_0004031		Wide radial diaphysis
OBO:HP_0004032	Abnormality of the olecranon	biolink:OntologyClass	hp	UMLS:C4025430		http://purl.obolibrary.org/obo/HP_0004032		
OBO:HP_0004033	Curved olecranon	biolink:OntologyClass	hp	UMLS:C4025429		http://purl.obolibrary.org/obo/HP_0004033		
OBO:HP_0004034	Irregular olecranon	biolink:OntologyClass	hp	UMLS:C4025428		http://purl.obolibrary.org/obo/HP_0004034		
OBO:HP_0004035	Abnormality of the styloid process of ulna	biolink:OntologyClass	hp	UMLS:C4025427		http://purl.obolibrary.org/obo/HP_0004035		
OBO:HP_0004036	Long styloid process of ulna	biolink:OntologyClass	hp	UMLS:C4025426		http://purl.obolibrary.org/obo/HP_0004036		
OBO:HP_0004037	Abnormality of the ulnar epiphyses	biolink:OntologyClass	hp	UMLS:C4021689		http://purl.obolibrary.org/obo/HP_0004037		Abnormality of the epiphyseal plate of the ulna
OBO:HP_0004038	obsolete Bony spicule of ulnar epiphyseal plate	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0004038		
OBO:HP_0004039	Abnormality of ulnar metaphysis	biolink:OntologyClass	hp	UMLS:C4025424		http://purl.obolibrary.org/obo/HP_0004039		
OBO:HP_0004040	Corner fragments of ulnar metaphysis	biolink:OntologyClass	hp	UMLS:C4025423		http://purl.obolibrary.org/obo/HP_0004040		
OBO:HP_0004041	Cupped ulnar metaphysis	biolink:OntologyClass	hp	UMLS:C4025422		http://purl.obolibrary.org/obo/HP_0004041		
OBO:HP_0004042	Ulnar metaphyseal irregularity	biolink:OntologyClass	hp	UMLS:C4021688	Irregularity of the normally smooth surface of the metaphysis of the ulna.	http://purl.obolibrary.org/obo/HP_0004042		Irregular ulnar metaphysis
OBO:HP_0004043	Lytic defects of ulnar metaphysis	biolink:OntologyClass	hp	UMLS:C4025421		http://purl.obolibrary.org/obo/HP_0004043		
OBO:HP_0004044	Pointed ulnar metaphysis	biolink:OntologyClass	hp	UMLS:C4025420		http://purl.obolibrary.org/obo/HP_0004044		
OBO:HP_0004045	Sloping ulnar metaphysis	biolink:OntologyClass	hp	UMLS:C4025419	A sloped configuration of the metaphysis (shaft) of the ulna.	http://purl.obolibrary.org/obo/HP_0004045		
OBO:HP_0004046	Spurred ulnar metaphysis	biolink:OntologyClass	hp	UMLS:C4025418		http://purl.obolibrary.org/obo/HP_0004046		
OBO:HP_0004047	Wide ulnar metaphysis	biolink:OntologyClass	hp	UMLS:C4021687	Increase in width (breadth) of the ulnar metaphysis.	http://purl.obolibrary.org/obo/HP_0004047		Broad ulnar metaphysis
OBO:HP_0004048	Narrow joint spaces of wrist	biolink:OntologyClass	hp	UMLS:C4025417		http://purl.obolibrary.org/obo/HP_0004048		
OBO:HP_0004049	Decreased carpal angles of wrist	biolink:OntologyClass	hp	UMLS:C4025416		http://purl.obolibrary.org/obo/HP_0004049		
OBO:HP_0004050	Absent hand	biolink:OntologyClass	hp	SNOMEDCT_US:371199008|UMLS:C0265594	The total absence of the hand, with no bony elements distal to the radius or ulna.	http://purl.obolibrary.org/obo/HP_0004050	hposlim_core	Absent hand|Acheiria
OBO:HP_0004051	Advanced ossification of the hand bones	biolink:OntologyClass	hp	UMLS:C4020834	Ossification of hand bones at an earlier age than normal.	http://purl.obolibrary.org/obo/HP_0004051		Accelerated maturation of hand bones|Advanced maturation of the hand bones
OBO:HP_0004052	Delayed ossification of the hand bones	biolink:OntologyClass	hp	UMLS:C4020833|UMLS:C4021686	Ossification of hand bones is less advanced than would be expected according to age-adjusted norms.	http://purl.obolibrary.org/obo/HP_0004052		Delayed maturation of the hand bones|Delay maturation/delayed ossification of the hand
OBO:HP_0004053	Dysharmonic maturation of the hand bones	biolink:OntologyClass	hp	UMLS:C4021685	Pattern of hand-wrist development does not fit the normal sequence of ossification of the individual bones of the hand.	http://purl.obolibrary.org/obo/HP_0004053		Disharmonic maturation of the hand bones|Dysharmonic ossification of the hand bones
OBO:HP_0004054	Sclerosis of hand bone	biolink:OntologyClass	hp	UMLS:C4021684	Osteosclerosis affecting one or more bones of the hand.	http://purl.obolibrary.org/obo/HP_0004054		Increased bone density in hand bone|Generalized sclerosis of hand bones|Hand bone sclerosis|Increased bone density in hand bones
OBO:HP_0004057	Mitten deformity	biolink:OntologyClass	hp	UMLS:C1969236	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.	http://purl.obolibrary.org/obo/HP_0004057		Pseudosyndactyly
OBO:HP_0004058	Hand monodactyly	biolink:OntologyClass	hp	UMLS:C4025415		http://purl.obolibrary.org/obo/HP_0004058		
OBO:HP_0004059	Radial club hand	biolink:OntologyClass	hp	UMLS:C4025414	Wrist is bent inward toward the thumb because of a congenital defect associated with shortening or absence of the radius.	http://purl.obolibrary.org/obo/HP_0004059		
OBO:HP_0004060	Trident hand	biolink:OntologyClass	hp	SNOMEDCT_US:249755001|UMLS:C0426874	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.	http://purl.obolibrary.org/obo/HP_0004060	hposlim_core	trident abnormality|trident deformity
OBO:HP_0004066	obsolete Laterally deviated thumb phalanges	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0004066		
OBO:HP_0004083	obsolete Laterally deviated terminal thumb phalanx	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0004083		
OBO:HP_0004090	obsolete Advanced maturation/advanced ossification of terminal thumb phalanx epiphysis	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0004090		
OBO:HP_0004095	Curved fingers	biolink:OntologyClass	hp	UMLS:C4025413		http://purl.obolibrary.org/obo/HP_0004095		Curved fingers
OBO:HP_0004097	Deviation of finger	biolink:OntologyClass	hp	SNOMEDCT_US:203556007|SNOMEDCT_US:26517000|UMLS:C0410740	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.	http://purl.obolibrary.org/obo/HP_0004097		Atypical position of finger|Finger pointing in a different direction than usual|Deviated fingers
OBO:HP_0004099	Macrodactyly	biolink:OntologyClass	hp	MEDDRA:10025386|MSH:C562546|SNOMEDCT_US:48449000|UMLS:C0265552	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.	http://purl.obolibrary.org/obo/HP_0004099	hposlim_core	Finger overgrowth|Megalodactyly
OBO:HP_0004100	Abnormal 2nd finger morphology	biolink:OntologyClass	hp	UMLS:C4021683	An anomaly of the second finger, also known as the index finger.	http://purl.obolibrary.org/obo/HP_0004100		Abnormality of index finger|Abnormality of the 2nd finger
OBO:HP_0004110	obsolete Radially deviated index finger phalanges	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0004110		
OBO:HP_0004112	Midline nasal groove	biolink:OntologyClass	hp	UMLS:C4025412	An abnormal groove on the midline of the nose that may extend to the nasal tip.	http://purl.obolibrary.org/obo/HP_0004112		Central nasal groove|Midline nasal groove
OBO:HP_0004121	obsolete Radially displaced proximal index finger phalanx	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0004121		
OBO:HP_0004122	Midline defect of the nose	biolink:OntologyClass	hp	UMLS:C4025411|UMLS:C4280539	This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip.	http://purl.obolibrary.org/obo/HP_0004122		Midline defect of the nose|Central cleft of nose|Midline cleft of nose|Central defect of nose|Central nasal defect|Midline nasal defect
OBO:HP_0004132	Dimple on nasal tip	biolink:OntologyClass	hp	UMLS:C1863349	An abnormal indentation of the skin in the region of the nasal tip.	http://purl.obolibrary.org/obo/HP_0004132		Dimple on nasal tip|Dimpled tip of nose
OBO:HP_0004138	obsolete Metaphyseal abnormality of middle phalanx of the 2nd finger	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0004138		
OBO:HP_0004139	obsolete Flared metaphysis of middle phalanx of index finger	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0004139		
OBO:HP_0004143	obsolete Radially deviated terminal index finger phalanx	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0004143		
OBO:HP_0004144	obsolete Duplication of terminal index finger phalanx	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0004144		
OBO:HP_0004150	Abnormal 3rd finger morphology	biolink:OntologyClass	hp	UMLS:C4021682	An anomaly of the third finger.	http://purl.obolibrary.org/obo/HP_0004150		Abnormality of the 3rd finger|Abnormality of the middle finger
OBO:HP_0004153	obsolete Overgrowth of middle finger	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0004153		
OBO:HP_0004157	obsolete Accessory middle-finger phalanges	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0004157		
OBO:HP_0004161	obsolete Periosteal new bone of middle finger phalanges	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0004161		
OBO:HP_0004162	obsolete Radially pointed middle finger phalanges	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0004162		
OBO:HP_0004168	obsolete Radially pointed proximal middle-finger phalanx	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0004168		
OBO:HP_0004172	Abnormality of the middle phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4025410		http://purl.obolibrary.org/obo/HP_0004172		Abnormal middle finger bone of the middle finger
OBO:HP_0004174	obsolete Accessory middle phalanx of middle finger	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0004174		
OBO:HP_0004175	obsolete Periosteal new bone of middle phalanx of middle-finger	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0004175		
OBO:HP_0004180	Short distal phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4021681	Hypoplasia (congenital reduction in size) of the distal phalanx of the third finger.	http://purl.obolibrary.org/obo/HP_0004180		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
OBO:HP_0004183	obsolete Abnormality of the epiphyses of the terminal phalanx of the middle finger	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0004183		
OBO:HP_0004184	obsolete Cone-shaped epiphysis of terminal phalanx of the middle finger	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0004184		
OBO:HP_0004185	obsolete Fused epiphysis of terminal phalanx of the middle finger	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0004185		
OBO:HP_0004186	obsolete Large epiphysis of terminal phalanx of the middle finger	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0004186		
OBO:HP_0004187	obsolete Prematurely fused epiphysis of terminal phalanx of the middle finger	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0004187		
OBO:HP_0004188	Abnormal 4th finger morphology	biolink:OntologyClass	hp	UMLS:C4021680		http://purl.obolibrary.org/obo/HP_0004188		Abnormality of the 4th finger|Abnormality of the ring finger
OBO:HP_0004192	obsolete Bracket epiphyses of the 4th finger	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0004192		
OBO:HP_0004193	obsolete Expanded phalanges of the ring finger	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0004193		
OBO:HP_0004194	obsolete Hypoplastic phalanges of the ring finger	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0004194		
OBO:HP_0004195	Osteolytic defects of the phalanges of the 4th finger	biolink:OntologyClass	hp	UMLS:C4020832|UMLS:C4025409	Osteolytic defects of the phalanges of the 4th (ring) finger.	http://purl.obolibrary.org/obo/HP_0004195		Lytic defects of the phalanges of the ring finger
OBO:HP_0004196	obsolete Short phalanges of the ring finger	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0004196		
OBO:HP_0004197	Symphalangism of the 4th finger	biolink:OntologyClass	hp	UMLS:C4021679	Fusion of two or more bones of the 4th finger.	http://purl.obolibrary.org/obo/HP_0004197		Fused ring finger bones|Symphalangism of the ring finger
OBO:HP_0004198	obsolete Wide/broad phalanges of the ring finger	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0004198		
OBO:HP_0004201	obsolete Expanded proximal phalanx of the ring finger	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0004201		
OBO:HP_0004202	obsolete Lytic defects of the proximal phalanx of the ring finger	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0004202		
OBO:HP_0004203	obsolete Short proximal phalanx of the ring finger	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0004203		
OBO:HP_0004207	Abnormal 5th finger morphology	biolink:OntologyClass	hp	UMLS:C4021678	An abnormality affecting one or both 5th fingers.	http://purl.obolibrary.org/obo/HP_0004207		Abnormality of the little finger|Abnormality of the pinkie finger|Abnormality of the pinky finger|Abnormality of the 5th finger
OBO:HP_0004209	Clinodactyly of the 5th finger	biolink:OntologyClass	hp	UMLS:C1850049|UMLS:C4280538	Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).	http://purl.obolibrary.org/obo/HP_0004209		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
OBO:HP_0004213	Abnormal 5th finger phalanx morphology	biolink:OntologyClass	hp	UMLS:C4025408	Abnormality of the phalanges of the 5th (little) finger.	http://purl.obolibrary.org/obo/HP_0004213		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
OBO:HP_0004214	Curved phalanges of the 5th finger	biolink:OntologyClass	hp	UMLS:C4025407	Curved phalanges of the 5th (little) finger.	http://purl.obolibrary.org/obo/HP_0004214		Curved little finger bone|Curved pinkie finger bone|Curved pinky finger bone
OBO:HP_0004216	Osteolytic defects of the phalanges of the 5th finger	biolink:OntologyClass	hp	UMLS:C4021677	Dissolution or degeneration of bone tissue of the phalanges of the 5th finger.	http://purl.obolibrary.org/obo/HP_0004216		Lytic defects of the phalanges of the little finger
OBO:HP_0004218	Symphalangism of the 5th finger	biolink:OntologyClass	hp	UMLS:C4021676	Fusion of two or more bones of the 5th finger.	http://purl.obolibrary.org/obo/HP_0004218		Fused little finger bones|Fused pinkie finger bones|Fused pinky finger bones|Fifth finger symphalangism|Symphalagism of the little finger
OBO:HP_0004219	Abnormality of the middle phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4025406		http://purl.obolibrary.org/obo/HP_0004219		Abnormality of the middle bone of little finger|Abnormality of the middle bone of pinkie finger|Abnormality of the middle bone of pinky finger
OBO:HP_0004220	Short middle phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C1834060	Hypoplastic/small middle phalanx of the fifth finger.	http://purl.obolibrary.org/obo/HP_0004220		Short middle bone of the little finger|Short middle bone of the pinkie finger|Short middle bone of the pinky finger|5th finger middle phalangeal hypoplasia|Brachymesophalangism V|Fifth finger mid-phalanx hypoplasia|Hypoplastic fifth finger middle phalanx|Hypoplastic middle phalanx of the 5th finger|Hypoplastic/small middle phalanx of the 5th finger|Hypoplastic/small middle phalanx of the little finger|Short middle phalanx of the little finger|Type A3 brachydactyly
OBO:HP_0004222	Cone-shaped epiphysis of the distal phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4021675	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.	http://purl.obolibrary.org/obo/HP_0004222		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
OBO:HP_0004223	Ivory epiphysis of the distal phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4021674	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.	http://purl.obolibrary.org/obo/HP_0004223		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
OBO:HP_0004224	Abnormality of the epiphysis of the middle phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4025405	Abnormality of the epiphysis of the middle phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx.	http://purl.obolibrary.org/obo/HP_0004224		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
OBO:HP_0004225	Abnormality of the distal phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4021673	Abnormality of the distal phalanx of the 5th (little) finger.	http://purl.obolibrary.org/obo/HP_0004225		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
OBO:HP_0004226	Curved distal phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4021672	Curved appearance of the distal phalanx of the 5th (little) finger.	http://purl.obolibrary.org/obo/HP_0004226		Curved outermost little finger bone|Curved outermost pinkie finger bone|Curved outermost pinky finger bone|Curved terminal phalanx of the little finger
OBO:HP_0004227	Short distal phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C1836674	Hypoplastic/small distal phalanx of the fifth finger.	http://purl.obolibrary.org/obo/HP_0004227		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
OBO:HP_0004230	Subluxation of the proximal interphalangeal joint of the little finger	biolink:OntologyClass	hp	UMLS:C4025404	A partial dislocation of the proximal interphalangeal joint of the little finger.	http://purl.obolibrary.org/obo/HP_0004230		Partially dislocated innermost hinge joint of little finger|Partially dislocated innermost hinge joint of pinkie finger|Partially dislocated innermost hinge joint of pinky finger
OBO:HP_0004231	Carpal bone aplasia	biolink:OntologyClass	hp	UMLS:C1836219|UMLS:C4280537	Congenital absence of a carpal bone.	http://purl.obolibrary.org/obo/HP_0004231		Absent wrist bone|Missing wrist bone|Absent carpal bone|Absent carpal bones|Absent carpal ossification center|Aplastic carpal bone
OBO:HP_0004232	Accessory carpal bones	biolink:OntologyClass	hp	SNOMEDCT_US:20136007|SNOMEDCT_US:9181003|UMLS:C0265609	The presence of more than the normal number of carpal bones.	http://purl.obolibrary.org/obo/HP_0004232		Extra wrist bones|Supernumerary carpal bones
OBO:HP_0004233	Advanced ossification of carpal bones	biolink:OntologyClass	hp	UMLS:C1849292|UMLS:C4280536	Ossification of carpal bones at an abnormally early age.	http://purl.obolibrary.org/obo/HP_0004233		Accelerated wrist bone maturation|Accelerated carpal bone maturation|Advanced carpal bone age|Advanced carpal ossification|Precociously ossified carpal bones
OBO:HP_0004234	Bone-in-a-bone appearance of carpal bones	biolink:OntologyClass	hp	UMLS:C4025403	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.	http://purl.obolibrary.org/obo/HP_0004234		Bone-in-a-bone appearance of wrist bones
OBO:HP_0004235	Comma-shaped carpal bones	biolink:OntologyClass	hp	UMLS:C4025402		http://purl.obolibrary.org/obo/HP_0004235		Comma-shaped wrist bones
OBO:HP_0004236	Irregular carpal bones	biolink:OntologyClass	hp	UMLS:C4025401	Carpal bones with irregular or fragmented margins.	http://purl.obolibrary.org/obo/HP_0004236		Irregular wrist bones
OBO:HP_0004237	Large carpal bones	biolink:OntologyClass	hp	UMLS:C4021671	Increased size of carpal bones.	http://purl.obolibrary.org/obo/HP_0004237	hposlim_core	Large wrist bones|Large carpals
OBO:HP_0004238	Lytic defects of carpal bones	biolink:OntologyClass	hp	UMLS:C4025400		http://purl.obolibrary.org/obo/HP_0004238		
OBO:HP_0004239	Proximally placed carpal bones	biolink:OntologyClass	hp	UMLS:C4025399		http://purl.obolibrary.org/obo/HP_0004239		
OBO:HP_0004240	Sclerotic foci within carpal bones	biolink:OntologyClass	hp	UMLS:C4025398|UMLS:C4280535		http://purl.obolibrary.org/obo/HP_0004240		Hardened spots within wrist bones|Stiffened spots within wrist bones
OBO:HP_0004241	Stippled calcification in carpal bones	biolink:OntologyClass	hp	UMLS:C1844846	Point-shaped (punctate) calcifications affecting the carpal bones.	http://purl.obolibrary.org/obo/HP_0004241		Punctate calcifications of carpals
OBO:HP_0004242	Broad carpal bones	biolink:OntologyClass	hp	UMLS:C3554618		http://purl.obolibrary.org/obo/HP_0004242		Wide wrist bones|Wide carpal bones
OBO:HP_0004243	Abnormality of the scaphoid	biolink:OntologyClass	hp	UMLS:C4025397		http://purl.obolibrary.org/obo/HP_0004243		
OBO:HP_0004244	Accessory scaphoid	biolink:OntologyClass	hp	UMLS:C4025396		http://purl.obolibrary.org/obo/HP_0004244		
OBO:HP_0004245	Comma-shaped scaphoid	biolink:OntologyClass	hp	UMLS:C4025395		http://purl.obolibrary.org/obo/HP_0004245		
OBO:HP_0004246	Delayed ossification of the scaphoid	biolink:OntologyClass	hp	UMLS:C4021670	Formation of bone tissue of scaphoid is less than expected for age.	http://purl.obolibrary.org/obo/HP_0004246		Delayed maturation of the scaphoid
OBO:HP_0004247	Small scaphoid	biolink:OntologyClass	hp	UMLS:C4025394	Underdevelopment of the scaphoid.	http://purl.obolibrary.org/obo/HP_0004247		
OBO:HP_0004248	Abnormality of the lunate bone	biolink:OntologyClass	hp	UMLS:C4025393		http://purl.obolibrary.org/obo/HP_0004248		
OBO:HP_0004249	Accessory lunate	biolink:OntologyClass	hp	UMLS:C4025392		http://purl.obolibrary.org/obo/HP_0004249		
OBO:HP_0004250	Proximally placed lunate	biolink:OntologyClass	hp	UMLS:C4025391		http://purl.obolibrary.org/obo/HP_0004250		
OBO:HP_0004251	Lunate-triquetral fusion	biolink:OntologyClass	hp	UMLS:C1867930	Osseous fusion of the lunate and triquetrum.	http://purl.obolibrary.org/obo/HP_0004251		Lunotriquetral synostosis
OBO:HP_0004252	Abnormality of the trapezium	biolink:OntologyClass	hp	UMLS:C4025390	An anomaly of trapezium.	http://purl.obolibrary.org/obo/HP_0004252		
OBO:HP_0004253	Absent trapezium	biolink:OntologyClass	hp	UMLS:C1847190		http://purl.obolibrary.org/obo/HP_0004253		Absent trapezium bone
OBO:HP_0004254	Delayed ossification of the trapezium	biolink:OntologyClass	hp	UMLS:C4021669	Formation of bone tissue of trapezium is less than expected for age.	http://purl.obolibrary.org/obo/HP_0004254		Delayed maturation of the trapezium
OBO:HP_0004255	Small trapezium	biolink:OntologyClass	hp	UMLS:C4025389	Underdevelopment of the trapezium.	http://purl.obolibrary.org/obo/HP_0004255		
OBO:HP_0004256	Abnormality of the trapezoid bone	biolink:OntologyClass	hp	UMLS:C4025388		http://purl.obolibrary.org/obo/HP_0004256		
OBO:HP_0004257	Delayed ossification of the trapezoid bone	biolink:OntologyClass	hp	UMLS:C4021668	Formation of bone tissue of trapezoid is less than expected for age.	http://purl.obolibrary.org/obo/HP_0004257		Delayed maturation of the trapezoid bone
OBO:HP_0004258	Small trapezoid bone	biolink:OntologyClass	hp	UMLS:C4025387	Underdevelopment of the trapezoid.	http://purl.obolibrary.org/obo/HP_0004258		
OBO:HP_0004259	Abnormality of the hamate bone	biolink:OntologyClass	hp	UMLS:C4025386		http://purl.obolibrary.org/obo/HP_0004259		
OBO:HP_0004260	Large hamate bone	biolink:OntologyClass	hp	UMLS:C4025385		http://purl.obolibrary.org/obo/HP_0004260		Large unciform bone
OBO:HP_0004261	Wide hamate bone	biolink:OntologyClass	hp	UMLS:C4021667		http://purl.obolibrary.org/obo/HP_0004261		Broad hamate bone|Wide unciform bone
OBO:HP_0004262	Abnormality of the capitate bone	biolink:OntologyClass	hp	UMLS:C4025384		http://purl.obolibrary.org/obo/HP_0004262		
OBO:HP_0004263	Large capitate bone	biolink:OntologyClass	hp	UMLS:C4025383		http://purl.obolibrary.org/obo/HP_0004263		
OBO:HP_0004264	Narrow carpal joint spaces	biolink:OntologyClass	hp	UMLS:C4021666		http://purl.obolibrary.org/obo/HP_0004264		Decreased carpal joint angles
OBO:HP_0004267	Narrow small joints of the hand	biolink:OntologyClass	hp	UMLS:C4025382		http://purl.obolibrary.org/obo/HP_0004267		Narrow small joints of the hand
OBO:HP_0004268	Osteoarthritis of the small joints of the hand	biolink:OntologyClass	hp	UMLS:C4025381		http://purl.obolibrary.org/obo/HP_0004268		
OBO:HP_0004269	Subluxation of the small joints of the hand	biolink:OntologyClass	hp	UMLS:C4025380	A partial dislocation of some or all of the small joints of the hand.	http://purl.obolibrary.org/obo/HP_0004269		Partial dislocation of small joints of hand
OBO:HP_0004271	Cortical thickening of hand bones	biolink:OntologyClass	hp	UMLS:C4025379		http://purl.obolibrary.org/obo/HP_0004271		
OBO:HP_0004272	Cortical thinning of hand bones	biolink:OntologyClass	hp	UMLS:C4025378		http://purl.obolibrary.org/obo/HP_0004272		
OBO:HP_0004273	Cupped metaphyses of hand bones	biolink:OntologyClass	hp	UMLS:C4025377		http://purl.obolibrary.org/obo/HP_0004273		Cupped wide portion of hand bones|Cupped metaphysis of hand bones
OBO:HP_0004274	Deficient ossification of hand bones	biolink:OntologyClass	hp	UMLS:C4025376|UMLS:C4280534		http://purl.obolibrary.org/obo/HP_0004274		Deficient maturation of hand bones
OBO:HP_0004275	Duplication of hand bones	biolink:OntologyClass	hp	UMLS:C3276746		http://purl.obolibrary.org/obo/HP_0004275		Duplication of hand bones
OBO:HP_0004276	Exostoses of hand bones	biolink:OntologyClass	hp	UMLS:C4025375	Abnormal formation of new bone on the surface of a bone of the hand.	http://purl.obolibrary.org/obo/HP_0004276		
OBO:HP_0004277	Fractured hand bones	biolink:OntologyClass	hp	SNOMEDCT_US:20511007|UMLS:C0435632		http://purl.obolibrary.org/obo/HP_0004277		Broken hand bones|Fractured hand bones
OBO:HP_0004278	Synostosis involving bones of the hand	biolink:OntologyClass	hp	UMLS:C4020831	An abnormal union between bones or parts of bones of the hand.	http://purl.obolibrary.org/obo/HP_0004278		Fused hand bones
OBO:HP_0004279	Short palm	biolink:OntologyClass	hp	UMLS:C1843108	Short palm.	http://purl.obolibrary.org/obo/HP_0004279		Short palm|Short hands|Short palms|Hypoplastic hands
OBO:HP_0004280	Irregular ossification of hand bones	biolink:OntologyClass	hp	UMLS:C4025374		http://purl.obolibrary.org/obo/HP_0004280		Irregular maturation of hand bones
OBO:HP_0004281	Irregular sclerosis of hand bones	biolink:OntologyClass	hp	UMLS:C4025373		http://purl.obolibrary.org/obo/HP_0004281		
OBO:HP_0004283	Narrow palm	biolink:OntologyClass	hp	UMLS:C1857632	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.	http://purl.obolibrary.org/obo/HP_0004283		Narrow palm|Narrow hand|Narrow hands
OBO:HP_0004284	Notched hand bones	biolink:OntologyClass	hp	UMLS:C4025372		http://purl.obolibrary.org/obo/HP_0004284		Notched hand bones
OBO:HP_0004285	Overmodelled hand bones	biolink:OntologyClass	hp	UMLS:C4025371		http://purl.obolibrary.org/obo/HP_0004285		
OBO:HP_0004286	Patchy sclerosis of hand bones	biolink:OntologyClass	hp	UMLS:C4025370		http://purl.obolibrary.org/obo/HP_0004286		Uneven increase in bone density in hand bones
OBO:HP_0004287	Pointed hand bones	biolink:OntologyClass	hp	UMLS:C4025369		http://purl.obolibrary.org/obo/HP_0004287		Pointed hand bones
OBO:HP_0004288	Pseudoepiphyses of hand bones	biolink:OntologyClass	hp	UMLS:C4025368		http://purl.obolibrary.org/obo/HP_0004288		
OBO:HP_0004289	Sclerotic foci in hand bones	biolink:OntologyClass	hp	UMLS:C4025367		http://purl.obolibrary.org/obo/HP_0004289		
OBO:HP_0004290	Sclerosis of hand bones with transverse striations	biolink:OntologyClass	hp	UMLS:C4025366		http://purl.obolibrary.org/obo/HP_0004290		
OBO:HP_0004291	Stippled calcification of hand bones	biolink:OntologyClass	hp	UMLS:C4025365		http://purl.obolibrary.org/obo/HP_0004291		
OBO:HP_0004292	Undermodelled hand bones	biolink:OntologyClass	hp	UMLS:C4025364		http://purl.obolibrary.org/obo/HP_0004292		
OBO:HP_0004293	Synostosis of second metacarpal-trapezoid	biolink:OntologyClass	hp	UMLS:C4021665	Fusion of the second metacarpal-trapezoid.	http://purl.obolibrary.org/obo/HP_0004293		Fusion of second metacarpal-trapezoid
OBO:HP_0004294	Subluxation of metacarpal phalangeal joints	biolink:OntologyClass	hp	UMLS:C4025363	A partial dislocation affecting some or all of the metacarpophalangeal joints.	http://purl.obolibrary.org/obo/HP_0004294		Partial knuckle dislocation|Subluxation of metacarpophalangeal joints
OBO:HP_0004295	Abnormality of the gastric mucosa	biolink:OntologyClass	hp	UMLS:C4025362	An abnormality of the gastric mucous membrane.	http://purl.obolibrary.org/obo/HP_0004295		Abnormality of the mucous membrane layer of stomach
OBO:HP_0004296	Abnormality of gastrointestinal vasculature	biolink:OntologyClass	hp	UMLS:C4025361		http://purl.obolibrary.org/obo/HP_0004296		Abnormality of GI vasculature|Abnormality of GI blood vessels
OBO:HP_0004297	Abnormality of the biliary system	biolink:OntologyClass	hp	UMLS:C0940767	An abnormality of the biliary system.	http://purl.obolibrary.org/obo/HP_0004297		
OBO:HP_0004298	Abnormality of the abdominal wall	biolink:OntologyClass	hp	UMLS:C4021664	The presence of any abnormality affecting the abdominal wall.	http://purl.obolibrary.org/obo/HP_0004298	hposlim_core	Abnormality of the abdominal wall|Abnormality of external features of the abdomen
OBO:HP_0004299	Hernia of the abdominal wall	biolink:OntologyClass	hp	Fyler:4414|SNOMEDCT_US:128545000|UMLS:C1442978	The presence of a hernia in the abdominal wall.	http://purl.obolibrary.org/obo/HP_0004299	hposlim_core	Herniated abdominal wall
OBO:HP_0004302	Functional motor deficit	biolink:OntologyClass	hp	UMLS:C4025360		http://purl.obolibrary.org/obo/HP_0004302		Functional motor problems
OBO:HP_0004303	Abnormal muscle fiber morphology	biolink:OntologyClass	hp	UMLS:C4021663	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.	http://purl.obolibrary.org/obo/HP_0004303		Abnormal muscle fibre morphology|Abnormal skeletal muscle fiber morphology|Abnormality of muscle fibers
OBO:HP_0004305	Involuntary movements	biolink:OntologyClass	hp	SNOMEDCT_US:102542000|UMLS:C0235086	Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face.	http://purl.obolibrary.org/obo/HP_0004305		Involuntary movements|Involuntary muscle contractions
OBO:HP_0004306	Abnormal endocardium morphology	biolink:OntologyClass	hp	UMLS:C4021662	An abnormality of the endocardium.	http://purl.obolibrary.org/obo/HP_0004306		Abnormality of the endocardium|Abnormality of the endomycoardium
OBO:HP_0004307	Abnormal anatomic location of the heart	biolink:OntologyClass	hp	UMLS:C4025359	Thickening of the left ventricle wall with congenital onset.	http://purl.obolibrary.org/obo/HP_0004307		
OBO:HP_0004308	Ventricular arrhythmia	biolink:OntologyClass	hp	SNOMEDCT_US:44103008|UMLS:C0085612		http://purl.obolibrary.org/obo/HP_0004308		Ventricular arrhythmias
OBO:HP_0004309	Ventricular preexcitation	biolink:OntologyClass	hp	SNOMEDCT_US:195060002|UMLS:C0559106	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.	http://purl.obolibrary.org/obo/HP_0004309		Pre-excitation syndrome|Preexcitation|Ventricular pre-excitation
OBO:HP_0004311	Abnormal macrophage morphology	biolink:OntologyClass	hp	UMLS:C4021661	An abnormality of macrophages.	http://purl.obolibrary.org/obo/HP_0004311		Abnormality of histiocytes|Abnormality of macrophages
OBO:HP_0004312	Abnormal reticulocyte morphology	biolink:OntologyClass	hp	UMLS:C4025358	A reticulocyte abnormality.	http://purl.obolibrary.org/obo/HP_0004312		Abnormality of reticulocytes
OBO:HP_0004313	Decreased circulating antibody level	biolink:OntologyClass	hp	MSH:D000361|SNOMEDCT_US:119250001|UMLS:C0086438|UMLS:C4048270	An abnormally decreased level of immunoglobulin in blood.	http://purl.obolibrary.org/obo/HP_0004313		Decreased antibody level in blood|Decreased immunoglobulin level|Decreased serum immunoglobulin|Hypogammaglobulinemia|Immunoglobulin deficiency|Reduced immunoglobulin levels
OBO:HP_0004315	Decreased circulating IgG level	biolink:OntologyClass	hp	MSH:D017099|SNOMEDCT_US:123785006|SNOMEDCT_US:190981001|UMLS:C0162539	An abnormally decreased level of immunoglobulin G (IgG) in blood.	http://purl.obolibrary.org/obo/HP_0004315		Decreased IgG level|Decreased IgG level in blood|Decreased gamma-globin expression|Decreased immunoglobulin G|Decreased serum IgG|IgG deficiency|Reduced IgG levels
OBO:HP_0004319	Decreased circulating aldosterone level	biolink:OntologyClass	hp	MSH:D006994|SNOMEDCT_US:60086000|UMLS:C0020595|UMLS:C0857899|UMLS:C1846226	Abnormally reduced levels of aldosterone.	http://purl.obolibrary.org/obo/HP_0004319		Low blood aldosterone level|Decreased aldosterone|Decreased aldosterone production|Decreased serum aldosterone|Hypoaldosteronism|Mineralocorticoid insufficiency
OBO:HP_0004320	Vaginal fistula	biolink:OntologyClass	hp	MSH:D014624|SNOMEDCT_US:45135002|UMLS:C0042253	The presence of a fistula of the vagina.	http://purl.obolibrary.org/obo/HP_0004320		
OBO:HP_0004321	Bladder fistula	biolink:OntologyClass	hp	MSH:D001747|SNOMEDCT_US:68666001|UMLS:C0005690	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.	http://purl.obolibrary.org/obo/HP_0004321		
OBO:HP_0004322	Short stature	biolink:OntologyClass	hp	SNOMEDCT_US:237836003|UMLS:C0349588	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).	http://purl.obolibrary.org/obo/HP_0004322		Decreased body height|Short stature|Small stature|Height less than 3rd percentile|Stature below 3rd percentile
OBO:HP_0004323	Abnormality of body weight	biolink:OntologyClass	hp	UMLS:C0878621|UMLS:C4025357	An abnormal increase or decrease of weight or an abnormal distribution of mass in the body.	http://purl.obolibrary.org/obo/HP_0004323		Abnormality of body weight|Abnormality of habitus
OBO:HP_0004324	Increased body weight	biolink:OntologyClass	hp	MSH:D015430|SNOMEDCT_US:161831008|SNOMEDCT_US:262286000|SNOMEDCT_US:8943002|UMLS:C0043094	Abnormally increased body weight.	http://purl.obolibrary.org/obo/HP_0004324		Increased body weight|Weight gain
OBO:HP_0004325	Decreased body weight	biolink:OntologyClass	hp	MSH:D013851|MSH:D015431|SNOMEDCT_US:161832001|SNOMEDCT_US:248342006|SNOMEDCT_US:262285001|SNOMEDCT_US:89362005|UMLS:C0041667|UMLS:C1262477|UMLS:C1844806	Abnormally low body weight.	http://purl.obolibrary.org/obo/HP_0004325		Decreased body weight|Decreased weight|Low body weight|Low weight|Weight less than 3rd percentile
OBO:HP_0004326	Cachexia	biolink:OntologyClass	hp	MSH:D002100|SNOMEDCT_US:238108007|SNOMEDCT_US:285384003|UMLS:C0006625	Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.	http://purl.obolibrary.org/obo/HP_0004326		Wasting syndrome
OBO:HP_0004327	Abnormal vitreous humor morphology	biolink:OntologyClass	hp	UMLS:C4025356	Any structural anomaly of the vitreous body.	http://purl.obolibrary.org/obo/HP_0004327	hposlim_core	Abnormal vitreous humour morphology
OBO:HP_0004328	Abnormal anterior eye segment morphology	biolink:OntologyClass	hp	UMLS:C4025355	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).	http://purl.obolibrary.org/obo/HP_0004328		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
OBO:HP_0004329	Abnormal posterior eye segment morphology	biolink:OntologyClass	hp	UMLS:C4025354		http://purl.obolibrary.org/obo/HP_0004329		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
OBO:HP_0004330	Increased skull ossification	biolink:OntologyClass	hp	SNOMEDCT_US:17401000119104|UMLS:C0020496|UMLS:C4072850|UMLS:C4072851	An increase in the magnitude or amount of ossification of the skull.	http://purl.obolibrary.org/obo/HP_0004330	hposlim_core	Increased Mineralization of skull|Increased calcification of skull|Hyperossification of skull|Hyperostosis of skull|Sclerosis of bones of skull|Sclerosis of skull
OBO:HP_0004331	Decreased skull ossification	biolink:OntologyClass	hp	SNOMEDCT_US:253980008|UMLS:C0432073|UMLS:C4280533	A reduction in the magnitude or amount of ossification of the skull.	http://purl.obolibrary.org/obo/HP_0004331	hposlim_core	Decreased bone formation of skull|Decreased calcification of skull|Decreased mineralization of skull|Deficient skull ossification|Hypoossification of skull|Ossification defect of skull|Poorly mineralized skull|Poorly ossified skull|Poorly ossified skull bones
OBO:HP_0004332	Abnormal lymphocyte morphology	biolink:OntologyClass	hp	SNOMEDCT_US:250284007|UMLS:C0427546	An abnormality of lymphocytes.	http://purl.obolibrary.org/obo/HP_0004332		Abnormal lymphocytes|Abnormality of cells of the lymphoid lineage
OBO:HP_0004333	Bone-marrow foam cells	biolink:OntologyClass	hp	UMLS:C1856560	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.	http://purl.obolibrary.org/obo/HP_0004333		Bone marrow foam cells|Large vacuolated foam cells ('NP cells') on bone marrow biopsy|Large vacuolated foam cells on bone marrow biopsy
OBO:HP_0004334	Dermal atrophy	biolink:OntologyClass	hp	MEDDRA:10040799|SNOMEDCT_US:399979006|SNOMEDCT_US:400190005|UMLS:C0151514	Partial or complete wasting (atrophy) of the skin.	http://purl.obolibrary.org/obo/HP_0004334	hposlim_core	Skin degeneration|Atrophic skin|Skin atrophy
OBO:HP_0004336	Myelin outfoldings	biolink:OntologyClass	hp	UMLS:C1843168	The presence of excessive redundant myelin in the peripheral nerve sheath.	http://purl.obolibrary.org/obo/HP_0004336		Excessive focal folding of myelin sheaths|Irregular myelin foldings
OBO:HP_0004337	Abnormality of amino acid metabolism	biolink:OntologyClass	hp	UMLS:C1328440	Abnormality of an amino acid metabolic process.	http://purl.obolibrary.org/obo/HP_0004337		Amino acid levels abnormal
OBO:HP_0004338	Abnormal circulating aromatic amino acid concentration	biolink:OntologyClass	hp	UMLS:C4025352	Any deviation from the normal concentration of a aromatic amino acid in the blood circulation.	http://purl.obolibrary.org/obo/HP_0004338		Abnormality of aromatic amino acid family metabolism
OBO:HP_0004339	Abnormal circulating sulfur amino acid concentration	biolink:OntologyClass	hp	UMLS:C4021660	Any deviation from the normal concentration of a sulfur amino acid in the blood circulation.	http://purl.obolibrary.org/obo/HP_0004339		Abnormal circulating sulphur amino acid concentration|Abnormality of sulfur-containing amino acids
OBO:HP_0004340	Abnormality of vitamin B metabolism	biolink:OntologyClass	hp	UMLS:C4021659		http://purl.obolibrary.org/obo/HP_0004340		Abnormality of B-vitamin metabolism
OBO:HP_0004341	Abnormality of vitamin B12 metabolism	biolink:OntologyClass	hp	UMLS:C4021658		http://purl.obolibrary.org/obo/HP_0004341		Abnormality of the vitamin B12 metabolism
OBO:HP_0004342	Abnormality of galactoside metabolism	biolink:OntologyClass	hp	UMLS:C4025351	Abnormality of galactoside metabolism. A galactoside is a glycoside (a suger moiety bound to some other moiety) containing galactose.	http://purl.obolibrary.org/obo/HP_0004342		
OBO:HP_0004343	Abnormal glycosphingolipid metabolism	biolink:OntologyClass	hp	UMLS:C4025350	An abnormality of glycosphingolipid metabolism.	http://purl.obolibrary.org/obo/HP_0004343		Abnormality of glycosphingolipid metabolism
OBO:HP_0004344	Abnormality of cerebrosidase metabolism	biolink:OntologyClass	hp	UMLS:C4025349		http://purl.obolibrary.org/obo/HP_0004344		
OBO:HP_0004345	Ganglioside accumulation	biolink:OntologyClass	hp	UMLS:C4025348	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).	http://purl.obolibrary.org/obo/HP_0004345		
OBO:HP_0004347	Weakness of muscles of respiration	biolink:OntologyClass	hp	UMLS:C4025347	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.	http://purl.obolibrary.org/obo/HP_0004347		
OBO:HP_0004348	Abnormality of bone mineral density	biolink:OntologyClass	hp	UMLS:C4021657	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.	http://purl.obolibrary.org/obo/HP_0004348		Abnormality of bone mineralisation and ossification
OBO:HP_0004349	Reduced bone mineral density	biolink:OntologyClass	hp	UMLS:C2674432	A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.	http://purl.obolibrary.org/obo/HP_0004349		Low solidness and mass of the bones|Decreased bone mineral density|Decreased bone mineral density Z score
OBO:HP_0004352	Abnormal circulating purine concentration	biolink:OntologyClass	hp	UMLS:C4025346	Any deviation from the normal concentration of a purine in the blood circulation.	http://purl.obolibrary.org/obo/HP_0004352		Abnormal circulating purine level
OBO:HP_0004353	Abnormal circulating pyrimidine concentration	biolink:OntologyClass	hp	UMLS:C4025345	Any deviation from the normal concentration of a pyrimidine in the blood circulation.	http://purl.obolibrary.org/obo/HP_0004353		
OBO:HP_0004354	Abnormal circulating carboxylic acid concentration	biolink:OntologyClass	hp	UMLS:C4025344	Any deviation from the normal concentration of a carboxylic acid in the blood circulation.	http://purl.obolibrary.org/obo/HP_0004354		
OBO:HP_0004355	obsolete Abnormality of proteoglycan metabolism	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0004355		
OBO:HP_0004356	Abnormality of lysosomal metabolism	biolink:OntologyClass	hp	UMLS:C4025342		http://purl.obolibrary.org/obo/HP_0004356		
OBO:HP_0004357	Abnormal circulating leucine concentration	biolink:OntologyClass	hp	UMLS:C4025341	Any deviation from the normal circulation of leucine in the blood circulation.	http://purl.obolibrary.org/obo/HP_0004357		
OBO:HP_0004358	Abnormality of superoxide metabolism	biolink:OntologyClass	hp	UMLS:C4025340		http://purl.obolibrary.org/obo/HP_0004358		
OBO:HP_0004359	Abnormal circulating fatty-acid concentration	biolink:OntologyClass	hp	UMLS:C4020830|UMLS:C4021656	A deviation from the normal concentration of a fatty acid in the blood circulation.	http://purl.obolibrary.org/obo/HP_0004359		Abnormality of fatty acid metabolism|Fatty acids abnormal
OBO:HP_0004360	Abnormality of acid-base homeostasis	biolink:OntologyClass	hp	MSH:D000137|UMLS:C0001118	An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH.	http://purl.obolibrary.org/obo/HP_0004360		Acid base imbalance
OBO:HP_0004361	Abnormality of circulating leptin level	biolink:OntologyClass	hp	UMLS:C4025339	An abnormal concentration of leptin in the blood.	http://purl.obolibrary.org/obo/HP_0004361		
OBO:HP_0004362	Abnormality of enteric ganglion morphology	biolink:OntologyClass	hp	UMLS:C4025338	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.	http://purl.obolibrary.org/obo/HP_0004362		Abnormality of the enteric ganglia
OBO:HP_0004363	Abnormal circulating calcium concentration	biolink:OntologyClass	hp		Any deviation from the normal concentration of calcium in the blood circulation.	http://purl.obolibrary.org/obo/HP_0004363		Abnormal circulating Ca concentration|Abnormal circulating Ca2+ concentration|Abnormal blood calcium levels|Abnormal blood calcium concentration
OBO:HP_0004364	Abnormal circulating nitrogen compound concentration	biolink:OntologyClass	hp	UMLS:C4025336	Any deviation from the normal concentration of a nitrogen compound in the blood circulation.	http://purl.obolibrary.org/obo/HP_0004364		
OBO:HP_0004365	Abnormal circulating tryptophan concentration	biolink:OntologyClass	hp	UMLS:C4025335	Any deviation from the normal concentration of tryptophan in the blood circulation.	http://purl.obolibrary.org/obo/HP_0004365		Abnormality of tryptophan metabolism
OBO:HP_0004366	Abnormality of glycolysis	biolink:OntologyClass	hp	UMLS:C4025334	An abnormality of glycolysis.	http://purl.obolibrary.org/obo/HP_0004366		
OBO:HP_0004367	obsolete Abnormality of glycoprotein metabolism	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0004367		
OBO:HP_0004368	Increased circulating purine concentration	biolink:OntologyClass	hp	UMLS:C4025332	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.	http://purl.obolibrary.org/obo/HP_0004368		Increased purine levels|Increased purine level
OBO:HP_0004369	Decreased circulating purine concentration	biolink:OntologyClass	hp	UMLS:C4025331	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.	http://purl.obolibrary.org/obo/HP_0004369		Decreased purine levels|Decreased purine level
OBO:HP_0004370	Abnormality of temperature regulation	biolink:OntologyClass	hp	MSH:D001832|UMLS:C0005904|UMLS:C1832160	An abnormality of temperature homeostasis.	http://purl.obolibrary.org/obo/HP_0004370		Abnormality of temperature regulation|Poor temperature regulation|Body temperature changes
OBO:HP_0004371	Abnormality of glycosaminoglycan metabolism	biolink:OntologyClass	hp	UMLS:C4025330	Abnormality of glycosaminoglycan metabolism.	http://purl.obolibrary.org/obo/HP_0004371		
OBO:HP_0004372	Reduced consciousness/confusion	biolink:OntologyClass	hp	SNOMEDCT_US:3006004|UMLS:C0234428		http://purl.obolibrary.org/obo/HP_0004372		Disturbances of consciousness|Lowered consciousness|Reduced consciousness/confusion
OBO:HP_0004373	Focal dystonia	biolink:OntologyClass	hp	MSH:D020821|SNOMEDCT_US:445006008|UMLS:C0743332	A type of dystonia that is localized to a specific part of the body.	http://purl.obolibrary.org/obo/HP_0004373		
OBO:HP_0004374	Hemiplegia/hemiparesis	biolink:OntologyClass	hp	UMLS:C0375206	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.	http://purl.obolibrary.org/obo/HP_0004374		Paralysis or weakness of one side of body
OBO:HP_0004375	Neoplasm of the nervous system	biolink:OntologyClass	hp	MSH:D009423|NCIT:C3262|SNOMEDCT_US:126950007|UMLS:C0027766	A tumor (abnormal growth of tissue) of the nervous system.	http://purl.obolibrary.org/obo/HP_0004375		Tumor of the nervous system|Nervous system cancer|Neoplasia of the nervous system
OBO:HP_0004376	Neuroblastic tumor	biolink:OntologyClass	hp	UMLS:C1334953	A family of tumours arising in the embryonal remnants of the sympathetic nervous system, which includes neuroblastoma, ganglioneuroblastoma, and ganglioneuroma.	http://purl.obolibrary.org/obo/HP_0004376		Neuroblastic tumour
OBO:HP_0004377	Hematological neoplasm	biolink:OntologyClass	hp	MSH:D019337|SNOMEDCT_US:129154003|SNOMEDCT_US:269475001|UMLS:C0376545	Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue).	http://purl.obolibrary.org/obo/HP_0004377		Blood tumor|Haematological neoplasm
OBO:HP_0004378	Abnormality of the anus	biolink:OntologyClass	hp	UMLS:C4025329	Abnormality of the anal canal.	http://purl.obolibrary.org/obo/HP_0004378		Abnormality of the anus
OBO:HP_0004379	Abnormality of alkaline phosphatase level	biolink:OntologyClass	hp	UMLS:C4020829|UMLS:C4025328	An abnormality of alkaline phosphatase level.	http://purl.obolibrary.org/obo/HP_0004379		Abnormality of ALP level|Abnormality of alkaline phosphatase activity|Alkaline phosphatase abnormal
OBO:HP_0004380	Aortic valve calcification	biolink:OntologyClass	hp	MSH:C562942|SNOMEDCT_US:250978003|UMLS:C0428791	Deposition of calcium salts in the aortic valve.	http://purl.obolibrary.org/obo/HP_0004380		
OBO:HP_0004381	Supravalvular aortic stenosis	biolink:OntologyClass	hp	Fyler:1430|MSH:D021921|SNOMEDCT_US:268185002|UMLS:C0003499	A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow.	http://purl.obolibrary.org/obo/HP_0004381		
OBO:HP_0004382	Mitral valve calcification	biolink:OntologyClass	hp	SNOMEDCT_US:473372009|UMLS:C0919718	Abnormal calcification of the mitral valve.	http://purl.obolibrary.org/obo/HP_0004382		
OBO:HP_0004383	Hypoplastic left heart	biolink:OntologyClass	hp	MSH:D018636|SNOMEDCT_US:62067003|UMLS:C0152101	Underdevelopment of the left side of the heart. May include atresia of the aortic or mitral orifice and hypoplasia of the ascending aorta.	http://purl.obolibrary.org/obo/HP_0004383		Underdeveloped left heart|Heart left ventricle hypoplasia|Left ventricular hypoplasia
OBO:HP_0004384	Type I truncus arteriosus	biolink:OntologyClass	hp	Fyler:0510|Fyler:510|UMLS:C1834934	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.	http://purl.obolibrary.org/obo/HP_0004384		Persistent truncus arteriosus type I|Type 1 truncus arteriosus
OBO:HP_0004385	Protracted diarrhea	biolink:OntologyClass	hp	SNOMEDCT_US:236077008|UMLS:C0473133		http://purl.obolibrary.org/obo/HP_0004385		Protracted diarrhoea
OBO:HP_0004386	Gastrointestinal inflammation	biolink:OntologyClass	hp	UMLS:C1535950	Inflammation of the alimentary part of the gastrointestinal system.	http://purl.obolibrary.org/obo/HP_0004386		GI inflammation|Gastrointestinal inflammation
OBO:HP_0004387	Enterocolitis	biolink:OntologyClass	hp	MSH:D004760|SNOMEDCT_US:43752006|UMLS:C0014356	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).	http://purl.obolibrary.org/obo/HP_0004387		
OBO:HP_0004388	Microcolon	biolink:OntologyClass	hp	MSH:C562563|SNOMEDCT_US:18389004|UMLS:C0266200|UMLS:C3553395	A colon of abnormally small caliber.	http://purl.obolibrary.org/obo/HP_0004388		Microcolon on contrast enema
OBO:HP_0004389	Intestinal pseudo-obstruction	biolink:OntologyClass	hp	MSH:D007418|SNOMEDCT_US:235825006|SNOMEDCT_US:715201005|UMLS:C0021847	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.	http://purl.obolibrary.org/obo/HP_0004389		Intestinal pseudoobstruction
OBO:HP_0004390	Hamartomatous polyposis	biolink:OntologyClass	hp	SNOMEDCT_US:27391005|UMLS:C0334092|UMLS:C3277418	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.	http://purl.obolibrary.org/obo/HP_0004390		Gastrointestinal hamartoma|Hamartomatous polyps|Gastrointestinal hamartomatous polyps
OBO:HP_0004392	Prune belly	biolink:OntologyClass	hp	MSH:D011535|SNOMEDCT_US:5187006|UMLS:C0033770	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.	http://purl.obolibrary.org/obo/HP_0004392		Prune belly
OBO:HP_0004394	Multiple gastric polyps	biolink:OntologyClass	hp	MSH:C562464|SNOMEDCT_US:78809005|SNOMEDCT_US:87252009|UMLS:C0236048		http://purl.obolibrary.org/obo/HP_0004394		
OBO:HP_0004395	Malnutrition	biolink:OntologyClass	hp	MSH:D044342|SNOMEDCT_US:248325000|SNOMEDCT_US:2492009|SNOMEDCT_US:47563007|SNOMEDCT_US:65404009|SNOMEDCT_US:70241007|UMLS:C0162429		http://purl.obolibrary.org/obo/HP_0004395		Malnutrition
OBO:HP_0004396	Poor appetite	biolink:OntologyClass	hp	SNOMEDCT_US:64379006|UMLS:C0232462		http://purl.obolibrary.org/obo/HP_0004396		Decreased appetite|Poor appetite|No appetite
OBO:HP_0004397	Ectopic anus	biolink:OntologyClass	hp	SNOMEDCT_US:5153001|UMLS:C0266231	Abnormal displacement or malposition of the anus.	http://purl.obolibrary.org/obo/HP_0004397	hposlim_core	Abnormal anus position|Anus malposition
OBO:HP_0004398	Peptic ulcer	biolink:OntologyClass	hp	MSH:D010437|SNOMEDCT_US:13200003|UMLS:C0030920	An ulcer of the gastrointestinal tract.	http://purl.obolibrary.org/obo/HP_0004398		Sore in the lining of gastrointestinal tract
OBO:HP_0004399	Congenital pyloric atresia	biolink:OntologyClass	hp	UMLS:C4025327	Congenital atresia of the pylorus.	http://purl.obolibrary.org/obo/HP_0004399	hposlim_core	
OBO:HP_0004400	Abnormality of the pylorus	biolink:OntologyClass	hp	UMLS:C4025326	An abnormality of the pylorus.	http://purl.obolibrary.org/obo/HP_0004400		
OBO:HP_0004401	Meconium ileus	biolink:OntologyClass	hp	SNOMEDCT_US:206523001|SNOMEDCT_US:233662009|SNOMEDCT_US:86092005|UMLS:C0398349|UMLS:C2939175|UMLS:C3553397	Obstruction of the intestine due to abnormally thick meconium.	http://purl.obolibrary.org/obo/HP_0004401		Meconium ileus in neonates|Distal intestinal obstruction syndrome|Meconium ileus on ultrasonography
OBO:HP_0004403	Proximal esophageal atresia	biolink:OntologyClass	hp	UMLS:C4025325		http://purl.obolibrary.org/obo/HP_0004403		
OBO:HP_0004404	Abnormal nipple morphology	biolink:OntologyClass	hp	SNOMEDCT_US:700153004|UMLS:C3839073	An abnormality of the nipple.	http://purl.obolibrary.org/obo/HP_0004404	hposlim_core	Abnormality of the nipple
OBO:HP_0004405	Prominent nipples	biolink:OntologyClass	hp	UMLS:C1855513		http://purl.obolibrary.org/obo/HP_0004405	hposlim_core	Prominent nipples
OBO:HP_0004406	Spontaneous, recurrent epistaxis	biolink:OntologyClass	hp	UMLS:C3809715		http://purl.obolibrary.org/obo/HP_0004406		Recurring nosebleed|Spontaneous, recurrent nosebleed|Recurrent epistaxes|Recurrent epistaxis
OBO:HP_0004407	Bony paranasal bossing	biolink:OntologyClass	hp	UMLS:C1857499		http://purl.obolibrary.org/obo/HP_0004407		
OBO:HP_0004408	Abnormality of the sense of smell	biolink:OntologyClass	hp	UMLS:C4021655	An anomaly in the ability to perceive and distinguish scents (odors).	http://purl.obolibrary.org/obo/HP_0004408	hposlim_core	Abnormal sense of smell|Abnormality of the sense of smell|Smell defect|Abnormality of olfaction
OBO:HP_0004409	Hyposmia	biolink:OntologyClass	hp	SNOMEDCT_US:83156004|UMLS:C2364082	A decreased sensitivity to odorants (that is, a decreased ability to perceive odors).	http://purl.obolibrary.org/obo/HP_0004409	hposlim_core	Decreased smell sensation|Sense of smell impaired
OBO:HP_0004411	Deviated nasal septum	biolink:OntologyClass	hp	SNOMEDCT_US:126660000|UMLS:C0549397	Positioning of the nasal septum to the right or left in contrast to the normal midline position of the nasal septum.	http://purl.obolibrary.org/obo/HP_0004411	hposlim_core	Crooked nasal septum|Crooked septum of nose|Deviated nasal septum|Deviated septum of nose
OBO:HP_0004414	Abnormality of the pulmonary artery	biolink:OntologyClass	hp	SNOMEDCT_US:128588008|SNOMEDCT_US:198914002|SNOMEDCT_US:36110001|UMLS:C0009681	An abnormality of the pulmonary artery.	http://purl.obolibrary.org/obo/HP_0004414		Abnormality of lung artery
OBO:HP_0004415	Pulmonary artery stenosis	biolink:OntologyClass	hp	Fyler:1622|MSH:D000071079|SNOMEDCT_US:95441000|UMLS:C0238397	An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.	http://purl.obolibrary.org/obo/HP_0004415		Narrowing of lung artery
OBO:HP_0004416	Precocious atherosclerosis	biolink:OntologyClass	hp	UMLS:C4021654|UMLS:C4280264		http://purl.obolibrary.org/obo/HP_0004416		Premature plaque build-up in arteries|Premature atherosclerosis
OBO:HP_0004417	Intermittent claudication	biolink:OntologyClass	hp	MSH:D007383|SNOMEDCT_US:63491006|UMLS:C0021775	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.	http://purl.obolibrary.org/obo/HP_0004417		
OBO:HP_0004418	Thrombophlebitis	biolink:OntologyClass	hp	MSH:D013924|SNOMEDCT_US:64156001|UMLS:C0040046	Inflammation of a vein associated with venous thrombosis (blood clot formation within the vein).	http://purl.obolibrary.org/obo/HP_0004418		
OBO:HP_0004419	Recurrent thrombophlebitis	biolink:OntologyClass	hp	UMLS:C3550150	Repeated episodes of inflammation of a vein associated with venous thrombosis (blood clot formation within the vein).	http://purl.obolibrary.org/obo/HP_0004419		Recurrent phlebitis|Recurrent thrombosis
OBO:HP_0004420	Arterial thrombosis	biolink:OntologyClass	hp	SNOMEDCT_US:65198009|UMLS:C0151942	The formation of a blood clot inside an artery.	http://purl.obolibrary.org/obo/HP_0004420		Blood clot in artery
OBO:HP_0004421	Elevated systolic blood pressure	biolink:OntologyClass	hp	UMLS:C1840374	Abnormal increase in systolic blood pressure.	http://purl.obolibrary.org/obo/HP_0004421		Elevated systolic BP
OBO:HP_0004422	Biparietal narrowing	biolink:OntologyClass	hp	UMLS:C1854418|UMLS:C4280532	A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull).	http://purl.obolibrary.org/obo/HP_0004422		Decreased width of the skull
OBO:HP_0004423	Cranium bifidum occultum	biolink:OntologyClass	hp	MSH:C566826|SNOMEDCT_US:718099006|UMLS:C1868598		http://purl.obolibrary.org/obo/HP_0004423		
OBO:HP_0004425	Flat forehead	biolink:OntologyClass	hp	UMLS:C1857485	A forehead with abnormal flatness.	http://purl.obolibrary.org/obo/HP_0004425		Flat forehead|Flattened forehead|Frontal flattening
OBO:HP_0004426	Abnormality of the cheek	biolink:OntologyClass	hp	UMLS:C4025324	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	http://purl.obolibrary.org/obo/HP_0004426		Abnormality of the cheek|Abnormality of the cheeks|Anomaly of the cheeks|Deformity of the cheeks|Malformation of the cheeks
OBO:HP_0004428	Elfin facies	biolink:OntologyClass	hp	SNOMEDCT_US:69288002|UMLS:C0332606	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.	http://purl.obolibrary.org/obo/HP_0004428	hposlim_core	Elf-like facial appearance|Elf-like facial features|Leprechaun facies
OBO:HP_0004429	Recurrent viral infections	biolink:OntologyClass	hp	UMLS:C1837066	Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection.	http://purl.obolibrary.org/obo/HP_0004429		
OBO:HP_0004430	Severe combined immunodeficiency	biolink:OntologyClass	hp	MSH:D016511|SNOMEDCT_US:31323000|UMLS:C0085110	A combined immunodeficiency primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems.	http://purl.obolibrary.org/obo/HP_0004430		Immunodeficiency, severe combined
OBO:HP_0004431	Complement deficiency	biolink:OntologyClass	hp	SNOMEDCT_US:24743004|UMLS:C0272242	An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins.	http://purl.obolibrary.org/obo/HP_0004431		
OBO:HP_0004432	Agammaglobulinemia	biolink:OntologyClass	hp	MSH:D000361|SNOMEDCT_US:119249001|UMLS:C0001768	A lasting absence of total IgG and total IgA and total IgM in the blood circulation, whereby at most trace quantities can be measured.	http://purl.obolibrary.org/obo/HP_0004432		Agammaglobulinaemia
OBO:HP_0004433	Secretory IgA deficiency	biolink:OntologyClass	hp	MSH:C562869|SNOMEDCT_US:234554004|UMLS:C0398709	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.	http://purl.obolibrary.org/obo/HP_0004433		
OBO:HP_0004434	Decreased serum complement C8	biolink:OntologyClass	hp	UMLS:C3151082	A reduced level of the complement component C8 in circulation.	http://purl.obolibrary.org/obo/HP_0004434		C8 deficiency
OBO:HP_0004437	Cranial hyperostosis	biolink:OntologyClass	hp	UMLS:C1832451|UMLS:C4280528|UMLS:C4280529|UMLS:C4280530|UMLS:C4280531	Excessive growth of the bones of cranium, i.e., of the skull.	http://purl.obolibrary.org/obo/HP_0004437		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
OBO:HP_0004438	Hyperostosis frontalis interna	biolink:OntologyClass	hp	MSH:D006957|SNOMEDCT_US:82054006|UMLS:C0020494|UMLS:C4280524|UMLS:C4280525|UMLS:C4280526|UMLS:C4280527	Bony overgrowth of the internal (endosteal) surface of the frontal bone.	http://purl.obolibrary.org/obo/HP_0004438		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
OBO:HP_0004439	Craniofacial dysostosis	biolink:OntologyClass	hp	MSH:D003394|SNOMEDCT_US:28861008|UMLS:C0010273	A characteristic appearance resulting from defective ossification of craniofacial bones.	http://purl.obolibrary.org/obo/HP_0004439		Crouzon syndrome
OBO:HP_0004440	Coronal craniosynostosis	biolink:OntologyClass	hp	UMLS:C1856266	Premature closure of the coronal suture of skull.	http://purl.obolibrary.org/obo/HP_0004440	hposlim_core	Coronal suture craniosynostosis|Coronal suture synostosis|Craniosynostosis of coronal suture
OBO:HP_0004442	Sagittal craniosynostosis	biolink:OntologyClass	hp	SNOMEDCT_US:109418001|UMLS:C0432123	A kind of craniosynostosis affecting the sagittal suture.	http://purl.obolibrary.org/obo/HP_0004442	hposlim_core	Early closure of midline skull joint|Midline skull joint closes early|Craniosynostosis, sagittal|Craniosynostosis, sagittal suture|Sagittal suture synostosis
OBO:HP_0004443	Lambdoidal craniosynostosis	biolink:OntologyClass	hp	MSH:D003398|SNOMEDCT_US:109417006|UMLS:C1833340	A kind of craniosynostosis affecting the lambdoidal suture.	http://purl.obolibrary.org/obo/HP_0004443	hposlim_core	Lambdoid suture craniosynostosis|Lambdoid suture synostosis
OBO:HP_0004444	Spherocytosis	biolink:OntologyClass	hp	SNOMEDCT_US:17235000|UMLS:C0553720	The presence of erythrocytes that are sphere-shaped.	http://purl.obolibrary.org/obo/HP_0004444		
OBO:HP_0004445	Elliptocytosis	biolink:OntologyClass	hp	MSH:D004612|SNOMEDCT_US:178935009|SNOMEDCT_US:191169008|SNOMEDCT_US:250242004|UMLS:C0013902|UMLS:C0427480	The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear.	http://purl.obolibrary.org/obo/HP_0004445		Ovalocytes|Ovalocytosis|Elliptocyte|Hereditary elliptocytosis
OBO:HP_0004446	Stomatocytosis	biolink:OntologyClass	hp	UMLS:C0677598	The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear.	http://purl.obolibrary.org/obo/HP_0004446		Red cell stomatocytosis|erythrocyte stomatocytes
OBO:HP_0004447	Poikilocytosis	biolink:OntologyClass	hp	SNOMEDCT_US:165479004|UMLS:C0221281	The presence of abnormally shaped erythrocytes.	http://purl.obolibrary.org/obo/HP_0004447		
OBO:HP_0004448	Fulminant hepatic failure	biolink:OntologyClass	hp	MSH:D017114|SNOMEDCT_US:197270009|SNOMEDCT_US:235884008|UMLS:C0162557	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.	http://purl.obolibrary.org/obo/HP_0004448		
OBO:HP_0004450	Preauricular skin furrow	biolink:OntologyClass	hp	UMLS:C1852411	A groove of the skin immediately in front of the ear.	http://purl.obolibrary.org/obo/HP_0004450		Preauricular skin groove|Skin groove in front of the ear|Preauricular skin furrows|Preauricular skin sulcus|Skin sulcus in front of the ear
OBO:HP_0004451	Postauricular skin tag	biolink:OntologyClass	hp	UMLS:C4025323	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).	http://purl.obolibrary.org/obo/HP_0004451		Skin tag behind the ear|Postauricular acrochordon|Postauricular fibroepithelial polyp
OBO:HP_0004452	Abnormality of the middle ear ossicles	biolink:OntologyClass	hp	UMLS:C1836678	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).	http://purl.obolibrary.org/obo/HP_0004452	hposlim_core	Malformed ossicles|Ossicular malformation
OBO:HP_0004453	Overfolding of the superior helices	biolink:OntologyClass	hp	UMLS:C1865304	A condition in which the superior portion of the helix is folded over to a greater degree than normal.	http://purl.obolibrary.org/obo/HP_0004453		Overfolding of superior helix
OBO:HP_0004454	Abnormal middle ear reflexes	biolink:OntologyClass	hp	UMLS:C1970887		http://purl.obolibrary.org/obo/HP_0004454		
OBO:HP_0004458	Dilatated internal auditory canal	biolink:OntologyClass	hp	UMLS:C2676973	The presence of a dilated inner part of external acoustic meatus.	http://purl.obolibrary.org/obo/HP_0004458		Bulbous internal auditory canal|Enlarged internal auditory canal
OBO:HP_0004459	Exostosis of the external auditory canal	biolink:OntologyClass	hp	SNOMEDCT_US:19560007|UMLS:C0155411	A benign bony growth projecting outward from a bone surface within the external auditory canal.	http://purl.obolibrary.org/obo/HP_0004459		External auditory canal exostoses
OBO:HP_0004461	Congenital earlobe sinuses	biolink:OntologyClass	hp	UMLS:C1969394	Pits in the earlobes at the location where ears are typically pierced for earrings.	http://purl.obolibrary.org/obo/HP_0004461		
OBO:HP_0004463	Absent brainstem auditory responses	biolink:OntologyClass	hp	UMLS:C1836742	Lack of measurable response to stimulation of auditory evoked potentials.	http://purl.obolibrary.org/obo/HP_0004463		No auditory brainstem response
OBO:HP_0004464	Postauricular pit	biolink:OntologyClass	hp	SNOMEDCT_US:43887004|UMLS:C0395905	Benign congenital lesion of the postauricular soft tissue consisting of a blind-ending narrow tube or pit.	http://purl.obolibrary.org/obo/HP_0004464	hposlim_core	Pit behind the ear|Postauricular earpits|Postauricular fistula|Posterior auricular pit|Posterior auricular sinus
OBO:HP_0004466	Prolonged brainstem auditory evoked potentials	biolink:OntologyClass	hp	UMLS:C4025322		http://purl.obolibrary.org/obo/HP_0004466		
OBO:HP_0004467	Preauricular pit	biolink:OntologyClass	hp	MSH:C563015|SNOMEDCT_US:1955003|SNOMEDCT_US:204271000|SNOMEDCT_US:204272007|UMLS:C0266610|UMLS:C0266625|UMLS:C0546969	Small indentation anterior to the insertion of the ear.	http://purl.obolibrary.org/obo/HP_0004467		Pit in front of the ear|Ear pit|Preauricular earpits|Preauricular fistulas|Preauricular pits|Preauricular sinus
OBO:HP_0004468	Anomalous tracheal cartilage	biolink:OntologyClass	hp	UMLS:C1863406	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).	http://purl.obolibrary.org/obo/HP_0004468		Abnormal tracheal cartilaginous ring
OBO:HP_0004469	Chronic bronchitis	biolink:OntologyClass	hp	MSH:D029481|SNOMEDCT_US:63480004|UMLS:C0008677	Chronic inflammation of the bronchi.	http://purl.obolibrary.org/obo/HP_0004469		
OBO:HP_0004470	Atretic occipital cephalocele	biolink:OntologyClass	hp	UMLS:C1836600	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.	http://purl.obolibrary.org/obo/HP_0004470		
OBO:HP_0004471	Aplasia cutis congenita over the scalp vertex	biolink:OntologyClass	hp	UMLS:C1970112	A developmental defect resulting in the congenital absence of skin on the scalp vertex, often just lateral to the midline.	http://purl.obolibrary.org/obo/HP_0004471		Absent cutis congenita of vertex|Aplasia cutis congenita of vertex
OBO:HP_0004472	Mandibular hyperostosis	biolink:OntologyClass	hp	UMLS:C4025321|UMLS:C4280521|UMLS:C4280522|UMLS:C4280523	Hyperostosis (bony overgrowth) of the mandible.	http://purl.obolibrary.org/obo/HP_0004472		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
OBO:HP_0004474	Persistent open anterior fontanelle	biolink:OntologyClass	hp	UMLS:C1849537	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.	http://purl.obolibrary.org/obo/HP_0004474		Front fontanelle stays open|Persistent, open anterior fontanel|Anterior fontanelle open in adults
OBO:HP_0004476	Aplasia cutis congenita over parietal area	biolink:OntologyClass	hp	UMLS:C1863492	A developmental defect resulting in the congenital absence of skin on the scalp in the parietal area.	http://purl.obolibrary.org/obo/HP_0004476		Absent cutis congenita over parietal area
OBO:HP_0004478	Ethmoidal encephalocele	biolink:OntologyClass	hp	UMLS:C1843495		http://purl.obolibrary.org/obo/HP_0004478		
OBO:HP_0004481	Progressive macrocephaly	biolink:OntologyClass	hp	UMLS:C1859896	The progressive development of an abnormally large skull.	http://purl.obolibrary.org/obo/HP_0004481		Progressively abnormally enlarging cranium|Progressively abnormally enlarging skull|Macrocephaly, progressive
OBO:HP_0004482	Relative macrocephaly	biolink:OntologyClass	hp	SNOMEDCT_US:3961000119101|UMLS:C1849075	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.	http://purl.obolibrary.org/obo/HP_0004482		Relatively large head|Disproportionately large head|Macrocephaly, relative
OBO:HP_0004484	Craniofacial asymmetry	biolink:OntologyClass	hp	UMLS:C4025320	Asymmetry of the bones of the skull and the face.	http://purl.obolibrary.org/obo/HP_0004484		Abnormality of craniofacial shape|Malformation of craniofacial shape|Uneven craniofacial structures
OBO:HP_0004485	Cessation of head growth	biolink:OntologyClass	hp	UMLS:C4025319	Stagnation of head growth seen as flattening of the head circumference curve.	http://purl.obolibrary.org/obo/HP_0004485		Skull stopped growing|Head stopped growing|Cranium stopped growing
OBO:HP_0004487	Acrobrachycephaly	biolink:OntologyClass	hp	SNOMEDCT_US:711039004|UMLS:C1863395	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.	http://purl.obolibrary.org/obo/HP_0004487		
OBO:HP_0004488	Macrocephaly at birth	biolink:OntologyClass	hp	UMLS:C1836599	The presence of an abnormally large skull with onset at birth.	http://purl.obolibrary.org/obo/HP_0004488	hposlim_core	Big head present at birth|Big head present since birth|Congenital large head|Large head present at birth|Large head present since birth|Big skull present at birth|Big skull present since birth|Large skull present at birth|Large skull present since birth|Big cranium present at birth|Big cranium present since birth|Congenital large cranium|Congenital large skull|Congenital macrocephaly|Head circumference large for gestational age|Large cranium present at birth|Large cranium present since birth
OBO:HP_0004490	Calvarial hyperostosis	biolink:OntologyClass	hp	MSH:C537963|UMLS:C1863351|UMLS:C4280519|UMLS:C4280520	Excessive growth of the calvaria.	http://purl.obolibrary.org/obo/HP_0004490		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
OBO:HP_0004491	Large posterior fontanelle	biolink:OntologyClass	hp	UMLS:C1855233	An enlargement of the posterior fontanelle relative to age-dependent norms.	http://purl.obolibrary.org/obo/HP_0004491		Large posterior fontanel
OBO:HP_0004492	Widely patent fontanelles and sutures	biolink:OntologyClass	hp	UMLS:C1849300	An abnormally increased width of the cranial fontanelles and sutures.	http://purl.obolibrary.org/obo/HP_0004492		Widely patent fontanels and sutures
OBO:HP_0004493	Craniofacial hyperostosis	biolink:OntologyClass	hp	UMLS:C1868085|UMLS:C4280516|UMLS:C4280517|UMLS:C4280518	Excessive growth of the craniofacial bones.	http://purl.obolibrary.org/obo/HP_0004493	hposlim_core	Enlargement of craniofacial bones|Excessive growth of craniofacial bones|Overgrowth of craniofacial bones|Thick craniofacial bones|Excessive bone growth of the skull and face|Hypertrophy of craniofacial bones|Hyperostosis of craniofacial bones|Increased ossification of craniofacial bones
OBO:HP_0004495	Thin anteverted nares	biolink:OntologyClass	hp	UMLS:C1834056		http://purl.obolibrary.org/obo/HP_0004495		
OBO:HP_0004496	Posterior choanal atresia	biolink:OntologyClass	hp	MSH:C562435|UMLS:C0220723	Absence or abnormal closure of the posterior portion of the choana (the posterior nasal aperture).	http://purl.obolibrary.org/obo/HP_0004496		
OBO:HP_0004499	Chronic rhinitis due to narrow nasal airway	biolink:OntologyClass	hp	UMLS:C4025318		http://purl.obolibrary.org/obo/HP_0004499		Chronic nasal inflammation due to narrow nasal airway
OBO:HP_0004502	Bilateral choanal atresia	biolink:OntologyClass	hp	UMLS:C4025317	Bilateral absence (atresia) of the posterior nasal aperture (choana).	http://purl.obolibrary.org/obo/HP_0004502		Bilateral blockage of the rear opening of the nasal cavity|Bilateral obstruction of the rear opening of the nasal cavity
OBO:HP_0004510	Pancreatic islet-cell hyperplasia	biolink:OntologyClass	hp	UMLS:C0597167	Hyperplasia of the islets of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells.	http://purl.obolibrary.org/obo/HP_0004510		Hyperplastic islets of langerhans|Hypertrophic pancreatic islets|Islet of Langerhans hyperplasia|Islets of langerhans hypertrophy|Pancreatic islet-cell hypertrophy
OBO:HP_0004523	Long eyebrows	biolink:OntologyClass	hp	UMLS:C3280131	Increased length of the hairs of the eyebrows.	http://purl.obolibrary.org/obo/HP_0004523		Elongated eyebrow|Increased horizontal length of eyebrow|Increased transverse length of eyebrow|Long eyebrows
OBO:HP_0004524	Temporal hypotrichosis	biolink:OntologyClass	hp	UMLS:C4025316	Reduced or lacking hair growth in the temporal region (i.e., around the temples on the side of the skull).	http://purl.obolibrary.org/obo/HP_0004524		Reduced hair growth in temporal region
OBO:HP_0004527	Large clumps of pigment irregularly distributed along hair shaft	biolink:OntologyClass	hp	UMLS:C4025315		http://purl.obolibrary.org/obo/HP_0004527		Large clumps of pigment irregularly distributed along hair shaft
OBO:HP_0004528	Generalized hypotrichosis	biolink:OntologyClass	hp	UMLS:C4021653	Reduced or lacking hair growth in a generalized distribution.	http://purl.obolibrary.org/obo/HP_0004528		Generalised hypotrichosis|Hypotrichosis, generalized
OBO:HP_0004529	Atrophic, patchy alopecia	biolink:OntologyClass	hp	UMLS:C4025314		http://purl.obolibrary.org/obo/HP_0004529		
OBO:HP_0004532	Sacral hypertrichosis	biolink:OntologyClass	hp	UMLS:C4025313	Excessive, increased hair growth located in the sacral region.	http://purl.obolibrary.org/obo/HP_0004532		
OBO:HP_0004535	Anterior cervical hypertrichosis	biolink:OntologyClass	hp	MSH:C538390|UMLS:C1838123	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.	http://purl.obolibrary.org/obo/HP_0004535		Congenital cervical hypertrichosis|Hypertrichosis, congenital anterior cervical
OBO:HP_0004540	Congenital, generalized hypertrichosis	biolink:OntologyClass	hp	MSH:C538388|UMLS:C1855900	A confluent, generalized overgrowth of silvery blonde to gray lanugo hair at birth.	http://purl.obolibrary.org/obo/HP_0004540		Congenital, generalised hypertrichosis|Congenital generalized hypertrichosis|Hypertrichosis universalis
OBO:HP_0004544	obsolete Pointed frontal hairline	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0004544		
OBO:HP_0004552	Scarring alopecia of scalp	biolink:OntologyClass	hp	UMLS:C3806301		http://purl.obolibrary.org/obo/HP_0004552		Hair loss on scalp from scarring condition|Cicatricial alopecia
OBO:HP_0004554	Generalized hypertrichosis	biolink:OntologyClass	hp	UMLS:C3277940	Generalized excessive, abnormal hairiness.	http://purl.obolibrary.org/obo/HP_0004554		Generalised hypertrichosis
OBO:HP_0004557	Anterior vertebral fusion	biolink:OntologyClass	hp	UMLS:C1969393		http://purl.obolibrary.org/obo/HP_0004557		
OBO:HP_0004558	Cervical platyspondyly	biolink:OntologyClass	hp	UMLS:C1856641	A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the cervical spine.	http://purl.obolibrary.org/obo/HP_0004558		Flattened cervical vertebral bodies
OBO:HP_0004562	Beaking of vertebral bodies T12-L3	biolink:OntologyClass	hp	UMLS:C1854941		http://purl.obolibrary.org/obo/HP_0004562		
OBO:HP_0004563	Increased spinal bone density	biolink:OntologyClass	hp	UMLS:C4020828|UMLS:C4280254|UMLS:C4280513|UMLS:C4280514|UMLS:C4280515	Increased bone density affecting the bones of the spine (vertebral column).	http://purl.obolibrary.org/obo/HP_0004563		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
OBO:HP_0004565	Severe platyspondyly	biolink:OntologyClass	hp	UMLS:C1850293		http://purl.obolibrary.org/obo/HP_0004565		platyspondyly, extreme
OBO:HP_0004566	Pear-shaped vertebrae	biolink:OntologyClass	hp	UMLS:C1866731	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.	http://purl.obolibrary.org/obo/HP_0004566		Pear-shaped vertebral bodies
OBO:HP_0004568	Beaking of vertebral bodies	biolink:OntologyClass	hp	SNOMEDCT_US:19888007|UMLS:C0264112|UMLS:C1856599	Anterior tongue-like protrusions of the vertebral bodies.	http://purl.obolibrary.org/obo/HP_0004568	hposlim_core	Anterior beaking of vertebrae|Anterior beaking of vertebral bodies|Beaked vertebral bodies|Vertebral tongue-like protrusion|anterior beaking
OBO:HP_0004570	Increased vertebral height	biolink:OntologyClass	hp	UMLS:C1864853	Increased top to bottom height of vertebral bodies.	http://purl.obolibrary.org/obo/HP_0004570		Tall vertebral bodies
OBO:HP_0004571	Widening of cervical spinal canal	biolink:OntologyClass	hp	UMLS:C3807591		http://purl.obolibrary.org/obo/HP_0004571		
OBO:HP_0004573	Anterior wedging of T11	biolink:OntologyClass	hp	UMLS:C4021652	An abnormality of the shape of the thoracic vertebra T11 such that it is wedge-shaped (narrow towards the front).	http://purl.obolibrary.org/obo/HP_0004573		Anterior wedging of the 11th thoracic vertebra|Wedge-shaped 11th thoracic vertebra
OBO:HP_0004575	Fusion of midcervical facet joints	biolink:OntologyClass	hp	UMLS:C1847394		http://purl.obolibrary.org/obo/HP_0004575		
OBO:HP_0004576	Sclerotic vertebral endplates	biolink:OntologyClass	hp	UMLS:C1859698	Sclerosis (increased density) affecting vertebral end plates.	http://purl.obolibrary.org/obo/HP_0004576		Endplate sclerosis
OBO:HP_0004580	Anterior scalloping of vertebral bodies	biolink:OntologyClass	hp	UMLS:C2673652	An excessive concavity of the anterior surface of one or more vertebral bodies.	http://purl.obolibrary.org/obo/HP_0004580		Anterior scalloping vertebral bodies
OBO:HP_0004581	Increased anterior vertebral height	biolink:OntologyClass	hp	UMLS:C1866732		http://purl.obolibrary.org/obo/HP_0004581		
OBO:HP_0004582	Irregularity of vertebral bodies	biolink:OntologyClass	hp	UMLS:C4025311		http://purl.obolibrary.org/obo/HP_0004582		
OBO:HP_0004586	Biconcave vertebral bodies	biolink:OntologyClass	hp	UMLS:C1856087	Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward.	http://purl.obolibrary.org/obo/HP_0004586	hposlim_core	Biconcave 'codfish' vertebrae|Biconcave vertebrae|Codfish vertebrae|Fish vertebrae|Scalloping of vertebral bodies
OBO:HP_0004589	Dysplasia of second lumbar vertebra	biolink:OntologyClass	hp	UMLS:C4025310		http://purl.obolibrary.org/obo/HP_0004589		
OBO:HP_0004590	Hypoplastic sacrum	biolink:OntologyClass	hp	UMLS:C1970816		http://purl.obolibrary.org/obo/HP_0004590		Small sacrum
OBO:HP_0004591	Disc-like vertebral bodies	biolink:OntologyClass	hp	UMLS:C1835444		http://purl.obolibrary.org/obo/HP_0004591		
OBO:HP_0004592	Thoracic platyspondyly	biolink:OntologyClass	hp	UMLS:C1862428	A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the thoracic spine.	http://purl.obolibrary.org/obo/HP_0004592		
OBO:HP_0004594	Hump-shaped mound of bone in central and posterior portions of vertebral endplate	biolink:OntologyClass	hp	UMLS:C1839252		http://purl.obolibrary.org/obo/HP_0004594		
OBO:HP_0004598	Supernumerary vertebral ossification centers	biolink:OntologyClass	hp	UMLS:C4025309	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.	http://purl.obolibrary.org/obo/HP_0004598		Supernumerary vertebral ossification centres
OBO:HP_0004599	Absent or minimally ossified vertebral bodies	biolink:OntologyClass	hp	UMLS:C1832983		http://purl.obolibrary.org/obo/HP_0004599		
OBO:HP_0004601	Spina bifida occulta at L5	biolink:OntologyClass	hp	UMLS:C4025308	The closed form of spina bifida with incomplete closure of the vertebra L5 with intact overlying skin.	http://purl.obolibrary.org/obo/HP_0004601		
OBO:HP_0004602	Cervical C2/C3 vertebral fusion	biolink:OntologyClass	hp	MSH:D007714|SNOMEDCT_US:388981000|SNOMEDCT_US:5601008|UMLS:C0022738	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.	http://purl.obolibrary.org/obo/HP_0004602		Fusion of cervical vertebrae c2-3|Klippel-Feil anomaly|Klippel-Feil syndrome
OBO:HP_0004603	Hyperconvex vertebral body endplates	biolink:OntologyClass	hp	UMLS:C4025307		http://purl.obolibrary.org/obo/HP_0004603		
OBO:HP_0004605	Absent vertebral body mineralization	biolink:OntologyClass	hp	UMLS:C1860191	A lack of bone mineralization of the vertebral bodies.	http://purl.obolibrary.org/obo/HP_0004605		
OBO:HP_0004606	Unossified vertebral bodies	biolink:OntologyClass	hp	UMLS:C1860202	A lack of ossification of the vertebral bodies.	http://purl.obolibrary.org/obo/HP_0004606		
OBO:HP_0004607	Anterior beaking of lower thoracic vertebrae	biolink:OntologyClass	hp	UMLS:C4025306	Anterior tongue-like protrusions of the lower thoracic vertebral bodies.	http://purl.obolibrary.org/obo/HP_0004607		
OBO:HP_0004608	Anteriorly placed odontoid process	biolink:OntologyClass	hp	UMLS:C1844512	Anterior mislocalization of the dens of the axis.	http://purl.obolibrary.org/obo/HP_0004608		
OBO:HP_0004609	Patchy distortion of vertebrae	biolink:OntologyClass	hp	UMLS:C4025305		http://purl.obolibrary.org/obo/HP_0004609		
OBO:HP_0004610	Lumbar spinal canal stenosis	biolink:OntologyClass	hp	SNOMEDCT_US:18347007|UMLS:C0158288	An abnormal narrowing of the lumbar spinal canal.	http://purl.obolibrary.org/obo/HP_0004610		Lumbar spinal stenosis|Narrow lumbar spinal canal
OBO:HP_0004611	Anterior concavity of thoracic vertebrae	biolink:OntologyClass	hp	UMLS:C1839822		http://purl.obolibrary.org/obo/HP_0004611		Anteriorly concave vertebrae
OBO:HP_0004614	Spina bifida occulta at S1	biolink:OntologyClass	hp	UMLS:C4025304	The closed form of spina bifida with incomplete closure of S1 with intact overlying skin.	http://purl.obolibrary.org/obo/HP_0004614		
OBO:HP_0004616	Cleft vertebral arch	biolink:OntologyClass	hp	UMLS:C1859458	A discontinuity of the vertebral arch, i.e., of the posterior part of a vertebra.	http://purl.obolibrary.org/obo/HP_0004616		Cleft vertebral arches
OBO:HP_0004617	Butterfly vertebral arch	biolink:OntologyClass	hp	UMLS:C1861627	Butterfly vertebrae have a cleft through the body of the vertebrae and a funnel shape at the ends.	http://purl.obolibrary.org/obo/HP_0004617		
OBO:HP_0004618	Sandwich appearance of vertebral bodies	biolink:OntologyClass	hp	UMLS:C1850134		http://purl.obolibrary.org/obo/HP_0004618		
OBO:HP_0004619	Lumbar kyphoscoliosis	biolink:OntologyClass	hp	UMLS:C1834953		http://purl.obolibrary.org/obo/HP_0004619		
OBO:HP_0004621	Enlarged vertebral pedicles	biolink:OntologyClass	hp	UMLS:C4025303	Increased size of the vertebral pedicle.	http://purl.obolibrary.org/obo/HP_0004621		Hyperplastic vertebral pedicles
OBO:HP_0004622	Progressive intervertebral space narrowing	biolink:OntologyClass	hp	UMLS:C1837670	A progressive form of decreased height of the intervertebral disk.	http://purl.obolibrary.org/obo/HP_0004622		
OBO:HP_0004625	Biconvex vertebral bodies	biolink:OntologyClass	hp	UMLS:C1866675	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.	http://purl.obolibrary.org/obo/HP_0004625		
OBO:HP_0004626	Lumbar scoliosis	biolink:OntologyClass	hp	UMLS:C2748518		http://purl.obolibrary.org/obo/HP_0004626		
OBO:HP_0004629	Small cervical vertebral bodies	biolink:OntologyClass	hp	UMLS:C1851130	Reduced size of cervical vertebrae.	http://purl.obolibrary.org/obo/HP_0004629		Small cervical vertebrae
OBO:HP_0004630	Anterior beaking of thoracic vertebrae	biolink:OntologyClass	hp	UMLS:C4025302	Anterior tongue-like protrusions of thoracic vertebral bodies.	http://purl.obolibrary.org/obo/HP_0004630		
OBO:HP_0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles	biolink:OntologyClass	hp	UMLS:C1839653|UMLS:C4280512		http://purl.obolibrary.org/obo/HP_0004631		Inability to touch chin to chest|Contracture of post-cervical muscles
OBO:HP_0004632	Cervical segmentation defect	biolink:OntologyClass	hp	UMLS:C1862415	An abnormality related to a defect of vertebral separation of cervical vertebrae during development.	http://purl.obolibrary.org/obo/HP_0004632		Cervical spine segmentation defect
OBO:HP_0004633	Lower thoracic kyphosis	biolink:OntologyClass	hp	UMLS:C1864361	Over curvature of the lower thoracic region, leading to a round back or if sever to a hump.	http://purl.obolibrary.org/obo/HP_0004633		Round mid-back
OBO:HP_0004634	Cuboid-shaped vertebral bodies	biolink:OntologyClass	hp	UMLS:C2673653		http://purl.obolibrary.org/obo/HP_0004634		Cuboid vertebral bodies
OBO:HP_0004635	Cervical C5/C6 vertebrae fusion	biolink:OntologyClass	hp	UMLS:C4025301	Fusion of the C5 and C6 cervical vertebrae.	http://purl.obolibrary.org/obo/HP_0004635		
OBO:HP_0004637	Decreased cervical spine mobility	biolink:OntologyClass	hp	UMLS:C1859692		http://purl.obolibrary.org/obo/HP_0004637		Limited neck movement
OBO:HP_0004639	Elevated amniotic fluid alpha-fetoprotein	biolink:OntologyClass	hp	UMLS:C1839860	An elevation of alpha-feto protein measured in the amniotic fluid.	http://purl.obolibrary.org/obo/HP_0004639		Elevated amniotic fluid alpha fetal protein|Elevated amniotic fluid alpha-1-fetoprotein|Elevated amniotic fluid alpha-fetoglobulin
OBO:HP_0004646	Hypoplasia of the nasal bone	biolink:OntologyClass	hp	UMLS:C4021651	Underdevelopment of the nasal bone.	http://purl.obolibrary.org/obo/HP_0004646		Small nasal bone|Decreased size of nasal bone|Deficiency of nasal bone|Underdevelopment of nasal bone|Nasal bone hypoplasia|Hypotrophic nasal bone
OBO:HP_0004660	Hypoplasia of facial musculature	biolink:OntologyClass	hp	UMLS:C1834042|UMLS:C4280509|UMLS:C4280510|UMLS:C4280511	Underdevelopment of one or more muscles innervated by the facial nerve (the seventh cranial nerve).	http://purl.obolibrary.org/obo/HP_0004660		Small facial muscles|Decreased size of facial muscles|Deficiency of facial musculature|Underdevelopment of facial muscles|Atrophy of facial musculature|Hypotrophic facial musculature
OBO:HP_0004661	Frontalis muscle weakness	biolink:OntologyClass	hp	UMLS:C1859438	Reduced strength of the frontalis muscle (which is located on the forehead).	http://purl.obolibrary.org/obo/HP_0004661		Weakness of forehead muscle|Weak frontalis muscle
OBO:HP_0004664	Facial midline hemangioma	biolink:OntologyClass	hp	UMLS:C1862496	Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the midline region of the face.	http://purl.obolibrary.org/obo/HP_0004664		
OBO:HP_0004673	Decreased facial expression	biolink:OntologyClass	hp	UMLS:C1862474	A reduced degree of voluntary and involuntary facial movements involved in responded to others or expressing emotions.	http://purl.obolibrary.org/obo/HP_0004673		Decreased facial expression
OBO:HP_0004676	Prominent supraorbital arches in adult	biolink:OntologyClass	hp	UMLS:C1834993		http://purl.obolibrary.org/obo/HP_0004676		
OBO:HP_0004679	Large tarsal bones	biolink:OntologyClass	hp	UMLS:C1859116		http://purl.obolibrary.org/obo/HP_0004679		Large ankle bones
OBO:HP_0004681	Deep longitudinal plantar crease	biolink:OntologyClass	hp	UMLS:C1859223|UMLS:C4280508	Narrow, paramedian longitudinal depressions in the plantar skin of the forefoot.	http://purl.obolibrary.org/obo/HP_0004681	hposlim_core	Foot crease|Longitudinal groove on soles
OBO:HP_0004684	Talipes valgus	biolink:OntologyClass	hp	SNOMEDCT_US:79807003|UMLS:C0152236	Outward turning of the heel, resulting in clubfoot with the person walking on the inner part of the foot.	http://purl.obolibrary.org/obo/HP_0004684		
OBO:HP_0004686	Short third metatarsal	biolink:OntologyClass	hp	UMLS:C4021650	Underdevelopment of the Third metatarsal bone leading to a short (hypoplastic) third metatarsal bone.	http://purl.obolibrary.org/obo/HP_0004686		Short 3rd long bone of foot|Hypoplasia of the 3rd metatarsal bone
OBO:HP_0004688	Irregular tarsal bones	biolink:OntologyClass	hp	UMLS:C1855240		http://purl.obolibrary.org/obo/HP_0004688		Abnormal shape of ankle bones
OBO:HP_0004689	Short fourth metatarsal	biolink:OntologyClass	hp	UMLS:C1848514	Short fourth metatarsal bone.	http://purl.obolibrary.org/obo/HP_0004689		Short 4th long bone of foot|Bilateral fourth metatarsal shortening|Short fourth metatarsus|Short fourth metatarsals
OBO:HP_0004690	Thickened Achilles tendon	biolink:OntologyClass	hp	UMLS:C0919997	An abnormal thickening of the Achilles tendon.	http://purl.obolibrary.org/obo/HP_0004690		Thickened Achilles tendon
OBO:HP_0004691	2-3 toe syndactyly	biolink:OntologyClass	hp	SNOMEDCT_US:205145001|UMLS:C0432040	Syndactyly with fusion of toes two and three.	http://purl.obolibrary.org/obo/HP_0004691		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
OBO:HP_0004692	4-5 toe syndactyly	biolink:OntologyClass	hp	UMLS:C1837836	Syndactyly with fusion of toes four and five.	http://purl.obolibrary.org/obo/HP_0004692		Webbed 4th-5th toes|Symmetric syndactyly, toes 4 and 5|Syndactyly of toes 4 and 5
OBO:HP_0004695	Calcaneal epiphyseal stippling	biolink:OntologyClass	hp	UMLS:C1861708	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the calcaneus.	http://purl.obolibrary.org/obo/HP_0004695		
OBO:HP_0004696	Talipes cavus equinovarus	biolink:OntologyClass	hp	UMLS:C1832342		http://purl.obolibrary.org/obo/HP_0004696		
OBO:HP_0004699	Osteoporotic metatarsal	biolink:OntologyClass	hp	UMLS:C1836873	Decrease in mass and density of the metatarsal bones.	http://purl.obolibrary.org/obo/HP_0004699		
OBO:HP_0004704	Short fifth metatarsal	biolink:OntologyClass	hp	UMLS:C4021649	Short (hypoplastic) fifth metatarsal bone.	http://purl.obolibrary.org/obo/HP_0004704		Short 5th long bone of foot|Hypoplasia of the fifth metatarsal bone
OBO:HP_0004712	Renal malrotation	biolink:OntologyClass	hp	SNOMEDCT_US:49008000|UMLS:C0238210	An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney.	http://purl.obolibrary.org/obo/HP_0004712		Abnormal rotation of the kidneys|Malrotation of the kidney
OBO:HP_0004713	Reversible renal failure	biolink:OntologyClass	hp	UMLS:C1843276	Acute renal failure with resolution of manifestations.	http://purl.obolibrary.org/obo/HP_0004713		Reversible kidney failure|Reversible renal failure
OBO:HP_0004717	Axial malrotation of the kidney	biolink:OntologyClass	hp	UMLS:C4025300	An abnormality of the normal developmental rotation of the kidney leading to an abnormal axial orientation of the kidney.	http://purl.obolibrary.org/obo/HP_0004717		
OBO:HP_0004719	Hyperechogenic kidneys	biolink:OntologyClass	hp	UMLS:C3275899	An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal.	http://purl.obolibrary.org/obo/HP_0004719		Echogenic kidneys|Increased echogenicity of the renal parenchyma
OBO:HP_0004722	Thickened glomerular basement membrane	biolink:OntologyClass	hp	SNOMEDCT_US:264932002|UMLS:C0445347	Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney.	http://purl.obolibrary.org/obo/HP_0004722		
OBO:HP_0004724	Calcium nephrolithiasis	biolink:OntologyClass	hp	UMLS:C1855801	The presence of calcium-containing calculi (stones) in the kidneys.	http://purl.obolibrary.org/obo/HP_0004724		Ca kidney stone|Ca nephrolithiasis|Ca2+ kidney stone|Ca2+ nephrolithiasis|Calcium kidney stone
OBO:HP_0004727	Impaired renal concentrating ability	biolink:OntologyClass	hp	UMLS:C1859819	A defect in the ability to concentrate the urine.	http://purl.obolibrary.org/obo/HP_0004727		Urine concentrating defect|Urine concentration defect
OBO:HP_0004729	Acute tubulointerstitial nephritis	biolink:OntologyClass	hp	MSH:C564356|UMLS:C1843274	Acute inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.	http://purl.obolibrary.org/obo/HP_0004729		
OBO:HP_0004732	Impaired renal uric acid clearance	biolink:OntologyClass	hp	UMLS:C1969371	A reduction in the ability of the kidneys to remove uric acid from the serum.	http://purl.obolibrary.org/obo/HP_0004732		
OBO:HP_0004734	Renal cortical microcysts	biolink:OntologyClass	hp	UMLS:C1865877	Cysts of microscopic size confined to the cortex of the kidney.	http://purl.obolibrary.org/obo/HP_0004734		Cortical microcysts|Multiple renal cortical microcysts|Multiple small renal cortical cysts
OBO:HP_0004736	Crossed fused renal ectopia	biolink:OntologyClass	hp	UMLS:C1835796	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.	http://purl.obolibrary.org/obo/HP_0004736		Ectopic kidney with fusion
OBO:HP_0004737	Global glomerulosclerosis	biolink:OntologyClass	hp	UMLS:C1865276	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%.	http://purl.obolibrary.org/obo/HP_0004737		
OBO:HP_0004742	Abnormal renal collecting system morphology	biolink:OntologyClass	hp	UMLS:C1851303	An abnormality of the renal collecting system.	http://purl.obolibrary.org/obo/HP_0004742		Abnormal collecting system|Abnormality of the renal collecting system|Renal collecting system anomalies
OBO:HP_0004743	Chronic tubulointerstitial nephritis	biolink:OntologyClass	hp	SNOMEDCT_US:60926001|UMLS:C0238304	Chronic inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.	http://purl.obolibrary.org/obo/HP_0004743		
OBO:HP_0004746	Glomerular subendothelial electron-dense deposits	biolink:OntologyClass	hp	MSH:D015432|SNOMEDCT_US:59479006|UMLS:C0268743	Electron dense deposits at the glomerular basement membrane,	http://purl.obolibrary.org/obo/HP_0004746		Dense deposit disease|Membranoproliferative glomerulonephritis type II
OBO:HP_0004749	Atrial flutter	biolink:OntologyClass	hp	MSH:D001282|SNOMEDCT_US:5370000|UMLS:C0004239	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.	http://purl.obolibrary.org/obo/HP_0004749		
OBO:HP_0004751	Paroxysmal ventricular tachycardia	biolink:OntologyClass	hp	SNOMEDCT_US:66657009|UMLS:C0030591	Episodes of ventricular tachycardia that have a sudden onset and ending.	http://purl.obolibrary.org/obo/HP_0004751		Episodes of ventricular tachycardia
OBO:HP_0004752	Congenital atrioventricular dissociation	biolink:OntologyClass	hp	UMLS:C4025299	A form of atrioventricular (AV) dissociation (i.e., the atria and the ventricles are under the control of two separate pacemakers) with congenital onset.	http://purl.obolibrary.org/obo/HP_0004752		
OBO:HP_0004754	Permanent atrial fibrillation	biolink:OntologyClass	hp	SNOMEDCT_US:426749004|SNOMEDCT_US:440028005|UMLS:C0694539|UMLS:C2586056	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.	http://purl.obolibrary.org/obo/HP_0004754		Chronic atrial fibrillation
OBO:HP_0004755	Supraventricular tachycardia	biolink:OntologyClass	hp	MSH:D013617|SNOMEDCT_US:6456007|UMLS:C0039240|UMLS:C1698480	Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles.	http://purl.obolibrary.org/obo/HP_0004755		SVT|Supraventricular tachyarrhythmia
OBO:HP_0004756	Ventricular tachycardia	biolink:OntologyClass	hp	Fyler:7160|MSH:D017180|SNOMEDCT_US:25569003|UMLS:C0042514	A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms).	http://purl.obolibrary.org/obo/HP_0004756		
OBO:HP_0004757	Paroxysmal atrial fibrillation	biolink:OntologyClass	hp	MSH:D001281|SNOMEDCT_US:282825002|UMLS:C0235480	Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously.	http://purl.obolibrary.org/obo/HP_0004757		Atrial fibrillation, paroxysmal
OBO:HP_0004758	Effort-induced polymorphic ventricular tachycardia	biolink:OntologyClass	hp	UMLS:C4025298	Polymorphic ventricular arrhythmias of varying morphologythat do not exist under resting conditions but appear only upon physical exercise or catecholamine administration.	http://purl.obolibrary.org/obo/HP_0004758		Catecholaminergic polymorphic ventricular tachycardia|Exercise-induced polymorphic ventricular tachycardia
OBO:HP_0004759	obsolete Nodular calcific aortic valve disease	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0004759		
OBO:HP_0004760	obsolete Congenital septal defect	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0004760		
OBO:HP_0004761	Post-angioplasty coronary artery restenosis	biolink:OntologyClass	hp	UMLS:C2676505		http://purl.obolibrary.org/obo/HP_0004761		
OBO:HP_0004762	Hypoplasia of right ventricle	biolink:OntologyClass	hp	Fyler:1821|UMLS:C4082954	Underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells.	http://purl.obolibrary.org/obo/HP_0004762		Small right heart chamber|Underdeveloped right heart chamber|Heart right ventricle hypoplasia
OBO:HP_0004763	Paroxysmal supraventricular tachycardia	biolink:OntologyClass	hp	SNOMEDCT_US:67198005|UMLS:C0030590|UMLS:C4280507	An episodic form of supraventricular tachycardia with abrupt onset and termination.	http://purl.obolibrary.org/obo/HP_0004763		Episodic rapid heart beat|Episodic supraventricular tachycardia
OBO:HP_0004764	Myxomatous mitral valve degeneration	biolink:OntologyClass	hp	SNOMEDCT_US:253395003|SNOMEDCT_US:42069006|UMLS:C0264885	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.	http://purl.obolibrary.org/obo/HP_0004764		
OBO:HP_0004768	Sparse anterior scalp hair	biolink:OntologyClass	hp	UMLS:C1866246	Decreased number of head hairs per unit area on the anterior region of the scalp.	http://purl.obolibrary.org/obo/HP_0004768		Sparse scalp hair at front of head|Thin scalp hair at front of head
OBO:HP_0004771	Premature graying of body hair	biolink:OntologyClass	hp	UMLS:C1849125		http://purl.obolibrary.org/obo/HP_0004771		Premature graying of body hair|Premature greying of body hair
OBO:HP_0004779	Brittle scalp hair	biolink:OntologyClass	hp	UMLS:C4025296	Fragile, easily breakable scalp hair.	http://purl.obolibrary.org/obo/HP_0004779		Brittle scalp hair
OBO:HP_0004780	Elbow hypertrichosis	biolink:OntologyClass	hp	UMLS:C4025295	Excessive, increased hair growth located in the elbow region.	http://purl.obolibrary.org/obo/HP_0004780		Hairy elbow|Hairy elbow syndrome|Hypertrichosis cubiti|Pilosity of elbow
OBO:HP_0004782	obsolete Hypotrichosis of the scalp	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0004782		
OBO:HP_0004783	Duodenal polyposis	biolink:OntologyClass	hp	SNOMEDCT_US:301797007|UMLS:C0578477	Presence of multiple polyps in the duodenum.	http://purl.obolibrary.org/obo/HP_0004783		Multiple duodenal polyps
OBO:HP_0004784	Juvenile gastrointestinal polyposis	biolink:OntologyClass	hp	UMLS:C4025294	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.	http://purl.obolibrary.org/obo/HP_0004784		Juvenile GI polyposis
OBO:HP_0004785	Malrotation of colon	biolink:OntologyClass	hp	SNOMEDCT_US:6477005|UMLS:C0266196	An anatomical anomaly that results from an abnormal rotation of the gut as it returns to the abdominal cavity during embryogenesis.	http://purl.obolibrary.org/obo/HP_0004785		
OBO:HP_0004786	Jejunal diverticula	biolink:OntologyClass	hp	UMLS:C4025293		http://purl.obolibrary.org/obo/HP_0004786		
OBO:HP_0004787	Fulminant hepatitis	biolink:OntologyClass	hp	SNOMEDCT_US:427044009|UMLS:C0302809	Acute hepatitis complicated by acute liver failure with hepatic encephalopathy occurring less than 8 weeks after the onset of jaundice.	http://purl.obolibrary.org/obo/HP_0004787		
OBO:HP_0004788	Intestinal lymphedema	biolink:OntologyClass	hp	UMLS:C4025292	Fluid retention and edema in the intestine caused by a compromised lymphatic system.	http://purl.obolibrary.org/obo/HP_0004788		
OBO:HP_0004789	Lactose intolerance	biolink:OntologyClass	hp	MSH:D007787|SNOMEDCT_US:267425008|SNOMEDCT_US:700094005|UMLS:C0022951	An inability to digest lactose.	http://purl.obolibrary.org/obo/HP_0004789		Lactose intolerance|Milk intolerance
OBO:HP_0004790	Hypoplasia of the small intestine	biolink:OntologyClass	hp	UMLS:C4025291	Underdevelopment of the small intestine.	http://purl.obolibrary.org/obo/HP_0004790		Underdeveloped small intestine
OBO:HP_0004791	Esophageal ulceration	biolink:OntologyClass	hp	SNOMEDCT_US:30811009|UMLS:C0151970	Defect in the epithelium of the esophagus, essentially an open sore in the lining of the esophagus.	http://purl.obolibrary.org/obo/HP_0004791		Esophagus ulcer|Oesophagus ulceration
OBO:HP_0004792	Rectoperineal fistula	biolink:OntologyClass	hp	UMLS:C0240880	The presence of a fistula between the perineum and the rectum.	http://purl.obolibrary.org/obo/HP_0004792		
OBO:HP_0004794	Malrotation of small bowel	biolink:OntologyClass	hp	UMLS:C1860244	A deviation from the normal rotation of the midgut during embryologic development with mislocalization of the small bowel.	http://purl.obolibrary.org/obo/HP_0004794		Malrotation of the small intestine
OBO:HP_0004795	Hamartomatous stomach polyps	biolink:OntologyClass	hp	UMLS:C1862304	Polyp-like protrusions which are histologically hamartomas located in the stomach.	http://purl.obolibrary.org/obo/HP_0004795		
OBO:HP_0004796	Gastrointestinal obstruction	biolink:OntologyClass	hp	SNOMEDCT_US:126765001|UMLS:C0236124		http://purl.obolibrary.org/obo/HP_0004796		GI obstruction|Gastrointestinal obstruction|Obstruction in digestive tract
OBO:HP_0004797	Multiple small bowel atresias	biolink:OntologyClass	hp	UMLS:C1857476	The presence of multiple areas of atresia affecting the small intestine.	http://purl.obolibrary.org/obo/HP_0004797		
OBO:HP_0004798	Recurrent infection of the gastrointestinal tract	biolink:OntologyClass	hp	SNOMEDCT_US:715852004|UMLS:C1854495|UMLS:C4082764	Recurrent infection of the gastrointestinal tract.	http://purl.obolibrary.org/obo/HP_0004798		Recurrent infection of the GI tract|Recurrent gastrointestinal infections|Recurrent infection of the gastrointestinal tract|Gastrointestinal infections|Gastrointestinal infections, recurrent
OBO:HP_0004799	Jejunoileal diverticula	biolink:OntologyClass	hp	UMLS:C4025290		http://purl.obolibrary.org/obo/HP_0004799		
OBO:HP_0004800	Duodenal diverticula	biolink:OntologyClass	hp	SNOMEDCT_US:197083003|UMLS:C0341266		http://purl.obolibrary.org/obo/HP_0004800		
OBO:HP_0004802	Episodic hemolytic anemia	biolink:OntologyClass	hp	UMLS:C1859495	A form of hemolytic anemia that occurs in repeated episodes.	http://purl.obolibrary.org/obo/HP_0004802		Episodic hemolytic anaemia|Episodic hemolysis
OBO:HP_0004804	Congenital hemolytic anemia	biolink:OntologyClass	hp	MSH:D000745|SNOMEDCT_US:38911009|SNOMEDCT_US:42601008|UMLS:C0002881|UMLS:C4020827	A form of hemolytic anemia with congenital onset.	http://purl.obolibrary.org/obo/HP_0004804		Congenital hemolytic anaemia|Congenital haemolytic anemia|Neonatal hemolytic anemia
OBO:HP_0004808	Acute myeloid leukemia	biolink:OntologyClass	hp	MSH:D015470|SNOMEDCT_US:17788007|SNOMEDCT_US:413443009|SNOMEDCT_US:91861009|UMLS:C0023467	A form of leukemia characterized by overproduction of an early myeloid cell.	http://purl.obolibrary.org/obo/HP_0004808		AML|Acute myeloid leukaemia|Acute myeloblastic leukemia|Acute myelocytic leukemia|Acute myelogenous leukemia
OBO:HP_0004809	Neonatal alloimmune thrombocytopenia	biolink:OntologyClass	hp	MSH:D054098|SNOMEDCT_US:240305000|UMLS:C3853779	Low platelet count associated with maternal platelet-specific alloantibodies.	http://purl.obolibrary.org/obo/HP_0004809		
OBO:HP_0004810	Congenital hypoplastic anemia	biolink:OntologyClass	hp	MSH:D000742|MSH:D029503|SNOMEDCT_US:234371002|SNOMEDCT_US:52951008|SNOMEDCT_US:88854002|UMLS:C0002876|UMLS:C1260899	A type of hypoplastic anemia with congenital onset.	http://purl.obolibrary.org/obo/HP_0004810		Congenital hypoplastic anaemia|Congenital dyserythropoietic anemia
OBO:HP_0004812	B Acute Lymphoblastic Leukemia	biolink:OntologyClass	hp		A type of ALL characterized by elevated levels of B-cell lymphoblasts in the bone marrow and the blood.	http://purl.obolibrary.org/obo/HP_0004812		B Acute Lymphoblastic Leukaemia|Pre-B-cell acute lymphoblastic leukemia
OBO:HP_0004813	Post-transfusion thrombocytopenia	biolink:OntologyClass	hp	MSH:C562868|SNOMEDCT_US:73162004|UMLS:C0398648|UMLS:C1868252	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.	http://purl.obolibrary.org/obo/HP_0004813		Post-transfusion purpura
OBO:HP_0004814	Fava bean-induced hemolytic anemia	biolink:OntologyClass	hp	UMLS:C4021648	A kind of hemolytic anemia that is induced by the ingestion of fava beans.	http://purl.obolibrary.org/obo/HP_0004814		Fava bean-induced hemolytic anaemia|Hemolytic anemia following ingestion of fava beans
OBO:HP_0004817	Drug-sensitive hemolytic anemia	biolink:OntologyClass	hp	UMLS:C4025289	A form of hemolytic anemia that is triggered by ingestion of certain drugs.	http://purl.obolibrary.org/obo/HP_0004817		Drug-sensitive hemolytic anaemia
OBO:HP_0004818	Paroxysmal nocturnal hemoglobinuria	biolink:OntologyClass	hp	MSH:D006457|SNOMEDCT_US:1963002|UMLS:C0024790		http://purl.obolibrary.org/obo/HP_0004818		Paroxysmal nocturnal haemoglobinuria
OBO:HP_0004819	Normocytic hypoplastic anemia	biolink:OntologyClass	hp	UMLS:C1835875	A type of hypoplastic anemia in which the erythrocytes have a normal cell volume (the mean corpuscular volume is within normal limits).	http://purl.obolibrary.org/obo/HP_0004819		Normocytic hypoplastic anaemia
OBO:HP_0004820	Acute myelomonocytic leukemia	biolink:OntologyClass	hp	MSH:D015479|SNOMEDCT_US:110005000|SNOMEDCT_US:277601005|SNOMEDCT_US:30962008|UMLS:C0023479	An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors.	http://purl.obolibrary.org/obo/HP_0004820		Acute myelomonocytic leukaemia
OBO:HP_0004821	Hypersegmentation of neutrophil nuclei	biolink:OntologyClass	hp	UMLS:C4025288	An excessive division of the lobes of the nucleus of a neutrophil.	http://purl.obolibrary.org/obo/HP_0004821		Hypermature neutrophils|Hypersegmentation of neutrophil nuclei in peripheral blood
OBO:HP_0004822	Atypical elliptocytosis	biolink:OntologyClass	hp	MSH:C565598|UMLS:C1857010		http://purl.obolibrary.org/obo/HP_0004822		
OBO:HP_0004823	Anisopoikilocytosis	biolink:OntologyClass	hp	UMLS:C2675920	A type of poikilocytosis characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes.	http://purl.obolibrary.org/obo/HP_0004823		
OBO:HP_0004825	Increased hemoglobin oxygen affinity	biolink:OntologyClass	hp	UMLS:C4021647	An abnormal increase in the binding affinity of hemoglobin for oxygen.	http://purl.obolibrary.org/obo/HP_0004825		Increased Hb O2 affinity|Increased Hb oxygen affinity|Increased hemoglobin O2 affinity|Increased haemoglobin oxygen affinity
OBO:HP_0004826	Folate-unresponsive megaloblastic anemia	biolink:OntologyClass	hp	UMLS:C4025287	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.	http://purl.obolibrary.org/obo/HP_0004826		Folate-unresponsive megaloblastic anaemia
OBO:HP_0004828	Refractory anemia with ringed sideroblasts	biolink:OntologyClass	hp	ICD-O:M9982/3|SNOMEDCT_US:109998009|SNOMEDCT_US:128846006|UMLS:C1264195	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.	http://purl.obolibrary.org/obo/HP_0004828		Refractory anaemia with ringed sideroblasts|Myelodysplasia with sideroblastosis
OBO:HP_0004831	Recurrent thromboembolism	biolink:OntologyClass	hp	UMLS:C0749398|UMLS:C4025286	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.	http://purl.obolibrary.org/obo/HP_0004831		Recurrent thromboembolic disease
OBO:HP_0004835	Microspherocytosis	biolink:OntologyClass	hp	UMLS:C4025285	The presence of erythrocytes that are sphere-shaped and reduced in size.	http://purl.obolibrary.org/obo/HP_0004835		
OBO:HP_0004836	Acute promyelocytic leukemia	biolink:OntologyClass	hp	MSH:D015473|SNOMEDCT_US:110004001|SNOMEDCT_US:28950004|UMLS:C0023487	A type of acute myeloid leukemia in which abnormal promyelocytes predominate.	http://purl.obolibrary.org/obo/HP_0004836		Acute promyelocytic leukaemia
OBO:HP_0004839	Pyropoikilocytosis	biolink:OntologyClass	hp	MSH:C563004|SNOMEDCT_US:9434008|UMLS:C0520739	A form of severe hemolytic anemia characterized by erythrocyte morphology reminiscent of that seen in patients after a thermal burn.	http://purl.obolibrary.org/obo/HP_0004839		hereditary pyropoikilocytosis
OBO:HP_0004840	Hypochromic microcytic anemia	biolink:OntologyClass	hp	MSH:C536357|SNOMEDCT_US:44666001|UMLS:C0271901	A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes.	http://purl.obolibrary.org/obo/HP_0004840		Hypochromic microcytic anaemia|Hypochromic, microcytic anemia
OBO:HP_0004841	Reduced factor XII activity	biolink:OntologyClass	hp	MSH:D005175|SNOMEDCT_US:46981006|UMLS:C0015526	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.	http://purl.obolibrary.org/obo/HP_0004841		Factor XII deficiency|Hageman factor deficiency
OBO:HP_0004844	Coombs-positive hemolytic anemia	biolink:OntologyClass	hp	SNOMEDCT_US:74789008|UMLS:C0520736	A type of hemolytic anemia in which the Coombs test is positive.	http://purl.obolibrary.org/obo/HP_0004844		Coombs-positive hemolytic anaemia|Direct Coombs positive
OBO:HP_0004845	Acute monocytic leukemia	biolink:OntologyClass	hp	MSH:D007948|SNOMEDCT_US:22331004|SNOMEDCT_US:413441006|UMLS:C0023465	The accumulation of transformed primitive hematopoietic blast cells, which lose their ability of normal differentiation and proliferation.	http://purl.obolibrary.org/obo/HP_0004845		AML-M5|AMoL|Acute monocytic leukaemia|Acute monoblastic leukemia
OBO:HP_0004846	Prolonged bleeding after surgery	biolink:OntologyClass	hp	UMLS:C4021646	Bleeding that persists longer than the normal time following a surgical procedure.	http://purl.obolibrary.org/obo/HP_0004846		Excessive bleeding during surgery|Prolonged bleeding after surgery|Protracted bleeding after surgery
OBO:HP_0004848	Ph-positive acute lymphoblastic leukemia	biolink:OntologyClass	hp	SNOMEDCT_US:425688002|SNOMEDCT_US:426955004|UMLS:C1960397	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.	http://purl.obolibrary.org/obo/HP_0004848		Ph-positive acute lymphoblastic leukaemia|Philadelphia-positive acute lymphoblastic leukemia
OBO:HP_0004850	Recurrent deep vein thrombosis	biolink:OntologyClass	hp	SNOMEDCT_US:710167004|UMLS:C1735901	Repeated episodes of the formation of a blot clot in a deep vein.	http://purl.obolibrary.org/obo/HP_0004850		Recurrent deep vein blood clot|Recurrent venous thrombosis
OBO:HP_0004851	Folate-responsive megaloblastic anemia	biolink:OntologyClass	hp	UMLS:C2749656	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.	http://purl.obolibrary.org/obo/HP_0004851		Folate-responsive megaloblastic anaemia
OBO:HP_0004852	Reduced leukocyte alkaline phosphatase	biolink:OntologyClass	hp	UMLS:C1850780	Decreased alkaline phosphatase measured within leukocytes.	http://purl.obolibrary.org/obo/HP_0004852		Reduced leukocyte ALP|Low leukocyte alkaline phosphatase
OBO:HP_0004854	Intermittent thrombocytopenia	biolink:OntologyClass	hp	UMLS:C1839167	Reduced platelet count that occurs sporadically, i.e., it comes and goes.	http://purl.obolibrary.org/obo/HP_0004854		
OBO:HP_0004855	Reduced protein S activity	biolink:OntologyClass	hp	MSH:D018455|SNOMEDCT_US:1563006|UMLS:C0242666|UMLS:C4025284	An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein S. Protein S is a cofactor of protein C.	http://purl.obolibrary.org/obo/HP_0004855		Protein S deficiency
OBO:HP_0004856	Normochromic microcytic anemia	biolink:OntologyClass	hp	SNOMEDCT_US:4984008|UMLS:C0271902	A type of anemia characterized by an normal concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes.	http://purl.obolibrary.org/obo/HP_0004856		Normochromic microcytic anaemia
OBO:HP_0004857	Hyperchromic macrocytic anemia	biolink:OntologyClass	hp	UMLS:C3854594	A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of haemoglobin.	http://purl.obolibrary.org/obo/HP_0004857		Hyperchromic macrocytic anaemia
OBO:HP_0004859	Amegakaryocytic thrombocytopenia	biolink:OntologyClass	hp	SNOMEDCT_US:234482009|UMLS:C0398639	Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes.	http://purl.obolibrary.org/obo/HP_0004859		
OBO:HP_0004860	Thiamine-responsive megaloblastic anemia	biolink:OntologyClass	hp	SNOMEDCT_US:12907000|UMLS:C0271972	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.	http://purl.obolibrary.org/obo/HP_0004860		Thiamine-responsive megaloblastic anaemia
OBO:HP_0004861	Refractory macrocytic anemia	biolink:OntologyClass	hp	UMLS:C2675059		http://purl.obolibrary.org/obo/HP_0004861		Refractory macrocytic anaemia
OBO:HP_0004863	Compensated hemolytic anemia	biolink:OntologyClass	hp	UMLS:C4025283		http://purl.obolibrary.org/obo/HP_0004863		Compensated hemolytic anaemia
OBO:HP_0004864	Refractory sideroblastic anemia	biolink:OntologyClass	hp	MSH:D000756|SNOMEDCT_US:41841004|UMLS:C0002896	A type of sideroblastic anemia that is not responsive to treatment.	http://purl.obolibrary.org/obo/HP_0004864		Refractory sideroblastic anaemia
OBO:HP_0004866	Impaired ADP-induced platelet aggregation	biolink:OntologyClass	hp	UMLS:C4025282	Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP.	http://purl.obolibrary.org/obo/HP_0004866		
OBO:HP_0004870	Chronic hemolytic anemia	biolink:OntologyClass	hp	SNOMEDCT_US:707480001|UMLS:C1387532	An chronic form of hemolytic anemia.	http://purl.obolibrary.org/obo/HP_0004870		Chronic hemolytic anaemia|hemolytic anemia, chronic
OBO:HP_0004871	Perineal fistula	biolink:OntologyClass	hp	SNOMEDCT_US:284077005|UMLS:C0561921	The presence of a fistula between the bowel and the perineum.	http://purl.obolibrary.org/obo/HP_0004871		
OBO:HP_0004872	Incisional hernia	biolink:OntologyClass	hp	MSH:D000069290|SNOMEDCT_US:236037000|SNOMEDCT_US:241556001|UMLS:C0267716|UMLS:C4021645	An abdominal hernia that occurs at a site of weakness in the abdominal wall resulting from an incompletely-healed surgical wound.	http://purl.obolibrary.org/obo/HP_0004872		Recurrent abdominal hernia
OBO:HP_0004875	Neonatal inspiratory stridor	biolink:OntologyClass	hp	UMLS:C4025281		http://purl.obolibrary.org/obo/HP_0004875		
OBO:HP_0004876	Spontaneous neonatal pneumothorax	biolink:OntologyClass	hp	UMLS:C1857021	Pneumothorax occurring neonatally without traumatic injury to the chest or lung.	http://purl.obolibrary.org/obo/HP_0004876		Neonatal pneumothorax
OBO:HP_0004878	Intercostal muscle weakness	biolink:OntologyClass	hp	UMLS:C0240017	Lack of strength of the intercostal muscles, i.e., of the muscle groups running along the ribs that create and move the chest wall.	http://purl.obolibrary.org/obo/HP_0004878		Muscle weakness between ribs|Dependence on diaphragmatic breathing
OBO:HP_0004879	Intermittent hyperventilation	biolink:OntologyClass	hp	SNOMEDCT_US:423427003|UMLS:C1828017	Episodic hyperventilation.	http://purl.obolibrary.org/obo/HP_0004879		Intermittent overbreathing|Episodic hyperventilation
OBO:HP_0004880	Respiratory infections in early life	biolink:OntologyClass	hp	UMLS:C4025280	Increased susceptibility to respiratory infections in early life, as manifested by recurrent episodes of respiratory infections.	http://purl.obolibrary.org/obo/HP_0004880		
OBO:HP_0004881	Episodic hypoventilation	biolink:OntologyClass	hp	UMLS:C1844946		http://purl.obolibrary.org/obo/HP_0004881		Episodic slow breathing|Episodic under breathing
OBO:HP_0004885	Episodic respiratory distress	biolink:OntologyClass	hp	UMLS:C1844945		http://purl.obolibrary.org/obo/HP_0004885		Episodic difficulty breathing|respiratory distress, episodic
OBO:HP_0004886	Congenital laryngeal stridor	biolink:OntologyClass	hp	SNOMEDCT_US:55490007|UMLS:C0265763		http://purl.obolibrary.org/obo/HP_0004886		
OBO:HP_0004887	Respiratory failure requiring assisted ventilation	biolink:OntologyClass	hp	UMLS:C4025279	A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation.	http://purl.obolibrary.org/obo/HP_0004887		Respiratory distress necessitating mechanical ventilation|Respiratory distress requiring endotracheal intubation|Respiratory distress requiring mechanical ventilation
OBO:HP_0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	biolink:OntologyClass	hp	UMLS:C3807025		http://purl.obolibrary.org/obo/HP_0004889		
OBO:HP_0004890	Elevated pulmonary artery pressure	biolink:OntologyClass	hp	UMLS:C3805917	An abnormally elevated blood pressure in the circulation of the pulmonary artery.	http://purl.obolibrary.org/obo/HP_0004890		increased pulmonary artery pressure|Elevated lung artery pressure
OBO:HP_0004891	Recurrent infections due to aspiration	biolink:OntologyClass	hp	UMLS:C3806285	Increased susceptibility to infections due to aspiration, as manifested by recurrent episodes of infections due to aspiration.	http://purl.obolibrary.org/obo/HP_0004891		
OBO:HP_0004894	Laryngotracheal stenosis	biolink:OntologyClass	hp	UMLS:C3806280		http://purl.obolibrary.org/obo/HP_0004894		
OBO:HP_0004897	Stress/infection-induced lactic acidosis	biolink:OntologyClass	hp	UMLS:C4025278	A form of lactic acidemia that occurs in relation to stress or infection.	http://purl.obolibrary.org/obo/HP_0004897		Metabolic crises during febrile infections
OBO:HP_0004898	Persistent lactic acidosis	biolink:OntologyClass	hp	UMLS:C3554538	A continuous form of lactic acidemia.	http://purl.obolibrary.org/obo/HP_0004898		
OBO:HP_0004900	Severe lactic acidosis	biolink:OntologyClass	hp	UMLS:C1839436	A severe form of lactic acidemia.	http://purl.obolibrary.org/obo/HP_0004900		
OBO:HP_0004901	Exercise-induced lactic acidemia	biolink:OntologyClass	hp	UMLS:C4025277	A form of lactic acidemia that occurs following exercise or exertion.	http://purl.obolibrary.org/obo/HP_0004901		Exercise-induced lactic acidosis
OBO:HP_0004902	Congenital lactic acidosis	biolink:OntologyClass	hp	UMLS:C4025276	A form of lactic acidemia with congenital onset.	http://purl.obolibrary.org/obo/HP_0004902		
OBO:HP_0004904	Maturity-onset diabetes of the young	biolink:OntologyClass	hp	MSH:C562772|SNOMEDCT_US:609561005|UMLS:C0342276	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.	http://purl.obolibrary.org/obo/HP_0004904		MODY|Maturity onset diabetes of the young
OBO:HP_0004905	Low levels of vitamin A	biolink:OntologyClass	hp	MSH:D014802|SNOMEDCT_US:72000004|UMLS:C0042842	A reduced concentration of vitamin A.	http://purl.obolibrary.org/obo/HP_0004905		Vitamin A deficiency
OBO:HP_0004906	Hypernatremic dehydration	biolink:OntologyClass	hp	SNOMEDCT_US:427784006|UMLS:C1850544		http://purl.obolibrary.org/obo/HP_0004906		
OBO:HP_0004909	Hypokalemic hypochloremic metabolic alkalosis	biolink:OntologyClass	hp	UMLS:C0740896		http://purl.obolibrary.org/obo/HP_0004909		
OBO:HP_0004910	Bicarbonate-wasting renal tubular acidosis	biolink:OntologyClass	hp	UMLS:C1858626		http://purl.obolibrary.org/obo/HP_0004910		HCO3-wasting renal tubular acidosis|Renal bicarbonate wasting
OBO:HP_0004911	Episodic metabolic acidosis	biolink:OntologyClass	hp	UMLS:C1859516	Repeated transient episodes of metabolic acidosis, that is, of the buildup of acid or depletion of base due to accumulation of metabolic acids.	http://purl.obolibrary.org/obo/HP_0004911		Recurrent episodes of acidosis
OBO:HP_0004912	Hypophosphatemic rickets	biolink:OntologyClass	hp	MSH:D063730|SNOMEDCT_US:66266003|UMLS:C1704375		http://purl.obolibrary.org/obo/HP_0004912		
OBO:HP_0004913	Intermittent lactic acidemia	biolink:OntologyClass	hp	UMLS:C1844917	An intermittent (discontinuous) form of lactic acidemia.	http://purl.obolibrary.org/obo/HP_0004913		
OBO:HP_0004914	Recurrent infantile hypoglycemia	biolink:OntologyClass	hp	UMLS:C4021644	Recurrent episodes of decreased concentration of glucose in the blood occurring during the infantile period.	http://purl.obolibrary.org/obo/HP_0004914		Recurrent low blood sugar in infant|Episodic infantile hypoglycemia
OBO:HP_0004915	Impairment of galactose metabolism	biolink:OntologyClass	hp	UMLS:C4021643	An impairment of galactose metabolism.	http://purl.obolibrary.org/obo/HP_0004915		Impaired galactose metabolism
OBO:HP_0004916	Generalized distal tubular acidosis	biolink:OntologyClass	hp	UMLS:C4025275		http://purl.obolibrary.org/obo/HP_0004916		Generalised distal tubular acidosis
OBO:HP_0004918	Hyperchloremic metabolic acidosis	biolink:OntologyClass	hp	UMLS:C1969073	A form of metabolic acidosis with increased serum chloride levels.	http://purl.obolibrary.org/obo/HP_0004918		Non-gap acidosis
OBO:HP_0004919	Galactose intolerance	biolink:OntologyClass	hp	MSH:D005693|SNOMEDCT_US:190745006|SNOMEDCT_US:190749000|UMLS:C0016952		http://purl.obolibrary.org/obo/HP_0004919		
OBO:HP_0004920	Phenylpyruvic acidemia	biolink:OntologyClass	hp	UMLS:C1849926		http://purl.obolibrary.org/obo/HP_0004920		
OBO:HP_0004921	Abnormal magnesium concentration	biolink:OntologyClass	hp	UMLS:C4020826|UMLS:C4025274	An abnormality of magnesium ion homeostasis.	http://purl.obolibrary.org/obo/HP_0004921		Abnormal Mg concentration|Abnormality of magnesium homeostasis|Abnormal magnesium metabolism
OBO:HP_0004922	Atypical hyperphenylalaninemia	biolink:OntologyClass	hp	UMLS:C4025273		http://purl.obolibrary.org/obo/HP_0004922		
OBO:HP_0004923	Hyperphenylalaninemia	biolink:OntologyClass	hp	MSH:D010661|SNOMEDCT_US:68528007|UMLS:C0751435	An increased concentration of L-phenylalanine in the blood.	http://purl.obolibrary.org/obo/HP_0004923		
OBO:HP_0004924	Abnormal oral glucose tolerance	biolink:OntologyClass	hp	UMLS:C1847425	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.	http://purl.obolibrary.org/obo/HP_0004924		Abnormal glucose oral tolerance test
OBO:HP_0004925	Chronic lactic acidosis	biolink:OntologyClass	hp	UMLS:C1839437	A chronic form of lactic acidemia.	http://purl.obolibrary.org/obo/HP_0004925		
OBO:HP_0004926	Orthostatic hypotension due to autonomic dysfunction	biolink:OntologyClass	hp	UMLS:C1868528		http://purl.obolibrary.org/obo/HP_0004926		
OBO:HP_0004927	Pulmonary artery dilatation	biolink:OntologyClass	hp	SNOMEDCT_US:251047005|UMLS:C0428851	An abnormal widening of the diameter of the pulmonary artery.	http://purl.obolibrary.org/obo/HP_0004927		
OBO:HP_0004928	obsolete Peripheral arterial stenosis	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0004928		
OBO:HP_0004929	obsolete Coronary atherosclerosis	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0004929		
OBO:HP_0004930	Abnormality of the pulmonary vasculature	biolink:OntologyClass	hp	UMLS:C4025271		http://purl.obolibrary.org/obo/HP_0004930		Abnormality of the lung blood vessels
OBO:HP_0004931	Arteriosclerosis of small cerebral arteries	biolink:OntologyClass	hp	UMLS:C4025270|UMLS:C4280505	Arteriosclerosis (increased thickness, increased stiffness, loss of elasticity) of the small arteries of the brain.	http://purl.obolibrary.org/obo/HP_0004931		Hardened artery wall in small cerebral arteries
OBO:HP_0004933	Ascending aortic dissection	biolink:OntologyClass	hp	UMLS:C1836653	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.	http://purl.obolibrary.org/obo/HP_0004933		Type A aortic dissection
OBO:HP_0004934	Vascular calcification	biolink:OntologyClass	hp	MSH:D061205|SNOMEDCT_US:237897009|UMLS:C0342649	Abnormal calcification of the vasculature.	http://purl.obolibrary.org/obo/HP_0004934		
OBO:HP_0004935	Pulmonary artery atresia	biolink:OntologyClass	hp	SNOMEDCT_US:10930001|SNOMEDCT_US:204443008|UMLS:C0265908	A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery.	http://purl.obolibrary.org/obo/HP_0004935		Pulmonary atresia
OBO:HP_0004936	Venous thrombosis	biolink:OntologyClass	hp	MSH:D020246|SNOMEDCT_US:111293003|UMLS:C0042487	Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow.	http://purl.obolibrary.org/obo/HP_0004936		Blood clot in vein
OBO:HP_0004937	Pulmonary artery aneurysm	biolink:OntologyClass	hp	SNOMEDCT_US:194892009|UMLS:C0155676	An aneurysm (severe localized balloon-like outward bulging) in the pulmonary artery.	http://purl.obolibrary.org/obo/HP_0004937		
OBO:HP_0004938	Tortuous cerebral arteries	biolink:OntologyClass	hp	UMLS:C1836791	Excessive bending, twisting, and winding of a cerebral artery.	http://purl.obolibrary.org/obo/HP_0004938		Twisted cerebral arteries
OBO:HP_0004940	Generalized arterial calcification	biolink:OntologyClass	hp	UMLS:C4025269	Calcification, that is, pathological deposition of calcium salts, affecting arteries distributed throughout the body.	http://purl.obolibrary.org/obo/HP_0004940		Generalised arterial calcification
OBO:HP_0004941	Extrahepatic portal hypertension	biolink:OntologyClass	hp	UMLS:C4025268	Increased pressure in the pre-hepatic portal vein.	http://purl.obolibrary.org/obo/HP_0004941		
OBO:HP_0004942	Aortic aneurysm	biolink:OntologyClass	hp	Fyler:2301|Fyler:2708|MSH:D001014|SNOMEDCT_US:67362008|UMLS:C0003486	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.	http://purl.obolibrary.org/obo/HP_0004942		Bulge in wall of large artery that carries blood away from heart|Aortic dilatation
OBO:HP_0004943	Accelerated atherosclerosis	biolink:OntologyClass	hp	UMLS:C1849618|UMLS:C4280504	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.	http://purl.obolibrary.org/obo/HP_0004943		Accelerated plaque build-up in arteries
OBO:HP_0004944	Dilatation of the cerebral artery	biolink:OntologyClass	hp	MSH:D002532|SNOMEDCT_US:128608001|UMLS:C0751003|UMLS:C1290398	The presence of a localized dilatation or ballooning of a cerebral artery.	http://purl.obolibrary.org/obo/HP_0004944		Brain aneurysm|Intracranial aneurysm|Cerebral aneurysm|Cerebral artery aneurysm
OBO:HP_0004945	Extracranial internal carotid artery dissection	biolink:OntologyClass	hp	UMLS:C4025267	A separation (dissection) of the layers of the extracranial portion of the internal carotid artery wall.	http://purl.obolibrary.org/obo/HP_0004945		
OBO:HP_0004947	Arteriovenous fistula	biolink:OntologyClass	hp	MSH:D001164|SNOMEDCT_US:128617001|SNOMEDCT_US:439470001|UMLS:C0003855	An abnormal connection between an artery and vein.	http://purl.obolibrary.org/obo/HP_0004947		Arteriovenous fistulas
OBO:HP_0004948	Vascular tortuosity	biolink:OntologyClass	hp	UMLS:C2673776	Abnormal twisting of arteries or veins.	http://purl.obolibrary.org/obo/HP_0004948		Twisted blood vessels
OBO:HP_0004950	Peripheral arterial stenosis	biolink:OntologyClass	hp	MSH:D016491|MSH:D058729|SNOMEDCT_US:399957001|SNOMEDCT_US:400047006|UMLS:C0085096|UMLS:C1704436	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.	http://purl.obolibrary.org/obo/HP_0004950		Peripheral artery disease|Arterial disease of legs|Occlusive arterial disease|Occlusive vascular disease|Peripheral artery occlusive disease|Peripheral vascular disease
OBO:HP_0004952	Pulmonary arteriovenous fistulas	biolink:OntologyClass	hp	MSH:C562404|SNOMEDCT_US:111289009|UMLS:C0155675	A rare vascular anomaly with a direct communication between pulmonary artery and pulmonary vein without an intervening capillary bed.	http://purl.obolibrary.org/obo/HP_0004952		
OBO:HP_0004953	obsolete Dilatation of abdominal aorta	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0004953		
OBO:HP_0004954	obsolete Dilatation of the descending aorta	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0004954		
OBO:HP_0004955	Generalized arterial tortuosity	biolink:OntologyClass	hp	UMLS:C1836651|UMLS:C3279191	Abnormal tortuous (i.e., twisted) form of arteries affecting most or all arteries.	http://purl.obolibrary.org/obo/HP_0004955		Generalized twisted arteries|Generalised arterial tortuosity|Arterial tortuosity, general|Arterial tortuosity, generalized
OBO:HP_0004959	Descending thoracic aorta aneurysm	biolink:OntologyClass	hp	Fyler:2754|UMLS:C4025266	An abnormal localized widening (dilatation) of the descending thoracic aorta.	http://purl.obolibrary.org/obo/HP_0004959		Dilatation of the descending thoracic aorta
OBO:HP_0004960	Absent pulmonary artery	biolink:OntologyClass	hp	SNOMEDCT_US:86252004|UMLS:C0265905	A congenital defect with aplasia (absence) of one of the right or left pulmonary artery.	http://purl.obolibrary.org/obo/HP_0004960		Absent lung artery|Missing pulmonary artery
OBO:HP_0004961	Pulmonary artery sling	biolink:OntologyClass	hp	UMLS:C1856123	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.	http://purl.obolibrary.org/obo/HP_0004961		
OBO:HP_0004962	Thoracic aorta calcification	biolink:OntologyClass	hp	UMLS:C1969292	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.	http://purl.obolibrary.org/obo/HP_0004962		
OBO:HP_0004963	Calcification of the aorta	biolink:OntologyClass	hp	UMLS:C1096249	Calcification, that is, pathological deposition of calcium salts in the aorta.	http://purl.obolibrary.org/obo/HP_0004963		
OBO:HP_0004964	Pulmonary arterial medial hypertrophy	biolink:OntologyClass	hp	UMLS:C1504382	Increase in mass of the tunica media of the arteries in the pulmonary circulation.	http://purl.obolibrary.org/obo/HP_0004964		Hypertrophy of the pulmonary artery wall
OBO:HP_0004966	Medial calcification of large arteries	biolink:OntologyClass	hp	UMLS:C4025265	Calcification, that is, pathological deposition of calcium salts in the tunica media of large (conduit) arteries.	http://purl.obolibrary.org/obo/HP_0004966		
OBO:HP_0004968	Recurrent cerebral hemorrhage	biolink:OntologyClass	hp	UMLS:C4025264	Recurrent bleeding into the parenchyma of the brain.	http://purl.obolibrary.org/obo/HP_0004968		Recurrent cerebral haemorrhage|Recurrent hemorrhagic stroke
OBO:HP_0004969	Peripheral pulmonary artery stenosis	biolink:OntologyClass	hp	SNOMEDCT_US:253631001|UMLS:C0345030	Stenosis of a peripheral branch of the pulmonary artery.	http://purl.obolibrary.org/obo/HP_0004969		Narrowing of peripheral lung artery|Peripheral pulmonic stenosis|peripheral pulmonary stenosis
OBO:HP_0004970	Ascending tubular aorta aneurysm	biolink:OntologyClass	hp	Fyler:2310|Fyler:2701|SNOMEDCT_US:253645007|UMLS:C0345049	An abnormal localized widening (dilatation) of the tubular part of the ascending aorta.	http://purl.obolibrary.org/obo/HP_0004970		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
OBO:HP_0004971	Pulmonary artery hypoplasia	biolink:OntologyClass	hp	Fyler:2966|SNOMEDCT_US:54682008|UMLS:C0265910	Underdevelopment of the pulmonary artery.	http://purl.obolibrary.org/obo/HP_0004971		Underdeveloped lung artery|Underdeveloped pulmonary artery
OBO:HP_0004972	Elevated mean arterial pressure	biolink:OntologyClass	hp	UMLS:C1840376	An abnormal increase in the average blood pressure in an individual during a single cardiac cycle.	http://purl.obolibrary.org/obo/HP_0004972		
OBO:HP_0004974	Coarctation of abdominal aorta	biolink:OntologyClass	hp	UMLS:C4025263	Coarctation of the aorta is a narrowing or constriction of a segment of the abdominal aorta.	http://purl.obolibrary.org/obo/HP_0004974		
OBO:HP_0004975	Erlenmeyer flask deformity of the femurs	biolink:OntologyClass	hp	UMLS:C1855895	Flaring of distal femur.	http://purl.obolibrary.org/obo/HP_0004975		Erlenmeyer flask shaped thighbone|Erlenmeyer flask deformity of distal femur|Erlenmeyer flask femora
OBO:HP_0004976	Knee dislocation	biolink:OntologyClass	hp	MSH:D031221|SNOMEDCT_US:58320001|UMLS:C0159970		http://purl.obolibrary.org/obo/HP_0004976		Dislocations of the knees|Knee dislocations
OBO:HP_0004977	Bilateral radial aplasia	biolink:OntologyClass	hp	UMLS:C1848840	Missing radius bone on both sides associated with congenital failure of development.	http://purl.obolibrary.org/obo/HP_0004977		Bilateral absence of radius
OBO:HP_0004979	Metaphyseal sclerosis	biolink:OntologyClass	hp	UMLS:C3552526	Abnormally increased density of metaphyseal bone.	http://purl.obolibrary.org/obo/HP_0004979		Increased bone density in wide portion of long bone|Sclerotic metaphyses
OBO:HP_0004980	Metaphyseal rarefaction	biolink:OntologyClass	hp	UMLS:C1832146	Reduction in density of metaphyseal bony tissue.	http://purl.obolibrary.org/obo/HP_0004980		Rarefaction of the metaphyses
OBO:HP_0004981	Prominent styloid process of ulna	biolink:OntologyClass	hp	UMLS:C4025262		http://purl.obolibrary.org/obo/HP_0004981		
OBO:HP_0004986	obsolete Rudimentary to absent fibulae	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0004986		
OBO:HP_0004987	Mesomelic leg shortening	biolink:OntologyClass	hp	UMLS:C1969178	Shortening of the middle parts of the leg in relation to the upper and terminal segments.	http://purl.obolibrary.org/obo/HP_0004987		Mesomelia of the lower limbs|Mesomelic lower limb shortening
OBO:HP_0004990	Epiphyseal streaking	biolink:OntologyClass	hp	UMLS:C1858039		http://purl.obolibrary.org/obo/HP_0004990		
OBO:HP_0004991	Rhizomelic arm shortening	biolink:OntologyClass	hp	UMLS:C1969532	Disproportionate shortening of the proximal segment of the arm (i.e. the humerus).	http://purl.obolibrary.org/obo/HP_0004991		
OBO:HP_0004993	Slender long bones with narrow diaphyses	biolink:OntologyClass	hp	UMLS:C2675547	Reduced diameter of a long bone with a more pronounced reduction of the diameter of the diaphysis of the long bones.	http://purl.obolibrary.org/obo/HP_0004993		Slender long bones with narrow shaft
OBO:HP_0004997	Multicentric ossification of proximal humeral epiphyses	biolink:OntologyClass	hp	UMLS:C1857192		http://purl.obolibrary.org/obo/HP_0004997		
OBO:HP_0005001	Recurrent patellar dislocation	biolink:OntologyClass	hp	SNOMEDCT_US:202246002|UMLS:C0409412	Patellar dislocation occurring repeated times.	http://purl.obolibrary.org/obo/HP_0005001		Recurrent dislocation of patellas
OBO:HP_0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	biolink:OntologyClass	hp	UMLS:C4025261	Absence or underdevelopment of the proximal epiphysis of the femur.	http://purl.obolibrary.org/obo/HP_0005003		Absent/small end part of innermost thighbone|Absent/underdeveloped end part of innermost thighbone
OBO:HP_0005004	Flattened proximal radial epiphyses	biolink:OntologyClass	hp	UMLS:C1849065	An abnormally flat form of the proximal epiphysis of the radius.	http://purl.obolibrary.org/obo/HP_0005004		
OBO:HP_0005005	Femoral bowing present at birth, straightening with time	biolink:OntologyClass	hp	UMLS:C1833754	Congenital onset bending or abnormal curvature of the femur that normalizes with age.	http://purl.obolibrary.org/obo/HP_0005005		Bowing of thighbone at birth, straightening with time
OBO:HP_0005008	Large joint dislocations	biolink:OntologyClass	hp	UMLS:C4025260		http://purl.obolibrary.org/obo/HP_0005008		Large joint dislocations
OBO:HP_0005009	Dumbbell-shaped humerus	biolink:OntologyClass	hp	UMLS:C4025259	The humerus is shortened and displays flaring (widening) of the metaphyses.	http://purl.obolibrary.org/obo/HP_0005009		Dumbbell-shaped long bone in upper arm
OBO:HP_0005010	Osteomyelitis leading to amputation due to slow healing fractures	biolink:OntologyClass	hp	UMLS:C1864975		http://purl.obolibrary.org/obo/HP_0005010		
OBO:HP_0005011	Mesomelic arm shortening	biolink:OntologyClass	hp	UMLS:C1862087	Shortening of the middle parts of the arm in relation to the upper and terminal segments.	http://purl.obolibrary.org/obo/HP_0005011		Mesomelia of the upper limbs|Upper limb brachymesomelia
OBO:HP_0005013	Dysplastic distal radial epiphyses	biolink:OntologyClass	hp	UMLS:C1862131	Abnormally developed (dysplastic) distal epiphysis of the radius.	http://purl.obolibrary.org/obo/HP_0005013		
OBO:HP_0005017	Polyarticular chondrocalcinosis	biolink:OntologyClass	hp	UMLS:C4025258		http://purl.obolibrary.org/obo/HP_0005017		
OBO:HP_0005019	Diaphyseal thickening	biolink:OntologyClass	hp	UMLS:C1835473		http://purl.obolibrary.org/obo/HP_0005019		Thickening of shaft or central part of long bones
OBO:HP_0005021	Bilateral elbow dislocations	biolink:OntologyClass	hp	UMLS:C3278429		http://purl.obolibrary.org/obo/HP_0005021		Dislocated elbows on both sides
OBO:HP_0005025	Hypoplastic distal humeri	biolink:OntologyClass	hp	UMLS:C1968607	Underdevelopment of the distal portion of the humerus.	http://purl.obolibrary.org/obo/HP_0005025		
OBO:HP_0005026	Mesomelic/rhizomelic limb shortening	biolink:OntologyClass	hp	UMLS:C1866239		http://purl.obolibrary.org/obo/HP_0005026		
OBO:HP_0005028	Widened proximal tibial metaphyses	biolink:OntologyClass	hp	UMLS:C1836187		http://purl.obolibrary.org/obo/HP_0005028		Wide innermost wide portion of shankbone bone|Wide innermost wide portion of shinbone bone
OBO:HP_0005033	Distal ulnar hypoplasia	biolink:OntologyClass	hp	UMLS:C1833145	Underdevelopment of the distal portion of the ulna.	http://purl.obolibrary.org/obo/HP_0005033		Distal shortening of ulna|Hypoplastic distal ulna
OBO:HP_0005035	Shortening of all phalanges of the toes	biolink:OntologyClass	hp	UMLS:C4025257	Developmental hypoplasia (shortening) of all phalanges of the foot.	http://purl.obolibrary.org/obo/HP_0005035		Short toe bones
OBO:HP_0005036	Unilateral ulnar hypoplasia	biolink:OntologyClass	hp	UMLS:C1837832	Underdevelopment of the ulna on only one side.	http://purl.obolibrary.org/obo/HP_0005036		
OBO:HP_0005037	Proximal radio-ulnar synostosis	biolink:OntologyClass	hp	UMLS:C2676443	An abnormal osseous union (fusion) between the proximal portions of the radius and the ulna.	http://purl.obolibrary.org/obo/HP_0005037		
OBO:HP_0005039	Multiple long-bone exostoses	biolink:OntologyClass	hp	UMLS:C1835583	Multiple exostoses originating in long bones.	http://purl.obolibrary.org/obo/HP_0005039		Multiple exostoses of long tubular bones
OBO:HP_0005041	Irregular capital femoral epiphysis	biolink:OntologyClass	hp	UMLS:C4020825	Irregular surface of the normally relatively smooth capital femoral epiphysis.	http://purl.obolibrary.org/obo/HP_0005041		Irregular end part of innermost thighbone|Irregular proximal femoral epiphyses|Irregular capital femoral epiphyses
OBO:HP_0005042	Irregular, rachitic-like metaphyses	biolink:OntologyClass	hp	UMLS:C1866700		http://purl.obolibrary.org/obo/HP_0005042		
OBO:HP_0005043	Proximal humeral metaphyseal irregularity	biolink:OntologyClass	hp	UMLS:C1865128	Irregularity of the normally smooth surface of the metaphysis at the proximal end of the humerus (at the shoulder).	http://purl.obolibrary.org/obo/HP_0005043		Irregular proximal humeral metaphyses
OBO:HP_0005045	Diaphyseal cortical sclerosis	biolink:OntologyClass	hp	UMLS:C1833739	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.	http://purl.obolibrary.org/obo/HP_0005045		
OBO:HP_0005048	Synostosis of carpal bones	biolink:OntologyClass	hp	UMLS:C1836193		http://purl.obolibrary.org/obo/HP_0005048		Fusion of wrist bones
OBO:HP_0005050	Anterolateral radial head dislocation	biolink:OntologyClass	hp	UMLS:C1968610	A dislocation of the head of the radius from its socket in the elbow joint in an anterolateral direction.	http://purl.obolibrary.org/obo/HP_0005050		Anterior/lateral radial head dislocation
OBO:HP_0005054	Metaphyseal spurs	biolink:OntologyClass	hp	UMLS:C1832988	Bony outgrowths that extend laterally from the margin of the metaphysis.	http://purl.obolibrary.org/obo/HP_0005054		
OBO:HP_0005059	Arthralgia/arthritis	biolink:OntologyClass	hp	UMLS:C4025256		http://purl.obolibrary.org/obo/HP_0005059		Joint pain/Joint inflammation
OBO:HP_0005060	Limited elbow flexion/extension	biolink:OntologyClass	hp	UMLS:C1968605		http://purl.obolibrary.org/obo/HP_0005060		
OBO:HP_0005063	Fragmented, irregular epiphyses	biolink:OntologyClass	hp	UMLS:C1867494		http://purl.obolibrary.org/obo/HP_0005063		Fragmented, irregular end part of bone
OBO:HP_0005066	Cone-shaped epiphyses fused within their metaphyses	biolink:OntologyClass	hp	UMLS:C4025255		http://purl.obolibrary.org/obo/HP_0005066		Cone-shaped end part of long bone fused within their wide portion of wide bone
OBO:HP_0005067	Proximal fibular overgrowth	biolink:OntologyClass	hp	UMLS:C2673395	Overgrowth of the proximal part of the fibula.	http://purl.obolibrary.org/obo/HP_0005067		Overgrowth of innermost part of calf bone
OBO:HP_0005068	Absent styloid process of ulna	biolink:OntologyClass	hp	UMLS:C4025254		http://purl.obolibrary.org/obo/HP_0005068		
OBO:HP_0005069	Rhizo-meso-acromelic limb shortening	biolink:OntologyClass	hp	UMLS:C2673654		http://purl.obolibrary.org/obo/HP_0005069		
OBO:HP_0005070	Proximal radial head dislocation	biolink:OntologyClass	hp	UMLS:C1865570	A dislocation of the head of the radius from its socket in the elbow joint in an proximal direction.	http://purl.obolibrary.org/obo/HP_0005070		
OBO:HP_0005072	Hyperextensibility at wrists	biolink:OntologyClass	hp	UMLS:C1850853	The ability of the wrist joints to move beyond their normal range of motion.	http://purl.obolibrary.org/obo/HP_0005072		Increased wrist mobility|Increased laxity of wrists
OBO:HP_0005084	Anterior radial head dislocation	biolink:OntologyClass	hp	UMLS:C2674451	A dislocation of the head of the radius from its socket in the elbow joint in an anterior direction.	http://purl.obolibrary.org/obo/HP_0005084		Anterior dislocation of radial head
OBO:HP_0005085	Limited knee flexion/extension	biolink:OntologyClass	hp	UMLS:C1968606	A limited ability of the knee joint to perform extension and flexion.	http://purl.obolibrary.org/obo/HP_0005085		
OBO:HP_0005086	Knee osteoarthritis	biolink:OntologyClass	hp	MSH:D020370|SNOMEDCT_US:239873007|UMLS:C0409959		http://purl.obolibrary.org/obo/HP_0005086		
OBO:HP_0005089	Abnormal metaphyseal trabeculation	biolink:OntologyClass	hp	UMLS:C1857139	An abnormality of the pattern of trabecula (small interconnecting rods of bone) in a metaphyseal region of bone.	http://purl.obolibrary.org/obo/HP_0005089		
OBO:HP_0005090	Lateral femoral bowing	biolink:OntologyClass	hp	UMLS:C1866737	A lateral bending or abnormal curvature of the femur.	http://purl.obolibrary.org/obo/HP_0005090		
OBO:HP_0005092	Streaky metaphyseal sclerosis	biolink:OntologyClass	hp	UMLS:C4025253	The presence of streaks (bands) of abnormally increased density of metaphyseal bone.	http://purl.obolibrary.org/obo/HP_0005092		Streak increase in bone density in wide portion of wide bone
OBO:HP_0005093	Absent proximal radial epiphyses	biolink:OntologyClass	hp	UMLS:C1855301	Absence of the proximal radial epiphysis.	http://purl.obolibrary.org/obo/HP_0005093		
OBO:HP_0005096	Distal femoral bowing	biolink:OntologyClass	hp	UMLS:C1860107	A bending or abnormal curvature of the distal portion of the femur.	http://purl.obolibrary.org/obo/HP_0005096		
OBO:HP_0005099	Severe hydrops fetalis	biolink:OntologyClass	hp	UMLS:C1866048		http://purl.obolibrary.org/obo/HP_0005099		Severe hydrops
OBO:HP_0005100	Premature birth following premature rupture of fetal membranes	biolink:OntologyClass	hp	UMLS:C1851833		http://purl.obolibrary.org/obo/HP_0005100		Premature birth following premature rupture of foetal membranes
OBO:HP_0005101	High-frequency hearing impairment	biolink:OntologyClass	hp	MSH:D006316|SNOMEDCT_US:232326009|SNOMEDCT_US:48758008|UMLS:C0018780	A type of hearing impairment affecting primarily the higher frequencies of sound (3,000 to 6,000 Hz).	http://purl.obolibrary.org/obo/HP_0005101		Hearing loss, high-frequency|High frequency hearing loss|Progressive high frequency hearing loss|High-frequency deafness|Progressive high-frequency hearing loss
OBO:HP_0005102	Cochlear degeneration	biolink:OntologyClass	hp	UMLS:C1849095	Deterioration or loss of the tissues of the cochlea.	http://purl.obolibrary.org/obo/HP_0005102		Progressive cochlear degeneration
OBO:HP_0005103	Calcification of the auricular cartilage	biolink:OntologyClass	hp	UMLS:C1408806	Ossification affecting the external ear cartilage.	http://purl.obolibrary.org/obo/HP_0005103		Cartilaginous ossification of pinnae|Ossification of pinnae|Petrified ear|Ear cartilage calcification
OBO:HP_0005104	Hypoplastic nasal septum	biolink:OntologyClass	hp	UMLS:C1861328	Underdevelopment of the nasal septum.	http://purl.obolibrary.org/obo/HP_0005104		Decreased size of nasal septum|Decreased size of septum of nose|Small nasal septum|Small septum of nose|Hypoplasia of septum of nose
OBO:HP_0005105	Abnormal nasal morphology	biolink:OntologyClass	hp	Fyler:4870|UMLS:C4025252		http://purl.obolibrary.org/obo/HP_0005105		Abnormal of nasal shape|Abnormal of shape of nose|Abnormal nose morphology|Abnormal of morphology of nose
OBO:HP_0005106	Abnormality of the vertebral endplates	biolink:OntologyClass	hp	UMLS:C4025251	Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral discs.	http://purl.obolibrary.org/obo/HP_0005106		
OBO:HP_0005107	Abnormal sacrum morphology	biolink:OntologyClass	hp	UMLS:C4025250	An abnormality of the sacral bone.	http://purl.obolibrary.org/obo/HP_0005107	hposlim_core	Abnormality of the sacrum
OBO:HP_0005108	Abnormality of the intervertebral disk	biolink:OntologyClass	hp	UMLS:C4025249	An abnormality of the intervertebral disk.	http://purl.obolibrary.org/obo/HP_0005108	hposlim_core	Abnormality of the intervertebral disc
OBO:HP_0005109	Abnormality of the Achilles tendon	biolink:OntologyClass	hp	UMLS:C4021642	An abnormality of the Achilles tendon.	http://purl.obolibrary.org/obo/HP_0005109		Abnormality of the Achilles tendon|Abnormality of the calcaneal tendon
OBO:HP_0005110	Atrial fibrillation	biolink:OntologyClass	hp	MSH:D001281|SNOMEDCT_US:49436004|UMLS:C0004238	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.	http://purl.obolibrary.org/obo/HP_0005110		Quivering upper heart chambers resulting in irregular heartbeat
OBO:HP_0005111	obsolete Dilatation of the ascending aorta	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0005111		
OBO:HP_0005112	Abdominal aortic aneurysm	biolink:OntologyClass	hp	UMLS:C4025248	An abnormal localized widening (dilatation) of the abdominal aorta.	http://purl.obolibrary.org/obo/HP_0005112		Dilatation of the abdominal aorta
OBO:HP_0005113	Aortic arch aneurysm	biolink:OntologyClass	hp	Fyler:2706|UMLS:C1851119	An abnormal localized widening (dilatation) of the aortic arch.	http://purl.obolibrary.org/obo/HP_0005113		Aortic arch dilatation|Dilatation of the aortic arch
OBO:HP_0005114	obsolete Abnormalities of the peripheral arteries	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0005114		
OBO:HP_0005115	Supraventricular arrhythmia	biolink:OntologyClass	hp	SNOMEDCT_US:72654001|UMLS:C0428974	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.	http://purl.obolibrary.org/obo/HP_0005115		arrhythmias, Supraventricular
OBO:HP_0005116	Arterial tortuosity	biolink:OntologyClass	hp	UMLS:C3279191	Abnormal tortuous (i.e., twisted) form of arteries.	http://purl.obolibrary.org/obo/HP_0005116		
OBO:HP_0005117	Elevated diastolic blood pressure	biolink:OntologyClass	hp	UMLS:C1840375	Abnormal increase in diastolic blood pressure.	http://purl.obolibrary.org/obo/HP_0005117		Elevated diastolic BP
OBO:HP_0005120	Abnormal cardiac atrium morphology	biolink:OntologyClass	hp	UMLS:C4025246	Any structural abnormality of a cardiac atrium.	http://purl.obolibrary.org/obo/HP_0005120		Abnormality of heart atrium|Abnormality of cardiac atrium morphology
OBO:HP_0005121	Posterior scalloping of vertebral bodies	biolink:OntologyClass	hp	UMLS:C1850196	An excessive concavity of the posterior surface of one or more vertebral bodies.	http://purl.obolibrary.org/obo/HP_0005121		Posterior vertebral body scalloping
OBO:HP_0005129	Congenital hypertrophy of left ventricle	biolink:OntologyClass	hp	UMLS:C1855901		http://purl.obolibrary.org/obo/HP_0005129		
OBO:HP_0005130	obsolete Restrictive heart failure	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0005130		
OBO:HP_0005132	Pericardial constriction	biolink:OntologyClass	hp	UMLS:C0240709	Compression of the heart caused by rigid, thickened, or fused pericardial membranes.	http://purl.obolibrary.org/obo/HP_0005132		
OBO:HP_0005133	Right ventricular dilatation	biolink:OntologyClass	hp	Fyler:1827|Fyler:2333|SNOMEDCT_US:253522006|UMLS:C0344893	Enlargement of the chamber of the right ventricle.	http://purl.obolibrary.org/obo/HP_0005133		Dilated heart right ventricle
OBO:HP_0005134	Absence of the pulmonary valve	biolink:OntologyClass	hp	SNOMEDCT_US:6996004|UMLS:C0265831	Refers to the specific combination of defects with a severely dysplastic pulmonary valve and massively dilated branch pulmonary arteries.	http://purl.obolibrary.org/obo/HP_0005134		Absent pulmonary valve
OBO:HP_0005135	Abnormal T-wave	biolink:OntologyClass	hp	UMLS:C4025245	An abnormality of the T wave on the electrocardiogram, which mainly represents the repolarization of the ventricles.	http://purl.obolibrary.org/obo/HP_0005135		EKG: T-wave abnormalities|T-wave abnormalities
OBO:HP_0005136	Mitral annular calcification	biolink:OntologyClass	hp	UMLS:C1835130	Mitral annular calcification (MAC) results from progressive calcium deposition along and beneath the mitral valve annulus.	http://purl.obolibrary.org/obo/HP_0005136		Premature calcification of mitral annulus
OBO:HP_0005141	obsolete Episodes of ventricular tachycardia	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0005141		
OBO:HP_0005143	Anomalous origin of right pulmonary artery from ascending aorta	biolink:OntologyClass	hp	SNOMEDCT_US:253634009|UMLS:C0345037	The right pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery.	http://purl.obolibrary.org/obo/HP_0005143		
OBO:HP_0005144	Ventricular septal hypertrophy	biolink:OntologyClass	hp	UMLS:C1845019	The dividing wall between left and right sides of the heart, thickens and bulges into the left ventricle.	http://purl.obolibrary.org/obo/HP_0005144		Thickened interventricular septum
OBO:HP_0005145	Coronary artery stenosis	biolink:OntologyClass	hp	MSH:D023921|SNOMEDCT_US:233970002|UMLS:C0242231	Abnormal narrowing of the coronary artery.	http://purl.obolibrary.org/obo/HP_0005145		Narrowing of coronary artery
OBO:HP_0005146	Cardiac valve calcification	biolink:OntologyClass	hp	UMLS:C1856483	Abnormal calcification of a cardiac valve.	http://purl.obolibrary.org/obo/HP_0005146		Calcifications of the cardiac valves
OBO:HP_0005147	Bidirectional ventricular ectopy	biolink:OntologyClass	hp	UMLS:C1969410		http://purl.obolibrary.org/obo/HP_0005147		
OBO:HP_0005148	Pulmonary valve defects	biolink:OntologyClass	hp	UMLS:C1860165	Any defect in the valve connecting the heart and the pulmonary artery.	http://purl.obolibrary.org/obo/HP_0005148		
OBO:HP_0005150	Abnormal atrioventricular conduction	biolink:OntologyClass	hp	UMLS:C4025244	An impairment of the electrical continuity between the atria and ventricles.	http://purl.obolibrary.org/obo/HP_0005150		
OBO:HP_0005151	Preductal coarctation of the aorta	biolink:OntologyClass	hp	SNOMEDCT_US:13867009|UMLS:C0265878	Narrowing or constriction of the aorta localized proximal to the ductus arteriosus, i.e., to the preductal region of aortic arch.	http://purl.obolibrary.org/obo/HP_0005151		Proximal aortic coarctation
OBO:HP_0005152	Histiocytoid cardiomyopathy	biolink:OntologyClass	hp	MSH:C535584|UMLS:C1708371	A type of cardiomyopathy characterized pathologically by hamartomatous lesions of cardiac Purkinje cells.	http://purl.obolibrary.org/obo/HP_0005152		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
OBO:HP_0005155	Ventricular escape rhythm	biolink:OntologyClass	hp	SNOMEDCT_US:81898007|UMLS:C0232216	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).	http://purl.obolibrary.org/obo/HP_0005155		Idioventricular escape rhythm
OBO:HP_0005156	Hypoplastic left atrium	biolink:OntologyClass	hp	Fyler:3040|UMLS:C1970625	Underdeveloped, small left heart atrium	http://purl.obolibrary.org/obo/HP_0005156		Left atrium hypoplasia|Underdeveloped left heart atrium
OBO:HP_0005157	Concentric hypertrophic cardiomyopathy	biolink:OntologyClass	hp	UMLS:C0238044	Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy.	http://purl.obolibrary.org/obo/HP_0005157		Symmetric, concentric, hypertrophic cardiomyopathy
OBO:HP_0005160	Total anomalous pulmonary venous return	biolink:OntologyClass	hp	Fyler:0900|Fyler:900|MSH:D012587|SNOMEDCT_US:111323005|SNOMEDCT_US:39905002|UMLS:C0036400	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.	http://purl.obolibrary.org/obo/HP_0005160		Total anomalous pulmonary venous connection|Total anomalous pulmonary venous drainage
OBO:HP_0005162	Abnormal left ventricular function	biolink:OntologyClass	hp	MSH:D006333|SNOMEDCT_US:275514001|SNOMEDCT_US:85232009|UMLS:C0023212|UMLS:C0553982	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.	http://purl.obolibrary.org/obo/HP_0005162		Impaired left ventricular function|Left ventricular dysfunction|Left ventricular failure|Left ventricular impairment|Left-sided heart failure
OBO:HP_0005164	Dysplastic pulmonary valve	biolink:OntologyClass	hp	UMLS:C1866206	A congenital malformation of the pulmonary valve characterized by leaflet deformation.	http://purl.obolibrary.org/obo/HP_0005164		
OBO:HP_0005165	Shortened PR interval	biolink:OntologyClass	hp	SNOMEDCT_US:49578007|UMLS:C0520878	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.	http://purl.obolibrary.org/obo/HP_0005165		Electrocardiographic short PR interval|Short P-R interval|Shortened PR interval on EKG
OBO:HP_0005168	Elevated right atrial pressure	biolink:OntologyClass	hp	UMLS:C1867421	An abnormal increase in magnitude of the pressure in the right atrium.	http://purl.obolibrary.org/obo/HP_0005168		
OBO:HP_0005170	Complete heart block with broad QRS complexes	biolink:OntologyClass	hp	UMLS:C1861987	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.	http://purl.obolibrary.org/obo/HP_0005170		
OBO:HP_0005172	Left posterior fascicular block	biolink:OntologyClass	hp	SNOMEDCT_US:62026008|UMLS:C0264913	Conduction block in the posterior division of the left bundle branch of the bundle of His.	http://purl.obolibrary.org/obo/HP_0005172		Left posterior hemiblock
OBO:HP_0005173	obsolete Calcific aortic valve stenosis	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0005173		
OBO:HP_0005174	Membranous subvalvular aortic stenosis	biolink:OntologyClass	hp	UMLS:C1848978	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.	http://purl.obolibrary.org/obo/HP_0005174		
OBO:HP_0005176	Dysplastic aortic valve	biolink:OntologyClass	hp	UMLS:C1866207	A congenital malformation of the aortic valve characterized by leaflet deformation.	http://purl.obolibrary.org/obo/HP_0005176		
OBO:HP_0005177	Premature arteriosclerosis	biolink:OntologyClass	hp	UMLS:C1848486|UMLS:C4280503	Arteriosclerosis occurring at an age that is younger than usual.	http://purl.obolibrary.org/obo/HP_0005177		Premature hardening of arteries
OBO:HP_0005178	Complete heart block with narrow QRS complexes	biolink:OntologyClass	hp	UMLS:C1841661	A type of third degree heart block in which the escape rhythm arises at the atrioventricular node, which produces a narrow QRS complex.	http://purl.obolibrary.org/obo/HP_0005178		
OBO:HP_0005180	Tricuspid regurgitation	biolink:OntologyClass	hp	Fyler:1161|MSH:D014262|SNOMEDCT_US:111287006|UMLS:C0040961	Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium.	http://purl.obolibrary.org/obo/HP_0005180		Tricuspid insufficiency|Tricuspid valve regurgitation
OBO:HP_0005181	Premature coronary artery atherosclerosis	biolink:OntologyClass	hp	UMLS:C1867743	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.	http://purl.obolibrary.org/obo/HP_0005181		Premature coronary artery disease
OBO:HP_0005182	Bicuspid pulmonary valve	biolink:OntologyClass	hp	Fyler:1601|SNOMEDCT_US:253599005|UMLS:C0344987	The presence of a bicuspid pulmonary valve.	http://purl.obolibrary.org/obo/HP_0005182		
OBO:HP_0005183	Pericardial lymphangiectasia	biolink:OntologyClass	hp	UMLS:C1856140	An abnormal dilatation of lymph vessels in the pericardium.	http://purl.obolibrary.org/obo/HP_0005183		
OBO:HP_0005184	Prolonged QTc interval	biolink:OntologyClass	hp	UMLS:C1560305	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.	http://purl.obolibrary.org/obo/HP_0005184		
OBO:HP_0005185	Global systolic dysfunction	biolink:OntologyClass	hp	UMLS:C1847397	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.	http://purl.obolibrary.org/obo/HP_0005185		
OBO:HP_0005186	Synovial hypertrophy	biolink:OntologyClass	hp	MSH:D013585|SNOMEDCT_US:240206002|UMLS:C0410574		http://purl.obolibrary.org/obo/HP_0005186		
OBO:HP_0005187	Progressive joint destruction	biolink:OntologyClass	hp	UMLS:C4025243		http://purl.obolibrary.org/obo/HP_0005187		
OBO:HP_0005190	Proximal finger joint hyperextensibility	biolink:OntologyClass	hp	UMLS:C4025242		http://purl.obolibrary.org/obo/HP_0005190		
OBO:HP_0005191	Congenital knee dislocation	biolink:OntologyClass	hp	SNOMEDCT_US:59068006|UMLS:C0265669		http://purl.obolibrary.org/obo/HP_0005191		Dislocated knee since birth
OBO:HP_0005193	Restricted large joint movement	biolink:OntologyClass	hp	UMLS:C4025241		http://purl.obolibrary.org/obo/HP_0005193		
OBO:HP_0005194	Flattened metatarsal heads	biolink:OntologyClass	hp	UMLS:C4025240	Abnormally flat shape of the heads of the metatarsal bones.	http://purl.obolibrary.org/obo/HP_0005194		Flattened head of long bone of foot
OBO:HP_0005195	Polyarticular arthropathy	biolink:OntologyClass	hp	UMLS:C4025239		http://purl.obolibrary.org/obo/HP_0005195		
OBO:HP_0005197	Generalized morning stiffness	biolink:OntologyClass	hp	UMLS:C4025238	A sensation of stiffness in the joints that occurs following waking up in the morning.	http://purl.obolibrary.org/obo/HP_0005197		Generalised morning stiffness
OBO:HP_0005198	Stiff interphalangeal joints	biolink:OntologyClass	hp	UMLS:C4025237	Interphalangeal joint stiffness is a perceived sensation of tightness in the interphalangeal joints when attempting to move them after a period of inactivity.	http://purl.obolibrary.org/obo/HP_0005198		Stiff hinge joints
OBO:HP_0005199	Aplasia of the abdominal wall musculature	biolink:OntologyClass	hp	UMLS:C3149223	Absence of the abdominal musculature.	http://purl.obolibrary.org/obo/HP_0005199		Absent abdominal musculature
OBO:HP_0005200	Retroperitoneal fibrosis	biolink:OntologyClass	hp	MSH:D012185|SNOMEDCT_US:49120005|UMLS:C0035357		http://purl.obolibrary.org/obo/HP_0005200		
OBO:HP_0005201	Anomalous splenoportal venous system	biolink:OntologyClass	hp	UMLS:C4025236		http://purl.obolibrary.org/obo/HP_0005201		
OBO:HP_0005202	Helicobacter pylori infection	biolink:OntologyClass	hp	UMLS:C0850666	A recurrent infection of the GI tract with helicobacter pylori, a gram-negative, microaerophilic bacterium usually found in the stomach.	http://purl.obolibrary.org/obo/HP_0005202		
OBO:HP_0005203	Spontaneous esophageal perforation	biolink:OntologyClass	hp	MSH:C536571|SNOMEDCT_US:19995004|UMLS:C0238115	The occurrence of the full-thickness tear (perforation) of the wall of the esophagus.	http://purl.obolibrary.org/obo/HP_0005203		Spontaneous esophageal rupture|Boerhaave syndrome
OBO:HP_0005206	Pancreatic pseudocyst	biolink:OntologyClass	hp	MSH:D010192|SNOMEDCT_US:111374002|UMLS:C0030299	Cyst-like space not lined by epithelium and contained within the pancreas. Pancreatic pseudocysts are often associated with pancreatitis.	http://purl.obolibrary.org/obo/HP_0005206		
OBO:HP_0005207	Gastric hypertrophy	biolink:OntologyClass	hp	UMLS:C1834341|UMLS:C4280502	Hypertrophy of the stomach.	http://purl.obolibrary.org/obo/HP_0005207		Increased stomach size
OBO:HP_0005208	Secretory diarrhea	biolink:OntologyClass	hp	SNOMEDCT_US:15699003|UMLS:C0267557	Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption.	http://purl.obolibrary.org/obo/HP_0005208		Secretory diarrhoea
OBO:HP_0005209	Intrahepatic bile duct cysts	biolink:OntologyClass	hp	SNOMEDCT_US:235925007|UMLS:C0400991	The presence of cyst of the intrahepatic bile duct.	http://purl.obolibrary.org/obo/HP_0005209		
OBO:HP_0005210	Hypoplastic colon	biolink:OntologyClass	hp	UMLS:C1392839	Underdevelopment of the colon.	http://purl.obolibrary.org/obo/HP_0005210		Hypoplasia of the colon|Underdeveloped colon
OBO:HP_0005211	Midgut malrotation	biolink:OntologyClass	hp	UMLS:C1849706		http://purl.obolibrary.org/obo/HP_0005211		
OBO:HP_0005212	Anal mucosal leukoplakia	biolink:OntologyClass	hp	UMLS:C1844632	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.	http://purl.obolibrary.org/obo/HP_0005212		
OBO:HP_0005213	Pancreatic calcification	biolink:OntologyClass	hp	UMLS:C1842406	The presence of abnormal calcium deposition lesions in the pancreas.	http://purl.obolibrary.org/obo/HP_0005213		Pancreatic calcifications
OBO:HP_0005214	Intestinal obstruction	biolink:OntologyClass	hp	MSH:D007415|SNOMEDCT_US:81060008|UMLS:C0021843	Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal.	http://purl.obolibrary.org/obo/HP_0005214		Bowel obstruction|Intestinal blockage|Intestinal obstruction
OBO:HP_0005215	Frequent Giardia lamblia infestation	biolink:OntologyClass	hp	UMLS:C4025235	Increased susceptibility to Giardia lamblia infection of the intestine, as manifested by a medical history of multiple episodes of Giardia lamblia intestinal infection.	http://purl.obolibrary.org/obo/HP_0005215		
OBO:HP_0005216	Impaired mastication	biolink:OntologyClass	hp	SNOMEDCT_US:162020001|UMLS:C0239043	An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing.	http://purl.obolibrary.org/obo/HP_0005216		Chewing difficulties|Chewing difficulty|Difficulty chewing
OBO:HP_0005217	Duplication of internal organs	biolink:OntologyClass	hp	UMLS:C4025234		http://purl.obolibrary.org/obo/HP_0005217		
OBO:HP_0005218	Anoperineal fistula	biolink:OntologyClass	hp	UMLS:C1835798	The presence of a fistula (abnormal tunnel) between the anal canal and the perineum.	http://purl.obolibrary.org/obo/HP_0005218		Perianal fistula
OBO:HP_0005219	Absence of intrinsic factor	biolink:OntologyClass	hp	UMLS:C4021641	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.	http://purl.obolibrary.org/obo/HP_0005219		Intrinsic factor absent from gastric juice
OBO:HP_0005220	Multiple intestinal neurofibromatosis	biolink:OntologyClass	hp	UMLS:C4025233		http://purl.obolibrary.org/obo/HP_0005220		
OBO:HP_0005222	Bowel diverticulosis	biolink:OntologyClass	hp	UMLS:C1394691|UMLS:C1395674	The presence of multiple diverticula of the intestine.	http://purl.obolibrary.org/obo/HP_0005222		Bowel diverticula
OBO:HP_0005223	Duplicated colon	biolink:OntologyClass	hp	UMLS:C1850328		http://purl.obolibrary.org/obo/HP_0005223		
OBO:HP_0005224	Rectal abscess	biolink:OntologyClass	hp	SNOMEDCT_US:197166005|SNOMEDCT_US:91669008|UMLS:C0149770|UMLS:C0267566	A collection of pus in the area of the rectum.	http://purl.obolibrary.org/obo/HP_0005224		Perirectal abscess
OBO:HP_0005225	Intestinal edema	biolink:OntologyClass	hp	UMLS:C1142262	Accumulation of cell free, noninflammatony fluid within the wall of the intestinal tract producing uniform thickening of the mucosal folds.	http://purl.obolibrary.org/obo/HP_0005225		Intestinal oedema
OBO:HP_0005227	Adenomatous colonic polyposis	biolink:OntologyClass	hp	MEDDRA:10056981|UMLS:C1868071	Presence of multiple adenomatous polyps in the colon.	http://purl.obolibrary.org/obo/HP_0005227		Multiple adenomatous colon polyps|Multiple colonic adenomatous polyps
OBO:HP_0005229	Jejunoileal ulceration	biolink:OntologyClass	hp	UMLS:C4025232		http://purl.obolibrary.org/obo/HP_0005229		
OBO:HP_0005230	Biliary tract obstruction	biolink:OntologyClass	hp	SNOMEDCT_US:235918000|UMLS:C0400979	Obstruction affecting the biliary tree.	http://purl.obolibrary.org/obo/HP_0005230		
OBO:HP_0005231	Chronic gastritis	biolink:OntologyClass	hp	SNOMEDCT_US:8493009|UMLS:C0085695	A chronic form of gastritis.	http://purl.obolibrary.org/obo/HP_0005231		
OBO:HP_0005232	Pancreatic dysplasia	biolink:OntologyClass	hp	UMLS:C4019084	The presence of developmental dysplasia of the pancreas.	http://purl.obolibrary.org/obo/HP_0005232		
OBO:HP_0005233	Hypoplasia of the gallbladder	biolink:OntologyClass	hp	SNOMEDCT_US:93259002|UMLS:C0345282	The presence of a hypoplastic gallbladder.	http://purl.obolibrary.org/obo/HP_0005233		Hypoplastic gallbladder
OBO:HP_0005234	Neonatal intestinal obstruction	biolink:OntologyClass	hp	UMLS:C0859974		http://purl.obolibrary.org/obo/HP_0005234		
OBO:HP_0005235	Jejunal atresia	biolink:OntologyClass	hp	MSH:D007409|SNOMEDCT_US:204702007|SNOMEDCT_US:360491009|UMLS:C0266175	A developmental defect resulting in abnormal closure, or atresia of the tubular structure of the jejunum.	http://purl.obolibrary.org/obo/HP_0005235		
OBO:HP_0005236	Chronic calcifying pancreatitis	biolink:OntologyClass	hp	UMLS:C4025231	A form of chronic pancreatitis that is characterized by calcification.	http://purl.obolibrary.org/obo/HP_0005236		
OBO:HP_0005237	Degenerative liver disease	biolink:OntologyClass	hp	UMLS:C4025230	The presence of degenerative changes of the liver.	http://purl.obolibrary.org/obo/HP_0005237		
OBO:HP_0005238	Discrete intestinal polyps	biolink:OntologyClass	hp	UMLS:C4025229		http://purl.obolibrary.org/obo/HP_0005238		
OBO:HP_0005240	Esophageal obstruction	biolink:OntologyClass	hp	SNOMEDCT_US:405247003|UMLS:C0239296		http://purl.obolibrary.org/obo/HP_0005240		
OBO:HP_0005241	Total intestinal aganglionosis	biolink:OntologyClass	hp	MSH:C538058|SNOMEDCT_US:204745000|UMLS:C0345240	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.	http://purl.obolibrary.org/obo/HP_0005241		
OBO:HP_0005242	Extrahepatic biliary duct atresia	biolink:OntologyClass	hp	MSH:D001656|SNOMEDCT_US:77480004|SNOMEDCT_US:82821008|UMLS:C0005411	Atresia in the extrahepatic bile duct.	http://purl.obolibrary.org/obo/HP_0005242		Biliary atresia, extrahepatic
OBO:HP_0005243	Partial abdominal muscle agenesis	biolink:OntologyClass	hp	UMLS:C4025228	Failure to form of portions of the abdominal musculature.	http://purl.obolibrary.org/obo/HP_0005243		
OBO:HP_0005244	Gastrointestinal infarctions	biolink:OntologyClass	hp	UMLS:C3152231		http://purl.obolibrary.org/obo/HP_0005244		GI infarctions|Death of digestive organ tissue due to poor blood supply
OBO:HP_0005245	Intestinal hypoplasia	biolink:OntologyClass	hp	UMLS:C4021640	Developmental hypoplasia of the intestine.	http://purl.obolibrary.org/obo/HP_0005245		Underdeveloped instestine|Hypoplastic intestines
OBO:HP_0005246	Giant hypertrophic gastritis	biolink:OntologyClass	hp	MSH:D005758|SNOMEDCT_US:413219009|SNOMEDCT_US:60002000|UMLS:C0017155	A type of gastritis characterized by excessive proliferation of the gastric mucosa and diffuse thickening of the gastric mucosal folds.	http://purl.obolibrary.org/obo/HP_0005246		Menetrier disease
OBO:HP_0005247	Hypoplasia of the abdominal wall musculature	biolink:OntologyClass	hp	UMLS:C3279407	Underdevelopment of the abdominal musculature.	http://purl.obolibrary.org/obo/HP_0005247		Abdominal muscular hypoplasia
OBO:HP_0005248	Intrahepatic biliary atresia	biolink:OntologyClass	hp	UMLS:C1855284	Atresia in the intrahepatic bile duct.	http://purl.obolibrary.org/obo/HP_0005248		Bile duct paucity|Intrahepatic atresia of biliary duct
OBO:HP_0005249	Functional intestinal obstruction	biolink:OntologyClass	hp	UMLS:C3639956		http://purl.obolibrary.org/obo/HP_0005249		
OBO:HP_0005250	High intestinal obstruction	biolink:OntologyClass	hp	UMLS:C4025227		http://purl.obolibrary.org/obo/HP_0005250		
OBO:HP_0005253	Increased anterioposterior diameter of thorax	biolink:OntologyClass	hp	UMLS:C1848760		http://purl.obolibrary.org/obo/HP_0005253		Increased anterioposterior diameter of chest
OBO:HP_0005254	Unilateral chest hypoplasia	biolink:OntologyClass	hp	UMLS:C1845576		http://purl.obolibrary.org/obo/HP_0005254		Small chest on one side|Underdeveloped chest on one side
OBO:HP_0005255	Absence of pectoralis minor muscle	biolink:OntologyClass	hp	UMLS:C1868158	Aplasia (congenital absence) of the pectoralis minor.	http://purl.obolibrary.org/obo/HP_0005255		Pectoralis minor aplasia
OBO:HP_0005256	Unilateral absence of pectoralis major muscle	biolink:OntologyClass	hp	UMLS:C4021639	Aplasia (congenital absence) of the pectoralis minor on only one side of the chest.	http://purl.obolibrary.org/obo/HP_0005256		Unilateral aplasia of pectoralis major muscle
OBO:HP_0005257	Thoracic hypoplasia	biolink:OntologyClass	hp	UMLS:C1837482		http://purl.obolibrary.org/obo/HP_0005257		Small chest|Small thorax
OBO:HP_0005258	Pectoral muscle hypoplasia/aplasia	biolink:OntologyClass	hp	UMLS:C4025226		http://purl.obolibrary.org/obo/HP_0005258		Small/absent pec muscle|Underdeveloped/absent pec muscle
OBO:HP_0005259	Abnormal facility in opposing the shoulders	biolink:OntologyClass	hp	UMLS:C1861517		http://purl.obolibrary.org/obo/HP_0005259		
OBO:HP_0005261	Joint hemorrhage	biolink:OntologyClass	hp	MSH:D006395|SNOMEDCT_US:81808003|UMLS:C0018924	Hemorrhage occurring within a joint.	http://purl.obolibrary.org/obo/HP_0005261		Bleeding within a joint|Hemarthrosis|Hemarthroses|Joint haemorrhage|Spontaneous joint hemorrhage
OBO:HP_0005262	Abnormality of the synovia	biolink:OntologyClass	hp	UMLS:C4025225		http://purl.obolibrary.org/obo/HP_0005262		
OBO:HP_0005263	Gastritis	biolink:OntologyClass	hp	MEDDRA:10017853|MSH:D005756|SNOMEDCT_US:4556007|UMLS:C0017152	The presence of inflammation of the gastric mucous membrane.	http://purl.obolibrary.org/obo/HP_0005263	hposlim_core	Stomach inflammation
OBO:HP_0005264	Abnormality of the gallbladder	biolink:OntologyClass	hp	SNOMEDCT_US:253803008|SNOMEDCT_US:49714001|UMLS:C0266249	An abnormality of the gallbladder.	http://purl.obolibrary.org/obo/HP_0005264		Abnormality of the gallbladder|Anomaly of the gallbladder
OBO:HP_0005265	Abnormal jejunum morphology	biolink:OntologyClass	hp	UMLS:C4025224	An abnormality of the jejunum, i.e., of the middle section of the small intestine.	http://purl.obolibrary.org/obo/HP_0005265		Abnormality of the jejunum
OBO:HP_0005266	Intestinal polyp	biolink:OntologyClass	hp	MSH:D007417|SNOMEDCT_US:254588001|UMLS:C0021846	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.	http://purl.obolibrary.org/obo/HP_0005266		Intestinal polyps
OBO:HP_0005267	Premature delivery because of cervical insufficiency or membrane fragility	biolink:OntologyClass	hp	UMLS:C1851808		http://purl.obolibrary.org/obo/HP_0005267		
OBO:HP_0005268	Spontaneous abortion	biolink:OntologyClass	hp	MSH:D000022|SNOMEDCT_US:17369002|UMLS:C0000786	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.	http://purl.obolibrary.org/obo/HP_0005268		Miscarriage
OBO:HP_0005272	Prominent nasolabial fold	biolink:OntologyClass	hp	UMLS:C1866487	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).	http://purl.obolibrary.org/obo/HP_0005272	hposlim_core	Deep laugh lines|Deep smile lines|Prominent laugh lines|Prominent smile lines|Deep nasolabial crease|Deep nasolabial fold|Deep nasolabial groove|Nasolabial crease, prominent|Prominent nasolabial groove
OBO:HP_0005273	Absent nasal septal cartilage	biolink:OntologyClass	hp	UMLS:C4021638|UMLS:C4280501	Lack of the cartilage of the nasal septum.	http://purl.obolibrary.org/obo/HP_0005273	hposlim_core	Absent nasal septal cartilage|Absent nasal septum|Failure of development of nasal septal cartilage|Ageneis of nasal septal cartilage
OBO:HP_0005274	Prominent nasal tip	biolink:OntologyClass	hp	UMLS:C1856118|UMLS:C4280498|UMLS:C4280499|UMLS:C4280500		http://purl.obolibrary.org/obo/HP_0005274		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
OBO:HP_0005275	Cartilaginous ossification of nose	biolink:OntologyClass	hp	UMLS:C1855616		http://purl.obolibrary.org/obo/HP_0005275		Cartilaginous nasal ossification
OBO:HP_0005278	Hypoplastic nasal tip	biolink:OntologyClass	hp	UMLS:C1844731|UMLS:C4280496|UMLS:C4280497		http://purl.obolibrary.org/obo/HP_0005278		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
OBO:HP_0005280	Depressed nasal bridge	biolink:OntologyClass	hp	UMLS:C1836542|UMLS:C3550546|UMLS:C4280495	Posterior positioning of the nasal root in relation to the overall facial profile for age.	http://purl.obolibrary.org/obo/HP_0005280	hposlim_core	Depressed bridge of nose|Depressed nasal bridge|Flat bridge of nose|Flat nasal bridge|Flat, nasal bridge|Flattened nasal bridge|Low nasal bridge|Low nasal root|Concave bridge of nose|Concave nasal bridge|Depressed nasal root|Flat nasal root|Retruded bridge of nose|Retruded nasal bridge|Depressed nasal root/bridge
OBO:HP_0005281	Hypoplastic nasal bridge	biolink:OntologyClass	hp	UMLS:C1865597|UMLS:C4280494		http://purl.obolibrary.org/obo/HP_0005281		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
OBO:HP_0005285	Absent nasal bridge	biolink:OntologyClass	hp	UMLS:C1837888		http://purl.obolibrary.org/obo/HP_0005285		Absent bridge of nose|Absent nasal bridge|Missing bridge of nose|Missing nasal bridge|Agenesis of bridge of nose|Agenesis of nasal bridge
OBO:HP_0005288	Abnormality of the nares	biolink:OntologyClass	hp	UMLS:C4021637	Abnormality of the nostril.	http://purl.obolibrary.org/obo/HP_0005288	hposlim_core	Abnormality of the nostrils|Deformity of the nostrils|Malformation of the nostrils|Anomaly of the nares|Deformity of the nares|Malformation of the nares
OBO:HP_0005289	Abnormality of the nasolabial region	biolink:OntologyClass	hp	UMLS:C4025223		http://purl.obolibrary.org/obo/HP_0005289		Anomaly of the nasolabial region|Deformity of the nasolabial region|Malformation of the nasolabial region
OBO:HP_0005290	Internal carotid artery hypoplasia	biolink:OntologyClass	hp	UMLS:C1855736|UMLS:C4280491|UMLS:C4280492|UMLS:C4280493		http://purl.obolibrary.org/obo/HP_0005290		Decreased size of internal carotid artery|Small internal carotid artery|Aplasia of internal carotid artery|Deficiency of internal carotid artery|Hypotrophic internal carotid artery
OBO:HP_0005291	Inflammatory arteriopathy	biolink:OntologyClass	hp	UMLS:C4025222		http://purl.obolibrary.org/obo/HP_0005291		
OBO:HP_0005292	Intimal thickening in the coronary arteries	biolink:OntologyClass	hp	UMLS:C1968633		http://purl.obolibrary.org/obo/HP_0005292		
OBO:HP_0005293	Venous insufficiency	biolink:OntologyClass	hp	MSH:D014689|SNOMEDCT_US:20696009|UMLS:C0042485		http://purl.obolibrary.org/obo/HP_0005293		Poorly functioning veins
OBO:HP_0005294	Arterial dissection	biolink:OntologyClass	hp	MSH:D000784|SNOMEDCT_US:233992003|SNOMEDCT_US:26845001|SNOMEDCT_US:710864009|SNOMEDCT_US:9406001|UMLS:C0002949	A separation (dissection) of the layers of an artery.	http://purl.obolibrary.org/obo/HP_0005294		
OBO:HP_0005295	Pseudocoarctation of the aorta	biolink:OntologyClass	hp	SNOMEDCT_US:70602002|UMLS:C0345088	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.	http://purl.obolibrary.org/obo/HP_0005295		
OBO:HP_0005296	obsolete Occlusive vascular disease	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0005296		
OBO:HP_0005297	Premature occlusive vascular stenosis	biolink:OntologyClass	hp	UMLS:C1867457	Peripheral arterial stenosis with onset before the age of 50 years.	http://purl.obolibrary.org/obo/HP_0005297		
OBO:HP_0005298	obsolete Atrioventricular canal defect with right ventricle aorta and pulmonary atresia	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0005298		
OBO:HP_0005299	obsolete Premature peripheral vascular disease	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0005299		
OBO:HP_0005300	Nodular inflammatory vasculitis	biolink:OntologyClass	hp	UMLS:C4025219		http://purl.obolibrary.org/obo/HP_0005300		
OBO:HP_0005301	Persistent left superior vena cava	biolink:OntologyClass	hp	SNOMEDCT_US:77978002|UMLS:C0265931	A rare congenital vascular anomaly that results when the left superior cardinal vein caudal to the innominate vein fails to regress.	http://purl.obolibrary.org/obo/HP_0005301		PLSVC
OBO:HP_0005302	Carotid artery tortuosity	biolink:OntologyClass	hp	SNOMEDCT_US:401051003|UMLS:C1303076	Abnormal tortuous (i.e., twisted) form of the carotid arteries.	http://purl.obolibrary.org/obo/HP_0005302		Tortuous carotid arteries
OBO:HP_0005303	Aortic arch calcification	biolink:OntologyClass	hp	UMLS:C1969291	Calcification, that is, pathological deposition of calcium salts in the arch of aorta.	http://purl.obolibrary.org/obo/HP_0005303		
OBO:HP_0005304	Hypoplastic pulmonary veins	biolink:OntologyClass	hp	UMLS:C1970501		http://purl.obolibrary.org/obo/HP_0005304		Underdeveloped lung veins
OBO:HP_0005305	Cerebral venous thrombosis	biolink:OntologyClass	hp	SNOMEDCT_US:95455008|UMLS:C0151945	Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow.	http://purl.obolibrary.org/obo/HP_0005305		Blood clot in cerebral vein|Cerebral thrombosis|Cerebral vein thrombosis
OBO:HP_0005306	Capillary hemangioma	biolink:OntologyClass	hp	MSH:D018324|SNOMEDCT_US:195382003|SNOMEDCT_US:254206003|SNOMEDCT_US:402867006|SNOMEDCT_US:56975005|SNOMEDCT_US:83343001|UMLS:C0206733	The presence of a capillary hemangioma, which are hemangiomas with small endothelial spaces.	http://purl.obolibrary.org/obo/HP_0005306	hposlim_core	Strawberry birthmark|Capillary hemangioma
OBO:HP_0005307	Postural hypotension with compensatory tachycardia	biolink:OntologyClass	hp	UMLS:C1850438		http://purl.obolibrary.org/obo/HP_0005307		
OBO:HP_0005308	Pulmonary artery vasoconstriction	biolink:OntologyClass	hp	UMLS:C1867424		http://purl.obolibrary.org/obo/HP_0005308		
OBO:HP_0005309	obsolete Peripheral vascular insufficiency	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0005309		
OBO:HP_0005310	Large vessel vasculitis	biolink:OntologyClass	hp	UMLS:C4025218	A type of vasculitis (inflammation of blood vessel walls) affecting large arteries such as the aorta and branches of the aorta.	http://purl.obolibrary.org/obo/HP_0005310		
OBO:HP_0005311	Agenesis of pulmonary vessels	biolink:OntologyClass	hp	UMLS:C1970630	A developmental defect characterized by the lack of formation of the pulmonary blood vessels.	http://purl.obolibrary.org/obo/HP_0005311		Absent lung vessels
OBO:HP_0005312	Pulmonary aterial intimal fibrosis	biolink:OntologyClass	hp	UMLS:C4025217	Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries in the pulmonary circulation.	http://purl.obolibrary.org/obo/HP_0005312		
OBO:HP_0005313	Arterial fibromuscular dysplasia	biolink:OntologyClass	hp	MSH:D005352|SNOMEDCT_US:31653004|SNOMEDCT_US:359553002|UMLS:C0016052	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.	http://purl.obolibrary.org/obo/HP_0005313		
OBO:HP_0005314	Anomalous branches of internal carotid artery	biolink:OntologyClass	hp	UMLS:C1847886		http://purl.obolibrary.org/obo/HP_0005314		
OBO:HP_0005315	obsolete Peripheral artery occlusive disease	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0005315		
OBO:HP_0005316	Peripheral pulmonary vessel aplasia	biolink:OntologyClass	hp	UMLS:C1848877		http://purl.obolibrary.org/obo/HP_0005316		
OBO:HP_0005317	Increased pulmonary vascular resistance	biolink:OntologyClass	hp	UMLS:C1867423	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.	http://purl.obolibrary.org/obo/HP_0005317		
OBO:HP_0005318	Cerebral vasculitis	biolink:OntologyClass	hp	MSH:D020293|SNOMEDCT_US:427020007|UMLS:C0238051	Inflammation of the blood vessels within the brain.	http://purl.obolibrary.org/obo/HP_0005318		
OBO:HP_0005320	Lack of facial subcutaneous fat	biolink:OntologyClass	hp	UMLS:C3277426		http://purl.obolibrary.org/obo/HP_0005320		Lack of facial fat below the skin
OBO:HP_0005321	Mandibulofacial dysostosis	biolink:OntologyClass	hp	MSH:D008342|SNOMEDCT_US:82203000|UMLS:C0242387	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.	http://purl.obolibrary.org/obo/HP_0005321		Treacher collins syndrome
OBO:HP_0005322	Prominent nasal septum	biolink:OntologyClass	hp	UMLS:C4025216|UMLS:C4280489|UMLS:C4280490		http://purl.obolibrary.org/obo/HP_0005322		Prominent nasal septum|Prominent septum of nose|Low hanging nasal septum|Low hanging septum of nose|Visible nasal septum|Visible septum of nose
OBO:HP_0005323	Hemifacial hypertrophy	biolink:OntologyClass	hp	MSH:C563014|MSH:D005621|SNOMEDCT_US:10394003|SNOMEDCT_US:697962004|UMLS:C0016719|UMLS:C1399354	Unilateral overgrowth of facial tissues, including muscles, bones and skin.	http://purl.obolibrary.org/obo/HP_0005323	hposlim_core	Enlargement of half of face|Hemifacial enlargement|Hypertrophy of half of face|Increase in size of half of face|Overgrowth of half of face|Facial hemihypertophy|Facial hemihyperplasia|Friedreich's disease
OBO:HP_0005324	Disturbance of facial expression	biolink:OntologyClass	hp	UMLS:C4025215	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.	http://purl.obolibrary.org/obo/HP_0005324		Disturbance of facial expression
OBO:HP_0005325	Extension of hair growth on temples to lateral eyebrow	biolink:OntologyClass	hp	UMLS:C1857455	A pattern of hair growth in which there is hair extending from the temples to the lateral eyebrows.	http://purl.obolibrary.org/obo/HP_0005325		Unusual hairline with hair growth on temples extending to lateral eyebrow
OBO:HP_0005326	Hypoplastic philtrum	biolink:OntologyClass	hp	UMLS:C1856886	Underdevelopment of the philtrum.	http://purl.obolibrary.org/obo/HP_0005326		Small philtrum
OBO:HP_0005327	Loss of facial expression	biolink:OntologyClass	hp	UMLS:C1852476		http://purl.obolibrary.org/obo/HP_0005327		Loss of facial expression
OBO:HP_0005328	Progeroid facial appearance	biolink:OntologyClass	hp	UMLS:C1857710	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.	http://purl.obolibrary.org/obo/HP_0005328		Premature aged appearance|Aged facial appearance|Prematurely aged face|Prematurely aged facial appearance|Wizened face
OBO:HP_0005329	Fixed facial expression	biolink:OntologyClass	hp	UMLS:C1855353		http://purl.obolibrary.org/obo/HP_0005329		Fixed facial expression|Unchanging facial expression
OBO:HP_0005332	Recurrent mandibular subluxations	biolink:OntologyClass	hp	UMLS:C1857011	Recurrent partial dislocations of the mandible.	http://purl.obolibrary.org/obo/HP_0005332		
OBO:HP_0005335	Sleepy facial expression	biolink:OntologyClass	hp	UMLS:C4025214		http://purl.obolibrary.org/obo/HP_0005335		Sleepy facial expression|Somnolent facial expression
OBO:HP_0005336	Forehead hyperpigmentation	biolink:OntologyClass	hp	UMLS:C1969673		http://purl.obolibrary.org/obo/HP_0005336		Darkening of the forehead
OBO:HP_0005338	Sparse lateral eyebrow	biolink:OntologyClass	hp	UMLS:C1857206	Decreased density/number and/or decreased diameter of lateral eyebrow hairs.	http://purl.obolibrary.org/obo/HP_0005338	hposlim_core	Limited hair on end of eyebrow|Lateral hypoplasia of eyebrows|Lateral thinning of eyebrows|Laterally sparse eyebrow|Laterally sparse eyebrows|Sparse lateral eyebrows
OBO:HP_0005339	Abnormality of complement system	biolink:OntologyClass	hp	UMLS:C4025213	An abnormality of the complement system.	http://purl.obolibrary.org/obo/HP_0005339		
OBO:HP_0005340	Spastic/hyperactive bladder	biolink:OntologyClass	hp	UMLS:C1836904		http://purl.obolibrary.org/obo/HP_0005340		
OBO:HP_0005341	Autonomic bladder dysfunction	biolink:OntologyClass	hp	UMLS:C4025212	Abnormal bladder function (increased urge or frequency of urination or urge incontinence) resulting from abnormal functioning of the autonomic nervous system.	http://purl.obolibrary.org/obo/HP_0005341		
OBO:HP_0005343	Hypoplasia of the bladder	biolink:OntologyClass	hp	UMLS:C1855335	Underdevelopment of the urinary bladder.	http://purl.obolibrary.org/obo/HP_0005343		Underdeveloped bladder|Hypoplastic bladder
OBO:HP_0005344	Abnormal carotid artery morphology	biolink:OntologyClass	hp	UMLS:C4025211	Any structural abnormality of the carotid arteries, including the common carotid artery and its' arterial branches.	http://purl.obolibrary.org/obo/HP_0005344		Abnormality of the carotid arteries
OBO:HP_0005345	Abnormal vena cava morphology	biolink:OntologyClass	hp	UMLS:C4025210	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.	http://purl.obolibrary.org/obo/HP_0005345		Abnormality of the vena cava
OBO:HP_0005346	Abnormal facial expression	biolink:OntologyClass	hp	UMLS:C4025209		http://purl.obolibrary.org/obo/HP_0005346		Abnormal facial expression
OBO:HP_0005347	Cartilaginous trachea	biolink:OntologyClass	hp	UMLS:C1863363		http://purl.obolibrary.org/obo/HP_0005347		
OBO:HP_0005348	Inspiratory stridor	biolink:OntologyClass	hp	SNOMEDCT_US:58596002|UMLS:C0677600	Inspiratory stridor is a high pitched sound upon inspiration that is generally related to laryngeal abnormalities.	http://purl.obolibrary.org/obo/HP_0005348		
OBO:HP_0005349	Hypoplasia of the epiglottis	biolink:OntologyClass	hp	UMLS:C1396772	Hypoplasia of the epiglottis.	http://purl.obolibrary.org/obo/HP_0005349		Hypoplastic epiglottis
OBO:HP_0005352	Severe T-cell immunodeficiency	biolink:OntologyClass	hp	UMLS:C4025208	A primary immune deficiency that is characterized by defects or deficiencies of T-lymphocytes that causes specific susceptibility to intracellular micro-organisms.	http://purl.obolibrary.org/obo/HP_0005352		Severe T-cell immunodeficiency
OBO:HP_0005353	Recurrent herpes	biolink:OntologyClass	hp	UMLS:C4025207	Increased susceptibility to herpesvirus, as manifested by recurrent episodes of herpesvirus.	http://purl.obolibrary.org/obo/HP_0005353		Susceptibility to herpesvirus
OBO:HP_0005354	Lack of T cell function	biolink:OntologyClass	hp	UMLS:C1849426	Complete inability of T cells to perform their functions in cell-mediated immunity.	http://purl.obolibrary.org/obo/HP_0005354		Absent cellular immunity
OBO:HP_0005356	Decreased serum complement factor I	biolink:OntologyClass	hp	UMLS:C1970257	A reduced level of the complement component Factor I in circulation.	http://purl.obolibrary.org/obo/HP_0005356		
OBO:HP_0005357	Defective B cell differentiation	biolink:OntologyClass	hp	UMLS:C1859624	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.	http://purl.obolibrary.org/obo/HP_0005357		
OBO:HP_0005359	Aplasia of the thymus	biolink:OntologyClass	hp	MSH:C536288|SNOMEDCT_US:702623002|SNOMEDCT_US:91918005|UMLS:C0685894	Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination.	http://purl.obolibrary.org/obo/HP_0005359		Absent thymus|Athymia|Absent thymic shadow|Lack of thymic shadow
OBO:HP_0005360	Susceptibility to chickenpox	biolink:OntologyClass	hp	UMLS:C1855205	Increased susceptibility to chicken pox, as manifested by recurrent episodes of chicken pox.	http://purl.obolibrary.org/obo/HP_0005360		
OBO:HP_0005363	Humoral immunodeficiency	biolink:OntologyClass	hp	UMLS:C4025206	A general term referring to a defect in immunity resulting from impaired antibody production.	http://purl.obolibrary.org/obo/HP_0005363		
OBO:HP_0005364	obsolete Severe viral infections	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0005364		
OBO:HP_0005365	Severe B lymphocytopenia	biolink:OntologyClass	hp	UMLS:C1863715|UMLS:C4020824	A severe form of B lymphocytopenia in which the count of B cells is very low or absent.	http://purl.obolibrary.org/obo/HP_0005365		Absent B cells|Absence of B cells
OBO:HP_0005366	Recurrent streptococcus pneumoniae infections	biolink:OntologyClass	hp	UMLS:C2169794	Increased susceptibility to streptococcus pneumoniae infections as manifested by a history of recurrent infections by streptococcus pneumoniae.	http://purl.obolibrary.org/obo/HP_0005366		
OBO:HP_0005368	Abnormality of humoral immunity	biolink:OntologyClass	hp	UMLS:C3150510	An abnormality of the humoral immune system, which comprises antibodies produced by B cells as well as the complement system.	http://purl.obolibrary.org/obo/HP_0005368		Defective humoral immunity
OBO:HP_0005369	Decreased serum complement factor H	biolink:OntologyClass	hp	UMLS:C1969222	A reduced level of the complement component Factor H in circulation.	http://purl.obolibrary.org/obo/HP_0005369		
OBO:HP_0005372	Abnormality of B cell physiology	biolink:OntologyClass	hp	UMLS:C1849242	An abnormality of the physiological functioning of B cells.	http://purl.obolibrary.org/obo/HP_0005372		Abnormality of B cell physiology|Reduced B cell function
OBO:HP_0005374	Cellular immunodeficiency	biolink:OntologyClass	hp	UMLS:C1855204	An immunodeficiency characterized by defective cell-mediated immunity or humoral immunity.	http://purl.obolibrary.org/obo/HP_0005374		
OBO:HP_0005375	obsolete Partial cellular immunodeficiency	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0005375		
OBO:HP_0005376	Recurrent Haemophilus influenzae infections	biolink:OntologyClass	hp	UMLS:C4025204	Increased susceptibility to Haemophilus influenzae infections as manifested by recurrent episodes of infection by Haemophilus influenzae.	http://purl.obolibrary.org/obo/HP_0005376		Recurrent H. influenzae infections
OBO:HP_0005379	obsolete Severe T lymphocytopenia	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0005379		
OBO:HP_0005381	Recurrent meningococcal disease	biolink:OntologyClass	hp	UMLS:C1970263	Recurrent infections by Neisseria meningitidis (one of the most common causes of bacterial meningitis), which is also known as meningococcus.	http://purl.obolibrary.org/obo/HP_0005381		Increased susceptibility to neisseria meningitidis infections
OBO:HP_0005384	Defective B cell activation	biolink:OntologyClass	hp	UMLS:C1846551	A reduced ability of a B cell to become activated, i.e., the change in morphology and behavior of	http://purl.obolibrary.org/obo/HP_0005384		
OBO:HP_0005386	Recurrent protozoan infections	biolink:OntologyClass	hp	UMLS:C4025202	Increased susceptibility to protozoan infections, as manifested by recurrent episodes of protozoan infection.	http://purl.obolibrary.org/obo/HP_0005386		
OBO:HP_0005387	Combined immunodeficiency	biolink:OntologyClass	hp	UMLS:C0494261	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.	http://purl.obolibrary.org/obo/HP_0005387		
OBO:HP_0005389	Depletion of components of the alternative complement pathway	biolink:OntologyClass	hp	UMLS:C1969220	An abnormal reduction in the components of the alternative complement pathway, such as the C3 protein or its cleavage products.	http://purl.obolibrary.org/obo/HP_0005389		
OBO:HP_0005390	Recurrent opportunistic infections	biolink:OntologyClass	hp	UMLS:C1832324	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.	http://purl.obolibrary.org/obo/HP_0005390		Frequent opportunistic infections
OBO:HP_0005396	Susceptibility to coronavirus 229e	biolink:OntologyClass	hp	UMLS:C1852539	Increased susceptibility to coronavirus 229e, as manifested by recurrent episodes of coronavirus 229e.	http://purl.obolibrary.org/obo/HP_0005396		
OBO:HP_0005397	obsolete Exaggerated cellular immune processes	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0005397		
OBO:HP_0005400	Reduction of neutrophil motility	biolink:OntologyClass	hp	UMLS:C4025201	An abnormal reduction of the cell motility of neutrophils.	http://purl.obolibrary.org/obo/HP_0005400		
OBO:HP_0005401	Recurrent candida infections	biolink:OntologyClass	hp	UMLS:C1860128	An increased susceptibility to candida infections, as manifested by a history of recurrent episodes of candida infections.	http://purl.obolibrary.org/obo/HP_0005401		Frequent candida infections
OBO:HP_0005402	obsolete Primary T-lymphocyte immune abnormalities	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0005402		
OBO:HP_0005403	T lymphocytopenia	biolink:OntologyClass	hp	MSH:C536783|UMLS:C2931322	An abnormally low count of T cells.	http://purl.obolibrary.org/obo/HP_0005403		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
OBO:HP_0005404	Increased B cell count	biolink:OntologyClass	hp	UMLS:C1858972	An abnormal increase from the normal count of B cells.	http://purl.obolibrary.org/obo/HP_0005404		Increase in B cell count|Increase in B cell number|Increased number of B cells
OBO:HP_0005406	Recurrent bacterial skin infections	biolink:OntologyClass	hp	UMLS:C1835686	Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis.	http://purl.obolibrary.org/obo/HP_0005406		Recurrent bacterial skin infections|Recurrent cutaneous pyogenic infections|Recurrent episodes of impetigo|Recurrent episodes of infectious dermatitis|Recurrent pyogenic skin infections
OBO:HP_0005407	Decreased proportion of CD4-positive helper T cells	biolink:OntologyClass	hp	UMLS:C1839304	A decreased proportion of circulating CD4-positive helper T cells relative to total T cell count.	http://purl.obolibrary.org/obo/HP_0005407		Abnormality of CD4+ T cells|CD4 T cell lymphopenia|CD4+ T-cell lymphopenia
OBO:HP_0005409	obsolete Markedly reduced T cell function	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0005409		
OBO:HP_0005411	Chronic intestinal candidiasis	biolink:OntologyClass	hp	UMLS:C4020823|UMLS:C4025199	Persistent overgrowth of Candida albicans in the gastrointestinal tract.	http://purl.obolibrary.org/obo/HP_0005411		Candida overgrowth syndrome
OBO:HP_0005413	Increased alpha-globulin	biolink:OntologyClass	hp	SNOMEDCT_US:124022007|UMLS:C1167806	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.	http://purl.obolibrary.org/obo/HP_0005413		
OBO:HP_0005415	Decreased proportion of CD8-positive T cells	biolink:OntologyClass	hp	UMLS:C1839305	A decreased proportion of circulating CD8-positive, alpha-beta T cells relative to total number of T cells.	http://purl.obolibrary.org/obo/HP_0005415		CD8+ T-cell lymphopenia|Decreased proportion of CD8+ T cells|Decreased proportion of CD8-positive, alpha-beta T cells
OBO:HP_0005416	Decreased serum complement factor B	biolink:OntologyClass	hp	UMLS:C4021636	A reduced level of the complement component factor B in circulation.	http://purl.obolibrary.org/obo/HP_0005416		Decreased serum factor b
OBO:HP_0005419	Decreased T cell activation	biolink:OntologyClass	hp	UMLS:C1846550	Decreased or impaired activation of T cells in response to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific.	http://purl.obolibrary.org/obo/HP_0005419		Decreased T lymphocyte activation|Decreased T-cell activation|Decreased T-lymphocyte activation|Defective T cell activation|Profound depletion of T4+ lymphocytes
OBO:HP_0005420	Recurrent gram-negative bacterial infections	biolink:OntologyClass	hp	UMLS:C4025198	Increased susceptibility to infection by gram-negative bacteria, as manifested by a medical history of repeated or frequent infections by these agents.	http://purl.obolibrary.org/obo/HP_0005420		
OBO:HP_0005421	Decreased serum complement C3	biolink:OntologyClass	hp	UMLS:C1837512	A reduced level of the complement component C3 in circulation.	http://purl.obolibrary.org/obo/HP_0005421		Decreased serum C3|Decreased serum complement C3 level
OBO:HP_0005422	Absence of CD8-positive T cells	biolink:OntologyClass	hp	UMLS:C4025197	Lack of detectible CD8-positive T cells	http://purl.obolibrary.org/obo/HP_0005422		Absence of CD8+ T cells
OBO:HP_0005423	Dysfunctional alternative complement pathway	biolink:OntologyClass	hp	UMLS:C1839458	An abnormality of the functioning of any aspect of the alternative complement pathway.	http://purl.obolibrary.org/obo/HP_0005423		
OBO:HP_0005424	Absent specific antibody response	biolink:OntologyClass	hp	UMLS:C1863246	Absence of specific immunoglobulins directed against a specific antigen or microorganism.	http://purl.obolibrary.org/obo/HP_0005424		
OBO:HP_0005425	Recurrent sinopulmonary infections	biolink:OntologyClass	hp	UMLS:C1846546	An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections.	http://purl.obolibrary.org/obo/HP_0005425		Recurrent sinus and lung infections|Chronic sinopulmonary infection
OBO:HP_0005428	Severe recurrent varicella	biolink:OntologyClass	hp	MSH:C563458|UMLS:C1833487		http://purl.obolibrary.org/obo/HP_0005428		
OBO:HP_0005429	Recurrent systemic pyogenic infections	biolink:OntologyClass	hp	UMLS:C4025196	Increased susceptibility to systemic pyogenic infections, as manifested by recurrent episodes of systemic pyogenic infections.	http://purl.obolibrary.org/obo/HP_0005429		
OBO:HP_0005430	Recurrent Neisserial infections	biolink:OntologyClass	hp	UMLS:C3151083	Recurrent infections by bacteria of the genus Neisseria, including N. meningitidis (one of the most common causes of bacterial meningitis).	http://purl.obolibrary.org/obo/HP_0005430		Episodes of neisserial infection|Recurrent neisseria infections
OBO:HP_0005432	Transient hypogammaglobulinemia of infancy	biolink:OntologyClass	hp	SNOMEDCT_US:88714009|UMLS:C0272238|UMLS:C4020822	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.	http://purl.obolibrary.org/obo/HP_0005432		Newborn gammaglobulin deficiency
OBO:HP_0005435	Impaired T cell function	biolink:OntologyClass	hp	UMLS:C1860127	Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity.	http://purl.obolibrary.org/obo/HP_0005435		Impaired T cell function|T-cell dysfunction
OBO:HP_0005437	Recurrent infections in infancy and early childhood	biolink:OntologyClass	hp	UMLS:C1844909	Recurrent infections at an early age with improvement in later childhood.	http://purl.obolibrary.org/obo/HP_0005437		
OBO:HP_0005439	Maxillozygomatic hypoplasia	biolink:OntologyClass	hp	UMLS:C1848908|UMLS:C4280488	Hypoplasia of the maxillozygomatic complex.	http://purl.obolibrary.org/obo/HP_0005439		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
OBO:HP_0005441	Sclerotic cranial sutures	biolink:OntologyClass	hp	UMLS:C4025195	An increased density in the cranial sutures following obliteration.	http://purl.obolibrary.org/obo/HP_0005441		
OBO:HP_0005442	Widely patent coronal suture	biolink:OntologyClass	hp	UMLS:C1856778	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.	http://purl.obolibrary.org/obo/HP_0005442		
OBO:HP_0005445	Enlarged posterior fossa	biolink:OntologyClass	hp	UMLS:C1855889	Abnormal increased size of the posterior cranial fossa.	http://purl.obolibrary.org/obo/HP_0005445		Widened posterior fossa
OBO:HP_0005446	Obtuse angle of mandible	biolink:OntologyClass	hp	SNOMEDCT_US:709997007|UMLS:C4038738	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.	http://purl.obolibrary.org/obo/HP_0005446		High mandibular plane angle|Steep mandibular plane angle
OBO:HP_0005449	Bridged sella turcica	biolink:OntologyClass	hp	MSH:C566689|UMLS:C1866959		http://purl.obolibrary.org/obo/HP_0005449		
OBO:HP_0005450	Calvarial osteosclerosis	biolink:OntologyClass	hp	UMLS:C1855657	An increase in bone density affecting the calvaria (roof of the skull).	http://purl.obolibrary.org/obo/HP_0005450		
OBO:HP_0005451	Decreased cranial base ossification	biolink:OntologyClass	hp	UMLS:C1835442		http://purl.obolibrary.org/obo/HP_0005451		
OBO:HP_0005453	Absent/hypoplastic paranasal sinuses	biolink:OntologyClass	hp	UMLS:C1856639	Aplasia or hypoplasia of the paranasal sinuses.	http://purl.obolibrary.org/obo/HP_0005453	hposlim_core	
OBO:HP_0005456	Absent ethmoidal sinuses	biolink:OntologyClass	hp	UMLS:C4025194	Lack (aplasia) of the ethmoidal sinus.	http://purl.obolibrary.org/obo/HP_0005456		Agenesis of ethmoid sinuses|Failure of development of ethmoid sinuses|Missing ethmoid sinuses
OBO:HP_0005458	Premature closure of fontanelles	biolink:OntologyClass	hp	MSH:D003398|SNOMEDCT_US:1667003|SNOMEDCT_US:57219006|UMLS:C0010278|UMLS:C0277827|UMLS:C4072853	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.	http://purl.obolibrary.org/obo/HP_0005458		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
OBO:HP_0005461	Craniofacial disproportion	biolink:OntologyClass	hp	UMLS:C1867114		http://purl.obolibrary.org/obo/HP_0005461		
OBO:HP_0005462	Calcification of falx cerebri	biolink:OntologyClass	hp	UMLS:C1397139	The presence of calcium deposition in the falx cerebri.	http://purl.obolibrary.org/obo/HP_0005462		
OBO:HP_0005463	Elongated sella turcica	biolink:OntologyClass	hp	UMLS:C1863311		http://purl.obolibrary.org/obo/HP_0005463		
OBO:HP_0005464	Craniofacial osteosclerosis	biolink:OntologyClass	hp	UMLS:C1845805|UMLS:C4025193	Abnormally increased density of craniofacial bone tissue.	http://purl.obolibrary.org/obo/HP_0005464		Cranial sclerosis
OBO:HP_0005465	Facial hyperostosis	biolink:OntologyClass	hp	UMLS:C1857501|UMLS:C4280485|UMLS:C4280486|UMLS:C4280487	Excessive growth (overgrowth) of the facial bones, that is of the facial skeleton.	http://purl.obolibrary.org/obo/HP_0005465	hposlim_core	Enlargement of facial bones|Enlargement of facial skeleton|Enlargment of the facial bones|Excessive growth of facial bones|Excessive growth of facial skeleton|Increase in size of the facial bones|Overgrowth of facial bones|Overgrowth of facial skeleton|Overgrowth of the facial bones|Hypertrophy of facial bones|Hypertrophy of facial skeleton|Hyperostosis of facial bones|Hyperostosis of facial skeleton|Hypertrophy of the facial bones|Increased ossification of facial bones|Increased ossification of facial skeleton
OBO:HP_0005466	Hypoplasia of the frontal bone	biolink:OntologyClass	hp	UMLS:C1845147|UMLS:C4280483|UMLS:C4280484	Underdevelopment of the frontal bone.	http://purl.obolibrary.org/obo/HP_0005466		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
OBO:HP_0005469	Flat occiput	biolink:OntologyClass	hp	UMLS:C1837402|UMLS:C4280482	Reduced convexity of the occiput (posterior part of skull).	http://purl.obolibrary.org/obo/HP_0005469	hposlim_core	Flat back of skull|Flat back of the head|Flat back of the skull|Flat posterior head|Flat posterior cranium|Posterior flattening of the skull
OBO:HP_0005472	Orbital craniosynostosis	biolink:OntologyClass	hp	UMLS:C4025192		http://purl.obolibrary.org/obo/HP_0005472		
OBO:HP_0005473	Fusion of middle ear ossicles	biolink:OntologyClass	hp	UMLS:C1862068	Bony fusion of malleus, incus, and stapes.	http://purl.obolibrary.org/obo/HP_0005473		
OBO:HP_0005474	Decreased calvarial ossification	biolink:OntologyClass	hp	UMLS:C1833762	Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone).	http://purl.obolibrary.org/obo/HP_0005474		Soft skullcap|Poorly ossified calvaria|Poorly ossified calvarium|Soft calvaria|Undermineralized calvarium|Skull soft on palpation
OBO:HP_0005476	Widely patent sagittal suture	biolink:OntologyClass	hp	UMLS:C1856779	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.	http://purl.obolibrary.org/obo/HP_0005476		
OBO:HP_0005477	Progressive sclerosis of skull base	biolink:OntologyClass	hp	UMLS:C1835470	Progressively increasing bone density of the skull base without significant changes in bony contour.	http://purl.obolibrary.org/obo/HP_0005477		
OBO:HP_0005478	Prominent frontal sinuses	biolink:OntologyClass	hp	UMLS:C1969404|UMLS:C4280265|UMLS:C4280479|UMLS:C4280480|UMLS:C4280481		http://purl.obolibrary.org/obo/HP_0005478		Increased size of frontal sinus|Increased volume of frontal sinus|Large frontal sinus|Hyperplasia of frontal sinus|Hypertrophy of frontal sinus
OBO:HP_0005479	Decreased circulating IgE	biolink:OntologyClass	hp	UMLS:C0860904	An abnormally decreased level of immunoglobulin E (IgE) in blood.	http://purl.obolibrary.org/obo/HP_0005479		Decreased IgE|IgE deficiency
OBO:HP_0005482	Abnormality of the alternative complement pathway	biolink:OntologyClass	hp	UMLS:C4025191	A deviation in any aspect of the alternative complement pathway.	http://purl.obolibrary.org/obo/HP_0005482		
OBO:HP_0005483	Abnormal epiglottis morphology	biolink:OntologyClass	hp	UMLS:C4025190	An abnormality of the epiglottis.	http://purl.obolibrary.org/obo/HP_0005483		Abnormality of the epiglottis
OBO:HP_0005484	Postnatal microcephaly	biolink:OntologyClass	hp	UMLS:C1847514	Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth.	http://purl.obolibrary.org/obo/HP_0005484		Development of small head that was not present at birth|Acquired microcephaly|Deceleration of head growth|Microcephaly, acquired|Microcephaly, postnatal|Postnatal deceleration of head circumference|Secondary microcephaly
OBO:HP_0005486	Small fontanelle	biolink:OntologyClass	hp	SNOMEDCT_US:276710001|UMLS:C0456133|UMLS:C4072854|UMLS:C4072855	A fontanelle that is small for age.	http://purl.obolibrary.org/obo/HP_0005486	hposlim_core	Little cranial sutures|Small cranial sutures|Small soft spot|Little fontanelle|Microfontanelle|Small bregma sutures
OBO:HP_0005487	Prominent metopic ridge	biolink:OntologyClass	hp	UMLS:C1857949	Vertical bony ridge positioned in the midline of the forehead.	http://purl.obolibrary.org/obo/HP_0005487	hposlim_core	Prominent frontal ridge|Prominent metopic suture|Ridging of metopic suture|Prominent frontal suture|Ridging of frontal suture
OBO:HP_0005490	Postnatal macrocephaly	biolink:OntologyClass	hp	UMLS:C1854417	The postnatal development of an abnormally large skull (macrocephaly).	http://purl.obolibrary.org/obo/HP_0005490		Macrocephaly, postnatal
OBO:HP_0005494	Premature posterior fontanelle closure	biolink:OntologyClass	hp	UMLS:C1839126		http://purl.obolibrary.org/obo/HP_0005494		
OBO:HP_0005495	Metopic suture patent to nasal root	biolink:OntologyClass	hp	UMLS:C4025189	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.	http://purl.obolibrary.org/obo/HP_0005495		
OBO:HP_0005498	Midline skin dimples over anterior/posterior fontanelles	biolink:OntologyClass	hp	UMLS:C1855690		http://purl.obolibrary.org/obo/HP_0005498		
OBO:HP_0005502	Increased red cell osmotic fragility	biolink:OntologyClass	hp	UMLS:C1849478		http://purl.obolibrary.org/obo/HP_0005502		Increased erythrocyte osmotic fragility|Increased red cell fragility
OBO:HP_0005505	Refractory anemia	biolink:OntologyClass	hp	MSH:D000753|SNOMEDCT_US:128845005|UMLS:C0002893		http://purl.obolibrary.org/obo/HP_0005505		Refractory anaemia
OBO:HP_0005506	Chronic myelogenous leukemia	biolink:OntologyClass	hp	DOID:8552|MSH:D015464|SNOMEDCT_US:63364005|SNOMEDCT_US:92818009|UMLS:C0023473	A myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without the loss of their capacity to differentiate.	http://purl.obolibrary.org/obo/HP_0005506		Chronic myelogenous leukaemia|Chronic myelocytic leukemia|Chronic myeloid leukemia
OBO:HP_0005507	Hemoglobin Barts	biolink:OntologyClass	hp	UMLS:C3539063	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.	http://purl.obolibrary.org/obo/HP_0005507		Hb Barts|Haemoglobin Barts
OBO:HP_0005508	Monoclonal immunoglobulin M proteinemia	biolink:OntologyClass	hp	MSH:D008258|SNOMEDCT_US:190817009|SNOMEDCT_US:190818004|SNOMEDCT_US:35562000|UMLS:C0024419	Presence of a monoclonal immunoglobulin M protein in the serum.	http://purl.obolibrary.org/obo/HP_0005508		Waldenstrom macroglobulinemia
OBO:HP_0005510	Transient erythroblastopenia	biolink:OntologyClass	hp	UMLS:C4082199	A transient reduction in the number of erythroblasts in the circulation.	http://purl.obolibrary.org/obo/HP_0005510		Transient decrease in blood erythrocyte number
OBO:HP_0005511	Heinz body anemia	biolink:OntologyClass	hp	MSH:C563030|UMLS:C0700299	Anemia characterized by abnormal intracellular inclusions, composed of denatured hemoglobin, found on the membrane of red blood cells.	http://purl.obolibrary.org/obo/HP_0005511		Heinz body anaemia
OBO:HP_0005512	Impaired neutrophil killing of staphylococci	biolink:OntologyClass	hp	UMLS:C4025188	A reduction in the ability of neutrophils to kill the gram-positive bacteria, staphylococcus, which is commonly known as staph.	http://purl.obolibrary.org/obo/HP_0005512		
OBO:HP_0005513	Increased megakaryocyte count	biolink:OntologyClass	hp	UMLS:C4025187	Increased megakaryocyte number, i.e., of platelet precursor cells, present in the bone marrow.	http://purl.obolibrary.org/obo/HP_0005513		
OBO:HP_0005517	T-cell lymphoma/leukemia	biolink:OntologyClass	hp	UMLS:C4025186	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.	http://purl.obolibrary.org/obo/HP_0005517		
OBO:HP_0005518	Increased mean corpuscular volume	biolink:OntologyClass	hp	UMLS:C0855791	Larger than normal size of erythrocytes.	http://purl.obolibrary.org/obo/HP_0005518		Increased MCV|Erythrocyte macrocytosis
OBO:HP_0005520	Chronic disseminated intravascular coagulation	biolink:OntologyClass	hp	UMLS:C1862184	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.	http://purl.obolibrary.org/obo/HP_0005520		Chronic consumption coagulopathy|Compensated disseminated intravascular coagulation
OBO:HP_0005521	Disseminated intravascular coagulation	biolink:OntologyClass	hp	MSH:D004211|SNOMEDCT_US:67406007|UMLS:C0012739	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.	http://purl.obolibrary.org/obo/HP_0005521		
OBO:HP_0005522	Pyridoxine-responsive sideroblastic anemia	biolink:OntologyClass	hp	SNOMEDCT_US:191260004|SNOMEDCT_US:25443007|UMLS:C0272027	A type of sideroblastic anemia that is alleviated by pyridoxine (vitamin B-6) treatment.	http://purl.obolibrary.org/obo/HP_0005522		Pyridoxine-responsive sideroblastic anaemia
OBO:HP_0005523	Lymphoproliferative disorder	biolink:OntologyClass	hp	MSH:D008232|SNOMEDCT_US:277466009|SNOMEDCT_US:414629003|SNOMEDCT_US:77121009|SNOMEDCT_US:84631004|UMLS:C0024314		http://purl.obolibrary.org/obo/HP_0005523		Lymphoproliferative disorders
OBO:HP_0005524	Macrocytic hemolytic disease	biolink:OntologyClass	hp	UMLS:C4025185		http://purl.obolibrary.org/obo/HP_0005524		
OBO:HP_0005525	Spontaneous hemolytic crises	biolink:OntologyClass	hp	UMLS:C4025184		http://purl.obolibrary.org/obo/HP_0005525		
OBO:HP_0005526	Lymphoid leukemia	biolink:OntologyClass	hp	MSH:D007945|SNOMEDCT_US:188725004|SNOMEDCT_US:32280000|UMLS:C0023448	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.	http://purl.obolibrary.org/obo/HP_0005526		Lymphoid leukaemia
OBO:HP_0005527	Reduced kininogen activity	biolink:OntologyClass	hp	MSH:C537060|SNOMEDCT_US:27312002|UMLS:C0272340	Reduction in the amount of kininogen, which functions as a cofactor in the contact phase of the intrinsic blood coagulation cascade.	http://purl.obolibrary.org/obo/HP_0005527		Fitzgerald factor deficiency|Kininogen deficiency|Williams factor deficiency|Williams-Fitzgerald-Flaujeac factor deficiency
OBO:HP_0005528	Bone marrow hypocellularity	biolink:OntologyClass	hp	UMLS:C1855710	A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat.	http://purl.obolibrary.org/obo/HP_0005528		Bone marrow failure|Bone marrow hypoplasia|Hypoplastic bone marrow
OBO:HP_0005531	Biphenotypic acute leukemia	biolink:OntologyClass	hp	MSH:D015456|SNOMEDCT_US:128818009|SNOMEDCT_US:278453007|UMLS:C0023464	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.	http://purl.obolibrary.org/obo/HP_0005531		Acute biphenotypic leukaemia|Biphenotypic acute leukaemia|Myeloid/lymphoid leukemia
OBO:HP_0005532	Macrocytic dyserythropoietic anemia	biolink:OntologyClass	hp	UMLS:C4025183		http://purl.obolibrary.org/obo/HP_0005532		Macrocytic dyserythropoietic anaemia
OBO:HP_0005534	Transient myeloproliferative syndrome	biolink:OntologyClass	hp	MSH:C563551|SNOMEDCT_US:450934005|UMLS:C1834582	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.	http://purl.obolibrary.org/obo/HP_0005534		TMD|Transient leukemia of Down syndrome|Transient myeloproliferative disorder
OBO:HP_0005535	Exercise-induced hemolysis	biolink:OntologyClass	hp	UMLS:C4025182	A form of hemolytic anemia that can be triggered by exertion.	http://purl.obolibrary.org/obo/HP_0005535		
OBO:HP_0005537	Decreased mean platelet volume	biolink:OntologyClass	hp	UMLS:C1096368|UMLS:C1833182	Average platelet volume below the lower limit of the normal reference interval.	http://purl.obolibrary.org/obo/HP_0005537		Small platelet size|Small platelets|Small platelets size
OBO:HP_0005539	T cell chronic lymphocytic lymphoma/leukemia	biolink:OntologyClass	hp	UMLS:C4025181	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.	http://purl.obolibrary.org/obo/HP_0005539		
OBO:HP_0005540	Red blood cell keratocytosis	biolink:OntologyClass	hp	UMLS:C4021635	A form of poikilocytosis in which the abnormally shaped erythrocytes have notches that results in projections that look like horns.	http://purl.obolibrary.org/obo/HP_0005540		RBC keratocytosis|Distorted red blood cells resembling keratocytes
OBO:HP_0005541	Congenital agranulocytosis	biolink:OntologyClass	hp	MSH:C537592|SNOMEDCT_US:89655007|UMLS:C1853118	Congenital onset of a marked decrease in the number of granulocytes.	http://purl.obolibrary.org/obo/HP_0005541		
OBO:HP_0005542	Prolonged whole-blood clotting time	biolink:OntologyClass	hp	UMLS:C0151563	An abnormal prolongation (delay) in the time required by whole blood to produce a visible clot.	http://purl.obolibrary.org/obo/HP_0005542		Prolonged clotting time
OBO:HP_0005543	Reduced protein C activity	biolink:OntologyClass	hp	MSH:D020151|SNOMEDCT_US:76407009|UMLS:C0398625	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.	http://purl.obolibrary.org/obo/HP_0005543		Protein C deficiency
OBO:HP_0005546	Increased red cell osmotic resistance	biolink:OntologyClass	hp	UMLS:C1858628		http://purl.obolibrary.org/obo/HP_0005546		
OBO:HP_0005547	Myeloproliferative disorder	biolink:OntologyClass	hp	MSH:D009196|SNOMEDCT_US:414794006|SNOMEDCT_US:425333006|UMLS:C0027022	Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential.	http://purl.obolibrary.org/obo/HP_0005547		
OBO:HP_0005548	Megakaryocytopenia	biolink:OntologyClass	hp	UMLS:C1858312	A reduced count of megakaryocytes.	http://purl.obolibrary.org/obo/HP_0005548		
OBO:HP_0005549	obsolete Congenital neutropenia	biolink:OntologyClass	hp	MSH:C537592|SNOMEDCT_US:89655007|UMLS:C1853118	A form of neutropenia with congenital onset.	http://purl.obolibrary.org/obo/HP_0005549		Low blood neutrophil level since birth
OBO:HP_0005550	Chronic lymphatic leukemia	biolink:OntologyClass	hp	MSH:D015451|SNOMEDCT_US:277473004|SNOMEDCT_US:51092000|SNOMEDCT_US:92814006|UMLS:C0023434	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.	http://purl.obolibrary.org/obo/HP_0005550		Chronic lymphatic leukaemia|Chronic lymphocytic leukemia
OBO:HP_0005556	Abnormality of the metopic suture	biolink:OntologyClass	hp	UMLS:C4025180	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".	http://purl.obolibrary.org/obo/HP_0005556		
OBO:HP_0005557	Abnormality of the zygomatic arch	biolink:OntologyClass	hp	UMLS:C4025179	An abnormality of the zygomatic arch, also known as the cheek bone.	http://purl.obolibrary.org/obo/HP_0005557		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
OBO:HP_0005558	Chronic leukemia	biolink:OntologyClass	hp	SNOMEDCT_US:128933000|SNOMEDCT_US:92812005|UMLS:C1279296|UMLS:C4280478	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.	http://purl.obolibrary.org/obo/HP_0005558		Chronic blood cancer|Chronic leukaemia
OBO:HP_0005559	Abnormality of the kinin-kallikrein system	biolink:OntologyClass	hp	UMLS:C4025178		http://purl.obolibrary.org/obo/HP_0005559		
OBO:HP_0005560	Imbalanced hemoglobin synthesis	biolink:OntologyClass	hp	UMLS:C4025177	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.	http://purl.obolibrary.org/obo/HP_0005560		Imbalanced Hb synthesis|Imbalanced haemoglobin synthesis
OBO:HP_0005561	Abnormality of bone marrow cell morphology	biolink:OntologyClass	hp	MSH:D001855|SNOMEDCT_US:127035006|UMLS:C0005956|UMLS:C4021634	An anomaly of the form or number of cells in the bone marrow.	http://purl.obolibrary.org/obo/HP_0005561		Bone marrow disease|Anomaly of the bone marrow cells
OBO:HP_0005562	Multiple renal cysts	biolink:OntologyClass	hp	SNOMEDCT_US:253883006|UMLS:C0431718	The presence of many cysts in the kidney.	http://purl.obolibrary.org/obo/HP_0005562		Multiple kidney cysts
OBO:HP_0005563	Decreased numbers of nephrons	biolink:OntologyClass	hp	UMLS:C1841994|UMLS:C2673888	A reduction in the count of nephrons per kidney.	http://purl.obolibrary.org/obo/HP_0005563		Oligonephronia|Decreased numbers of glomeruli
OBO:HP_0005564	Absence of renal corticomedullary differentiation	biolink:OntologyClass	hp	UMLS:C1849765	A lack of differentiation between renal cortex and medulla on diagnostic imaging.	http://purl.obolibrary.org/obo/HP_0005564		Absent renal corticomedullary differentiation|Loss of corticomedullary differentiation
OBO:HP_0005565	Reduced renal corticomedullary differentiation	biolink:OntologyClass	hp	UMLS:C3807131	Reduced differentiation between renal cortex and medulla on diagnostic imaging.	http://purl.obolibrary.org/obo/HP_0005565		Loss of definition of corticomedullary differentiation
OBO:HP_0005567	Renal magnesium wasting	biolink:OntologyClass	hp	MSH:C537152|UMLS:C1835171	High urine magnesium in the presence of hypomagnesemia.	http://purl.obolibrary.org/obo/HP_0005567		
OBO:HP_0005571	Increased renal tubular phosphate reabsorption	biolink:OntologyClass	hp	UMLS:C1968910		http://purl.obolibrary.org/obo/HP_0005571		Increased percent tubular reabsorption of phosphorus
OBO:HP_0005572	Decreased renal tubular phosphate excretion	biolink:OntologyClass	hp	UMLS:C1968899		http://purl.obolibrary.org/obo/HP_0005572		
OBO:HP_0005574	Non-acidotic proximal tubulopathy	biolink:OntologyClass	hp	UMLS:C4025176	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.	http://purl.obolibrary.org/obo/HP_0005574		
OBO:HP_0005575	Hemolytic-uremic syndrome	biolink:OntologyClass	hp	MSH:D006463|SNOMEDCT_US:111407006|UMLS:C0019061		http://purl.obolibrary.org/obo/HP_0005575		Hemolytic uremic syndrome
OBO:HP_0005576	Tubulointerstitial fibrosis	biolink:OntologyClass	hp	UMLS:C1969372	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.	http://purl.obolibrary.org/obo/HP_0005576		Tubulointerstitial renal fibrosis|Tubulointerstitial scarring
OBO:HP_0005579	Impaired reabsorption of chloride	biolink:OntologyClass	hp	UMLS:C1846349	Any impairment of reabsorption of chloride by the kidney in order to not lose too much chloride in the urine.	http://purl.obolibrary.org/obo/HP_0005579		Impaired reabsorption of Cl|Impaired reabsorption of Cl-
OBO:HP_0005580	Duplication of renal pelvis	biolink:OntologyClass	hp	UMLS:C1839269	A duplication of the renal pelvis.	http://purl.obolibrary.org/obo/HP_0005580		
OBO:HP_0005583	Tubular basement membrane disintegration	biolink:OntologyClass	hp	UMLS:C1968618	DIsruption and breaking up of the basement membrane of the tubules of the kidney.	http://purl.obolibrary.org/obo/HP_0005583		Disintegration of the tubular basement membrane
OBO:HP_0005584	Renal cell carcinoma	biolink:OntologyClass	hp	MSH:D002292|NCIT:C2916|SNOMEDCT_US:41607009|SNOMEDCT_US:702391001|UMLS:C0007134	A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule.	http://purl.obolibrary.org/obo/HP_0005584		Cancer starting in small tubes in kidneys|Hypernephroma|Renal carcinoma
OBO:HP_0005585	Spotty hyperpigmentation	biolink:OntologyClass	hp	UMLS:C3806179		http://purl.obolibrary.org/obo/HP_0005585		Spotty increased pigmentation|Patchy hyperpigmentation
OBO:HP_0005586	Hyperpigmentation in sun-exposed areas	biolink:OntologyClass	hp	UMLS:C3805877		http://purl.obolibrary.org/obo/HP_0005586		Increased pigmentation in sun-exposed areas|Hyperpigmentation of exposed areas
OBO:HP_0005587	Profuse pigmented skin lesions	biolink:OntologyClass	hp	UMLS:C1834424		http://purl.obolibrary.org/obo/HP_0005587		
OBO:HP_0005588	Patchy palmoplantar keratoderma	biolink:OntologyClass	hp	UMLS:C4021633	A focal type of palmoplantar keratoderma in which only certain areas of the palms and soles are affected.	http://purl.obolibrary.org/obo/HP_0005588		Palmoplantar keratoderma, patchy
OBO:HP_0005590	Spotty hypopigmentation	biolink:OntologyClass	hp	UMLS:C3806178		http://purl.obolibrary.org/obo/HP_0005590		Patchy hypopigmentation|Spotty decreased pigmentation|Patchy depigmentation
OBO:HP_0005592	Giant melanosomes in melanocytes	biolink:OntologyClass	hp	UMLS:C3806221	The presence of large spherical melanosomes (1 to 6 micrometer in diameter) in the cytoplasm of melanocytes.	http://purl.obolibrary.org/obo/HP_0005592		Macromelanosomes
OBO:HP_0005593	Macular hypopigmented whorls, streaks, and patches	biolink:OntologyClass	hp	UMLS:C3806616		http://purl.obolibrary.org/obo/HP_0005593		
OBO:HP_0005595	Generalized hyperkeratosis	biolink:OntologyClass	hp	UMLS:C1969913		http://purl.obolibrary.org/obo/HP_0005595		Generalised hyperkeratosis|Hyperkeratosis, generalized
OBO:HP_0005597	Congenital alopecia totalis	biolink:OntologyClass	hp	UMLS:C4025175	Loss of all scalp hair with congenital onset.	http://purl.obolibrary.org/obo/HP_0005597		
OBO:HP_0005598	Facial telangiectasia in butterfly midface distribution	biolink:OntologyClass	hp	UMLS:C4021632	Telangiectases (small dilated blood vessels) located near the surface of the skin in a butterfly midface distribution.	http://purl.obolibrary.org/obo/HP_0005598		Butterfly facial telangiectasia
OBO:HP_0005599	Hypopigmentation of hair	biolink:OntologyClass	hp	UMLS:C3278401		http://purl.obolibrary.org/obo/HP_0005599	hposlim_core	Loss of hair color|Hair hypopigmentation
OBO:HP_0005600	Congenital giant melanocytic nevus	biolink:OntologyClass	hp	MSH:C536819|SNOMEDCT_US:10291008|SNOMEDCT_US:254815002|UMLS:C1842036	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.	http://purl.obolibrary.org/obo/HP_0005600		Giant pigmented mole|Giant pigmented hairy nevus|Giant pigmented nevus
OBO:HP_0005602	Progressive vitiligo	biolink:OntologyClass	hp	UMLS:C3806428		http://purl.obolibrary.org/obo/HP_0005602		
OBO:HP_0005603	Numerous congenital melanocytic nevi	biolink:OntologyClass	hp	UMLS:C3806415		http://purl.obolibrary.org/obo/HP_0005603		
OBO:HP_0005605	Large cafe-au-lait macules with irregular margins	biolink:OntologyClass	hp	UMLS:C4025174	Large hypermelanotic macules with jagged borders.	http://purl.obolibrary.org/obo/HP_0005605		
OBO:HP_0005606	Hyperpigmented nevi and streak	biolink:OntologyClass	hp	UMLS:C3805692		http://purl.obolibrary.org/obo/HP_0005606		
OBO:HP_0005607	Abnormal tracheobronchial morphology	biolink:OntologyClass	hp	Fyler:4232|UMLS:C4021631		http://purl.obolibrary.org/obo/HP_0005607		Tracheobronchial anomalies
OBO:HP_0005608	Bilobate gallbladder	biolink:OntologyClass	hp	UMLS:C1846422	The presence of a bilobed gallbladder, related to a duplication of the gallbladder primordium.	http://purl.obolibrary.org/obo/HP_0005608		Bilobed gallbladder|Double gallbladder|Gallbladder duplication
OBO:HP_0005609	Gallbladder dysfunction	biolink:OntologyClass	hp	SNOMEDCT_US:51047007|UMLS:C0232769		http://purl.obolibrary.org/obo/HP_0005609		Gallbladder dysfunction
OBO:HP_0005612	Arthrogryposis-like hand anomaly	biolink:OntologyClass	hp	UMLS:C4025173		http://purl.obolibrary.org/obo/HP_0005612		
OBO:HP_0005613	Aplasia/hypoplasia of the femur	biolink:OntologyClass	hp	UMLS:C1851310	Absence or underdevelopment of the femur.	http://purl.obolibrary.org/obo/HP_0005613		Absent/small thighbone|Absent/underdeveloped thighbone|Hypoplastic to absent femora|Hypoplastic/aplastic femora
OBO:HP_0005616	Accelerated skeletal maturation	biolink:OntologyClass	hp	SNOMEDCT_US:123982003|UMLS:C0545053	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.	http://purl.obolibrary.org/obo/HP_0005616		Advanced bone age|Early bone maturation
OBO:HP_0005617	Bilateral camptodactyly	biolink:OntologyClass	hp	UMLS:C4021830		http://purl.obolibrary.org/obo/HP_0005617		
OBO:HP_0005619	Thoracolumbar kyphosis	biolink:OntologyClass	hp	UMLS:C1855418	Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance.	http://purl.obolibrary.org/obo/HP_0005619		Thoracolumbar gibbus|Thoracolumbar gibbus deformity
OBO:HP_0005620	Hypermobility of interphalangeal joints	biolink:OntologyClass	hp	UMLS:C4025172	The ability of the interphalangeal joints to move beyond their normal range of motion.	http://purl.obolibrary.org/obo/HP_0005620		Increased mobility of hinge joints
OBO:HP_0005621	Trapezoidal shaped vertebral bodies	biolink:OntologyClass	hp	UMLS:C4025171		http://purl.obolibrary.org/obo/HP_0005621		
OBO:HP_0005622	Broad long bones	biolink:OntologyClass	hp	UMLS:C4021630	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.	http://purl.obolibrary.org/obo/HP_0005622		Broad long bones|Wide long bones|Widened long bones
OBO:HP_0005623	Absent ossification of calvaria	biolink:OntologyClass	hp	UMLS:C4021629	Absent ossification of the calvaria (vault of the skull).	http://purl.obolibrary.org/obo/HP_0005623		Absent bone maturation of skullcap|Absent ossification of skull vault
OBO:HP_0005625	Osteoporosis of vertebrae	biolink:OntologyClass	hp	UMLS:C4025170	Osteoporosis affecting predominantly the vertebrae.	http://purl.obolibrary.org/obo/HP_0005625		
OBO:HP_0005626	Posterior fusion of lumbosacral vertebrae	biolink:OntologyClass	hp	UMLS:C4025169	Bony fusion of the posterior part of the L5 vertebral body with the sacrum.	http://purl.obolibrary.org/obo/HP_0005626		
OBO:HP_0005627	Type D brachydactyly	biolink:OntologyClass	hp	MSH:C562420|UMLS:C0220664	This type of brachydactyly is characterized by short and broad terminal phalanges of the thumbs and big toes.	http://purl.obolibrary.org/obo/HP_0005627		Brachydactyly type D
OBO:HP_0005632	Absent forearm	biolink:OntologyClass	hp	UMLS:C1408532		http://purl.obolibrary.org/obo/HP_0005632		Absent forearm|Absent forearms
OBO:HP_0005638	Decreased anterioposterior diameter of lumbar vertebral bodies	biolink:OntologyClass	hp	UMLS:C4025168		http://purl.obolibrary.org/obo/HP_0005638		
OBO:HP_0005639	Hyperextensible hand joints	biolink:OntologyClass	hp	UMLS:C1856877	The ability of the joints of the hand to move beyond their normal range of motion.	http://purl.obolibrary.org/obo/HP_0005639		
OBO:HP_0005640	Abnormal vertebral segmentation and fusion	biolink:OntologyClass	hp	UMLS:C4025167		http://purl.obolibrary.org/obo/HP_0005640		
OBO:HP_0005643	Short 3rd toe	biolink:OntologyClass	hp	UMLS:C4021628	Underdevelopment (hypoplasia) of the third toe.	http://purl.obolibrary.org/obo/HP_0005643		Short 3rd toe|Short third toe|Brachydactyly of third toes
OBO:HP_0005645	Intervertebral disk calcification	biolink:OntologyClass	hp	SNOMEDCT_US:240211000|UMLS:C0410607	The presence of abnormal calcium deposition of the intervertebral disk.	http://purl.obolibrary.org/obo/HP_0005645	hposlim_core	Intervertebral disc calcification|Multiple intervertebral disk calcifications
OBO:HP_0005648	Bilateral ulnar hypoplasia	biolink:OntologyClass	hp	UMLS:C4025166	Underdevelopment of the ulna on both sides.	http://purl.obolibrary.org/obo/HP_0005648		
OBO:HP_0005650	Cutaneous syndactyly between fingers 2 and 5	biolink:OntologyClass	hp	UMLS:C4025165	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.	http://purl.obolibrary.org/obo/HP_0005650		
OBO:HP_0005652	Cortical sclerosis	biolink:OntologyClass	hp	UMLS:C4025164	Sclerosis (abnormal hardening) of cortical bone, characterized by increased radiodensity.	http://purl.obolibrary.org/obo/HP_0005652		
OBO:HP_0005653	Moderate generalized osteoporosis	biolink:OntologyClass	hp	UMLS:C4025163	Moderate osteoporosis.	http://purl.obolibrary.org/obo/HP_0005653		Moderate generalised osteoporosis
OBO:HP_0005655	Multiple digital exostoses	biolink:OntologyClass	hp	UMLS:C4025162	Multiple exostoses originating in the fingers and toes.	http://purl.obolibrary.org/obo/HP_0005655		
OBO:HP_0005656	Positional foot deformity	biolink:OntologyClass	hp	UMLS:C4025161	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.	http://purl.obolibrary.org/obo/HP_0005656		
OBO:HP_0005659	Thoracic kyphoscoliosis	biolink:OntologyClass	hp	UMLS:C4015465		http://purl.obolibrary.org/obo/HP_0005659		
OBO:HP_0005661	Salmonella osteomyelitis	biolink:OntologyClass	hp	SNOMEDCT_US:6803002|UMLS:C0152491	Osteomyelitis caused by infection with the bacteria, salmonella.	http://purl.obolibrary.org/obo/HP_0005661		Salmonella bone infection
OBO:HP_0005665	Massively thickened long bone cortices	biolink:OntologyClass	hp	UMLS:C4025160	Extreme thickening of the cortex of long bones.	http://purl.obolibrary.org/obo/HP_0005665		
OBO:HP_0005667	Os odontoideum	biolink:OntologyClass	hp	SNOMEDCT_US:445242006|UMLS:C2919848	Separation of the odontoid process from the body of the axis.	http://purl.obolibrary.org/obo/HP_0005667		
OBO:HP_0005671	Bilateral intracranial calcifications	biolink:OntologyClass	hp	UMLS:C4025159	Deposition of calcium salts on both sides of the brain.	http://purl.obolibrary.org/obo/HP_0005671		
OBO:HP_0005676	Rudimentary postaxial polydactyly of hands	biolink:OntologyClass	hp	UMLS:C4025158		http://purl.obolibrary.org/obo/HP_0005676		
OBO:HP_0005678	Anterior atlanto-occipital dislocation	biolink:OntologyClass	hp	UMLS:C4025157		http://purl.obolibrary.org/obo/HP_0005678		
OBO:HP_0005679	Dupuytren contracture	biolink:OntologyClass	hp	MSH:D004387|SNOMEDCT_US:203045001|SNOMEDCT_US:203047009|SNOMEDCT_US:274142002|SNOMEDCT_US:410813000|UMLS:C0013312	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.	http://purl.obolibrary.org/obo/HP_0005679		
OBO:HP_0005680	Tongue-like lumbar vertebral deformities	biolink:OntologyClass	hp	UMLS:C4025156	A tongue-like protusion from the anterior aspect of lumbar vertebral bodies.	http://purl.obolibrary.org/obo/HP_0005680		
OBO:HP_0005681	Juvenile rheumatoid arthritis	biolink:OntologyClass	hp	SNOMEDCT_US:410795001|UMLS:C3714757		http://purl.obolibrary.org/obo/HP_0005681		Juvenile RA|Juvenile idiopathic arthritis|Rheumatoid arthritis, juvenile
OBO:HP_0005682	Talocalcaneal synostosis	biolink:OntologyClass	hp	UMLS:C4025155|UMLS:C4255214		http://purl.obolibrary.org/obo/HP_0005682		Fusion of foot joint|Fusion of the subtalar joint
OBO:HP_0005684	Distal arthrogryposis	biolink:OntologyClass	hp	SNOMEDCT_US:24269006|UMLS:C0265213	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.	http://purl.obolibrary.org/obo/HP_0005684		
OBO:HP_0005686	Patchy osteosclerosis	biolink:OntologyClass	hp	UMLS:C1855845	Patchy (irregular) increase in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays.	http://purl.obolibrary.org/obo/HP_0005686		Uneven increase in bone density|Patchy increase of bone mineral density
OBO:HP_0005687	Deformed humeral heads	biolink:OntologyClass	hp	UMLS:C4025154		http://purl.obolibrary.org/obo/HP_0005687		Deformed head of long bone in upper arm
OBO:HP_0005688	Dysplastic distal thumb phalanges with a central hole	biolink:OntologyClass	hp	UMLS:C4025153		http://purl.obolibrary.org/obo/HP_0005688		
OBO:HP_0005689	Dermatoglyphic ridges abnormal	biolink:OntologyClass	hp	UMLS:C4025152		http://purl.obolibrary.org/obo/HP_0005689		
OBO:HP_0005692	Joint hyperflexibility	biolink:OntologyClass	hp	UMLS:C3553764	Increased mobility and flexibility in the joint due to the tension in tissues such as ligaments and muscles.	http://purl.obolibrary.org/obo/HP_0005692		Joints move beyond expected range of motion
OBO:HP_0005694	Partial fusion of proximal row of carpal bones	biolink:OntologyClass	hp	UMLS:C3152021		http://purl.obolibrary.org/obo/HP_0005694		Partial fusion of innermost row of wrist bones
OBO:HP_0005696	Postaxial polydactyly type A	biolink:OntologyClass	hp	MSH:C562429|SNOMEDCT_US:715704001|UMLS:C3887487	Supernumerary digits located at the ulnar side of the hand with a complete extra finger and extra metacarpal.	http://purl.obolibrary.org/obo/HP_0005696		
OBO:HP_0005700	Increased bone density with cystic changes	biolink:OntologyClass	hp	UMLS:C4025151		http://purl.obolibrary.org/obo/HP_0005700		
OBO:HP_0005701	Multiple enchondromatosis	biolink:OntologyClass	hp	MSH:D004687|SNOMEDCT_US:268274005|UMLS:C0014084		http://purl.obolibrary.org/obo/HP_0005701		
OBO:HP_0005707	Bilateral triphalangeal thumbs	biolink:OntologyClass	hp	UMLS:C4021627	A bilateral form of triphalangeal thumb.	http://purl.obolibrary.org/obo/HP_0005707		Bilateral digitalized thumb
OBO:HP_0005709	2-3 toe cutaneous syndactyly	biolink:OntologyClass	hp	SNOMEDCT_US:205145001|UMLS:C0432040		http://purl.obolibrary.org/obo/HP_0005709		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
OBO:HP_0005715	Flattened knee epiphyses	biolink:OntologyClass	hp	UMLS:C4025150		http://purl.obolibrary.org/obo/HP_0005715		Flattened end part of knee bone
OBO:HP_0005716	Lethal skeletal dysplasia	biolink:OntologyClass	hp	UMLS:C4021626		http://purl.obolibrary.org/obo/HP_0005716		Lethal dwarfism identifiable at birth
OBO:HP_0005720	Shortening of all metacarpals	biolink:OntologyClass	hp	UMLS:C4025149	Abnormal reduction in length of all metacarpal bones.	http://purl.obolibrary.org/obo/HP_0005720		
OBO:HP_0005722	Hyperextensible thumb	biolink:OntologyClass	hp	UMLS:C4025148	The ability of the thumb joints to move beyond their normal range of motion.	http://purl.obolibrary.org/obo/HP_0005722		Double jointed thumb
OBO:HP_0005723	Shoe-shaped sella turcica	biolink:OntologyClass	hp	UMLS:C4025147		http://purl.obolibrary.org/obo/HP_0005723		
OBO:HP_0005725	Nonopposable triphalangeal thumb	biolink:OntologyClass	hp	MSH:C536562|UMLS:C2931238	A form of triphalangeal thumb that cannot be placed opposite the fingers of the same hand.	http://purl.obolibrary.org/obo/HP_0005725		
OBO:HP_0005726	Thumbs hypoplastic with bulbous tips	biolink:OntologyClass	hp	UMLS:C4025146		http://purl.obolibrary.org/obo/HP_0005726		Short thumbs with bulbous tips
OBO:HP_0005731	Cortical irregularity	biolink:OntologyClass	hp	UMLS:C4025145	An abnormal irregularity of cortical bone.	http://purl.obolibrary.org/obo/HP_0005731		
OBO:HP_0005733	Spinal stenosis with reduced interpedicular distance	biolink:OntologyClass	hp	UMLS:C4021625	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).	http://purl.obolibrary.org/obo/HP_0005733		Spinal stenosis due to short pedicles
OBO:HP_0005736	Short tibia	biolink:OntologyClass	hp	UMLS:C1850259|UMLS:C1855277	Underdevelopment (reduced size) of the tibia.	http://purl.obolibrary.org/obo/HP_0005736		Short shinbone|Short skankbone|Hypoplasia of the tibia|Hypoplastic tibia|Short tibiae|Shortening of the shankbone|Shortening of the shinbone|Shortening of the tibia
OBO:HP_0005739	Posterior subluxation of radial head	biolink:OntologyClass	hp	UMLS:C3149878	Partial dislocation of the head of the radius in the posterior direction.	http://purl.obolibrary.org/obo/HP_0005739		
OBO:HP_0005743	Avascular necrosis of the capital femoral epiphysis	biolink:OntologyClass	hp	ICD-10:M91.1|MSH:D007873|SNOMEDCT_US:111255008|SNOMEDCT_US:240241003|UMLS:C0023234	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.	http://purl.obolibrary.org/obo/HP_0005743		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
OBO:HP_0005744	obsolete Generalized osteoporosis with pathologic fractures	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0005744		
OBO:HP_0005745	Congenital foot contractures	biolink:OntologyClass	hp	UMLS:C4025144		http://purl.obolibrary.org/obo/HP_0005745		
OBO:HP_0005746	Osteosclerosis of the base of the skull	biolink:OntologyClass	hp	UMLS:C4021624	An increase in bone density affecting the basicranium (base of the skull).	http://purl.obolibrary.org/obo/HP_0005746		Osteosclerosis of the skull base
OBO:HP_0005747	Easily subluxated first metacarpophalangeal joints	biolink:OntologyClass	hp	UMLS:C4025143		http://purl.obolibrary.org/obo/HP_0005747		
OBO:HP_0005750	Contractures of the joints of the lower limbs	biolink:OntologyClass	hp	UMLS:C1859523		http://purl.obolibrary.org/obo/HP_0005750		Contractures, lower limbs
OBO:HP_0005752	Flattened moderately deformed vertebrae	biolink:OntologyClass	hp	UMLS:C4025142		http://purl.obolibrary.org/obo/HP_0005752		
OBO:HP_0005756	Neonatal epiphyseal stippling	biolink:OntologyClass	hp	UMLS:C4021623	The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses during the neonatal period.	http://purl.obolibrary.org/obo/HP_0005756		Speckled calcifications in bone end parts in neonates|Epiphyseal stippling in neonates
OBO:HP_0005758	Basilar impression	biolink:OntologyClass	hp	MSH:D010985|SNOMEDCT_US:86587003|UMLS:C0032209	Abnormal elevation of the floor of the posterior fossa including occipital condyles and foramen magnum.	http://purl.obolibrary.org/obo/HP_0005758		
OBO:HP_0005759	Small flat posterior fossa	biolink:OntologyClass	hp	UMLS:C4025141	An abnormally small and flat configuration of the posterior cranial fossa.	http://purl.obolibrary.org/obo/HP_0005759		Small and flat posterior fossa of skull|Small and flat posterior skull bones
OBO:HP_0005764	Polyarticular arthritis	biolink:OntologyClass	hp	MSH:D001168|SNOMEDCT_US:416956002|SNOMEDCT_US:417373000|UMLS:C0162323		http://purl.obolibrary.org/obo/HP_0005764		
OBO:HP_0005765	Sacral meningocele	biolink:OntologyClass	hp	SNOMEDCT_US:95478002|UMLS:C0521556		http://purl.obolibrary.org/obo/HP_0005765		
OBO:HP_0005766	Disproportionate shortening of the tibia	biolink:OntologyClass	hp	UMLS:C3806516		http://purl.obolibrary.org/obo/HP_0005766		Disproportionate shortening of the shankbone|Disproportionate shortening of the shinbone|Marked shortening of tibia
OBO:HP_0005767	1-2 toe complete cutaneous syndactyly	biolink:OntologyClass	hp	UMLS:C4025140		http://purl.obolibrary.org/obo/HP_0005767		
OBO:HP_0005768	2-4 toe cutaneous syndactyly	biolink:OntologyClass	hp	UMLS:C4021622	A soft tissue continuity in the anteroposterior axis between the toes 2, 3, and 4.	http://purl.obolibrary.org/obo/HP_0005768		Webbed 2nd, 3rd and 4th toes|Webbed second, third and fourth toes|Soft tissue syndactyly of toes 2, 3, and 4
OBO:HP_0005769	Fifth finger distal phalanx clinodactyly	biolink:OntologyClass	hp	UMLS:C4025139|UMLS:C4280477	Bending or curvature of the distal phalanx of little finger in the radial direction (i.e., towards the 4th finger).	http://purl.obolibrary.org/obo/HP_0005769		Curvature of outermost bone of little finger|Curvature of outermost bone of pinkie finger|Curvature of outermost bone of pinky finger
OBO:HP_0005772	Aplasia/Hypoplasia of the tibia	biolink:OntologyClass	hp	UMLS:C1969181	Absence or underdevelopment of the tibia.	http://purl.obolibrary.org/obo/HP_0005772		Absent/small shankbone|Absent/small shinbone|Absent/underdeveloped shankbone|Absent/underdeveloped shinbone|Absent/hypoplastic tibia|Aplastic/hypoplastic tibia
OBO:HP_0005773	Short forearm	biolink:OntologyClass	hp	UMLS:C1855299	Underdevelopment of both forearm bones, the ulna and the radius, resulting in a shortened forearm.	http://purl.obolibrary.org/obo/HP_0005773		Short forearm
OBO:HP_0005775	Multiple skeletal anomalies	biolink:OntologyClass	hp	UMLS:C4025138		http://purl.obolibrary.org/obo/HP_0005775		
OBO:HP_0005776	Carpal bone malsegmentation	biolink:OntologyClass	hp	UMLS:C4025137		http://purl.obolibrary.org/obo/HP_0005776		
OBO:HP_0005780	Absent fourth finger distal interphalangeal crease	biolink:OntologyClass	hp	UMLS:C4021621	Absence of the distal interphalangeal flexion creases of the fourth finger.	http://purl.obolibrary.org/obo/HP_0005780		No fourth finger distal interphalangeal crease
OBO:HP_0005781	Contractures of the large joints	biolink:OntologyClass	hp	UMLS:C1859698		http://purl.obolibrary.org/obo/HP_0005781		
OBO:HP_0005787	Lumbar platyspondyly	biolink:OntologyClass	hp	UMLS:C4025136	A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the lumbar spine.	http://purl.obolibrary.org/obo/HP_0005787		
OBO:HP_0005788	Abnormal cervical myelogram	biolink:OntologyClass	hp	UMLS:C4025135		http://purl.obolibrary.org/obo/HP_0005788		
OBO:HP_0005789	Generalized osteosclerosis	biolink:OntologyClass	hp	UMLS:C1843331|UMLS:C4280476	An abnormal increase of bone mineral density with generalized involvement of the skeleton.	http://purl.obolibrary.org/obo/HP_0005789		Increased bone density in skeletal bones|Generalised osteosclerosis|Diffuse, symmetrical osteosclerosis|Osteosclerosis, diffuse symmetrical
OBO:HP_0005790	Short mandibular condyles	biolink:OntologyClass	hp	UMLS:C4025134|UMLS:C4280474|UMLS:C4280475		http://purl.obolibrary.org/obo/HP_0005790		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
OBO:HP_0005791	Cortical thickening of long bone diaphyses	biolink:OntologyClass	hp	UMLS:C4025133	Abnormal thickening of the cortex of the diaphyseal region of long bones.	http://purl.obolibrary.org/obo/HP_0005791		
OBO:HP_0005792	Short humerus	biolink:OntologyClass	hp	UMLS:C1832117	Underdevelopment of the humerus.	http://purl.obolibrary.org/obo/HP_0005792	hposlim_core	Short humerus|Short long bone of upper arm|Short upper arms|Humeral hypoplasia|Humeral shortening|Hypoplastic humerus|Short humeri
OBO:HP_0005793	Shortening of all distal phalanges of the toes	biolink:OntologyClass	hp	UMLS:C4025132	Abnormally short distal phalanx of toe of all toes.	http://purl.obolibrary.org/obo/HP_0005793		Shortening of all outermost bone of the toes
OBO:HP_0005794	obsolete Arterial disease of legs	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0005794		
OBO:HP_0005798	Posterior radial head dislocation	biolink:OntologyClass	hp	MSH:C566728|UMLS:C1867398	A dislocation of the head of the radius from its socket in the elbow joint in an posterior direction.	http://purl.obolibrary.org/obo/HP_0005798		
OBO:HP_0005802	Coalescence of tarsal bones	biolink:OntologyClass	hp	UMLS:C4025130		http://purl.obolibrary.org/obo/HP_0005802		
OBO:HP_0005807	Absent distal phalanges	biolink:OntologyClass	hp	UMLS:C1861339	Aplasia (absence) of the distal phalanges.	http://purl.obolibrary.org/obo/HP_0005807		Absent outermost digital bones
OBO:HP_0005815	Supernumerary ribs	biolink:OntologyClass	hp	SNOMEDCT_US:205460009|UMLS:C0345397	The presence of more than 12 rib pairs.	http://purl.obolibrary.org/obo/HP_0005815	hposlim_core	Extra ribs
OBO:HP_0005817	Postaxial polysyndactyly of foot	biolink:OntologyClass	hp	UMLS:C4021824	Combined syndactyly and polydactyly of the foot on the lateral side (i.e., on the side of the little toe).	http://purl.obolibrary.org/obo/HP_0005817		
OBO:HP_0005819	Short middle phalanx of finger	biolink:OntologyClass	hp	UMLS:C1846950	Short (hypoplastic) middle phalanx of finger, affecting one or more fingers.	http://purl.obolibrary.org/obo/HP_0005819		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
OBO:HP_0005820	Superior rib anomalies	biolink:OntologyClass	hp	UMLS:C4025129		http://purl.obolibrary.org/obo/HP_0005820		
OBO:HP_0005824	Clinodactyly of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4021620|UMLS:C4280473	Bending or curvature of a second toe in the tibial direction (i.e., towards the big toe).	http://purl.obolibrary.org/obo/HP_0005824		Curvature of 2nd toe|Clinodactyly of second toes
OBO:HP_0005825	Mixed sclerosis of humeral metaphyses	biolink:OntologyClass	hp	UMLS:C4025128		http://purl.obolibrary.org/obo/HP_0005825		
OBO:HP_0005828	Transient pulmonary infiltrates	biolink:OntologyClass	hp	UMLS:C3805920		http://purl.obolibrary.org/obo/HP_0005828		
OBO:HP_0005829	Maldevelopment of radioulnar joint	biolink:OntologyClass	hp	UMLS:C3149879		http://purl.obolibrary.org/obo/HP_0005829		
OBO:HP_0005830	Flexion contracture of toe	biolink:OntologyClass	hp	UMLS:C1406835	One or more bent (flexed) toe joints that cannot be straightened actively or passively.	http://purl.obolibrary.org/obo/HP_0005830		Contractures involving the toes|Contractures of the toes|Toe contractures
OBO:HP_0005831	Type B brachydactyly	biolink:OntologyClass	hp	MSH:C566196|UMLS:C1862112		http://purl.obolibrary.org/obo/HP_0005831		
OBO:HP_0005832	Dysharmonic delayed bone age	biolink:OntologyClass	hp	UMLS:C1859444	A type of dysharmonic skeletal maturation in which there is a delay in skeletal maturation whose degree differs markedly in different bones.	http://purl.obolibrary.org/obo/HP_0005832		
OBO:HP_0005833	obsolete Joint swelling onset late infancy	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0005833		
OBO:HP_0005834	obsolete Thumbs hypo/aplastic	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0005834		
OBO:HP_0005837	obsolete Joint dislocations in young adult	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0005837		
OBO:HP_0005841	Calcific stippling of infantile cartilaginous skeleton	biolink:OntologyClass	hp	UMLS:C1859135		http://purl.obolibrary.org/obo/HP_0005841		
OBO:HP_0005844	Rounded middle phalanx of finger	biolink:OntologyClass	hp	UMLS:C4025126	An abnormally round shape of the middle phalanx of the finger.	http://purl.obolibrary.org/obo/HP_0005844		Rounded middle bone of finger
OBO:HP_0005848	obsolete Bifid thumb distal phalanx	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0005848		
OBO:HP_0005849	Diffuse cerebral calcification	biolink:OntologyClass	hp	UMLS:C4025125	Generalized deposition of calcium salts within the brain.	http://purl.obolibrary.org/obo/HP_0005849		
OBO:HP_0005850	Congenital talipes calcaneovalgus	biolink:OntologyClass	hp	MSH:D005413|SNOMEDCT_US:205083002|SNOMEDCT_US:31668003|UMLS:C0152237		http://purl.obolibrary.org/obo/HP_0005850		
OBO:HP_0005852	Limited elbow extension and supination	biolink:OntologyClass	hp	UMLS:C4025124		http://purl.obolibrary.org/obo/HP_0005852		
OBO:HP_0005853	Congenital foot contraction deformities	biolink:OntologyClass	hp	UMLS:C4025123		http://purl.obolibrary.org/obo/HP_0005853		
OBO:HP_0005855	Multiple prenatal fractures	biolink:OntologyClass	hp	UMLS:C1853171	The presence of bone fractures in the prenatal period that are diagnosed at birth or before.	http://purl.obolibrary.org/obo/HP_0005855		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
OBO:HP_0005856	Ulnar radial head dislocation	biolink:OntologyClass	hp	UMLS:C4021619	A dislocation of the head of the radius from its socket in the elbow joint in an ulnar direction.	http://purl.obolibrary.org/obo/HP_0005856		Ulnar dislocation of radial heads
OBO:HP_0005857	Cervical spina bifida	biolink:OntologyClass	hp	SNOMEDCT_US:32232003|UMLS:C0266501		http://purl.obolibrary.org/obo/HP_0005857		
OBO:HP_0005863	Type E brachydactyly	biolink:OntologyClass	hp	MSH:C566194|UMLS:C1862102	In type E brachydactyly, shortening of the fingers is mainly in the metacarpals and metatarsals.	http://purl.obolibrary.org/obo/HP_0005863		
OBO:HP_0005864	Pseudoarthrosis	biolink:OntologyClass	hp	MSH:D011542|SNOMEDCT_US:31511007|SNOMEDCT_US:410818009|UMLS:C0033785	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").	http://purl.obolibrary.org/obo/HP_0005864		Pseudoarthroses
OBO:HP_0005866	Opposable triphalangeal thumb	biolink:OntologyClass	hp	UMLS:C4025122	A form of triphalangeal thumb that can be placed opposite the fingers of the same hand.	http://purl.obolibrary.org/obo/HP_0005866		
OBO:HP_0005867	Fused fourth and fifth metacarpals	biolink:OntologyClass	hp	UMLS:C1859768		http://purl.obolibrary.org/obo/HP_0005867		Fused 4th-5th long bones of hand|Fused 4th-5th metacarpals
OBO:HP_0005868	Metaphyseal enchondromatosis	biolink:OntologyClass	hp	UMLS:C4025121	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.	http://purl.obolibrary.org/obo/HP_0005868		
OBO:HP_0005871	Metaphyseal chondrodysplasia	biolink:OntologyClass	hp	SNOMEDCT_US:28681006|UMLS:C0265290	An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae.	http://purl.obolibrary.org/obo/HP_0005871		
OBO:HP_0005872	Brachytelomesophalangy	biolink:OntologyClass	hp	UMLS:C1847408	Disproportionately short middle and distal phalanges compared to the hand/foot.	http://purl.obolibrary.org/obo/HP_0005872		Progressive brachydactyly of middle and distal phalanges|Short middle and distal phalanges of digits ii through v
OBO:HP_0005873	Polysyndactyly of hallux	biolink:OntologyClass	hp	UMLS:C4021618	Combined syndactyly and polydactyly of the great toe.	http://purl.obolibrary.org/obo/HP_0005873		Polysyndactyly of big toe|Polysyndactyly of great toe
OBO:HP_0005875	Increased dermatoglyphic whorls	biolink:OntologyClass	hp	UMLS:C4025120		http://purl.obolibrary.org/obo/HP_0005875		
OBO:HP_0005876	Progressive flexion contractures	biolink:OntologyClass	hp	UMLS:C3279322	Progressively worsening joint contractures.	http://purl.obolibrary.org/obo/HP_0005876		Joint contractures, progressive
OBO:HP_0005877	Multiple small vertebral fractures	biolink:OntologyClass	hp	UMLS:C4025119		http://purl.obolibrary.org/obo/HP_0005877		
OBO:HP_0005878	Enlarged sagittal diameter of the cervical canal	biolink:OntologyClass	hp	UMLS:C4025118		http://purl.obolibrary.org/obo/HP_0005878		
OBO:HP_0005879	Congenital finger flexion contractures	biolink:OntologyClass	hp	UMLS:C1393871	Multiple bent (flexed) finger joints that cannot be straightened actively or passively.	http://purl.obolibrary.org/obo/HP_0005879		Congenital finger contractures
OBO:HP_0005880	Metacarpophalangeal synostosis	biolink:OntologyClass	hp	UMLS:C4025117	Fusion of a metacarpal bone with the proximal phalanx of the finger distal to it across the corresponding metacarpophalangeal joint.	http://purl.obolibrary.org/obo/HP_0005880		Fused long bone of hand with innermost finger bone
OBO:HP_0005881	Spinal instability	biolink:OntologyClass	hp	SNOMEDCT_US:240220009|UMLS:C0410648		http://purl.obolibrary.org/obo/HP_0005881		
OBO:HP_0005882	Dermatoglyphic variants	biolink:OntologyClass	hp	UMLS:C4025116		http://purl.obolibrary.org/obo/HP_0005882		
OBO:HP_0005885	Absent ossification of cervical vertebral bodies	biolink:OntologyClass	hp	UMLS:C4025115	A lack of bone mineralization of one or more body of cervical vertebra.	http://purl.obolibrary.org/obo/HP_0005885		
OBO:HP_0005886	Aphalangy of the hands	biolink:OntologyClass	hp	UMLS:C4025114	Absence of a digit or of one or more phalanges of a finger.	http://purl.obolibrary.org/obo/HP_0005886		
OBO:HP_0005890	Hyperostosis cranialis interna	biolink:OntologyClass	hp	MSH:C564168|UMLS:C1840404|UMLS:C4280468|UMLS:C4280469|UMLS:C4280470|UMLS:C4280471|UMLS:C4280472	Bony overgrowth of the internal (endosteal) surface of the calvaria and the base of skull.	http://purl.obolibrary.org/obo/HP_0005890		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
OBO:HP_0005891	Progressive forearm bowing	biolink:OntologyClass	hp	UMLS:C3152020	Progressive bending or abnormal curvature of the forearm skeleton.	http://purl.obolibrary.org/obo/HP_0005891		Progressive forearm curvature
OBO:HP_0005892	Proximal tibial and fibular fusion	biolink:OntologyClass	hp	UMLS:C4025113		http://purl.obolibrary.org/obo/HP_0005892		Fusion of innermost shinbone and calf bone
OBO:HP_0005894	Double first metacarpals	biolink:OntologyClass	hp	UMLS:C4025112	Duplication of the metacarpal I bones.	http://purl.obolibrary.org/obo/HP_0005894		Double 1st long bones of hand
OBO:HP_0005895	Radial deviation of thumb terminal phalanx	biolink:OntologyClass	hp	UMLS:C4025111		http://purl.obolibrary.org/obo/HP_0005895		
OBO:HP_0005897	Severe generalized osteoporosis	biolink:OntologyClass	hp	UMLS:C1859443	Severe degree of osteoporosis.	http://purl.obolibrary.org/obo/HP_0005897		Severe generalised osteoporosis|Severe, generalized osteoporosis
OBO:HP_0005899	Metaphyseal dysostosis	biolink:OntologyClass	hp	SNOMEDCT_US:28681006|UMLS:C0265290	Abnormal mineralization of the metaphyseal area of bones.	http://purl.obolibrary.org/obo/HP_0005899		
OBO:HP_0005900	Fifth metacarpal with ulnar notch	biolink:OntologyClass	hp	UMLS:C3276324	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).	http://purl.obolibrary.org/obo/HP_0005900		Fifth metacarpal notched on ulnar side
OBO:HP_0005901	obsolete Chronic recurrent multifocal osteomyelitis	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0005901		
OBO:HP_0005905	Abnormal cervical curvature	biolink:OntologyClass	hp	UMLS:C3151523	The presence of an abnormal curvature of the cervical vertebral column.	http://purl.obolibrary.org/obo/HP_0005905		Abnormal neck curve
OBO:HP_0005906	Delayed pneumatization of the mastoid process	biolink:OntologyClass	hp	UMLS:C4021617	An abnormally reduced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms.	http://purl.obolibrary.org/obo/HP_0005906	hposlim_core	Mastoid processes poorly pneumatized
OBO:HP_0005910	Rhomboid or triangular shaped 5th finger middle phalanx	biolink:OntologyClass	hp	UMLS:C4021616	Rhomboid or triangular shaped 5th (little) finger middle phalanx.	http://purl.obolibrary.org/obo/HP_0005910		Rhomboid or triangular shaped fifth finger middle phalanx
OBO:HP_0005912	Biliary atresia	biolink:OntologyClass	hp	MSH:D001656|SNOMEDCT_US:77480004|SNOMEDCT_US:82821008|UMLS:C0005411	Atresia of the biliary tree.	http://purl.obolibrary.org/obo/HP_0005912		Biliary duct atresia
OBO:HP_0005913	Abnormality of metacarpal epiphyses	biolink:OntologyClass	hp	UMLS:C4025110		http://purl.obolibrary.org/obo/HP_0005913		Abnormality of end part of long bone of hand
OBO:HP_0005914	Aplasia/Hypoplasia involving the metacarpal bones	biolink:OntologyClass	hp	UMLS:C1836192	Aplasia or Hypoplasia affecting the metacarpal bones.	http://purl.obolibrary.org/obo/HP_0005914		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
OBO:HP_0005916	Abnormal metacarpal morphology	biolink:OntologyClass	hp	UMLS:C4021615	Irregularly shaped metacarpal bones of varying degree.	http://purl.obolibrary.org/obo/HP_0005916		Abnormal shape of long bones of hand|Abnormal shape of metacarpal bones
OBO:HP_0005917	Supernumerary metacarpal bones	biolink:OntologyClass	hp	SNOMEDCT_US:91846008|UMLS:C0545617	The presence of more than the normal number of metacarpal bones.	http://purl.obolibrary.org/obo/HP_0005917		Extra long bones of hand
OBO:HP_0005918	Abnormal finger phalanx morphology	biolink:OntologyClass	hp	UMLS:C4021614	Abnormalities affecting the phalanx of finger.	http://purl.obolibrary.org/obo/HP_0005918		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
OBO:HP_0005920	Abnormal epiphysis morphology of the phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4021613	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).	http://purl.obolibrary.org/obo/HP_0005920		
OBO:HP_0005921	obsolete Abnormal ossification of hand bones	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0005921		
OBO:HP_0005922	Abnormal hand morphology	biolink:OntologyClass	hp	UMLS:C4025109	Any structural anomaly of the hand.	http://purl.obolibrary.org/obo/HP_0005922		Abnormal shape of hand
OBO:HP_0005923	Abnormalities of the metaphyses of the hand	biolink:OntologyClass	hp	UMLS:C4025108		http://purl.obolibrary.org/obo/HP_0005923		Abnormality of the wide portion of the hand bone
OBO:HP_0005924	Abnormality of the epiphyses of the hand	biolink:OntologyClass	hp	UMLS:C4025107	Any abnormality of the epiphyses of the phalanges or metacarpal bones.	http://purl.obolibrary.org/obo/HP_0005924		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
OBO:HP_0005925	Abnormalities of the diaphyses of the hand	biolink:OntologyClass	hp	UMLS:C4025106		http://purl.obolibrary.org/obo/HP_0005925		Abnormalities of shaft of long bone of the hand
OBO:HP_0005926	Abnormality of hand cortical bone	biolink:OntologyClass	hp	UMLS:C4025105	An anomaly of the outer shell (cortex) of a hand bone.	http://purl.obolibrary.org/obo/HP_0005926		Abnormality of the cortex of hand bones
OBO:HP_0005927	Aplasia/hypoplasia involving bones of the hand	biolink:OntologyClass	hp	UMLS:C4021612	Absence (due to failure to form) or underdevelopment of the bones of the hand.	http://purl.obolibrary.org/obo/HP_0005927		Absent/small hand bones|Absent/underdeveloped hand bones|Hypoplasia/absence of hand bones
OBO:HP_0005928	Synostosis involving the fibula	biolink:OntologyClass	hp	UMLS:C4025104		http://purl.obolibrary.org/obo/HP_0005928		Bone fusion involving the calf bones
OBO:HP_0005929	Synostosis involving the tibia	biolink:OntologyClass	hp	UMLS:C4025103		http://purl.obolibrary.org/obo/HP_0005929		Bone fusion involving the shinbone
OBO:HP_0005930	Abnormality of epiphysis morphology	biolink:OntologyClass	hp	UMLS:C4021611	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.	http://purl.obolibrary.org/obo/HP_0005930		Abnormal shape of end part of bone|Abnormality of the epiphyses|Anomaly of the epiphyses|Epiphyseal abnormality
OBO:HP_0005932	Abnormal renal corticomedullary differentiation	biolink:OntologyClass	hp	UMLS:C4025102	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.	http://purl.obolibrary.org/obo/HP_0005932		
OBO:HP_0005934	Imperfect vocal cord adduction	biolink:OntologyClass	hp	UMLS:C4025101		http://purl.obolibrary.org/obo/HP_0005934		
OBO:HP_0005938	Abnormal respiratory motile cilium morphology	biolink:OntologyClass	hp	UMLS:C4025100	Abnormal arrangement of the structures of the motile cilium.	http://purl.obolibrary.org/obo/HP_0005938		
OBO:HP_0005939	Multiple bilateral pneumothoraces	biolink:OntologyClass	hp	UMLS:C4025099		http://purl.obolibrary.org/obo/HP_0005939		
OBO:HP_0005941	Intermittent hyperpnea at rest	biolink:OntologyClass	hp	UMLS:C4025098		http://purl.obolibrary.org/obo/HP_0005941		
OBO:HP_0005942	Desquamative interstitial pneumonitis	biolink:OntologyClass	hp	MSH:C562470|SNOMEDCT_US:8549006|UMLS:C0238378	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.	http://purl.obolibrary.org/obo/HP_0005942		Filling of the alveoli with alveolar macrophages|Filling of the alveoli with desquamated epithelial cells|Intra-alveolar accumulation of macrophages
OBO:HP_0005943	Respiratory arrest	biolink:OntologyClass	hp	SNOMEDCT_US:87317003|UMLS:C0162297		http://purl.obolibrary.org/obo/HP_0005943		Breathing cessation
OBO:HP_0005944	Bilateral lung agenesis	biolink:OntologyClass	hp	Fyler:4206|UMLS:C4021610	Bilateral lack of development of the lungs.	http://purl.obolibrary.org/obo/HP_0005944		Absent lungs|Bilateral pulmonary agenesis
OBO:HP_0005945	Laryngeal obstruction	biolink:OntologyClass	hp	SNOMEDCT_US:61169001|UMLS:C0264306	Blockage of the upper airway at the level of the larynx often accompanied by respiratory distress.	http://purl.obolibrary.org/obo/HP_0005945		
OBO:HP_0005946	Ventilator dependence with inability to wean	biolink:OntologyClass	hp	UMLS:C4025097		http://purl.obolibrary.org/obo/HP_0005946		
OBO:HP_0005947	Decreased sensitivity to hypoxemia	biolink:OntologyClass	hp	UMLS:C3806286	Reduced tendency to respond to a reduced concentration of oxygen in the blood by increasing respiration.	http://purl.obolibrary.org/obo/HP_0005947		Decreased sensitivity to hypoxemia|Decreased sensitivity to hypoxaemia
OBO:HP_0005948	Multiple pulmonary cysts	biolink:OntologyClass	hp	MSH:C563237|UMLS:C1384901	The presence of multiple lung cysts.	http://purl.obolibrary.org/obo/HP_0005948		Cystic lung disease|Multiple lung cysts
OBO:HP_0005949	Apneic episodes in infancy	biolink:OntologyClass	hp	UMLS:C3807980	Recurrent episodes of apnea occurring during infancy.	http://purl.obolibrary.org/obo/HP_0005949		
OBO:HP_0005950	Laryngeal web	biolink:OntologyClass	hp	SNOMEDCT_US:297159008|UMLS:C0281890	A membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords.	http://purl.obolibrary.org/obo/HP_0005950		Laryngeal webs|Partial laryngeal atresia
OBO:HP_0005951	Progressive inspiratory stridor	biolink:OntologyClass	hp	UMLS:C4025096		http://purl.obolibrary.org/obo/HP_0005951		
OBO:HP_0005952	Decreased pulmonary function	biolink:OntologyClass	hp	MSH:D012131|SNOMEDCT_US:80954004|UMLS:C0235063		http://purl.obolibrary.org/obo/HP_0005952		Decreased lung function|Impaired lung function|Impaired pulmonary function
OBO:HP_0005954	Pulmonary capillary hemangiomatosis	biolink:OntologyClass	hp	SNOMEDCT_US:233949008|UMLS:C0340548		http://purl.obolibrary.org/obo/HP_0005954		Pulmonary hemangiomas
OBO:HP_0005956	Anteroposteriorly shortened larynx	biolink:OntologyClass	hp	UMLS:C3805994	Abnormal shortening of the larynx in the anteroposterior (front to back) axis.	http://purl.obolibrary.org/obo/HP_0005956		
OBO:HP_0005957	Breathing dysregulation	biolink:OntologyClass	hp	UMLS:C3808046		http://purl.obolibrary.org/obo/HP_0005957		
OBO:HP_0005959	Impaired gluconeogenesis	biolink:OntologyClass	hp	UMLS:C3279336	An impairment of gluconeogenesis.	http://purl.obolibrary.org/obo/HP_0005959		Gluconeogenesis impaired
OBO:HP_0005961	Hypoargininemia	biolink:OntologyClass	hp	UMLS:C1859735|UMLS:C4025095	A decreased concentration of arginine in the blood.	http://purl.obolibrary.org/obo/HP_0005961		Low blood arginine levels|Arginine deficiency
OBO:HP_0005964	Intermittent hypothermia	biolink:OntologyClass	hp	UMLS:C1837639	Episodes of reduced body termperature.	http://purl.obolibrary.org/obo/HP_0005964		Intermittent abnormally low body temperature|Intermittent hypothermia
OBO:HP_0005967	Mixed respiratory and metabolic acidosis	biolink:OntologyClass	hp	UMLS:C1840372		http://purl.obolibrary.org/obo/HP_0005967		
OBO:HP_0005968	Temperature instability	biolink:OntologyClass	hp	UMLS:C1820737|UMLS:C3279038	Disordered thermoregulation characterized by an impaired ability to maintain a balance between heat production and heat loss, with resulting instability of body temperature.	http://purl.obolibrary.org/obo/HP_0005968		Temperature instability|Body temperature instability
OBO:HP_0005972	Respiratory acidosis	biolink:OntologyClass	hp	MSH:D000142|SNOMEDCT_US:12326000|UMLS:C0001127	Acidosis because of respiratory retention of carbon dioxide.	http://purl.obolibrary.org/obo/HP_0005972		
OBO:HP_0005973	Fructose intolerance	biolink:OntologyClass	hp	MSH:D005633|SNOMEDCT_US:20052008|UMLS:C0016751	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.	http://purl.obolibrary.org/obo/HP_0005973		Fructose malabsorption
OBO:HP_0005974	Episodic ketoacidosis	biolink:OntologyClass	hp	UMLS:C1859860	Intermittent episodes of ketoacidosis.	http://purl.obolibrary.org/obo/HP_0005974		Ketoacidosis, episodic
OBO:HP_0005976	Hyperkalemic metabolic acidosis	biolink:OntologyClass	hp	UMLS:C1865880		http://purl.obolibrary.org/obo/HP_0005976		
OBO:HP_0005977	Hypochloremic metabolic alkalosis	biolink:OntologyClass	hp	UMLS:C0740895		http://purl.obolibrary.org/obo/HP_0005977		
OBO:HP_0005978	Type II diabetes mellitus	biolink:OntologyClass	hp	MSH:D003924|SNOMEDCT_US:44054006|UMLS:C0011860	A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia.	http://purl.obolibrary.org/obo/HP_0005978		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
OBO:HP_0005979	Metabolic ketoacidosis	biolink:OntologyClass	hp	MSH:D007662|UMLS:C1854704	A metabolic acidosis due to accumulation of ketone bodies generally observed in the setting of poor nutritional intake.	http://purl.obolibrary.org/obo/HP_0005979		Starvation ketoacidosis
OBO:HP_0005982	Reduced phenylalanine hydroxylase level	biolink:OntologyClass	hp	MSH:D010661|SNOMEDCT_US:7573000|UMLS:C0751434|UMLS:C4025094	A reduction in phenylalanine 4-monooxygenase level.	http://purl.obolibrary.org/obo/HP_0005982		Phenylalanine hydroxylase deficiency
OBO:HP_0005984	Elevated maternal serum alpha-fetoprotein	biolink:OntologyClass	hp	UMLS:C0740927	An elevation of alpha-feto protein in the maternal serum.	http://purl.obolibrary.org/obo/HP_0005984		
OBO:HP_0005986	Limitation of neck motion	biolink:OntologyClass	hp	MSH:D009127|SNOMEDCT_US:161882006|SNOMEDCT_US:405947006|UMLS:C0151315|UMLS:C1320474|UMLS:C1847392		http://purl.obolibrary.org/obo/HP_0005986		Limited neck mobility|Limitation of neck motion|Restricted neck movement
OBO:HP_0005987	Multinodular goiter	biolink:OntologyClass	hp	SNOMEDCT_US:237570007|UMLS:C0342208	Enlargement of the thyroid gland related to multiple nodules in the thyroid gland.	http://purl.obolibrary.org/obo/HP_0005987		Multinodular goitre
OBO:HP_0005988	Congenital muscular torticollis	biolink:OntologyClass	hp	MSH:C535425|SNOMEDCT_US:268240006|UMLS:C0079352	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.	http://purl.obolibrary.org/obo/HP_0005988		Torticollis, congenital
OBO:HP_0005989	Redundant neck skin	biolink:OntologyClass	hp	UMLS:C1840319	Excess skin around the neck, often lying in horizontal folds.	http://purl.obolibrary.org/obo/HP_0005989		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
OBO:HP_0005990	Thyroid hypoplasia	biolink:OntologyClass	hp	MSH:D050033|SNOMEDCT_US:367524008|UMLS:C0151516	Developmental hypoplasia of the thyroid gland.	http://purl.obolibrary.org/obo/HP_0005990		Small thyroid gland|Hypoplastic thyroid
OBO:HP_0005991	Limited neck flexion	biolink:OntologyClass	hp	UMLS:C1864449	Reduced abilty to lower the chin towards the chest by bending the neck.	http://purl.obolibrary.org/obo/HP_0005991		Limited neck flexibility|Limited cervical flexion
OBO:HP_0005994	Nodular goiter	biolink:OntologyClass	hp	MSH:D006044|SNOMEDCT_US:419153005|UMLS:C0018023	Enlargement of the thyroid gland related to one or more nodules in the thyroid gland.	http://purl.obolibrary.org/obo/HP_0005994		Nodular goitre
OBO:HP_0005995	Decreased adipose tissue around neck	biolink:OntologyClass	hp	UMLS:C1837763	Reduced amount of adipose tissue in the region of the neck.	http://purl.obolibrary.org/obo/HP_0005995		Loss of fat around neck|Loss of adipose tissue around the neck
OBO:HP_0005997	Restricted neck movement due to contractures	biolink:OntologyClass	hp	UMLS:C1867006		http://purl.obolibrary.org/obo/HP_0005997		Restricted neck mobility due to contractures|Restricted neck movement due to contractures|Neck flexion contracture
OBO:HP_0005999	Ureteral atresia	biolink:OntologyClass	hp	SNOMEDCT_US:204974003|SNOMEDCT_US:49534003|UMLS:C0266320	A developmental defect defined by the failure of the formation of the lumen (tube) of the ureter.	http://purl.obolibrary.org/obo/HP_0005999		
OBO:HP_0006000	Ureteral obstruction	biolink:OntologyClass	hp	Fyler:4492|MSH:D014517|SNOMEDCT_US:20018005|UMLS:C0041956	Obstruction of the flow of urine through the ureter.	http://purl.obolibrary.org/obo/HP_0006000		
OBO:HP_0006006	Hypotrophy of the small hand muscles	biolink:OntologyClass	hp	UMLS:C1843228		http://purl.obolibrary.org/obo/HP_0006006		Degeneration of small hand muscles
OBO:HP_0006008	Unilateral brachydactyly	biolink:OntologyClass	hp	UMLS:C1868164|UMLS:C4280467		http://purl.obolibrary.org/obo/HP_0006008		Short digits on one side
OBO:HP_0006009	Broad phalanx	biolink:OntologyClass	hp	UMLS:C1855185	Increased side-to-side width of one or more phalanges of the fingers or toes.	http://purl.obolibrary.org/obo/HP_0006009		Wide digital bones|Broad phalanges|Wide phalanges|Widened phalanges
OBO:HP_0006011	Cuboidal metacarpal	biolink:OntologyClass	hp	UMLS:C4025093	Severely shortened metacarpal with a cuboidal appearance.	http://purl.obolibrary.org/obo/HP_0006011		Short, cube shaped long bone of hand
OBO:HP_0006012	Widened metacarpal shaft	biolink:OntologyClass	hp	UMLS:C1850159		http://purl.obolibrary.org/obo/HP_0006012		Broad shaft of long bone of hand
OBO:HP_0006014	Abnormally shaped carpal bones	biolink:OntologyClass	hp	UMLS:C1860111		http://purl.obolibrary.org/obo/HP_0006014		Abnormally shaped wrist bones
OBO:HP_0006016	Delayed phalangeal epiphyseal ossification	biolink:OntologyClass	hp	UMLS:C4021609	Delay in the process of formation and maturation of the epiphysis of one or more phalanx.	http://purl.obolibrary.org/obo/HP_0006016		Delayed bone maturation of end part of digital bone|Delayed phalangeal epiphyseal bone maturation
OBO:HP_0006019	Reduced proximal interphalangeal joint space	biolink:OntologyClass	hp	UMLS:C1861396		http://purl.obolibrary.org/obo/HP_0006019		Decreased space in hinge joint
OBO:HP_0006026	Rounded epiphyses	biolink:OntologyClass	hp	UMLS:C1850632		http://purl.obolibrary.org/obo/HP_0006026		Rounded end part of bone
OBO:HP_0006028	Metaphyseal cupping of metacarpals	biolink:OntologyClass	hp	UMLS:C1855171	Metaphyseal cupping affecting the metacarpal bones.	http://purl.obolibrary.org/obo/HP_0006028		Cupping of wide portion of long bone of hand|Metacarpal/metaphyseal cupping
OBO:HP_0006035	Cone-shaped epiphyses of phalanges 2 to 5	biolink:OntologyClass	hp	UMLS:C1857005		http://purl.obolibrary.org/obo/HP_0006035		Cone-shaped end part of digital bones 2 to 5
OBO:HP_0006040	Long second metacarpal	biolink:OntologyClass	hp	UMLS:C1861531		http://purl.obolibrary.org/obo/HP_0006040		Long 2nd long bone of hand
OBO:HP_0006042	Y-shaped metacarpals	biolink:OntologyClass	hp	UMLS:C1861373	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.	http://purl.obolibrary.org/obo/HP_0006042		Y-shaped long bone of hand
OBO:HP_0006045	Short pointed phalanges	biolink:OntologyClass	hp	UMLS:C1849740		http://purl.obolibrary.org/obo/HP_0006045		Short pointed digital bones
OBO:HP_0006048	Distal widening of metacarpals	biolink:OntologyClass	hp	UMLS:C1865254	Abnormal increase in width of the distal region of the metacarpal bones.	http://purl.obolibrary.org/obo/HP_0006048		Wide outermost end of long bone
OBO:HP_0006051	Metacarpal periosteal thickening	biolink:OntologyClass	hp	UMLS:C1834347		http://purl.obolibrary.org/obo/HP_0006051		
OBO:HP_0006055	Ulnar deviated club hands	biolink:OntologyClass	hp	UMLS:C1833881		http://purl.obolibrary.org/obo/HP_0006055		
OBO:HP_0006059	Cone-shaped metacarpal epiphyses	biolink:OntologyClass	hp	UMLS:C1855239	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.	http://purl.obolibrary.org/obo/HP_0006059		Cone-shaped end part of long bone|Metacarpal cone-shaped epiphyses
OBO:HP_0006060	Tombstone-shaped proximal phalanges	biolink:OntologyClass	hp	UMLS:C1862420		http://purl.obolibrary.org/obo/HP_0006060		Tombstone-shaped innermost digital bones
OBO:HP_0006064	Limited interphalangeal movement	biolink:OntologyClass	hp	UMLS:C1840089		http://purl.obolibrary.org/obo/HP_0006064		Limited movement of hinge joints
OBO:HP_0006067	Multiple carpal ossification centers	biolink:OntologyClass	hp	UMLS:C1835573	A delay in the process of formation and maturation of the epiphysis of one or more long bones.	http://purl.obolibrary.org/obo/HP_0006067		Multiple carpal ossification centres
OBO:HP_0006069	Severe carpal ossification delay	biolink:OntologyClass	hp	UMLS:C1866703|UMLS:C4280466		http://purl.obolibrary.org/obo/HP_0006069		Severe delay in maturation of wrist bone
OBO:HP_0006070	Metacarpophalangeal joint contracture	biolink:OntologyClass	hp	UMLS:C2677209	A chronic loss of joint motion in metacarpophalangeal joints due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.	http://purl.obolibrary.org/obo/HP_0006070		Metacarpal/phalangeal joint contractures
OBO:HP_0006077	Absent proximal finger flexion creases	biolink:OntologyClass	hp	UMLS:C1850048	Absence of the proximal interphalangeal flexion creases of the fingers.	http://purl.obolibrary.org/obo/HP_0006077		
OBO:HP_0006086	Thin metacarpal cortices	biolink:OntologyClass	hp	UMLS:C1850160		http://purl.obolibrary.org/obo/HP_0006086		
OBO:HP_0006088	1-5 finger complete cutaneous syndactyly	biolink:OntologyClass	hp	UMLS:C1861357		http://purl.obolibrary.org/obo/HP_0006088		
OBO:HP_0006089	Palmar hyperhidrosis	biolink:OntologyClass	hp	UMLS:C1856953		http://purl.obolibrary.org/obo/HP_0006089		Excessive sweating of hands
OBO:HP_0006092	Malaligned carpal bone	biolink:OntologyClass	hp	UMLS:C1856742	Malalignement of carpal bone angles either with respect to each other, to the corresponding metacarpals or with respect to the wrist (radius and ulna).	http://purl.obolibrary.org/obo/HP_0006092		Incorrect alignment of wrist bone
OBO:HP_0006094	Finger joint hypermobility	biolink:OntologyClass	hp	SNOMEDCT_US:298193009|UMLS:C0574974		http://purl.obolibrary.org/obo/HP_0006094		Increased mobility in finger joint
OBO:HP_0006095	Wide tufts of distal phalanges	biolink:OntologyClass	hp	UMLS:C1835101		http://purl.obolibrary.org/obo/HP_0006095		Wide tips of outermost digital bone
OBO:HP_0006097	3-4 finger syndactyly	biolink:OntologyClass	hp	UMLS:C1856889	Syndactyly with fusion of fingers three and four.	http://purl.obolibrary.org/obo/HP_0006097		Webbed 3rd-4th fingers|Partial or complete syndactyly 3rd-4th fingers|Webbed 3rd-4th finger
OBO:HP_0006099	Metacarpophalangeal joint hyperextensibility	biolink:OntologyClass	hp	UMLS:C4025092	Increased mobility of one ore more metacarpophalangeal joint.	http://purl.obolibrary.org/obo/HP_0006099		
OBO:HP_0006101	Finger syndactyly	biolink:OntologyClass	hp	SNOMEDCT_US:249769001|SNOMEDCT_US:268251006|SNOMEDCT_US:34048007|UMLS:C0221352	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".	http://purl.obolibrary.org/obo/HP_0006101		Partial syndactyly
OBO:HP_0006106	Absent trapezoid bone	biolink:OntologyClass	hp	UMLS:C1847191		http://purl.obolibrary.org/obo/HP_0006106		
OBO:HP_0006107	Fingerpad telangiectases	biolink:OntologyClass	hp	UMLS:C1861248	Telangiectasia (small dilated blood vessels) located in the fingerpads at the tips of the fingers.	http://purl.obolibrary.org/obo/HP_0006107		Small dilated blood vessels in fingerpads|Finger pad telangiectases
OBO:HP_0006108	Tapered metacarpals	biolink:OntologyClass	hp	UMLS:C4025091	Metacarpal that becomes thinner toward the distal end.	http://purl.obolibrary.org/obo/HP_0006108		Tapered long bones of hand
OBO:HP_0006109	Absent phalangeal crease	biolink:OntologyClass	hp	UMLS:C1862479|UMLS:C4020821	Absence of one or more interphalangeal creases (i.e., of the transverse lines in the skin between the phalanges of the fingers).	http://purl.obolibrary.org/obo/HP_0006109		Absent interphalangeal creases|Aplasia of the interphalangeal creases
OBO:HP_0006110	Shortening of all middle phalanges of the fingers	biolink:OntologyClass	hp	UMLS:C1856912	Short, hypoplastic middle phalanx of finger, affecting all fingers.	http://purl.obolibrary.org/obo/HP_0006110		
OBO:HP_0006112	Expanded phalanges with widened medullary cavities	biolink:OntologyClass	hp	UMLS:C1969287		http://purl.obolibrary.org/obo/HP_0006112		
OBO:HP_0006114	Multiple palmar creases	biolink:OntologyClass	hp	UMLS:C1861872	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).	http://purl.obolibrary.org/obo/HP_0006114		Multiple palm lines
OBO:HP_0006118	Shortening of all distal phalanges of the fingers	biolink:OntologyClass	hp	UMLS:C4021608	Hypoplasia of all of the distal phalanx of finger.	http://purl.obolibrary.org/obo/HP_0006118		Shortening of all outermost bones of the fingers|Brachytelephalangy
OBO:HP_0006119	Proximal tapering of metacarpals	biolink:OntologyClass	hp	UMLS:C1854749	Some or all of the metacarpal bones (i.e., metacarpal II to V) have a pointed proximal appearance.	http://purl.obolibrary.org/obo/HP_0006119	hposlim_core	Pointed innermost long bone of hand|Pointed proximal metacarpals
OBO:HP_0006121	Acral ulceration	biolink:OntologyClass	hp	UMLS:C1860099	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.	http://purl.obolibrary.org/obo/HP_0006121		
OBO:HP_0006127	Long proximal phalanx of finger	biolink:OntologyClass	hp	UMLS:C4025090	Increased length of the proximal phalanx of finger.	http://purl.obolibrary.org/obo/HP_0006127		Long innermost finger bone
OBO:HP_0006129	Drumstick terminal phalanges	biolink:OntologyClass	hp	UMLS:C1844822	Rounding and broadening of the tufts of the distal phalanges.	http://purl.obolibrary.org/obo/HP_0006129		Drumstick shaped digital bones
OBO:HP_0006134	Enlarged metacarpal epiphyses	biolink:OntologyClass	hp	UMLS:C1865035	Abnormally large size of the metaphyseal epiphyses.	http://purl.obolibrary.org/obo/HP_0006134		Enlarged end part of long bone of hand
OBO:HP_0006135	Decreased finger mobility	biolink:OntologyClass	hp	UMLS:C1862133		http://purl.obolibrary.org/obo/HP_0006135		Decreased finger mobility|Decreased finger movement
OBO:HP_0006136	Bilateral postaxial polydactyly	biolink:OntologyClass	hp	UMLS:C1855003		http://purl.obolibrary.org/obo/HP_0006136		
OBO:HP_0006140	Premature fusion of phalangeal epiphyses	biolink:OntologyClass	hp	UMLS:C1855620	Fusion of the epiphysis and metaphysis of one or more phalanges prior to the normal age or stage of growth.	http://purl.obolibrary.org/obo/HP_0006140		Premature fusion of end part of digital bone
OBO:HP_0006143	Abnormal finger flexion creases	biolink:OntologyClass	hp	UMLS:C1859481		http://purl.obolibrary.org/obo/HP_0006143		
OBO:HP_0006144	Shortening of all proximal phalanges of the fingers	biolink:OntologyClass	hp	UMLS:C4025089	Congenital hypoplasia of proximal phalanx of finger or all fingers.	http://purl.obolibrary.org/obo/HP_0006144		Shortening of all innermost bones of the fingers
OBO:HP_0006145	Central Y-shaped metacarpal	biolink:OntologyClass	hp	UMLS:C1848597	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.	http://purl.obolibrary.org/obo/HP_0006145		Y-shaped central long bones of hand
OBO:HP_0006146	Broad metacarpal epiphyses	biolink:OntologyClass	hp	UMLS:C4025088	Increased side-to-side width of the metacarpal epiphyses.	http://purl.obolibrary.org/obo/HP_0006146		Broad end part of long bone of hand
OBO:HP_0006147	Progressive fusion 2nd-5th pip joints	biolink:OntologyClass	hp	UMLS:C1861310		http://purl.obolibrary.org/obo/HP_0006147		
OBO:HP_0006149	Increased laxity of fingers	biolink:OntologyClass	hp	UMLS:C1850855		http://purl.obolibrary.org/obo/HP_0006149		
OBO:HP_0006150	Swan neck-like deformities of the fingers	biolink:OntologyClass	hp	UMLS:C1849152	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.	http://purl.obolibrary.org/obo/HP_0006150		
OBO:HP_0006152	Proximal symphalangism of hands	biolink:OntologyClass	hp	UMLS:C4021607	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.	http://purl.obolibrary.org/obo/HP_0006152		Fused innermost hinge joints|Proximal interphalangeal joint synostoses
OBO:HP_0006153	Disharmonious carpal bone	biolink:OntologyClass	hp	UMLS:C2675549		http://purl.obolibrary.org/obo/HP_0006153		Disharmonious wrist bone
OBO:HP_0006155	Long phalanx of finger	biolink:OntologyClass	hp	UMLS:C4025087	Increased length of multiple or a single phalanx of finger.	http://purl.obolibrary.org/obo/HP_0006155		Long finger bone
OBO:HP_0006156	Ulnar deviation of thumb	biolink:OntologyClass	hp	SNOMEDCT_US:299137000|UMLS:C0575904|UMLS:C4280465	Bending or curvature of a thumb towards the ulnar side (towards the ring finger).	http://purl.obolibrary.org/obo/HP_0006156		Curved thumb deviated towards palm|Ulnar deviation of the 1st finger
OBO:HP_0006157	Prominent palmar flexion creases	biolink:OntologyClass	hp	UMLS:C1865131|UMLS:C4280464		http://purl.obolibrary.org/obo/HP_0006157		Prominent life line
OBO:HP_0006158	obsolete Finger joint hyperextensibility	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0006158		
OBO:HP_0006159	Mesoaxial hand polydactyly	biolink:OntologyClass	hp	UMLS:C4021606	The presence of a supernumerary finger (not a thumb) involving the third or fourth metacarpal with associated osseous syndactyly.	http://purl.obolibrary.org/obo/HP_0006159	hposlim_core	Interdigital finger polydactyly|Central hand polydactyly
OBO:HP_0006160	Irregular metacarpals	biolink:OntologyClass	hp	UMLS:C4025086	Irregular morphology of one or more metacarpal bones.	http://purl.obolibrary.org/obo/HP_0006160		Irregular long bones of hand
OBO:HP_0006161	Short metacarpals with rounded proximal ends	biolink:OntologyClass	hp	UMLS:C1856471		http://purl.obolibrary.org/obo/HP_0006161		Short long bone of hand with rounded innermost ends
OBO:HP_0006162	Soft tissue swelling of interphalangeal joints	biolink:OntologyClass	hp	UMLS:C1854913		http://purl.obolibrary.org/obo/HP_0006162		Soft tissue swelling of hinge joints
OBO:HP_0006163	Enlarged metacarpophalangeal joints	biolink:OntologyClass	hp	UMLS:C1859700		http://purl.obolibrary.org/obo/HP_0006163		
OBO:HP_0006165	Proportionate shortening of all digits	biolink:OntologyClass	hp	UMLS:C1862157		http://purl.obolibrary.org/obo/HP_0006165		Proportionate shortening of all digits
OBO:HP_0006166	Tubular metacarpal bones	biolink:OntologyClass	hp	UMLS:C1859369		http://purl.obolibrary.org/obo/HP_0006166		Cylindrical shaped long bones of hand
OBO:HP_0006167	Prominent proximal interphalangeal joints	biolink:OntologyClass	hp	UMLS:C4025085		http://purl.obolibrary.org/obo/HP_0006167		Prominent innermost hinge joints
OBO:HP_0006169	Decreased mobility 3rd-5th fingers	biolink:OntologyClass	hp	UMLS:C1833882		http://purl.obolibrary.org/obo/HP_0006169		Decreased mobility 3rd-5th fingers
OBO:HP_0006170	Chess-pawn distal phalanges	biolink:OntologyClass	hp	UMLS:C1862097	A morphological abnormality of distal phalanges such that they have the appearance of chess pawns.	http://purl.obolibrary.org/obo/HP_0006170		Chess-pawn shaped outermost bone
OBO:HP_0006172	Flattened, squared-off epiphyses of tubular bones	biolink:OntologyClass	hp	UMLS:C1834961		http://purl.obolibrary.org/obo/HP_0006172		Flattened, squared-off end part of tubular bones
OBO:HP_0006174	Metacarpal diaphyseal endosteal sclerosis	biolink:OntologyClass	hp	UMLS:C1840419	Increase in bone density in the diaphyseal (shaft) region of a metacarpal bone.	http://purl.obolibrary.org/obo/HP_0006174		
OBO:HP_0006175	Proximal phalangeal periosteal thickening	biolink:OntologyClass	hp	UMLS:C1834348|UMLS:C4280463		http://purl.obolibrary.org/obo/HP_0006175		Thickening of connective tissue of innermost finger bone
OBO:HP_0006176	Two carpal ossification centers present at birth	biolink:OntologyClass	hp	UMLS:C1839285		http://purl.obolibrary.org/obo/HP_0006176		Two carpal ossification centres present at birth
OBO:HP_0006179	Pseudoepiphyses of second metacarpal	biolink:OntologyClass	hp	UMLS:C1862693		http://purl.obolibrary.org/obo/HP_0006179		Extra bone on end of second long bone of hand|Pseudoepiphysis of the 2nd metacarpal
OBO:HP_0006180	Crowded carpal bones	biolink:OntologyClass	hp	UMLS:C1863317		http://purl.obolibrary.org/obo/HP_0006180		Crowded wrist bones
OBO:HP_0006184	Decreased palmar creases	biolink:OntologyClass	hp	UMLS:C1857483	Poorly defined or shallow palmar creases.	http://purl.obolibrary.org/obo/HP_0006184	hposlim_core	Shallow palm line|Hypoplastic palmar creases|Poorly formed palmar creases|Shallow palmar creases
OBO:HP_0006185	Enlarged proximal interphalangeal joints	biolink:OntologyClass	hp	UMLS:C1861350		http://purl.obolibrary.org/obo/HP_0006185		Enlarged innermost hinge joint
OBO:HP_0006187	Fusion of midphalangeal joints	biolink:OntologyClass	hp	UMLS:C1861332		http://purl.obolibrary.org/obo/HP_0006187		
OBO:HP_0006189	Prominent interdigital folds	biolink:OntologyClass	hp	UMLS:C1866000		http://purl.obolibrary.org/obo/HP_0006189		
OBO:HP_0006190	Radially deviated wrists	biolink:OntologyClass	hp	UMLS:C1861316		http://purl.obolibrary.org/obo/HP_0006190		
OBO:HP_0006191	Deep palmar crease	biolink:OntologyClass	hp	UMLS:C1857539	Excessively deep creases of the palm.	http://purl.obolibrary.org/obo/HP_0006191	hposlim_core	Deep palm line|Deep palmar creases
OBO:HP_0006192	Tapered phalanx of finger	biolink:OntologyClass	hp	UMLS:C4025084	Phalanges of the fingers becoming thinner toward the distal end.	http://purl.obolibrary.org/obo/HP_0006192		Tapered finger bone
OBO:HP_0006193	Thimble-shaped middle phalanges of hand	biolink:OntologyClass	hp	UMLS:C4025083	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.	http://purl.obolibrary.org/obo/HP_0006193		Thimble-shaped middle bones of hand
OBO:HP_0006200	Widened distal phalanges	biolink:OntologyClass	hp	UMLS:C1862421		http://purl.obolibrary.org/obo/HP_0006200		Widened outermost bone of limb
OBO:HP_0006201	Hypermobility of distal interphalangeal joints	biolink:OntologyClass	hp	UMLS:C1851811		http://purl.obolibrary.org/obo/HP_0006201		Increased mobility of outermost hinge joint
OBO:HP_0006202	Osteolysis of scaphoids	biolink:OntologyClass	hp	UMLS:C4025082		http://purl.obolibrary.org/obo/HP_0006202		
OBO:HP_0006203	Decreased movement range in interphalangeal joints	biolink:OntologyClass	hp	UMLS:C1836772		http://purl.obolibrary.org/obo/HP_0006203		Decreased range of movement range in hinge joints
OBO:HP_0006205	Irregular phalanges	biolink:OntologyClass	hp	UMLS:C4025081	Alteration of the normally smooth radiographic contour of phalanges producing an irregular appearance.	http://purl.obolibrary.org/obo/HP_0006205		Irregular finger bones
OBO:HP_0006206	Hypersegmentation of proximal phalanx of second finger	biolink:OntologyClass	hp	UMLS:C4025080	Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the second finger.	http://purl.obolibrary.org/obo/HP_0006206		
OBO:HP_0006207	Partial fusion of carpals	biolink:OntologyClass	hp	UMLS:C1844519		http://purl.obolibrary.org/obo/HP_0006207		
OBO:HP_0006208	Metaphyseal cupping of proximal phalanges	biolink:OntologyClass	hp	UMLS:C1834980	Metaphyseal cupping affecting the proximal phalanges.	http://purl.obolibrary.org/obo/HP_0006208		
OBO:HP_0006209	Partial-complete absence of 5th phalanges	biolink:OntologyClass	hp	UMLS:C1867928		http://purl.obolibrary.org/obo/HP_0006209		Partial-complete absence of 5th digital bone
OBO:HP_0006210	Postaxial oligodactyly	biolink:OntologyClass	hp	UMLS:C1867927		http://purl.obolibrary.org/obo/HP_0006210		
OBO:HP_0006213	Thin proximal phalanges with broad epiphyses of the hand	biolink:OntologyClass	hp	UMLS:C1862156|UMLS:C4025079		http://purl.obolibrary.org/obo/HP_0006213		Thin innermost bone with broad end part of the hand bone|Thin proximal phalanges with broad epiphyses
OBO:HP_0006216	Single interphalangeal crease of fifth finger	biolink:OntologyClass	hp	UMLS:C1850336	Presence of only one (instead of two, as normal) interphalangeal crease of the fifth finger.	http://purl.obolibrary.org/obo/HP_0006216		Fifth finger single interphalangeal crease
OBO:HP_0006217	Limited mobility of proximal interphalangeal joint	biolink:OntologyClass	hp	UMLS:C1857288		http://purl.obolibrary.org/obo/HP_0006217		Limited mobility of innermost hinge joint
OBO:HP_0006224	Tapering pointed ends of distal finger phalanges	biolink:OntologyClass	hp	UMLS:C4025078	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).	http://purl.obolibrary.org/obo/HP_0006224		
OBO:HP_0006226	Osteoarthritis of the first carpometacarpal joint	biolink:OntologyClass	hp	SNOMEDCT_US:37895003|UMLS:C0409956		http://purl.obolibrary.org/obo/HP_0006226		
OBO:HP_0006228	Valgus hand deformity	biolink:OntologyClass	hp	UMLS:C1860179		http://purl.obolibrary.org/obo/HP_0006228		
OBO:HP_0006230	Unilateral oligodactyly	biolink:OntologyClass	hp	UMLS:C3805861		http://purl.obolibrary.org/obo/HP_0006230		
OBO:HP_0006232	Expanded metacarpals with widened medullary cavities	biolink:OntologyClass	hp	UMLS:C1969288		http://purl.obolibrary.org/obo/HP_0006232		
OBO:HP_0006233	Osteoarthritis of the distal interphalangeal joint	biolink:OntologyClass	hp	SNOMEDCT_US:239869009|UMLS:C0409957		http://purl.obolibrary.org/obo/HP_0006233		
OBO:HP_0006234	Osteolysis involving tarsal bones	biolink:OntologyClass	hp	UMLS:C1833735	An increased resorption of bone matrix by osteoclasts leading to bony defects involving the tarsal bones.	http://purl.obolibrary.org/obo/HP_0006234		Tarsal bone osteolysis|Tarsal osteolysis
OBO:HP_0006236	Slender metacarpals	biolink:OntologyClass	hp	UMLS:C4025077	Decreased width of the metacarpal bones (that is, reduced diameter).	http://purl.obolibrary.org/obo/HP_0006236		Slender long bones of hand
OBO:HP_0006237	Prominent interphalangeal joints	biolink:OntologyClass	hp	UMLS:C1859115		http://purl.obolibrary.org/obo/HP_0006237		Prominent hinge joints
OBO:HP_0006239	Shortening of all middle phalanges of the toes	biolink:OntologyClass	hp	UMLS:C4021605	Abnormal shortening of all middle phalanges of toes.	http://purl.obolibrary.org/obo/HP_0006239		Shortening of all the middle bones of the toes|Brachymesophalangy of feet
OBO:HP_0006243	Phalangeal dislocation	biolink:OntologyClass	hp	UMLS:C2673396		http://purl.obolibrary.org/obo/HP_0006243		
OBO:HP_0006247	Enlarged interphalangeal joints	biolink:OntologyClass	hp	UMLS:C1859701		http://purl.obolibrary.org/obo/HP_0006247		Enlarged hinge joints
OBO:HP_0006248	Limited wrist movement	biolink:OntologyClass	hp	UMLS:C1840088	An abnormal limitation of the mobility of the wrist.	http://purl.obolibrary.org/obo/HP_0006248	hposlim_core	Limited movement of the wrist|Limited wrist movement
OBO:HP_0006251	Limited wrist extension	biolink:OntologyClass	hp	UMLS:C1862481		http://purl.obolibrary.org/obo/HP_0006251		
OBO:HP_0006252	Interphalangeal joint erosions	biolink:OntologyClass	hp	UMLS:C1850158		http://purl.obolibrary.org/obo/HP_0006252		
OBO:HP_0006253	Swelling of proximal interphalangeal joints	biolink:OntologyClass	hp	UMLS:C1860841		http://purl.obolibrary.org/obo/HP_0006253		Swelling of innermost hinge joints
OBO:HP_0006254	Elevated alpha-fetoprotein	biolink:OntologyClass	hp	UMLS:C0235971|UMLS:C0476489	An increased concentration of alpha-fetoprotein.	http://purl.obolibrary.org/obo/HP_0006254		Increased levels of alpha fetoprotein|Increased serum alpha-fetoprotein|Serum alpha-fetoprotein increased|Alpha fetoprotein abnormal
OBO:HP_0006256	Abnormality of hand joint mobility	biolink:OntologyClass	hp	UMLS:C4025076		http://purl.obolibrary.org/obo/HP_0006256		Abnormality of hand joint mobility
OBO:HP_0006257	Abnormality of carpal bone ossification	biolink:OntologyClass	hp	UMLS:C4025075		http://purl.obolibrary.org/obo/HP_0006257		Abnormal ankle bone maturation
OBO:HP_0006261	Abnormal phalangeal joint morphology of the hand	biolink:OntologyClass	hp	UMLS:C4021604		http://purl.obolibrary.org/obo/HP_0006261		Abnormality of the small joints of the hand|Abnormality of phalangeal joints of the hand
OBO:HP_0006262	Aplasia/Hypoplasia of the 5th finger	biolink:OntologyClass	hp	UMLS:C4025074	A small/hypoplastic or absent/aplastic 5th finger.	http://purl.obolibrary.org/obo/HP_0006262		Absent/small little finger|Absent/small pinkie finger|Absent/small pinky finger|Absent/underdeveloped little finger|Absent/underdeveloped pinkie finger|Absent/underdeveloped pinky finger
OBO:HP_0006263	Abnormality of the epiphyses of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4025073	Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 2nd finger.	http://purl.obolibrary.org/obo/HP_0006263		Abnormality of the end part of the index finger bone
OBO:HP_0006264	Aplasia/Hypoplasia of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4025072	A small/hypoplastic or absent/aplastic 2nd finger.	http://purl.obolibrary.org/obo/HP_0006264		Absent/small index finger|Absent/underdeveloped index finger
OBO:HP_0006265	Aplasia/Hypoplasia of fingers	biolink:OntologyClass	hp	UMLS:C4025071	Small/hypoplastic or absent/aplastic fingers.	http://purl.obolibrary.org/obo/HP_0006265		Absent/small fingers|Absent/underdeveloped fingers
OBO:HP_0006266	Small placenta	biolink:OntologyClass	hp	SNOMEDCT_US:289264006|UMLS:C0566694	Reduced size of the placenta.	http://purl.obolibrary.org/obo/HP_0006266		Small placenta
OBO:HP_0006267	Large placenta	biolink:OntologyClass	hp	SNOMEDCT_US:289263000|UMLS:C0566693	Increased size of the placenta.	http://purl.obolibrary.org/obo/HP_0006267		Large placenta|Placental enlargement
OBO:HP_0006268	Fluctuating splenomegaly	biolink:OntologyClass	hp	UMLS:C1835882	Intermittently increased size of the spleen.	http://purl.obolibrary.org/obo/HP_0006268		
OBO:HP_0006270	Hypoplastic spleen	biolink:OntologyClass	hp	UMLS:C1970617	Underdevelopment of the spleen.	http://purl.obolibrary.org/obo/HP_0006270		Underdeveloped spleen
OBO:HP_0006273	Pancreatic lymphangiectasis	biolink:OntologyClass	hp	UMLS:C1856162	The presence of lymphangiectasis in the pancreas.	http://purl.obolibrary.org/obo/HP_0006273		
OBO:HP_0006274	Reduced pancreatic beta cells	biolink:OntologyClass	hp	UMLS:C1856904	Reduced number of beta cells in the pancreatic islets of Langerhans.	http://purl.obolibrary.org/obo/HP_0006274		
OBO:HP_0006276	Hyperechogenic pancreas	biolink:OntologyClass	hp	UMLS:C1857945		http://purl.obolibrary.org/obo/HP_0006276		
OBO:HP_0006277	Pancreatic hyperplasia	biolink:OntologyClass	hp	UMLS:C1851733	Hyperplasia of the pancreas.	http://purl.obolibrary.org/obo/HP_0006277		
OBO:HP_0006278	Ectopic pancreatic tissue	biolink:OntologyClass	hp	SNOMEDCT_US:264304000|UMLS:C0994638	The presence of pancreatic tissue outside the normal pancreas, in many cases along the foregut and proximal midgut.	http://purl.obolibrary.org/obo/HP_0006278		Abnormal pancreas location
OBO:HP_0006279	Beta-cell dysfunction	biolink:OntologyClass	hp	UMLS:C1969875		http://purl.obolibrary.org/obo/HP_0006279		
OBO:HP_0006280	Chronic pancreatitis	biolink:OntologyClass	hp	MSH:D050500|SNOMEDCT_US:233870001|SNOMEDCT_US:234689009|SNOMEDCT_US:235494005|UMLS:C0149521	A chronic form of pancreatitis.	http://purl.obolibrary.org/obo/HP_0006280		Chronic pancreas inflammation
OBO:HP_0006282	Generalized hypoplasia of dental enamel	biolink:OntologyClass	hp	UMLS:C4025070|UMLS:C4280462	A generalized form of developmental hypoplasia of the dental enamel.	http://purl.obolibrary.org/obo/HP_0006282		Generalised hypoplasia of dental enamel|Generalized hypoplasia of tooth enamel|Generalized dysplasia of tooth enamel
OBO:HP_0006283	Multiple unerupted teeth	biolink:OntologyClass	hp	UMLS:C4025069	The presence of multiple embedded tooth germs which have failed to erupt.	http://purl.obolibrary.org/obo/HP_0006283		Multiple non-erupting teeth|Multiple unerupted teeth|Failure of eruption of multiple teeth
OBO:HP_0006285	Hypomineralization of enamel	biolink:OntologyClass	hp	SNOMEDCT_US:109487003|UMLS:C3665628|UMLS:C4280253|UMLS:C4280460|UMLS:C4280461	A decreased amount of enamel mineralization.	http://purl.obolibrary.org/obo/HP_0006285		Poorly mineralized tooth enamel|Decreased enamel mineralisation|Mottled tooth enamel|Increased porosity of tooth enamel|Fluorosis of tooth enamel|White spot lesions of tooth enamel
OBO:HP_0006286	Yellow-brown discoloration of the teeth	biolink:OntologyClass	hp	UMLS:C1863008		http://purl.obolibrary.org/obo/HP_0006286		Yellow-brown discoloration of the teeth|Yellow-brown discolored teeth|Yellow-brown tooth shade
OBO:HP_0006288	Advanced eruption of teeth	biolink:OntologyClass	hp	SNOMEDCT_US:16000003|UMLS:C0266054	Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age.	http://purl.obolibrary.org/obo/HP_0006288		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
OBO:HP_0006289	Agenesis of central incisor	biolink:OntologyClass	hp	UMLS:C1855000|UMLS:C4020819	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.	http://purl.obolibrary.org/obo/HP_0006289		Absent central incisor|Absent central incisors|Missing central incisors|Failure of development of central incisor
OBO:HP_0006290	Discolored lateral incisors	biolink:OntologyClass	hp	UMLS:C1866510|UMLS:C4280459	The presence of discolored lateral incisors.	http://purl.obolibrary.org/obo/HP_0006290		Abnormality of color of front teeth|Discolored front teeth|Discoloured lateral incisors|Abnormality of color of lateral incisor|Abnormality of shade of lateral incisor
OBO:HP_0006291	Marked delay in eruption of permanent teeth	biolink:OntologyClass	hp	UMLS:C1863009		http://purl.obolibrary.org/obo/HP_0006291		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
OBO:HP_0006292	Abnormality of dental eruption	biolink:OntologyClass	hp	SNOMEDCT_US:1086101000119107|SNOMEDCT_US:234949000|UMLS:C0012767|UMLS:C1859363|UMLS:C3874458	An abnormality of tooth eruption.	http://purl.obolibrary.org/obo/HP_0006292		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
OBO:HP_0006293	Agenesis of maxillary central incisor	biolink:OntologyClass	hp	UMLS:C4025068|UMLS:C4280458	Agenesis of upper secondary incisor or of upper central primary incisor.	http://purl.obolibrary.org/obo/HP_0006293		Missing upper central incisor|Failure of development of maxillary central incisor|Absence of maxillary central incisor|Missing maxillary central incisor
OBO:HP_0006297	Hypoplasia of dental enamel	biolink:OntologyClass	hp	MSH:D003744|SNOMEDCT_US:26597004|SNOMEDCT_US:699382004|SNOMEDCT_US:699421005|UMLS:C0011351|UMLS:C1851854|UMLS:C4280456|UMLS:C4280457	Developmental hypoplasia of the dental enamel.	http://purl.obolibrary.org/obo/HP_0006297		Thin dental enamel|Thin tooth enamel|Underdeveloped teeth enamel|Defective enamel matrix|Dental enamel hypoplasia|Enamel hypoplasia|Hypoplasia of tooth enamel|Dysplasia of tooth enamel|Enamel dysplasia
OBO:HP_0006298	Prolonged bleeding after dental extraction	biolink:OntologyClass	hp	UMLS:C1969572	Prolonged bleeding post dental extraction sufficient to require medical intervention.	http://purl.obolibrary.org/obo/HP_0006298		Prolonged bleeding after dental extraction
OBO:HP_0006302	Dagger-shaped pulp calcifications	biolink:OntologyClass	hp	UMLS:C4025067	Dagger-shaped calcifications in the dental pulp.	http://purl.obolibrary.org/obo/HP_0006302		Dagger shaped pulp denticles|Dagger shaped pulp stones
OBO:HP_0006304	Widely-spaced incisors	biolink:OntologyClass	hp	SNOMEDCT_US:196409003|UMLS:C0399545		http://purl.obolibrary.org/obo/HP_0006304		Gap between front teeth|Widely spaced front teeth|Anterior diastema of teeth|Diastema between front teeth|Diastema between incisors
OBO:HP_0006308	Atrophy of alveolar ridges	biolink:OntologyClass	hp	UMLS:C1855642|UMLS:C4280454|UMLS:C4280455		http://purl.obolibrary.org/obo/HP_0006308		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
OBO:HP_0006311	Generalized microdontia	biolink:OntologyClass	hp	UMLS:C4025065	A generalized form of microdontia.	http://purl.obolibrary.org/obo/HP_0006311		Decreased size of all teeth|Decreased tooth mass|Decreased width of all teeth|Generalised microdontia|Hypotrophy of all teeth|Tooth mass insufficiency
OBO:HP_0006313	Widely spaced primary teeth	biolink:OntologyClass	hp	UMLS:C4021603	Increased space between the primary teeth. Note this phenotype should be distinguished from increased space due purely to microdontia.	http://purl.obolibrary.org/obo/HP_0006313		Wide gaps between baby teeth|Widely spaced baby teeth|Widely spaced milk teeth|Generalized spacing of primary teeth|Wide gaps between primary teeth|Widely spaced deciduous teeth
OBO:HP_0006315	Single median maxillary incisor	biolink:OntologyClass	hp	MSH:C537342|SNOMEDCT_US:707609006|UMLS:C1840235	The presence of a single, median maxillary incisor, affecting both the primary maxillary incisor and the permanent maxillary incisor.	http://purl.obolibrary.org/obo/HP_0006315	hposlim_core	Only one upper front tooth|Single central incisor|Single central upper incisor|Single maxillary central incisor|Single median incisor|Single median maxillary central incisor|Single midline maxillary incisor|Single midline upper front tooth|Solitary median maxillary central incisor|Solitary midline maxillary central incisor|Solitary median maxillary central incisor syndrome
OBO:HP_0006316	Irregularly spaced teeth	biolink:OntologyClass	hp	UMLS:C1845878	Irregular distribution of the teeth along the dental arch, i.e., and irregular spatial pattern of teeth.	http://purl.obolibrary.org/obo/HP_0006316		Irregular dental spacing|Irregularly spaced teeth|Variability of spacing between teeth|Variability of dental spacing
OBO:HP_0006321	Multiple non-erupting secondary teeth	biolink:OntologyClass	hp	UMLS:C1848904		http://purl.obolibrary.org/obo/HP_0006321		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
OBO:HP_0006323	Premature loss of primary teeth	biolink:OntologyClass	hp	SNOMEDCT_US:122483006|SNOMEDCT_US:39034005|UMLS:C0266052	Loss of the primary (also known as deciduous) teeth before the usual age.	http://purl.obolibrary.org/obo/HP_0006323	hposlim_core	Early loss of baby teeth|Premature loss of baby teeth|Early loss of deciduous teeth|Early loss of primary teeth|Premature deciduous tooth loss|Premature loss of deciduous teeth|Premature exfoliation of deciduous teeth|Premature exfoliation of primary teeth
OBO:HP_0006326	Buried teeth encased in mucopolysaccharide	biolink:OntologyClass	hp	UMLS:C4025064		http://purl.obolibrary.org/obo/HP_0006326		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
OBO:HP_0006329	Alveolar process hypoplasia	biolink:OntologyClass	hp	SNOMEDCT_US:708494003|UMLS:C1848905|UMLS:C3872671|UMLS:C4280451|UMLS:C4280452|UMLS:C4280453	Underdevelopment of the alveolar process (also known as alveolar bone).	http://purl.obolibrary.org/obo/HP_0006329		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
OBO:HP_0006330	Rotated maxillary central incisors	biolink:OntologyClass	hp	UMLS:C4025063		http://purl.obolibrary.org/obo/HP_0006330		Rotated upper central incisors|Rotated upper front teeth|Turned upper front teeth|Twisted upper front teeth
OBO:HP_0006332	Supernumerary maxillary incisor	biolink:OntologyClass	hp	UMLS:C4025062	The presence of a supernumerary, i.e., extra, maxillary incisor, either the primary maxillary incisor or the permanent maxillary incisor.	http://purl.obolibrary.org/obo/HP_0006332		Extra upper front tooth
OBO:HP_0006333	Crowded maxillary incisors	biolink:OntologyClass	hp	UMLS:C4021602	A type of dental misalignment with crowded central incisors, i.e., of maxillary secondary incisor, or of maxillary central primary incisor.	http://purl.obolibrary.org/obo/HP_0006333		Crowded upper front teeth|Crowded upper incisors|Overlapped upper front teeth|Overlapped maxillary incisors
OBO:HP_0006334	Hypoplasia of the primary teeth	biolink:OntologyClass	hp	UMLS:C1855694	Developmental hypoplasia of the primary teeth.	http://purl.obolibrary.org/obo/HP_0006334		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
OBO:HP_0006335	Persistence of primary teeth	biolink:OntologyClass	hp	SNOMEDCT_US:57650002|UMLS:C0266050	Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth.	http://purl.obolibrary.org/obo/HP_0006335		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
OBO:HP_0006336	Short dental roots	biolink:OntologyClass	hp	UMLS:C2678330	Short dental root.	http://purl.obolibrary.org/obo/HP_0006336		Underdeveloped tooth roots|Decreased length of dental roots|Decreased length of tooth roots|Short dental roots|Short tooth roots|Underdeveloped dental roots
OBO:HP_0006337	Premature eruption of permanent teeth	biolink:OntologyClass	hp	UMLS:C4021601	Premature tooth eruption of the permanent dentition.	http://purl.obolibrary.org/obo/HP_0006337	hposlim_core	Early eruption of adult teeth|Early eruption of permanent teeth|Premature eruption of adult teeth|Precocious eruption of secondary dentition|Precocious eruption of secondary teeth
OBO:HP_0006338	Malformation of mandibular premolar	biolink:OntologyClass	hp	UMLS:C4025061	An abnormality of the morphology of secondary premolar tooth.	http://purl.obolibrary.org/obo/HP_0006338		Malformation of lower premolar|Malformation of mandibular bicuspid
OBO:HP_0006339	Conical mandibular incisor	biolink:OntologyClass	hp	UMLS:C4020818|UMLS:C4280449|UMLS:C4280450	An abnormal conical morphology of the primary or permanent mandibular incisors.	http://purl.obolibrary.org/obo/HP_0006339		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
OBO:HP_0006342	Peg-shaped maxillary lateral incisors	biolink:OntologyClass	hp	UMLS:C4025060	Peg-shaped upper lateral secondary incisor tooth.	http://purl.obolibrary.org/obo/HP_0006342		Peg laterals|Peg shaped upper lateral incisors|Cone shaped upper lateral incisors|Conical maxillary lateral incisors|Conoid upper lateral incisors|Pointed upper lateral incisors
OBO:HP_0006344	Abnormality of primary molar morphology	biolink:OntologyClass	hp	UMLS:C4025059	An abnormality of morphology of primary molar.	http://purl.obolibrary.org/obo/HP_0006344		Abnormality of shape of baby molar|Abnormality of deciduous molar morphology|Abnormality of shape of primary molar
OBO:HP_0006346	Screwdriver-shaped incisors	biolink:OntologyClass	hp	UMLS:C4025058	An abnormality of morphology of the incisor tooth in which the tooth is shaped like a screwdriver blade, i.e., having a rhomboid shape.	http://purl.obolibrary.org/obo/HP_0006346		Screwdriver shaped front teeth|Screwdriver-shaped incisors
OBO:HP_0006347	Microdontia of primary teeth	biolink:OntologyClass	hp	UMLS:C1855694|UMLS:C1856203	Decreased size of the primary teeth.	http://purl.obolibrary.org/obo/HP_0006347		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
OBO:HP_0006349	Agenesis of permanent teeth	biolink:OntologyClass	hp	MSH:C563203|SNOMEDCT_US:109444001|SNOMEDCT_US:234948008|UMLS:C0457756|UMLS:C1290511	A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth.	http://purl.obolibrary.org/obo/HP_0006349		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
OBO:HP_0006350	Obliteration of the pulp chamber	biolink:OntologyClass	hp	UMLS:C4020817|UMLS:C4025057|UMLS:C4280448	Obliteration of the pulp chambers owing to mineralization of the dental pulp.	http://purl.obolibrary.org/obo/HP_0006350		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
OBO:HP_0006352	Failure of eruption of permanent teeth	biolink:OntologyClass	hp	UMLS:C4025056|UMLS:C4280447	Lack of tooth eruption of the secondary dentition.	http://purl.obolibrary.org/obo/HP_0006352		Unerupted adult teeth|Unerupted permanent teeth|Unerupted adult dentition|Unerupted permanent dentition|Failure of eruption of adult teeth
OBO:HP_0006353	Hypoplasia of the tooth germ	biolink:OntologyClass	hp	UMLS:C4025055	Developmental hypoplasia of the tooth germ, i.e., of the structure that forms in odontogenesis that will develop into a tooth.	http://purl.obolibrary.org/obo/HP_0006353		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
OBO:HP_0006355	Agenesis of mandibular central incisor	biolink:OntologyClass	hp	UMLS:C1840225|UMLS:C4025054	Agenesis of lower secondary incisor or lower primary incisor.	http://purl.obolibrary.org/obo/HP_0006355		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
OBO:HP_0006357	Premature loss of permanent teeth	biolink:OntologyClass	hp	UMLS:C1969738	Premature loss of the permanent teeth.	http://purl.obolibrary.org/obo/HP_0006357		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
OBO:HP_0006358	Shovel-shaped maxillary central incisors	biolink:OntologyClass	hp	UMLS:C1833168	Incisors with a thick marginal ridge surrounding a deep lingual fossa are termed shovel-shaped incisors.	http://purl.obolibrary.org/obo/HP_0006358		Shovel-shaped upper front teeth
OBO:HP_0006361	Irregular femoral epiphysis	biolink:OntologyClass	hp	UMLS:C1850658		http://purl.obolibrary.org/obo/HP_0006361		Irregular thighbone end part
OBO:HP_0006362	Varus deformity of humeral neck	biolink:OntologyClass	hp	UMLS:C1854948		http://purl.obolibrary.org/obo/HP_0006362		
OBO:HP_0006366	Adductor longus contractures	biolink:OntologyClass	hp	UMLS:C1859524		http://purl.obolibrary.org/obo/HP_0006366		
OBO:HP_0006367	Crumpled long bones	biolink:OntologyClass	hp	UMLS:C1970497	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.	http://purl.obolibrary.org/obo/HP_0006367		Crumpled long bones
OBO:HP_0006368	Forearm reduction defects	biolink:OntologyClass	hp	UMLS:C1849327		http://purl.obolibrary.org/obo/HP_0006368		
OBO:HP_0006369	Irregular patellae	biolink:OntologyClass	hp	UMLS:C1836870	An alteration of the normally relatively smooth margins of the kneecap in radiographic images leading to an irregular contour.	http://purl.obolibrary.org/obo/HP_0006369		Irregular patellar contour|Irregular patellar margins
OBO:HP_0006370	Distal ulnar epiphyseal stippling	biolink:OntologyClass	hp	UMLS:C4021600	The presence of abnormal punctate (speckled, dot-like) calcifications in the distal epiphysis of the ulna.	http://purl.obolibrary.org/obo/HP_0006370		Distal ulnar epiphyseal calcifications
OBO:HP_0006371	Broad long bone diaphyses	biolink:OntologyClass	hp	UMLS:C4025053	Increased width of the diaphysis of long bones.	http://purl.obolibrary.org/obo/HP_0006371		Broad shaft of long bone|Wide shaft of long bone
OBO:HP_0006375	Dumbbell-shaped femur	biolink:OntologyClass	hp	UMLS:C4025052	The femur is shortened and displays flaring (widening) of the metaphyses.	http://purl.obolibrary.org/obo/HP_0006375		Dumbbell-shaped thighbone
OBO:HP_0006376	Limited elbow flexion	biolink:OntologyClass	hp	UMLS:C1856922		http://purl.obolibrary.org/obo/HP_0006376		
OBO:HP_0006378	Osteolysis of patellae	biolink:OntologyClass	hp	UMLS:C4025051		http://purl.obolibrary.org/obo/HP_0006378		
OBO:HP_0006379	Proximal tibial hypoplasia	biolink:OntologyClass	hp	UMLS:C1856029		http://purl.obolibrary.org/obo/HP_0006379		Proximal tibial hypopolasia
OBO:HP_0006380	Knee flexion contracture	biolink:OntologyClass	hp	SNOMEDCT_US:202289003|UMLS:C0409355	A bent (flexed) knee joint that cannot be straightened actively or passively.	http://purl.obolibrary.org/obo/HP_0006380	hposlim_core	Inability to straighten knee|Contractures of knees|Contractures of the knees|Flexion contracture of knees|Flexion contractures at both knees|Flexion contractures of knees|Flexion deformity of the knee|Knee contracture|Knee contractures|Knee flexion contractures|Knee flexion deformity
OBO:HP_0006381	Rudimentary fibula	biolink:OntologyClass	hp	UMLS:C1844706	Absent or nearly absent fibula. (Does not include aplastic)	http://purl.obolibrary.org/obo/HP_0006381		Small to absent calf bone|Rudimentary to absent fibulae|Small to absent fibula
OBO:HP_0006383	Progressive bowing of long bones	biolink:OntologyClass	hp	UMLS:C1857137	Progressive bending or abnormal curvature of a long bone.	http://purl.obolibrary.org/obo/HP_0006383		
OBO:HP_0006384	Club-shaped distal femur	biolink:OntologyClass	hp	UMLS:C1857505	An abnormal conformation of the femur that becomes gradually enlarged towards the distal end. This feature affects the distal femoral metaphysis and epiphysis.	http://purl.obolibrary.org/obo/HP_0006384		Club-shaped outermost end of thighbone|Club-shaped distal femora
OBO:HP_0006385	Short lower limbs	biolink:OntologyClass	hp	SNOMEDCT_US:249786007|UMLS:C0426901	Shortening of the legs related to developmental hypoplasia of the bones of the leg.	http://purl.obolibrary.org/obo/HP_0006385	hposlim_core	Short legs|Short lower limbs
OBO:HP_0006386	Hypoplastic distal radial epiphyses	biolink:OntologyClass	hp	UMLS:C1969286	Underdevelopment of the distal epiphysis of the radius.	http://purl.obolibrary.org/obo/HP_0006386		
OBO:HP_0006387	Wide distal femoral metaphysis	biolink:OntologyClass	hp	UMLS:C1849309	Increased width of the distal part of the shaft (metaphysis) of the femur.	http://purl.obolibrary.org/obo/HP_0006387		Broad outermost wide portion of thighbone|Wide distal metaphysis of femur
OBO:HP_0006389	Limited knee flexion	biolink:OntologyClass	hp	UMLS:C1839512	Reduced ability to flex (bend) the knee joint.	http://purl.obolibrary.org/obo/HP_0006389		
OBO:HP_0006390	Anterior tibial bowing	biolink:OntologyClass	hp	UMLS:C1861937	An abnormal anterior bending or curvature of the tibia.	http://purl.obolibrary.org/obo/HP_0006390		Anterior bowing of tibia
OBO:HP_0006391	Overtubulated long bones	biolink:OntologyClass	hp	UMLS:C1848769	Overconstriction, or narrowness of the diaphysis and metaphysis of long bones.	http://purl.obolibrary.org/obo/HP_0006391		
OBO:HP_0006392	Increased density of long bones	biolink:OntologyClass	hp	UMLS:C1849307	An abnormal increase in the bone density of the long bones.	http://purl.obolibrary.org/obo/HP_0006392		Increased density of long bones
OBO:HP_0006394	Limited pronation/supination of forearm	biolink:OntologyClass	hp	UMLS:C1861331	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).	http://purl.obolibrary.org/obo/HP_0006394	hposlim_core	Limited pronation/supination of forearm
OBO:HP_0006397	Lateral displacement of patellae	biolink:OntologyClass	hp	UMLS:C1860156		http://purl.obolibrary.org/obo/HP_0006397		
OBO:HP_0006398	Flat distal femoral epiphysis	biolink:OntologyClass	hp	UMLS:C4021599	An abnormal flattening of the distal epiphysis of femur.	http://purl.obolibrary.org/obo/HP_0006398		Flat end part of outermost thighbone|Flattened distal femoral epiphyses
OBO:HP_0006400	Absent knee epiphyses	biolink:OntologyClass	hp	UMLS:C1859462		http://purl.obolibrary.org/obo/HP_0006400		Absent knee end part
OBO:HP_0006402	Distal shortening of limbs	biolink:OntologyClass	hp	UMLS:C1840307		http://purl.obolibrary.org/obo/HP_0006402		Short outer part of limbs
OBO:HP_0006406	Club-shaped proximal femur	biolink:OntologyClass	hp	UMLS:C1968611	An abnormal conformation of the femur that becomes gradually enlarged towards the proximal end. This feature affects the proximal femoral metaphysis and epiphysis.	http://purl.obolibrary.org/obo/HP_0006406		Club-shaped innermost end of thighbone
OBO:HP_0006407	Irregular distal femoral epiphysis	biolink:OntologyClass	hp	UMLS:C4025050	Anomaly of the contour of the Distal epiphysis of femur such that its normally smooth appearance is irregular.	http://purl.obolibrary.org/obo/HP_0006407		Irregular outermost thighbone end part
OBO:HP_0006408	Distal tapering femur	biolink:OntologyClass	hp	UMLS:C4025049		http://purl.obolibrary.org/obo/HP_0006408		Tapering of outermost end of thighbone
OBO:HP_0006409	Progressive leg bowing	biolink:OntologyClass	hp	UMLS:C1855191	Progressive bending or abnormal curvature of the leg.	http://purl.obolibrary.org/obo/HP_0006409		
OBO:HP_0006413	Broad tibial metaphyses	biolink:OntologyClass	hp	UMLS:C2678328		http://purl.obolibrary.org/obo/HP_0006413		Broad wide portion of shankbone|Broad wide portion of shinbone
OBO:HP_0006414	Distal tibial bowing	biolink:OntologyClass	hp	UMLS:C4021598	A bending or abnormal curvature of the distal portion of the tibia.	http://purl.obolibrary.org/obo/HP_0006414		Bowing of the distal tibia|Tibial bowing at ankle
OBO:HP_0006415	Cortically dense long tubular bones	biolink:OntologyClass	hp	UMLS:C1849276	Increased density of the compact bone of long bone.	http://purl.obolibrary.org/obo/HP_0006415		
OBO:HP_0006417	Broad femoral metaphyses	biolink:OntologyClass	hp	UMLS:C1864854		http://purl.obolibrary.org/obo/HP_0006417		Broad wide portion of thigh bone
OBO:HP_0006420	Asymmetric radial dysplasia	biolink:OntologyClass	hp	UMLS:C1969396	The presence of asymmetric developmental dysplasia of the radius.	http://purl.obolibrary.org/obo/HP_0006420		
OBO:HP_0006423	Peg-like central prominence of distal tibial metaphyses	biolink:OntologyClass	hp	UMLS:C1846160		http://purl.obolibrary.org/obo/HP_0006423		
OBO:HP_0006424	Elongated radius	biolink:OntologyClass	hp	UMLS:C4025048	Increased length of the radius.	http://purl.obolibrary.org/obo/HP_0006424		
OBO:HP_0006426	Rudimentary to absent tibiae	biolink:OntologyClass	hp	UMLS:C1968943		http://purl.obolibrary.org/obo/HP_0006426		
OBO:HP_0006429	Broad femoral neck	biolink:OntologyClass	hp	UMLS:C1849016	An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).	http://purl.obolibrary.org/obo/HP_0006429		Broadening of femoral neck|Wide femoral neck|Wide neck of thigh bone|Widened femoral necks
OBO:HP_0006431	Proximal femoral metaphyseal abnormality	biolink:OntologyClass	hp	UMLS:C4025047	An anomaly of the metaphysis of the proximal femur (close to the hip).	http://purl.obolibrary.org/obo/HP_0006431		Abnormal wide portion of innermost thighbone
OBO:HP_0006432	Trapezoidal distal femoral condyles	biolink:OntologyClass	hp	UMLS:C1843983		http://purl.obolibrary.org/obo/HP_0006432		
OBO:HP_0006433	Radial dysplasia	biolink:OntologyClass	hp	UMLS:C4025046	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.	http://purl.obolibrary.org/obo/HP_0006433		Dysplastic radii|Radial longitudinal deficiency
OBO:HP_0006434	Hypoplasia of proximal radius	biolink:OntologyClass	hp	UMLS:C1859477	Proximal radial shortening owing to a congenital defect of development.	http://purl.obolibrary.org/obo/HP_0006434		Proximal radial shortening
OBO:HP_0006436	obsolete Shortening of the tibia	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0006436		
OBO:HP_0006437	Disproportionate prominence of the femoral medial condyle	biolink:OntologyClass	hp	UMLS:C1834392		http://purl.obolibrary.org/obo/HP_0006437		
OBO:HP_0006438	Enlargement of the distal femoral epiphysis	biolink:OntologyClass	hp	UMLS:C1843105	An abnormal enlargement of the distal epiphysis of the femur.	http://purl.obolibrary.org/obo/HP_0006438		Enlargement of the outermost thighbone end part|Large distal femoral epiphyses
OBO:HP_0006439	Radioulnar dislocation	biolink:OntologyClass	hp	UMLS:C2673394		http://purl.obolibrary.org/obo/HP_0006439		Dislocated radioulnar joints
OBO:HP_0006440	Increased density of long bone diaphyses	biolink:OntologyClass	hp	UMLS:C1844516		http://purl.obolibrary.org/obo/HP_0006440		Increased density of shaft of long bone
OBO:HP_0006441	Lateral humeral condyle aplasia	biolink:OntologyClass	hp	UMLS:C1833878		http://purl.obolibrary.org/obo/HP_0006441		
OBO:HP_0006442	Hypoplasia of proximal fibula	biolink:OntologyClass	hp	UMLS:C1859478	Underdevelopment or shortening of the end of the fibula (calf bone) nearest the knee.	http://purl.obolibrary.org/obo/HP_0006442		Small innermost upper end of calf bone|Underdeveloped innermost upper end of calf bone
OBO:HP_0006443	Patellar aplasia	biolink:OntologyClass	hp	UMLS:C1868578	Absence of the patella.	http://purl.obolibrary.org/obo/HP_0006443	hposlim_core	Absent kneecap|Absent patella|Absent patellae|Absent patellas|Aplastic patellae
OBO:HP_0006446	Dysplastic patella	biolink:OntologyClass	hp	UMLS:C1849580		http://purl.obolibrary.org/obo/HP_0006446		
OBO:HP_0006449	Distal radial epiphyseal osteolysis	biolink:OntologyClass	hp	UMLS:C1850145		http://purl.obolibrary.org/obo/HP_0006449		
OBO:HP_0006450	Multicentric ossification of proximal femoral epiphyses	biolink:OntologyClass	hp	UMLS:C1857193		http://purl.obolibrary.org/obo/HP_0006450		
OBO:HP_0006453	Lateral displacement of the femoral head	biolink:OntologyClass	hp	UMLS:C1855758	A developmental anomaly with lateral displacement of the femoral head.	http://purl.obolibrary.org/obo/HP_0006453		Laterally displaced femoral heads
OBO:HP_0006454	Delayed patellar ossification	biolink:OntologyClass	hp	UMLS:C4021597|UMLS:C4280446	Formation of bone in the patella later than normal.	http://purl.obolibrary.org/obo/HP_0006454		Delayed bone maturation of the knee cap|Delayed patellae ossification
OBO:HP_0006456	Irregular proximal tibial epiphyses	biolink:OntologyClass	hp	UMLS:C4025045	Anomaly of the contour of the proximal epiphysis of the tibia such that its normally smooth appearance is irregular.	http://purl.obolibrary.org/obo/HP_0006456		Irregular innermost shankbone end part|Irregular innermost shinbone end part
OBO:HP_0006459	Dorsal subluxation of ulna	biolink:OntologyClass	hp	UMLS:C1851988	Partial dislocation of the ulna in the dorsal direction.	http://purl.obolibrary.org/obo/HP_0006459		
OBO:HP_0006460	Increased laxity of ankles	biolink:OntologyClass	hp	UMLS:C1850854		http://purl.obolibrary.org/obo/HP_0006460		
OBO:HP_0006461	Proximal femoral epiphysiolysis	biolink:OntologyClass	hp	MSH:D060048|UMLS:C0149887	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.	http://purl.obolibrary.org/obo/HP_0006461		Slipped end part of innermost thighbone|Slipped capilal femoral epiphysis|Slipped capital femoral epiphyses
OBO:HP_0006462	Generalized bone demineralization	biolink:OntologyClass	hp	UMLS:C1833326	A generalized decrease in bone mineral density.	http://purl.obolibrary.org/obo/HP_0006462		Generalised bone demineralization
OBO:HP_0006463	Rickets of the lower limbs	biolink:OntologyClass	hp	UMLS:C1833323		http://purl.obolibrary.org/obo/HP_0006463		
OBO:HP_0006465	Periosteal thickening of long tubular bones	biolink:OntologyClass	hp	UMLS:C1834345	Thickening of the periosteum of long bone.	http://purl.obolibrary.org/obo/HP_0006465		
OBO:HP_0006466	Ankle flexion contracture	biolink:OntologyClass	hp	UMLS:C1837407	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.	http://purl.obolibrary.org/obo/HP_0006466		Ankle contracture|Ankle contractures|Contractures of the ankles
OBO:HP_0006467	Limited shoulder movement	biolink:OntologyClass	hp	UMLS:C1851313	A limitation of the range of movement of the shoulder joint.	http://purl.obolibrary.org/obo/HP_0006467	hposlim_core	Limited shoulder movement
OBO:HP_0006470	Thin long bone diaphyses	biolink:OntologyClass	hp	UMLS:C1859449	Decreased width of the diaphysis of long bones.	http://purl.obolibrary.org/obo/HP_0006470		Thin shaft of long bone|Thin diaphyses of long bones
OBO:HP_0006471	Fixed elbow flexion	biolink:OntologyClass	hp	UMLS:C4025044		http://purl.obolibrary.org/obo/HP_0006471		
OBO:HP_0006473	Anterior bowing of long bones	biolink:OntologyClass	hp	UMLS:C1850644	An abnormal anterior curvature of a long bone.	http://purl.obolibrary.org/obo/HP_0006473		
OBO:HP_0006476	Abnormality of the pancreatic islet cells	biolink:OntologyClass	hp	UMLS:C4025043	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.	http://purl.obolibrary.org/obo/HP_0006476		
OBO:HP_0006477	Abnormality of the alveolar ridges	biolink:OntologyClass	hp	SNOMEDCT_US:235013007|UMLS:C0341007|UMLS:C4280445	Any abnormality of the alveolar ridges (on the upper or lower jaws). The alveolar ridges contain the sockets (alveoli) of the teeth.	http://purl.obolibrary.org/obo/HP_0006477		Abnormality of gum ridge|Abnormality of alveolar margin|Abnormality of dentoalveolar ridges|Defect in alveolar ridge|Abnormality of alveolar processes of jaw
OBO:HP_0006479	Abnormality of the dental pulp	biolink:OntologyClass	hp	UMLS:C4025042	An abnormality of the dental pulp.	http://purl.obolibrary.org/obo/HP_0006479		Abnormality of tooth pulp|Endodontic abnormality
OBO:HP_0006480	Premature loss of teeth	biolink:OntologyClass	hp	SNOMEDCT_US:234974002|SNOMEDCT_US:42756003|UMLS:C0232513|UMLS:C0399385	Premature loss of teeth not related to trauma or neglect.	http://purl.obolibrary.org/obo/HP_0006480	hposlim_core	Early tooth loss|Loss of teeth|Premature teeth loss|Premature tooth loss|Premature exfoliation of teeth
OBO:HP_0006481	Abnormality of primary teeth	biolink:OntologyClass	hp	UMLS:C4021596	Any abnormality of the primary tooth.	http://purl.obolibrary.org/obo/HP_0006481		Abnormality of baby teeth|Abnormality of milk teeth|Abnormality of deciduous teeth
OBO:HP_0006482	Abnormality of dental morphology	biolink:OntologyClass	hp	MSH:D014071|SNOMEDCT_US:422775003|UMLS:C0040427|UMLS:C0262444	An abnormality of the morphology of the tooth.	http://purl.obolibrary.org/obo/HP_0006482	hposlim_core	Abnormality of dental shape|Abnormally shaped teeth|Deformity of teeth|Dental deformity|Dental malformations|Malformed teeth|Misshapen teeth|Misshapened teeth|Abnormality of shape of tooth|Malformation of teeth
OBO:HP_0006483	Abnormal number of teeth	biolink:OntologyClass	hp	SNOMEDCT_US:335443002|UMLS:C1290508	The presence of an altered number of of teeth.	http://purl.obolibrary.org/obo/HP_0006483		Abnormal number of teeth|Abnormal tooth count|Abnormal complement of teeth
OBO:HP_0006485	Agenesis of incisor	biolink:OntologyClass	hp	UMLS:C4020815|UMLS:C4020816|UMLS:C4083290	Agenesis of incisor.	http://purl.obolibrary.org/obo/HP_0006485		Absence of front tooth|Absence of incisors|Missing front tooth|Missing incisors|Failure of development of incisor
OBO:HP_0006486	Abnormality of the dental root	biolink:OntologyClass	hp	UMLS:C4025041	An abnormality of the dental root.	http://purl.obolibrary.org/obo/HP_0006486		Abnormality of the dental root|Abnormality of tooth root
OBO:HP_0006487	Bowing of the long bones	biolink:OntologyClass	hp	UMLS:C1855340	A bending or abnormal curvature of a long bone.	http://purl.obolibrary.org/obo/HP_0006487		Bowed long bones|Bowing of long bones|Bowing of the long bones|Camptomelia|Diaphyseal bowing|Diaphyseal bowing of long bones
OBO:HP_0006488	Bowing of the arm	biolink:OntologyClass	hp	UMLS:C0426863	A bending or abnormal curvature affecting a long bone of the arm.	http://purl.obolibrary.org/obo/HP_0006488		Bending of the arm|Bowing of the arm
OBO:HP_0006489	Abnormality of the femoral metaphysis	biolink:OntologyClass	hp	UMLS:C4025040|UMLS:C4280444	An anomaly of the femoral metaphysis.	http://purl.obolibrary.org/obo/HP_0006489		Abnormality of the wide portion of the femoral bone
OBO:HP_0006490	Abnormality of lower-limb metaphyses	biolink:OntologyClass	hp	UMLS:C4025039		http://purl.obolibrary.org/obo/HP_0006490		Abnormality of the wide portion of the lower-limb bone
OBO:HP_0006491	Abnormality of the tibial metaphysis	biolink:OntologyClass	hp	UMLS:C4025038		http://purl.obolibrary.org/obo/HP_0006491		Abnormality of the wide portion of shankbone|Abnormality of the wide portion of shinbone
OBO:HP_0006492	Aplasia/Hypoplasia of the fibula	biolink:OntologyClass	hp	UMLS:C1856732	Absence or underdevelopment of the fibula.	http://purl.obolibrary.org/obo/HP_0006492		Absent/small calf bone|Absent/underdeveloped calf bone|Fibular aplasia/hypoplasia|Hypoplastic/aplastic fibulae
OBO:HP_0006493	Aplasia/hypoplasia involving bones of the lower limbs	biolink:OntologyClass	hp	UMLS:C4025037	Absence (due to failure to form) or underdevelopment of the bones of the lower limbs.	http://purl.obolibrary.org/obo/HP_0006493		Absent/small lower limb bones|Absent/underdeveloped lower limb bones
OBO:HP_0006494	Aplasia/Hypoplasia involving bones of the feet	biolink:OntologyClass	hp	UMLS:C4025036		http://purl.obolibrary.org/obo/HP_0006494		Absent/small foot bones|Absent/underdeveloped foot bones
OBO:HP_0006495	Aplasia/Hypoplasia of the ulna	biolink:OntologyClass	hp	UMLS:C1865571	Absence or underdevelopment of the ulna.	http://purl.obolibrary.org/obo/HP_0006495		Absence/underdevelopment of inner forearm bone|Absent-hypoplastic ulnae|Absent/small ulna|Hypoplasia or unilateral/bilateral absence of ulna|ulnar hypoplasia/aplasia
OBO:HP_0006496	Aplasia/hypoplasia involving bones of the upper limbs	biolink:OntologyClass	hp	UMLS:C4025035	Absence (due to failure to form) or underdevelopment of the bones of the upper limbs.	http://purl.obolibrary.org/obo/HP_0006496		Absent/small bones of the upper limbs|Absent/underdeveloped bones of the upper limbs
OBO:HP_0006498	Aplasia/Hypoplasia of the patella	biolink:OntologyClass	hp	MSH:C535568|UMLS:C1868577	Absence or underdevelopment of the patella.	http://purl.obolibrary.org/obo/HP_0006498		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
OBO:HP_0006499	Abnormality of femoral epiphysis	biolink:OntologyClass	hp	UMLS:C4025034	An anomaly of a growth plate of a femur.	http://purl.obolibrary.org/obo/HP_0006499		Abnormality of thighbone end part
OBO:HP_0006500	Abnormality of lower limb epiphysis morphology	biolink:OntologyClass	hp	UMLS:C4021595	An anomaly of one or more epiphyses of one or both legs.	http://purl.obolibrary.org/obo/HP_0006500		Abnormal shape of end part of lower limb end bone|Abnormality involving the epiphyses of the lower limbs
OBO:HP_0006501	Aplasia/Hypoplasia of the radius	biolink:OntologyClass	hp	UMLS:C2749463	A small/hypoplastic or absent/aplastic radius.	http://purl.obolibrary.org/obo/HP_0006501		Absence or underdevelopment of the radius bone of the arm|Absent/small radius|Absent/underdeveloped radius|Radial aplasia/hypoplasia
OBO:HP_0006502	Aplasia/Hypoplasia involving the carpal bones	biolink:OntologyClass	hp	UMLS:C4025033	Absence or underdevelopment of the carpal bones.	http://purl.obolibrary.org/obo/HP_0006502		Absent/small wrist bones|Absent/underdeveloped wrist bones
OBO:HP_0006503	Aplasia/hypoplasia involving forearm bones	biolink:OntologyClass	hp	UMLS:C4025032	Absence (due to failure to form) or underdevelopment of one or more forearm bones.	http://purl.obolibrary.org/obo/HP_0006503		Absent/small forearm bones|Absent/underdeveloped forearm bones
OBO:HP_0006504	obsolete Anomaly of the limb diaphyses morphology	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0006504		Abnormality of shaft of long bone of the limbs
OBO:HP_0006505	Abnormality of limb epiphysis morphology	biolink:OntologyClass	hp	UMLS:C4021593	An anomaly of one or more epiphyses of a limb.	http://purl.obolibrary.org/obo/HP_0006505		Abnormal shape of end part of limb bones|Abnormality involving the epiphyses of the limbs
OBO:HP_0006507	Aplasia/hypoplasia of the humerus	biolink:OntologyClass	hp	UMLS:C4025031	Absence (due to failure to form) or underdevelopment of the humerus.	http://purl.obolibrary.org/obo/HP_0006507		Absent/small long bone in upper arm|Absent/underdeveloped long bone in upper arm
OBO:HP_0006508	Abnormality of tibial epiphyses	biolink:OntologyClass	hp	UMLS:C4025030		http://purl.obolibrary.org/obo/HP_0006508		Abnormality of end part of shinbone
OBO:HP_0006509	Diverticulosis of trachea	biolink:OntologyClass	hp	SNOMEDCT_US:14011008|UMLS:C0340213	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).	http://purl.obolibrary.org/obo/HP_0006509		Tracheal diverticulosis|Tracheal diverticulum|Tracheocele|Paratracheal air cyst
OBO:HP_0006510	Chronic pulmonary obstruction	biolink:OntologyClass	hp	MSH:D029424|SNOMEDCT_US:13645005|UMLS:C0024117	An anomaly that is characterized progressive airflow obstruction that is only partly reversible, inflammation in the airways, and systemic effects or comorbities.	http://purl.obolibrary.org/obo/HP_0006510		COPD|Chronic obstructive pulmonary disease
OBO:HP_0006511	Laryngeal stridor	biolink:OntologyClass	hp	MSH:D007826|SNOMEDCT_US:406444002|SNOMEDCT_US:41432000|SNOMEDCT_US:53787002|UMLS:C0023066	An abnormal high-pitched noisy sound, occurring during inhalation or exhalation caused by the incomplete obstruction in the throat.	http://purl.obolibrary.org/obo/HP_0006511		Laryngeal stidor
OBO:HP_0006514	Intraalveolar nodular calcifications	biolink:OntologyClass	hp	UMLS:C4025028		http://purl.obolibrary.org/obo/HP_0006514		
OBO:HP_0006515	Interstitial pneumonitis	biolink:OntologyClass	hp	MSH:D017563|SNOMEDCT_US:64667001|UMLS:C0206061		http://purl.obolibrary.org/obo/HP_0006515		
OBO:HP_0006516	Hypersensitivity pneumonitis	biolink:OntologyClass	hp	MSH:D000542|SNOMEDCT_US:37471005|UMLS:C0002390	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).	http://purl.obolibrary.org/obo/HP_0006516		
OBO:HP_0006517	Intraalveolar phospholipid accumulation	biolink:OntologyClass	hp	MSH:D011649|SNOMEDCT_US:10501004|UMLS:C0034050	Accumulation of amorphous PAS-positive material in the space betweem alveolar macrophages, sometimes as condensed form (oval bodies) are typically found in alveolar proteinosis.	http://purl.obolibrary.org/obo/HP_0006517		Alveolar proteinosis|Detection of PAS-positive extracellular material in broncho-alveolar lavage|Pulmonary alveolar proteinosis
OBO:HP_0006518	Pulmonary venous occlusion	biolink:OntologyClass	hp	Fyler:3002|MSH:D011668|SNOMEDCT_US:89420002|UMLS:C0034091|UMLS:C4280802	Substantial narrowing or blockage of small pulmonary veins as a result of disorganized smooth muscle hypertrophy and collagen matrix deposition.	http://purl.obolibrary.org/obo/HP_0006518		Pulmonary venous occlusion|Pulmonary venous stenosis|Pulmonary venoocclusive disease
OBO:HP_0006519	Alveolar cell carcinoma	biolink:OntologyClass	hp	MSH:D002282|SNOMEDCT_US:112677002|SNOMEDCT_US:36310008|SNOMEDCT_US:373627005|UMLS:C0007120	Adenocarcinoma of the Bronchus.	http://purl.obolibrary.org/obo/HP_0006519		
OBO:HP_0006520	Progressive pulmonary function impairment	biolink:OntologyClass	hp	UMLS:C1849570		http://purl.obolibrary.org/obo/HP_0006520		
OBO:HP_0006521	Pulmonary lymphangiectasia	biolink:OntologyClass	hp	UMLS:C1855480	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.	http://purl.obolibrary.org/obo/HP_0006521		Pulmonary lymphangiectasis
OBO:HP_0006522	Repeated pneumothoraces	biolink:OntologyClass	hp	UMLS:C4025027		http://purl.obolibrary.org/obo/HP_0006522		Repeated pneumothorax
OBO:HP_0006524	Tracheobronchial leiomyomatosis	biolink:OntologyClass	hp	UMLS:C3806786		http://purl.obolibrary.org/obo/HP_0006524		
OBO:HP_0006525	obsolete Lung segmentation defects	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0006525		
OBO:HP_0006527	Lymphocytic interstitial pneumonia	biolink:OntologyClass	hp	MSH:C562489|SNOMEDCT_US:44274007|UMLS:C0264511	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.	http://purl.obolibrary.org/obo/HP_0006527		Lymphocytic interstitial pneumonitis|Lymphoid interstitial pneumonia|Lymphoid interstitial pneumonitis
OBO:HP_0006528	Chronic lung disease	biolink:OntologyClass	hp	SNOMEDCT_US:413839001|UMLS:C0746102	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.	http://purl.obolibrary.org/obo/HP_0006528		Chronic lung disease
OBO:HP_0006529	Abnormal pulmonary lymphatics	biolink:OntologyClass	hp	UMLS:C4025026	An abnormality of the pulmonary lymphatic chain.	http://purl.obolibrary.org/obo/HP_0006529		
OBO:HP_0006530	Abnormal pulmonary Interstitial morphology	biolink:OntologyClass	hp	MSH:D017563|SNOMEDCT_US:233703007|UMLS:C0206062	Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis.	http://purl.obolibrary.org/obo/HP_0006530		Abnormality in area between air sacs in lung|Abnormal lung parenchyma morphology|Interstitial lung disease|Interstitial pulmonary disease
OBO:HP_0006531	Pleural lymphangiectasia	biolink:OntologyClass	hp	UMLS:C1856139		http://purl.obolibrary.org/obo/HP_0006531		
OBO:HP_0006532	Recurrent pneumonia	biolink:OntologyClass	hp	SNOMEDCT_US:128601007|SNOMEDCT_US:699014000|UMLS:C0694550|UMLS:C0748140|UMLS:C0876973|UMLS:C1859117	An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.	http://purl.obolibrary.org/obo/HP_0006532		Recurrent pneumonia|Multiple pulmonary infections|Pneumonia, recurrent|Pneumonia, recurrent episodes|Pulmonary infection|Pulmonary infections|Recurrent pulmonary infections|pulmonary infections, recurrent
OBO:HP_0006533	Bronchodysplasia	biolink:OntologyClass	hp	UMLS:C4025025		http://purl.obolibrary.org/obo/HP_0006533		
OBO:HP_0006535	Recurrent intrapulmonary hemorrhage	biolink:OntologyClass	hp	UMLS:C3805919	A recurrent hemorrhage occurring within the lung.	http://purl.obolibrary.org/obo/HP_0006535		Recurrent bleeding into lungs|Recurrent intrapulmonary haemorrhage|Recurrent pulmonary hemorrhage
OBO:HP_0006536	Airway obstruction	biolink:OntologyClass	hp	MSH:D008173|UMLS:C0600260	Obstruction of conducting airways of the lung.	http://purl.obolibrary.org/obo/HP_0006536		Obstructive lung disease|Pulmonary obstruction
OBO:HP_0006538	Recurrent bronchopulmonary infections	biolink:OntologyClass	hp	UMLS:C2169795	An increased susceptibility to bronchopulmonary infections as manifested by a history of recurrent bronchopulmonary infections.	http://purl.obolibrary.org/obo/HP_0006538		Recurrent infections in bronchi and lungs
OBO:HP_0006539	Bronchial cartilage hypoplasia	biolink:OntologyClass	hp	UMLS:C4025024		http://purl.obolibrary.org/obo/HP_0006539		Underdevelopment of the bronical cartilage
OBO:HP_0006541	obsolete Chronic obstructive airway disease from birth	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0006541		
OBO:HP_0006543	Cardiorespiratory arrest	biolink:OntologyClass	hp	MSH:D006323|SNOMEDCT_US:410430005|UMLS:C0600228		http://purl.obolibrary.org/obo/HP_0006543		
OBO:HP_0006544	Extrapulmonary sequestrum	biolink:OntologyClass	hp	UMLS:C4020814|UMLS:C4025023	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.	http://purl.obolibrary.org/obo/HP_0006544		Diaphragmatic sequestrum
OBO:HP_0006548	Pulmonary arteriovenous malformation	biolink:OntologyClass	hp	Fyler:2210|UMLS:C1857690	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.	http://purl.obolibrary.org/obo/HP_0006548		Pulmonary AV malformation
OBO:HP_0006549	Unilateral primary pulmonary dysgenesis	biolink:OntologyClass	hp	UMLS:C4021592		http://purl.obolibrary.org/obo/HP_0006549		Primary pulmonary dysgenesis, unilateral
OBO:HP_0006552	Fibrocystic lung disease	biolink:OntologyClass	hp	UMLS:C1397290		http://purl.obolibrary.org/obo/HP_0006552		
OBO:HP_0006554	Acute hepatic failure	biolink:OntologyClass	hp	MSH:D017114|SNOMEDCT_US:197270009|SNOMEDCT_US:235884008|UMLS:C0162557	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.	http://purl.obolibrary.org/obo/HP_0006554		Acute liver failure
OBO:HP_0006555	Diffuse hepatic steatosis	biolink:OntologyClass	hp	UMLS:C1849686	A diffuse form of hepatic steatosis.	http://purl.obolibrary.org/obo/HP_0006555		Hepatic steatosis, diffuse
OBO:HP_0006557	Polycystic liver disease	biolink:OntologyClass	hp	MSH:C536330|SNOMEDCT_US:72925005|UMLS:C0158683		http://purl.obolibrary.org/obo/HP_0006557		
OBO:HP_0006558	Decreased mitochondrial complex III activity in liver tissue	biolink:OntologyClass	hp	UMLS:C4025022	Decreased activity of complex III of the mitochondrion in the liver.	http://purl.obolibrary.org/obo/HP_0006558		
OBO:HP_0006559	Hepatic calcification	biolink:OntologyClass	hp	UMLS:C1696466	The presence of abnormal calcium deposition in the liver.	http://purl.obolibrary.org/obo/HP_0006559		Liver calcifications
OBO:HP_0006560	Biliary hyperplasia	biolink:OntologyClass	hp	UMLS:C3672440|UMLS:C3686778	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.	http://purl.obolibrary.org/obo/HP_0006560		Bile duct hyperplasia
OBO:HP_0006561	Lipid accumulation in hepatocytes	biolink:OntologyClass	hp	UMLS:C1837257		http://purl.obolibrary.org/obo/HP_0006561		
OBO:HP_0006562	Viral hepatitis	biolink:OntologyClass	hp	SNOMEDCT_US:3738000|UMLS:C0042721	Inflammation of the liver due to infection with a virus.	http://purl.obolibrary.org/obo/HP_0006562		
OBO:HP_0006563	Malformation of the hepatic ductal plate	biolink:OntologyClass	hp	UMLS:C1857519		http://purl.obolibrary.org/obo/HP_0006563		
OBO:HP_0006564	Fluctuating hepatomegaly	biolink:OntologyClass	hp	UMLS:C1835881	Intermittently increased size of the liver.	http://purl.obolibrary.org/obo/HP_0006564		
OBO:HP_0006565	Increased hepatocellular lipid droplets	biolink:OntologyClass	hp	UMLS:C4025021	An abnormal increase in the amount of intracellular lipid droplets in hepatocytes.	http://purl.obolibrary.org/obo/HP_0006565		
OBO:HP_0006566	Neonatal cholestatic liver disease	biolink:OntologyClass	hp	UMLS:C1859162		http://purl.obolibrary.org/obo/HP_0006566		
OBO:HP_0006568	Increased hepatic glycogen content	biolink:OntologyClass	hp	UMLS:C1856285	An increase in the amount of glycogen stored in hepatocytes compared to normal.	http://purl.obolibrary.org/obo/HP_0006568		Increased liver glycogen content
OBO:HP_0006571	Reduced number of intrahepatic bile ducts	biolink:OntologyClass	hp	UMLS:C1861621|UMLS:C4021591	The presence of reduced numbers of intrahepatic bile duct than normal.	http://purl.obolibrary.org/obo/HP_0006571		Hepatic ductopenia|Intrahepatic duct deficiency
OBO:HP_0006572	Subacute progressive viral hepatitis	biolink:OntologyClass	hp	UMLS:C1861901		http://purl.obolibrary.org/obo/HP_0006572		
OBO:HP_0006573	Acute hepatic steatosis	biolink:OntologyClass	hp	UMLS:C4025020	An acute form of hepatic steatosis.	http://purl.obolibrary.org/obo/HP_0006573		Acute fatty liver
OBO:HP_0006574	Hepatic arteriovenous malformation	biolink:OntologyClass	hp	SNOMEDCT_US:84150000|UMLS:C0520557		http://purl.obolibrary.org/obo/HP_0006574		Liver arteriovenous malformation
OBO:HP_0006575	Intrahepatic cholestasis with episodic jaundice	biolink:OntologyClass	hp	UMLS:C4025019		http://purl.obolibrary.org/obo/HP_0006575		
OBO:HP_0006576	Hepatic vascular malformations	biolink:OntologyClass	hp	UMLS:C1861790		http://purl.obolibrary.org/obo/HP_0006576		Liver vascular malformations
OBO:HP_0006577	Macronodular cirrhosis	biolink:OntologyClass	hp	SNOMEDCT_US:43904005|SNOMEDCT_US:86454000|UMLS:C2004456	A type of cirrhosis characterized by the presence of large regenerative nodules.	http://purl.obolibrary.org/obo/HP_0006577		
OBO:HP_0006579	Prolonged neonatal jaundice	biolink:OntologyClass	hp	MSH:D007567|SNOMEDCT_US:387712008|UMLS:C0022353|UMLS:C1859236	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.	http://purl.obolibrary.org/obo/HP_0006579		Prolonged yellowing of skin in newborn|Neonatal jaundice|Jaundice, neonatal
OBO:HP_0006580	Portal fibrosis	biolink:OntologyClass	hp	UMLS:C2677002|UMLS:C3805083	Fibroblast proliferation and fiber expansion from the portal areas to the lobule.	http://purl.obolibrary.org/obo/HP_0006580		Portal fibrosis shown on biopsy
OBO:HP_0006581	Depletion of mitochondrial DNA in liver	biolink:OntologyClass	hp	UMLS:C4025018	An abnormal reduction in the number of mitochondria in hepatocytes.	http://purl.obolibrary.org/obo/HP_0006581		
OBO:HP_0006582	Reye syndrome-like episodes	biolink:OntologyClass	hp	UMLS:C1850413	Repeated occurrences of acute noninflammatory encephalopathy and fatty degenerative liver failure.	http://purl.obolibrary.org/obo/HP_0006582		
OBO:HP_0006583	Fatal liver failure in infancy	biolink:OntologyClass	hp	UMLS:C4025017		http://purl.obolibrary.org/obo/HP_0006583		Fatal liver failure in infancy
OBO:HP_0006584	Small abnormally formed scapulae	biolink:OntologyClass	hp	UMLS:C1861226		http://purl.obolibrary.org/obo/HP_0006584		Small abnormally formed shoulder blade|Small abnormally formed scapula
OBO:HP_0006585	Congenital pseudoarthrosis of the clavicle	biolink:OntologyClass	hp	SNOMEDCT_US:249685004|SNOMEDCT_US:249690001|UMLS:C0426806|UMLS:C0426811	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.	http://purl.obolibrary.org/obo/HP_0006585		Clavicle pseudoarthrosis|Pseudoarthrosis of clavicle|Bipartite clavicle
OBO:HP_0006587	Straight clavicles	biolink:OntologyClass	hp	UMLS:C4025016	An abnormally straight configuration of the clavicle, a tubular bone which normally is doubly curved .	http://purl.obolibrary.org/obo/HP_0006587		Straight collarbone
OBO:HP_0006589	Flaring of lower rib cage	biolink:OntologyClass	hp	UMLS:C1855196		http://purl.obolibrary.org/obo/HP_0006589		Flaring of lower rib cage
OBO:HP_0006590	Premature sternal synostosis	biolink:OntologyClass	hp	UMLS:C4021590	Prematurely closed sternal sutures.	http://purl.obolibrary.org/obo/HP_0006590		Prematurely closed sternal sutures
OBO:HP_0006591	Absent glenoid fossa	biolink:OntologyClass	hp	UMLS:C4021589	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.	http://purl.obolibrary.org/obo/HP_0006591		Aplasia of the glenoid fossa
OBO:HP_0006593	Anomalous rib insertion to vertebrae	biolink:OntologyClass	hp	UMLS:C1861704		http://purl.obolibrary.org/obo/HP_0006593		
OBO:HP_0006595	Scapulohumeral synostosis	biolink:OntologyClass	hp	UMLS:C1865362	Bony fusion between the humerus and scapula, leading to an impairment in mobility of the affected shoulder joint.	http://purl.obolibrary.org/obo/HP_0006595		Fusion of shoulder blade to long bone in upper arm|Humero-scapulo synostosis|Humeroscapular synostosis|Synostosis of shoulder joint
OBO:HP_0006596	Restricted chest movement	biolink:OntologyClass	hp	UMLS:C4025015		http://purl.obolibrary.org/obo/HP_0006596		Restricted chest movement
OBO:HP_0006597	Diaphragmatic paralysis	biolink:OntologyClass	hp	MSH:D012133|SNOMEDCT_US:64228003|UMLS:C0035232	The presence of a paralyzed diaphragm.	http://purl.obolibrary.org/obo/HP_0006597		Diaphragmatic paralysis|Paralyzed diaphragm
OBO:HP_0006598	Irregular ossification at anterior rib ends	biolink:OntologyClass	hp	UMLS:C1850083		http://purl.obolibrary.org/obo/HP_0006598		
OBO:HP_0006599	Medial widening of clavicles	biolink:OntologyClass	hp	UMLS:C1866729		http://purl.obolibrary.org/obo/HP_0006599		
OBO:HP_0006600	Progressive calcification of costochondral cartilage	biolink:OntologyClass	hp	UMLS:C1968577		http://purl.obolibrary.org/obo/HP_0006600		
OBO:HP_0006603	Flared, irregular rib ends	biolink:OntologyClass	hp	UMLS:C1865833		http://purl.obolibrary.org/obo/HP_0006603		Flared, irregular rib ends
OBO:HP_0006606	Irregular chondrocostal junctions	biolink:OntologyClass	hp	UMLS:C1861199	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.	http://purl.obolibrary.org/obo/HP_0006606		Irregular costochondral margins
OBO:HP_0006607	Precocious costochondral ossification	biolink:OntologyClass	hp	UMLS:C1849049	Early ossification of the costochondral junction, which is the joint between the ribs and costal cartilage in the front of the rib cage.	http://purl.obolibrary.org/obo/HP_0006607		
OBO:HP_0006608	Midclavicular hypoplasia	biolink:OntologyClass	hp	UMLS:C1844530	Underdevelopment of the middle portion of the clavicle.	http://purl.obolibrary.org/obo/HP_0006608		Underdeveloped middle portion of the collarbone
OBO:HP_0006610	Wide intermamillary distance	biolink:OntologyClass	hp	SNOMEDCT_US:423230008|UMLS:C1827524	A larger than usual distance between the left and right nipple.	http://purl.obolibrary.org/obo/HP_0006610	hposlim_core	Wide-spaced nipples|Widely spaced nipples|Widely-spaced nipples
OBO:HP_0006611	Decreased number of sternal ossification centers	biolink:OntologyClass	hp	UMLS:C1856223	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.	http://purl.obolibrary.org/obo/HP_0006611		Decreased number of sternal ossification centres
OBO:HP_0006615	Absent in utero rib ossification	biolink:OntologyClass	hp	UMLS:C1842695	Lack of formation and mineralization of the ribs in utero.	http://purl.obolibrary.org/obo/HP_0006615		Absent rib calcification in utero
OBO:HP_0006619	Anterior rib punctate calcifications	biolink:OntologyClass	hp	UMLS:C1859120	Deposition of calcium salts in point-like foci within the anterior portion of one or more ribs.	http://purl.obolibrary.org/obo/HP_0006619		
OBO:HP_0006623	Costochondral joint sclerosis	biolink:OntologyClass	hp	UMLS:C4021588	Abnormal increase in density of the tissue at the costochondral junctions.	http://purl.obolibrary.org/obo/HP_0006623		Sclerotic costochondral joints
OBO:HP_0006625	Multifocal breast carcinoma	biolink:OntologyClass	hp	UMLS:C2986662	Breast carcinoma that is bilateral or otherwise multifocal.	http://purl.obolibrary.org/obo/HP_0006625		Multifocal breast cancer
OBO:HP_0006628	Absent sternal ossification	biolink:OntologyClass	hp	UMLS:C1857074|UMLS:C4280443	Lack of formation of mineralized bony tissue of the sternum.	http://purl.obolibrary.org/obo/HP_0006628		Absent bone maturation in sternum|Absent sternal mineralization|Lack of sternal ossification
OBO:HP_0006631	Hypoplastic distal segments of scapulae	biolink:OntologyClass	hp	UMLS:C4025014		http://purl.obolibrary.org/obo/HP_0006631		Small distal segments of the shoulder blade|Underdeveloped outermost segments of shoulder blade|Small outermost segments of shoulder blade
OBO:HP_0006633	Glenoid fossa hypoplasia	biolink:OntologyClass	hp	UMLS:C1834384	Underdevelopment of the glenoid fossa, which is the cavity in the lateral part of the scapula which articulates with the head of the humerus.	http://purl.obolibrary.org/obo/HP_0006633	hposlim_core	Glenoid hypoplasia|Hypoplastic glenoid fossa
OBO:HP_0006634	Osteosclerosis of ribs	biolink:OntologyClass	hp	UMLS:C4025013	Osteosclerosis of ribs (increased density related to increased bone mass).	http://purl.obolibrary.org/obo/HP_0006634		Increased bone density in ribs
OBO:HP_0006637	Sternal punctate calcifications	biolink:OntologyClass	hp	UMLS:C1859121		http://purl.obolibrary.org/obo/HP_0006637		
OBO:HP_0006638	Midclavicular aplasia	biolink:OntologyClass	hp	UMLS:C1844529	Developmental defect resulting in congenital absence of the middle portion of the clavicle.	http://purl.obolibrary.org/obo/HP_0006638		Missing middle part of collarbone
OBO:HP_0006640	Multiple rib fractures	biolink:OntologyClass	hp	SNOMEDCT_US:1261007|UMLS:C0272567	More than one fracture of the ribs.	http://purl.obolibrary.org/obo/HP_0006640		Multiple rib fractures
OBO:HP_0006641	Prominent floating ribs	biolink:OntologyClass	hp	UMLS:C4025012		http://purl.obolibrary.org/obo/HP_0006641		Prominent floating ribs
OBO:HP_0006642	Large sternal ossification centers	biolink:OntologyClass	hp	UMLS:C1865241		http://purl.obolibrary.org/obo/HP_0006642		Large sternal ossification centres
OBO:HP_0006643	Fused sternal ossification centers	biolink:OntologyClass	hp	UMLS:C1859376		http://purl.obolibrary.org/obo/HP_0006643		Fused sternal ossification centres
OBO:HP_0006644	Thoracic dysplasia	biolink:OntologyClass	hp	UMLS:C1406921		http://purl.obolibrary.org/obo/HP_0006644		
OBO:HP_0006645	Thin clavicles	biolink:OntologyClass	hp	SNOMEDCT_US:298764003|UMLS:C0575535	Abnormally reduced diameter (cross section) of the clavicles.	http://purl.obolibrary.org/obo/HP_0006645		Thin collarbone
OBO:HP_0006646	Costal cartilage calcification	biolink:OntologyClass	hp	UMLS:C1855608	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.	http://purl.obolibrary.org/obo/HP_0006646		Cartilaginous ossification of rib
OBO:HP_0006647	Congenital microthorax	biolink:OntologyClass	hp	UMLS:C4025011		http://purl.obolibrary.org/obo/HP_0006647		
OBO:HP_0006649	Costochondral pain	biolink:OntologyClass	hp	UMLS:C4021587	Chest wall pain in the area of the costochondral junctions.	http://purl.obolibrary.org/obo/HP_0006649		Costochondral junction pain
OBO:HP_0006650	Thickening of the lateral border of the scapula	biolink:OntologyClass	hp	UMLS:C1834383		http://purl.obolibrary.org/obo/HP_0006650		Thickening of the lateral border of the shoulder blade
OBO:HP_0006655	Rib segmentation abnormalities	biolink:OntologyClass	hp	UMLS:C1968999		http://purl.obolibrary.org/obo/HP_0006655		
OBO:HP_0006657	Hypoplasia of first ribs	biolink:OntologyClass	hp	UMLS:C1834386		http://purl.obolibrary.org/obo/HP_0006657		Small first rib|Underdeveloped first rib|Hypoplastic first rib|Hypoplastic first ribs
OBO:HP_0006659	Internally rotated shoulders	biolink:OntologyClass	hp	UMLS:C1862491		http://purl.obolibrary.org/obo/HP_0006659		Internally rotated shoulders
OBO:HP_0006660	Aplastic clavicle	biolink:OntologyClass	hp	UMLS:C1857665	Absence of the clavicles as a developmental defect.	http://purl.obolibrary.org/obo/HP_0006660	hposlim_core	Absent collarbone|Aplastic clavicles|Absent clavicles
OBO:HP_0006665	Coat hanger sign of ribs	biolink:OntologyClass	hp	UMLS:C4025010	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).	http://purl.obolibrary.org/obo/HP_0006665		Coat hanger sign of ribs
OBO:HP_0006668	Twelfth rib hypoplasia	biolink:OntologyClass	hp	UMLS:C1859361		http://purl.obolibrary.org/obo/HP_0006668		Small twelfth rib|Underdeveloped twelfth rib
OBO:HP_0006670	Impaired myocardial contractility	biolink:OntologyClass	hp	UMLS:C4025009		http://purl.obolibrary.org/obo/HP_0006670		
OBO:HP_0006671	Paroxysmal atrial tachycardia	biolink:OntologyClass	hp	SNOMEDCT_US:195069001|UMLS:C0030587		http://purl.obolibrary.org/obo/HP_0006671		
OBO:HP_0006673	Reduced systolic function	biolink:OntologyClass	hp	UMLS:C4025008		http://purl.obolibrary.org/obo/HP_0006673		
OBO:HP_0006677	Prolonged QRS complex	biolink:OntologyClass	hp	SNOMEDCT_US:991002|UMLS:C0235475	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.	http://purl.obolibrary.org/obo/HP_0006677		Prolonged QRS complex on EKG
OBO:HP_0006679	Granulomatous coronary arteritis	biolink:OntologyClass	hp	UMLS:C4025007	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.	http://purl.obolibrary.org/obo/HP_0006679		
OBO:HP_0006681	Absent atrioventricular node	biolink:OntologyClass	hp	UMLS:C4025006		http://purl.obolibrary.org/obo/HP_0006681		
OBO:HP_0006682	Ventricular extrasystoles	biolink:OntologyClass	hp	MSH:D018879|SNOMEDCT_US:17338001|SNOMEDCT_US:251175005|UMLS:C0151636	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.	http://purl.obolibrary.org/obo/HP_0006682		Extra heart beat|Missed heartbeat|Skipped heartbeat|Premature ventricular contractions
OBO:HP_0006683	Abnormal ventricular filling	biolink:OntologyClass	hp	UMLS:C4025005	An abnormality of filling of a ventricle with blood during diastole.	http://purl.obolibrary.org/obo/HP_0006683		
OBO:HP_0006684	Ventricular preexcitation with multiple accessory pathways	biolink:OntologyClass	hp	UMLS:C4025004	A form of ventricular preexcitation due to the presence of multiple accessory pathways for cardiac conduction.	http://purl.obolibrary.org/obo/HP_0006684		
OBO:HP_0006685	Endocardial fibrosis	biolink:OntologyClass	hp	MSH:D004719|SNOMEDCT_US:398716006|UMLS:C0553980	The presence of excessive connective tissue in the endocardium.	http://purl.obolibrary.org/obo/HP_0006685		Endomyocardial fibrosis
OBO:HP_0006687	Aortic tortuosity	biolink:OntologyClass	hp	UMLS:C4025003	Abnormal tortuous (i.e., twisted) form of the aorta.	http://purl.obolibrary.org/obo/HP_0006687		
OBO:HP_0006688	Paroxysmal tachycardia	biolink:OntologyClass	hp	MSH:D013614|SNOMEDCT_US:12026006|UMLS:C0039236		http://purl.obolibrary.org/obo/HP_0006688		
OBO:HP_0006689	Bacterial endocarditis	biolink:OntologyClass	hp	MSH:D004697|SNOMEDCT_US:301183007|UMLS:C0014121	A bacterial infection of the endocardium, the inner layer of the heart, which usually involves the heart valves.	http://purl.obolibrary.org/obo/HP_0006689		Infective endocarditis
OBO:HP_0006690	Myocardial calcification	biolink:OntologyClass	hp	Fyler:1889|UMLS:C1096561	Calcium deposition in the myocardium.	http://purl.obolibrary.org/obo/HP_0006690		Calcified myocardium
OBO:HP_0006691	Pulmonic valve myxoma	biolink:OntologyClass	hp	UMLS:C4025002		http://purl.obolibrary.org/obo/HP_0006691		
OBO:HP_0006692	Short chordae tendineae of the tricuspid valve	biolink:OntologyClass	hp	UMLS:C4025001	Abnormally short chordae tendineae of the tricuspid valve.	http://purl.obolibrary.org/obo/HP_0006692		
OBO:HP_0006693	Myocardial steatosis	biolink:OntologyClass	hp	UMLS:C4025000	Steatosis in the myocardium.	http://purl.obolibrary.org/obo/HP_0006693		
OBO:HP_0006694	Early progressive calcific cardiac valvular disease	biolink:OntologyClass	hp	UMLS:C4024999		http://purl.obolibrary.org/obo/HP_0006694		
OBO:HP_0006695	Atrioventricular canal defect	biolink:OntologyClass	hp	Fyler:0606|Fyler:1100|Fyler:606|MSH:C562831|MSH:D004694|SNOMEDCT_US:15459006|UMLS:C0014116|UMLS:C1389016	A defect of the atrioventricular septum of the heart.	http://purl.obolibrary.org/obo/HP_0006695		Hole in center of heart|Atrioventricular septal defect|Endocardial cushion defect
OBO:HP_0006696	Polymorphic and polytopic ventricular extrasystoles	biolink:OntologyClass	hp	UMLS:C4024998		http://purl.obolibrary.org/obo/HP_0006696		
OBO:HP_0006698	Dilatation of the ventricular cavity	biolink:OntologyClass	hp	SNOMEDCT_US:90539001|UMLS:C0392464	A localized outpouching of ventricular cavity that is generally associated with dyskinesia and paradoxical expansion during systole.	http://purl.obolibrary.org/obo/HP_0006698		Ventricular aneurysm
OBO:HP_0006699	Premature atrial contractions	biolink:OntologyClass	hp	MSH:D018880|SNOMEDCT_US:284470004|SNOMEDCT_US:287057009|SNOMEDCT_US:406461004|SNOMEDCT_US:63593006|UMLS:C0033036	A type of cardiac arrhythmia with premature atrial contractions or beats caused by signals originating from ectopic atrial sites.	http://purl.obolibrary.org/obo/HP_0006699		PACs|Atrial ectopic beats|Atrial premature complex|Ectopic supraventricular rhythms|Premature supraventricular beats
OBO:HP_0006702	Coronary artery dissection	biolink:OntologyClass	hp	MSH:C565153|UMLS:C1852540	Acute occurrence of a dissection (tear within the tunica intima and entry of blood into the tunica media) of a coronary artery.	http://purl.obolibrary.org/obo/HP_0006702		
OBO:HP_0006703	Aplasia/Hypoplasia of the lungs	biolink:OntologyClass	hp	UMLS:C4024996		http://purl.obolibrary.org/obo/HP_0006703		Absent/small lungs|Absent/underdeveloped lungs
OBO:HP_0006704	Abnormal coronary artery morphology	biolink:OntologyClass	hp	Fyler:3100|SNOMEDCT_US:28574005|UMLS:C0158623	Any structural abnormality of the coronary arteries.	http://purl.obolibrary.org/obo/HP_0006704		
OBO:HP_0006705	Abnormal atrioventricular valve morphology	biolink:OntologyClass	hp	UMLS:C4024995	An abnormality of an atrioventricular valve.	http://purl.obolibrary.org/obo/HP_0006705		Abnormality of the atrioventricular valves
OBO:HP_0006706	Cystic liver disease	biolink:OntologyClass	hp	MSH:C536330|SNOMEDCT_US:72925005|UMLS:C0158683		http://purl.obolibrary.org/obo/HP_0006706		
OBO:HP_0006707	Abnormality of the hepatic vasculature	biolink:OntologyClass	hp	UMLS:C4024994	An abnormality of the hepatic vasculature.	http://purl.obolibrary.org/obo/HP_0006707		Abnormality of liver blood vessels|Abnormality of the liver vasculature
OBO:HP_0006709	Aplasia/Hypoplasia of the nipples	biolink:OntologyClass	hp	UMLS:C3150086		http://purl.obolibrary.org/obo/HP_0006709		Absent/small nipples|Absent/underdeveloped nipples|Absent/rudimentary nipples|Nipples absent or rudimentary
OBO:HP_0006710	Aplasia/Hypoplasia of the clavicles	biolink:OntologyClass	hp	UMLS:C4024993	Absence or underdevelopment of the clavicles (collar bones).	http://purl.obolibrary.org/obo/HP_0006710		Absent/small collarbone|Absent/underdeveloped collarbone
OBO:HP_0006711	Aplasia/Hypoplasia involving bones of the thorax	biolink:OntologyClass	hp	UMLS:C4024992		http://purl.obolibrary.org/obo/HP_0006711		Absent/small outermost thorax bone|Absent/underdeveloped thorax bone
OBO:HP_0006712	Aplasia/Hypoplasia of the ribs	biolink:OntologyClass	hp	UMLS:C1847363		http://purl.obolibrary.org/obo/HP_0006712		Absent/small ribs|Absent/underdeveloped ribs|Hypoplastic or missing ribs
OBO:HP_0006713	Aplasia/Hypoplasia of the scapulae	biolink:OntologyClass	hp	UMLS:C4024991		http://purl.obolibrary.org/obo/HP_0006713		Absent/small shoulder blade|Absent/underdeveloped shoulder blade
OBO:HP_0006714	Aplasia/Hypoplasia of the sternum	biolink:OntologyClass	hp	UMLS:C4024990		http://purl.obolibrary.org/obo/HP_0006714		Absent/small sternum|Absent/underdeveloped sternum
OBO:HP_0006715	Glomus tympanicum paraganglioma	biolink:OntologyClass	hp	UMLS:C1866555		http://purl.obolibrary.org/obo/HP_0006715		Tympanic nerve tumor|Tympanic nerve tumors
OBO:HP_0006716	Hereditary nonpolyposis colorectal carcinoma	biolink:OntologyClass	hp	UMLS:C4024989		http://purl.obolibrary.org/obo/HP_0006716		
OBO:HP_0006717	Peripheral neuroepithelioma	biolink:OntologyClass	hp	SNOMEDCT_US:254764001|UMLS:C3489398		http://purl.obolibrary.org/obo/HP_0006717		
OBO:HP_0006719	Benign gastrointestinal tract tumors	biolink:OntologyClass	hp	SNOMEDCT_US:92118007|UMLS:C0497538		http://purl.obolibrary.org/obo/HP_0006719		Benign GI tract tumors|Non-cancerous GI tumors|Benign gastrointestinal tract tumours
OBO:HP_0006721	Acute lymphoblastic leukemia	biolink:OntologyClass	hp	SNOMEDCT_US:128822004|SNOMEDCT_US:91857003|UMLS:C0023449	A form of acute leukemia characterized by excess lympoblasts.	http://purl.obolibrary.org/obo/HP_0006721		Acute lymphoblastic leukaemia|Acute lymphatic leukemia|Acute lymphocytic leukemia|Acute lymphoid leukemia
OBO:HP_0006722	Small intestine carcinoid	biolink:OntologyClass	hp	UMLS:C1868072		http://purl.obolibrary.org/obo/HP_0006722		
OBO:HP_0006723	Intestinal carcinoid	biolink:OntologyClass	hp	UMLS:C4024988		http://purl.obolibrary.org/obo/HP_0006723		
OBO:HP_0006725	Pancreatic adenocarcinoma	biolink:OntologyClass	hp	NCIT:C2852|SNOMEDCT_US:700423003|UMLS:C0281361	The presence of an adenocarcinoma of the pancreas.	http://purl.obolibrary.org/obo/HP_0006725		
OBO:HP_0006727	T-cell acute lymphoblastic leukemias	biolink:OntologyClass	hp	MSH:D054218|SNOMEDCT_US:128824003|SNOMEDCT_US:277575008|UMLS:C1961099	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.	http://purl.obolibrary.org/obo/HP_0006727		
OBO:HP_0006729	Retroperitoneal chemodectomas	biolink:OntologyClass	hp	NCIT:C3308|UMLS:C4024987		http://purl.obolibrary.org/obo/HP_0006729		
OBO:HP_0006731	Follicular thyroid carcinoma	biolink:OntologyClass	hp	MSH:D018263|NCIT:C8054|SNOMEDCT_US:255028004|SNOMEDCT_US:28173006|SNOMEDCT_US:5257006|UMLS:C0206682	The presence of an follicular adenocarcinoma of the thyroid gland.	http://purl.obolibrary.org/obo/HP_0006731		
OBO:HP_0006732	Papillary renal cell carcinoma type 2	biolink:OntologyClass	hp	UMLS:C1336840	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.	http://purl.obolibrary.org/obo/HP_0006732		
OBO:HP_0006733	Acute megakaryocytic leukemia	biolink:OntologyClass	hp	MSH:D015470|SNOMEDCT_US:17788007|SNOMEDCT_US:413443009|SNOMEDCT_US:91861009|UMLS:C0023467	A rare subtype of acute myeloid leukemia evolving from primitive megakaryoblasts.	http://purl.obolibrary.org/obo/HP_0006733		AMegL|Acute megakaryocytic leukaemia
OBO:HP_0006735	Renal cortical adenoma	biolink:OntologyClass	hp	NCIT:C2855|SNOMEDCT_US:254919009|UMLS:C0346253	The presence of an adenoma in the cortex of the kidney.	http://purl.obolibrary.org/obo/HP_0006735		Kidney cortical adenoma
OBO:HP_0006737	Extraadrenal pheochromocytoma	biolink:OntologyClass	hp	MSH:D010673|UMLS:C1257877	Pheochromocytoma not originating from the adrenal medulla but from another source such as from chromaffin cells in or about sympathetic ganglia.	http://purl.obolibrary.org/obo/HP_0006737		Pheochromocytoma, extraadrenal
OBO:HP_0006739	Squamous cell carcinoma of the skin	biolink:OntologyClass	hp	SNOMEDCT_US:254651007|UMLS:C0553723	Squamous cell carcinoma of the skin is a malignant tumor of squamous epithelium.	http://purl.obolibrary.org/obo/HP_0006739		Squamous skin carcinoma
OBO:HP_0006740	Transitional cell carcinoma of the bladder	biolink:OntologyClass	hp	NCIT:C2930|SNOMEDCT_US:255109008|UMLS:C0279680	The presence of a carcinoma of the urinary bladder with origin in a transitional epithelial cell.	http://purl.obolibrary.org/obo/HP_0006740		Transitional cell bladder carcinoma
OBO:HP_0006742	Congenital neuroblastoma	biolink:OntologyClass	hp	UMLS:C4024986		http://purl.obolibrary.org/obo/HP_0006742		
OBO:HP_0006743	Embryonal rhabdomyosarcoma	biolink:OntologyClass	hp	MSH:D018233|NCIT:C8971|SNOMEDCT_US:14269005|SNOMEDCT_US:404051002|UMLS:C0206656		http://purl.obolibrary.org/obo/HP_0006743		
OBO:HP_0006744	Adrenocortical carcinoma	biolink:OntologyClass	hp	MSH:D018268|NCIT:C2916|SNOMEDCT_US:2227007|SNOMEDCT_US:255035007|UMLS:C0206686	A malignant neoplasm of the adrenal cortex that may produce hormones such as cortisol, aldosterone, estrogen, or testosterone.	http://purl.obolibrary.org/obo/HP_0006744		Adrenal carcinoma|Adrenal gland carinoma
OBO:HP_0006747	Ganglioneuroblastoma	biolink:OntologyClass	hp	MSH:D018305|SNOMEDCT_US:116381000119105|SNOMEDCT_US:69515008|UMLS:C0206718		http://purl.obolibrary.org/obo/HP_0006747		
OBO:HP_0006748	Adrenal pheochromocytoma	biolink:OntologyClass	hp	MSH:D010673|NCIT:C3326|SNOMEDCT_US:302835009|SNOMEDCT_US:399343007|SNOMEDCT_US:85583005|UMLS:C0031511	Pheochromocytoma originating from the adrenal medulla.	http://purl.obolibrary.org/obo/HP_0006748		Pheochromocytoma, adrenal|Pheochromocytomas, adrenal
OBO:HP_0006749	Malignant gastrointestinal tract tumors	biolink:OntologyClass	hp	MSH:D005770|SNOMEDCT_US:428905002|UMLS:C0685938		http://purl.obolibrary.org/obo/HP_0006749		Malignant GI tract tumors|Malignant gastrointestinal tract tumours
OBO:HP_0006751	Paraspinal neurofibromas	biolink:OntologyClass	hp	UMLS:C4024985		http://purl.obolibrary.org/obo/HP_0006751		
OBO:HP_0006753	Neoplasm of the stomach	biolink:OntologyClass	hp	MSH:D013274|NCIT:C3262|SNOMEDCT_US:126824007|UMLS:C0038356|UMLS:C4020813	A tumor (abnormal growth of tissue) of the stomach.	http://purl.obolibrary.org/obo/HP_0006753		Stomach tumor|Neoplasia of the stomach
OBO:HP_0006755	Cutaneous leiomyosarcoma	biolink:OntologyClass	hp	NCIT:C3158|SNOMEDCT_US:254771006|UMLS:C0346067	The presence of leiomyosarcoma of the skin.	http://purl.obolibrary.org/obo/HP_0006755		
OBO:HP_0006756	Diffuse leiomyomatosis	biolink:OntologyClass	hp	UMLS:C4024984		http://purl.obolibrary.org/obo/HP_0006756		
OBO:HP_0006758	Malignant genitourinary tract tumor	biolink:OntologyClass	hp	UMLS:C1834728	The presence of a malignant neoplasm of the genital system.	http://purl.obolibrary.org/obo/HP_0006758		Malignant GU tract tumor|Malignant genitourinary tract tumour
OBO:HP_0006762	Renal pelvic carcinoma	biolink:OntologyClass	hp	NCIT:C2916|UMLS:C4024983	The presence of a carcinoma in the renal pelvis.	http://purl.obolibrary.org/obo/HP_0006762		
OBO:HP_0006763	Anal canal squamous carcinoma	biolink:OntologyClass	hp	UMLS:C4024982		http://purl.obolibrary.org/obo/HP_0006763		
OBO:HP_0006765	Chondrosarcoma	biolink:OntologyClass	hp	MSH:D002813|NCIT:C2946|SNOMEDCT_US:14990007|SNOMEDCT_US:443520009|UMLS:C0008479	A slowly growing malignant neoplasm derived from cartilage cells.	http://purl.obolibrary.org/obo/HP_0006765		
OBO:HP_0006766	Papillary renal cell carcinoma	biolink:OntologyClass	hp	MSH:D002292|NCIT:C2916|UMLS:C1306837	The presence of renal cell carcinoma in the renal papilla.	http://purl.obolibrary.org/obo/HP_0006766		
OBO:HP_0006767	Pituitary prolactin cell adenoma	biolink:OntologyClass	hp	MSH:D015175|SNOMEDCT_US:134209002|SNOMEDCT_US:34337008|UMLS:C0033375	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.	http://purl.obolibrary.org/obo/HP_0006767		Pituitary prolactinoma|Prolactin-secreting pituitary adenoma
OBO:HP_0006768	Localized neuroblastoma	biolink:OntologyClass	hp	UMLS:C4024981		http://purl.obolibrary.org/obo/HP_0006768		Localised neuroblastoma
OBO:HP_0006769	Myxoid subcutaneous tumors	biolink:OntologyClass	hp	UMLS:C1834421		http://purl.obolibrary.org/obo/HP_0006769		Myxoid subcutaneous tumours
OBO:HP_0006770	Clear cell renal cell carcinoma	biolink:OntologyClass	hp	MSH:D002292|SNOMEDCT_US:188251003|SNOMEDCT_US:254915003|SNOMEDCT_US:41607009|UMLS:C0279702	A subtype of renal cell carcinoma thought to originate from mature renal tubular cells in the proximal tubule of the nehpron.	http://purl.obolibrary.org/obo/HP_0006770		Nonpapillary renal cell carcinoma
OBO:HP_0006771	Duodenal adenocarcinoma	biolink:OntologyClass	hp	MSH:D004379|NCIT:C2852|SNOMEDCT_US:254570009|SNOMEDCT_US:408644002|UMLS:C0278804|UMLS:C0541912	A malignant epithelial tumor with a glandular organization that originates in the duodenum.	http://purl.obolibrary.org/obo/HP_0006771		Duodenal cancer
OBO:HP_0006772	Renal angiomyolipoma	biolink:OntologyClass	hp	NCIT:C3734|SNOMEDCT_US:254921004|UMLS:C0241961	A benign renal neoplasm composed of fat, vascular, and smooth muscle elements.	http://purl.obolibrary.org/obo/HP_0006772		Angiomyolipoma|Kidney angiomyolipoma
OBO:HP_0006773	Cutaneous angiolipomas	biolink:OntologyClass	hp	NCIT:C3733|UMLS:C4024980		http://purl.obolibrary.org/obo/HP_0006773		
OBO:HP_0006774	Ovarian papillary adenocarcinoma	biolink:OntologyClass	hp	NCIT:C2853|UMLS:C4024979	The presence of a papillary adenocarcinoma of the ovary.	http://purl.obolibrary.org/obo/HP_0006774		
OBO:HP_0006775	Multiple myeloma	biolink:OntologyClass	hp	MSH:D009101|MSH:D010954|SNOMEDCT_US:10639003|SNOMEDCT_US:109989006|SNOMEDCT_US:415112005|SNOMEDCT_US:55921005|UMLS:C0026764|UMLS:C0032131	A malignant plasma cell tumor growing within soft tissue or within the skeleton.	http://purl.obolibrary.org/obo/HP_0006775		Kahler's disease|Plasmocytoma
OBO:HP_0006778	Benign genitourinary tract neoplasm	biolink:OntologyClass	hp	UMLS:C3804991	A non-malignant neoplasm of the genitourinary system.	http://purl.obolibrary.org/obo/HP_0006778		Benign GU tract neoplasm|Benign genitourinary tract tumor
OBO:HP_0006779	Alveolar rhabdomyosarcoma	biolink:OntologyClass	hp	MSH:D018232|NCIT:C3749|SNOMEDCT_US:404053004|SNOMEDCT_US:63449009|UMLS:C0206655		http://purl.obolibrary.org/obo/HP_0006779		
OBO:HP_0006780	Parathyroid carcinoma	biolink:OntologyClass	hp	MSH:D010282|NCIT:C2916|SNOMEDCT_US:255037004|SNOMEDCT_US:363481002|UMLS:C0687150	A malignancy of the parathyroid glands. Parathyroid carcinoma usually secretes parathyroid hormone, leading to hyperparathyroidism.	http://purl.obolibrary.org/obo/HP_0006780		Parathyroid Cancer
OBO:HP_0006781	Hurthle cell thyroid adenoma	biolink:OntologyClass	hp	UMLS:C1336750	A kind of thyroid adenoma characterized by the presence of oxyphil cells.	http://purl.obolibrary.org/obo/HP_0006781		
OBO:HP_0006782	Malignant eosinophil proliferation	biolink:OntologyClass	hp	MSH:C565054|UMLS:C1851585		http://purl.obolibrary.org/obo/HP_0006782		
OBO:HP_0006783	Posterior pharyngeal cleft	biolink:OntologyClass	hp	UMLS:C1848389		http://purl.obolibrary.org/obo/HP_0006783		
OBO:HP_0006784	Paranasal sinus hypoplasia	biolink:OntologyClass	hp	UMLS:C2749161|UMLS:C4280256|UMLS:C4280441|UMLS:C4280442	Underdevelopment of the paranasal sinuses.	http://purl.obolibrary.org/obo/HP_0006784		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
OBO:HP_0006785	Limb-girdle muscular dystrophy	biolink:OntologyClass	hp	MSH:D049288|SNOMEDCT_US:93153005|UMLS:C0686353	Muscular dystrophy affecting the muscles of the limb girdle (the hips and shoulders).	http://purl.obolibrary.org/obo/HP_0006785		limb girdle muscular dystrophy
OBO:HP_0006789	Mitochondrial encephalopathy	biolink:OntologyClass	hp	MSH:C538525|UMLS:C1852373		http://purl.obolibrary.org/obo/HP_0006789		
OBO:HP_0006790	Cerebral cortex with spongiform changes	biolink:OntologyClass	hp	UMLS:C1857934		http://purl.obolibrary.org/obo/HP_0006790		
OBO:HP_0006794	Loss of ability to walk in first decade	biolink:OntologyClass	hp	UMLS:C1846133		http://purl.obolibrary.org/obo/HP_0006794		Loss of ability to walk in first decade
OBO:HP_0006799	Basal ganglia cysts	biolink:OntologyClass	hp	UMLS:C1837251		http://purl.obolibrary.org/obo/HP_0006799		Cystic lesions in the basal ganglia
OBO:HP_0006801	Hyperactive deep tendon reflexes	biolink:OntologyClass	hp	UMLS:C1846176		http://purl.obolibrary.org/obo/HP_0006801		
OBO:HP_0006802	Abnormal anterior horn cell morphology	biolink:OntologyClass	hp	MSH:D016472|SNOMEDCT_US:85672005|UMLS:C0154681|UMLS:C4020812	Any anomaly of the anterior horn cell.	http://purl.obolibrary.org/obo/HP_0006802		Abnormality of the anterior horn cell|Abnormality of the anterior horn cells|Anomaly of the anterior horn cells|Anterior horn cell disease
OBO:HP_0006803	Vivid hallucinations	biolink:OntologyClass	hp	UMLS:C4024978		http://purl.obolibrary.org/obo/HP_0006803		
OBO:HP_0006808	Cerebral hypomyelination	biolink:OntologyClass	hp	UMLS:C2677328	Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system.	http://purl.obolibrary.org/obo/HP_0006808		Hypomyelination of the brain
OBO:HP_0006812	White mater abnormalities in the posterior periventricular region	biolink:OntologyClass	hp	UMLS:C1836525		http://purl.obolibrary.org/obo/HP_0006812		
OBO:HP_0006813	Focal hemiclonic seizure	biolink:OntologyClass	hp	UMLS:C1846620	A type of focal clonic seizure characterized by sustained rhythmic jerking rapidly involves one side of the body at seizure onset.	http://purl.obolibrary.org/obo/HP_0006813		Hemiclonic seizures|Unilateral clonic seizures|Hemiclonic seizure|Unilateral clonic seizure
OBO:HP_0006817	Aplasia/Hypoplasia of the cerebellar vermis	biolink:OntologyClass	hp	UMLS:C1855676|UMLS:C3280770	Absence or underdevelopment of the vermis of cerebellum.	http://purl.obolibrary.org/obo/HP_0006817		Cerebellar vermis aplasia/hypoplasia|Hypo/aplastic vermis|Cerebellar vermis aplasia or hypoplasia
OBO:HP_0006818	4-layered lissencephaly	biolink:OntologyClass	hp	MSH:D054221|SNOMEDCT_US:253147000|UMLS:C0431375	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.	http://purl.obolibrary.org/obo/HP_0006818		Classic lissencephaly|Four-layered lissencephaly|Lissencephaly, type I|Type 1 lissencephaly|Type I lissencephaly
OBO:HP_0006821	Frontal polymicrogyria	biolink:OntologyClass	hp	UMLS:C1847356	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.	http://purl.obolibrary.org/obo/HP_0006821		Polymicrogyria, anterior to posterior gradient
OBO:HP_0006824	Cranial nerve paralysis	biolink:OntologyClass	hp	MSH:D003389|SNOMEDCT_US:73013002|UMLS:C0151311|UMLS:C4025709		http://purl.obolibrary.org/obo/HP_0006824		Cranial nerve palsies|Cranial nerve palsy|Cranial nerve paresis
OBO:HP_0006825	Pallor of dorsal columns of the spinal cord	biolink:OntologyClass	hp	UMLS:C1865416		http://purl.obolibrary.org/obo/HP_0006825		
OBO:HP_0006827	Atrophy of the spinal cord	biolink:OntologyClass	hp	UMLS:C1389102		http://purl.obolibrary.org/obo/HP_0006827		Degeneration of the spinal cord
OBO:HP_0006829	Severe muscular hypotonia	biolink:OntologyClass	hp	UMLS:C1839630	A severe degree of muscular hypotonia characterized by markedly reduced muscle tone.	http://purl.obolibrary.org/obo/HP_0006829		Severely decreased muscle tone|Hypotonia, severe
OBO:HP_0006830	obsolete Severe neonatal hypotonia in males	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0006830		
OBO:HP_0006834	Developmental stagnation at onset of seizures	biolink:OntologyClass	hp	UMLS:C1836829	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.	http://purl.obolibrary.org/obo/HP_0006834		
OBO:HP_0006837	Congenital Horner syndrome	biolink:OntologyClass	hp	MSH:C564178|UMLS:C1840475	A type of Horner syndrome with congenital onset.	http://purl.obolibrary.org/obo/HP_0006837		
OBO:HP_0006844	Absent patellar reflexes	biolink:OntologyClass	hp	SNOMEDCT_US:274817009|UMLS:C0558844	Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella.	http://purl.obolibrary.org/obo/HP_0006844		Absent knee jerk reflex
OBO:HP_0006846	Acute encephalopathy	biolink:OntologyClass	hp	SNOMEDCT_US:2776000|UMLS:C1306587		http://purl.obolibrary.org/obo/HP_0006846		
OBO:HP_0006849	Hypodysplasia of the corpus callosum	biolink:OntologyClass	hp	UMLS:C1850348		http://purl.obolibrary.org/obo/HP_0006849		
OBO:HP_0006850	Hypoplasia of the ventral pons	biolink:OntologyClass	hp	UMLS:C1843507	Underdevelopment of the ventral portion of the pons.	http://purl.obolibrary.org/obo/HP_0006850		Underdeveloped ventral pons
OBO:HP_0006851	Symmetric spinal nerve root neurofibromas	biolink:OntologyClass	hp	UMLS:C1834236	Multiple neurofibromas of the spinal nerve roots with a symmetric distribution.	http://purl.obolibrary.org/obo/HP_0006851		Spinal nerve root neurofibromas, symmetric, multiple
OBO:HP_0006852	Episodic generalized hypotonia	biolink:OntologyClass	hp	UMLS:C4024976	The occurrence of repeated episodes of generalized muscular hypotonia.	http://purl.obolibrary.org/obo/HP_0006852		Episodic generalised hypotonia
OBO:HP_0006855	Cerebellar vermis atrophy	biolink:OntologyClass	hp	UMLS:C0742028	Wasting (atrophy) of the vermis of cerebellum.	http://purl.obolibrary.org/obo/HP_0006855		Atrophy of cerebellar vermis|Atrophy of the cerebellar vermis
OBO:HP_0006858	Impaired distal proprioception	biolink:OntologyClass	hp	UMLS:C4021585	A loss or impairment of the sensation of the relative position of parts of the body and joint position occuring at distal joints.	http://purl.obolibrary.org/obo/HP_0006858		Distal sensory loss of proprioception
OBO:HP_0006859	Posterior leukoencephalopathy	biolink:OntologyClass	hp	UMLS:C4024975		http://purl.obolibrary.org/obo/HP_0006859		
OBO:HP_0006863	Severe expressive language delay	biolink:OntologyClass	hp	SNOMEDCT_US:62221000119105|UMLS:C1851085	A severe delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.	http://purl.obolibrary.org/obo/HP_0006863		
OBO:HP_0006865	Sensorimotor polyneuropathy affecting arms more than legs	biolink:OntologyClass	hp	UMLS:C4024974		http://purl.obolibrary.org/obo/HP_0006865		
OBO:HP_0006866	Midline central nervous system lipomas	biolink:OntologyClass	hp	UMLS:C4024973		http://purl.obolibrary.org/obo/HP_0006866		Midline CNS lipomas
OBO:HP_0006870	Lobar holoprosencephaly	biolink:OntologyClass	hp	MSH:D016142|SNOMEDCT_US:253136007|UMLS:C0431362	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.	http://purl.obolibrary.org/obo/HP_0006870		
OBO:HP_0006872	Cerebral hypoplasia	biolink:OntologyClass	hp	UMLS:C1855330	Underdevelopment of the cerebrum.	http://purl.obolibrary.org/obo/HP_0006872		Small cerebrum|Underdeveloped cerebrum
OBO:HP_0006873	Symmetrical progressive peripheral demyelination	biolink:OntologyClass	hp	UMLS:C4024972	A symmetric and progressive loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.	http://purl.obolibrary.org/obo/HP_0006873		
OBO:HP_0006877	obsolete Mental retardation, in some	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0006877		
OBO:HP_0006879	Pontocerebellar atrophy	biolink:OntologyClass	hp	UMLS:C1853766	Atrophy affecting the pons and the cerebellum.	http://purl.obolibrary.org/obo/HP_0006879		
OBO:HP_0006880	Cerebellar hemangioblastoma	biolink:OntologyClass	hp	NCIT:C3801|UMLS:C1332900	A hemangioblastoma of the cerebellum.	http://purl.obolibrary.org/obo/HP_0006880		Hemangioblastoma, sporadic cerebellar
OBO:HP_0006881	Diffuse peripheral demyelination	biolink:OntologyClass	hp	UMLS:C4024971	A diffuse loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.	http://purl.obolibrary.org/obo/HP_0006881		
OBO:HP_0006882	Severe hydrocephalus	biolink:OntologyClass	hp	UMLS:C3278123		http://purl.obolibrary.org/obo/HP_0006882		
OBO:HP_0006886	Impaired distal vibration sensation	biolink:OntologyClass	hp	UMLS:C1853767	A decrease in the ability to perceive vibration in the distal portions of the limbs.	http://purl.obolibrary.org/obo/HP_0006886		Decreased distal vibration sense
OBO:HP_0006887	Intellectual disability, progressive	biolink:OntologyClass	hp	UMLS:C1846149	The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time.	http://purl.obolibrary.org/obo/HP_0006887		Intellectual disability, progressive|Mental retardation, progressive|Progressive mental retardation
OBO:HP_0006888	Meningoencephalocele	biolink:OntologyClass	hp	SNOMEDCT_US:52330001|UMLS:C0266456		http://purl.obolibrary.org/obo/HP_0006888		
OBO:HP_0006889	Intellectual disability, borderline	biolink:OntologyClass	hp	SNOMEDCT_US:77287004|UMLS:C0006009	Borderline intellectual disability is defined as an intelligence quotient (IQ) in the range of 70-85.	http://purl.obolibrary.org/obo/HP_0006889		Intellectual disability, borderline|Mental retardation, borderline
OBO:HP_0006891	Thick cerebral cortex	biolink:OntologyClass	hp	UMLS:C4024970		http://purl.obolibrary.org/obo/HP_0006891		
OBO:HP_0006892	Frontotemporal cerebral atrophy	biolink:OntologyClass	hp	UMLS:C4021584	Atrophy (wasting, decrease in size of cells or tissue) affecting the frontotemporal cerebrum.	http://purl.obolibrary.org/obo/HP_0006892		Cerebral atrophy, frontotemporal
OBO:HP_0006893	Severely dysplastic cerebellum	biolink:OntologyClass	hp	UMLS:C4024969		http://purl.obolibrary.org/obo/HP_0006893		
OBO:HP_0006894	Hypoplastic olfactory lobes	biolink:OntologyClass	hp	UMLS:C1859231		http://purl.obolibrary.org/obo/HP_0006894		
OBO:HP_0006895	Lower limb hypertonia	biolink:OntologyClass	hp	UMLS:C1845245		http://purl.obolibrary.org/obo/HP_0006895		
OBO:HP_0006896	Hypnopompic hallucinations	biolink:OntologyClass	hp	MSH:D006212|SNOMEDCT_US:69690008|UMLS:C0424082		http://purl.obolibrary.org/obo/HP_0006896		
OBO:HP_0006897	Cranial nerve VI palsy	biolink:OntologyClass	hp	MSH:C564661|MSH:D020434|SNOMEDCT_US:398760006|SNOMEDCT_US:398925009|SNOMEDCT_US:398963001|UMLS:C0271355		http://purl.obolibrary.org/obo/HP_0006897		Abducens nerve palsy|Abducens nerve paralysis|Abducens nerve paresis|Lateral rectus muscle denervation paresis
OBO:HP_0006899	Fusion of the cerebellar hemispheres	biolink:OntologyClass	hp	UMLS:C1866131		http://purl.obolibrary.org/obo/HP_0006899		
OBO:HP_0006901	Impaired thermal sensitivity	biolink:OntologyClass	hp	UMLS:C4024968		http://purl.obolibrary.org/obo/HP_0006901		
OBO:HP_0006903	Congenital peripheral neuropathy	biolink:OntologyClass	hp	UMLS:C4024967		http://purl.obolibrary.org/obo/HP_0006903		
OBO:HP_0006904	Late-onset spinocerebellar degeneration	biolink:OntologyClass	hp	UMLS:C1856604		http://purl.obolibrary.org/obo/HP_0006904		
OBO:HP_0006906	Congenital intracerebral calcification	biolink:OntologyClass	hp	UMLS:C4024966	The presence of calcium deposition within brain structures that is present already at the time of birth.	http://purl.obolibrary.org/obo/HP_0006906		
OBO:HP_0006913	Frontal cortical atrophy	biolink:OntologyClass	hp	UMLS:C4024965	Atrophy of the frontal cortex.	http://purl.obolibrary.org/obo/HP_0006913		Frontal cortex degeneration
OBO:HP_0006915	Inability to walk by childhood/adolescence	biolink:OntologyClass	hp	UMLS:C1859200		http://purl.obolibrary.org/obo/HP_0006915		Inability to walk by childhood/adolescence
OBO:HP_0006916	Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material	biolink:OntologyClass	hp	UMLS:C1832339|UMLS:C4024964	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material within axons.	http://purl.obolibrary.org/obo/HP_0006916		Intraaxonal accumulation of curvilinear profiles
OBO:HP_0006918	Diffuse cerebral sclerosis	biolink:OntologyClass	hp	MSH:D002549|SNOMEDCT_US:49692006|UMLS:C0007795		http://purl.obolibrary.org/obo/HP_0006918		
OBO:HP_0006919	Abnormal aggressive, impulsive or violent behavior	biolink:OntologyClass	hp	UMLS:C4024963		http://purl.obolibrary.org/obo/HP_0006919		Aggressive/violent behavior|Abnormal aggressive, impulsive or violent behaviour
OBO:HP_0006921	Axial muscle stiffness	biolink:OntologyClass	hp	UMLS:C4024962	Stiffness (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) of the axial musculature.	http://purl.obolibrary.org/obo/HP_0006921		
OBO:HP_0006926	Metachromatic leukodystrophy variant	biolink:OntologyClass	hp	UMLS:C4024961		http://purl.obolibrary.org/obo/HP_0006926		
OBO:HP_0006927	Unilateral polymicrogyria	biolink:OntologyClass	hp	SNOMEDCT_US:715905006|UMLS:C4024960	Excessive number of small gyri (convolutions) on the surface of one side of the brain.	http://purl.obolibrary.org/obo/HP_0006927		
OBO:HP_0006929	Hypoglycemic encephalopathy	biolink:OntologyClass	hp	SNOMEDCT_US:64624009|UMLS:C0149877	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.	http://purl.obolibrary.org/obo/HP_0006929		
OBO:HP_0006930	Frontoparietal cortical dysplasia	biolink:OntologyClass	hp	UMLS:C4024959	The presence of developmental dysplasia of the cortex of frontal lobe and the cortex of parietal lobe.	http://purl.obolibrary.org/obo/HP_0006930		
OBO:HP_0006931	Lipoma of corpus callosum	biolink:OntologyClass	hp	UMLS:C1333160		http://purl.obolibrary.org/obo/HP_0006931		
OBO:HP_0006932	Transient psychotic episodes	biolink:OntologyClass	hp	UMLS:C4024958		http://purl.obolibrary.org/obo/HP_0006932		
OBO:HP_0006934	Congenital nystagmus	biolink:OntologyClass	hp	MSH:D020417|SNOMEDCT_US:64635004|UMLS:C0700501	Nystagmus dating from or present at birth.	http://purl.obolibrary.org/obo/HP_0006934		Nystagmus, congenital
OBO:HP_0006937	Impaired distal tactile sensation	biolink:OntologyClass	hp	UMLS:C4021583	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.	http://purl.obolibrary.org/obo/HP_0006937		Decreased touch sensation in extremities|Decreased distal touch sense
OBO:HP_0006938	Impaired vibration sensation at ankles	biolink:OntologyClass	hp	UMLS:C1854372	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.	http://purl.obolibrary.org/obo/HP_0006938		Decreased vibration sense at ankles|Decreased vibration sense in feet|Impaired vibration sensation at ankles
OBO:HP_0006943	Diffuse spongiform leukoencephalopathy	biolink:OntologyClass	hp	UMLS:C1858857		http://purl.obolibrary.org/obo/HP_0006943		
OBO:HP_0006944	Abolished vibration sense	biolink:OntologyClass	hp	UMLS:C1837520	A complete loss of the ability to perceive vibration.	http://purl.obolibrary.org/obo/HP_0006944		Apallesthesia
OBO:HP_0006946	Recurrent meningitis	biolink:OntologyClass	hp	UMLS:C0746495	An increased susceptibility to meningitis as manifested by a medical history of recurrent episodes of meningitis.	http://purl.obolibrary.org/obo/HP_0006946		
OBO:HP_0006949	Episodic peripheral neuropathy	biolink:OntologyClass	hp	UMLS:C1848695		http://purl.obolibrary.org/obo/HP_0006949		
OBO:HP_0006951	Retrocerebellar cyst	biolink:OntologyClass	hp	UMLS:C1845370		http://purl.obolibrary.org/obo/HP_0006951		
OBO:HP_0006955	Olivopontocerebellar hypoplasia	biolink:OntologyClass	hp	UMLS:C1859341	Hypoplasia of the cerebellum, pontine nuclei, and inferior olivary nucleus.	http://purl.obolibrary.org/obo/HP_0006955		
OBO:HP_0006956	Dilation of lateral ventricles	biolink:OntologyClass	hp	UMLS:C1856409		http://purl.obolibrary.org/obo/HP_0006956		Dilatation of lateral cerebral ventricles|Enlarged lateral ventricles|Lateral ventricle dilatation
OBO:HP_0006957	Loss of ability to walk	biolink:OntologyClass	hp	UMLS:C1849097		http://purl.obolibrary.org/obo/HP_0006957		Loss of ability to walk
OBO:HP_0006958	Abnormal auditory evoked potentials	biolink:OntologyClass	hp	SNOMEDCT_US:102971006|UMLS:C0522216	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.	http://purl.obolibrary.org/obo/HP_0006958		Abnormal brainstem auditory-evoked potentials
OBO:HP_0006959	Proximal spinal muscular atrophy	biolink:OntologyClass	hp	UMLS:C4024957	Proximal spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem.	http://purl.obolibrary.org/obo/HP_0006959		
OBO:HP_0006960	Choroid plexus calcification	biolink:OntologyClass	hp	UMLS:C1863184	The presence of calcium deposition in the choroid plexus.	http://purl.obolibrary.org/obo/HP_0006960		Calcified choroid plexus
OBO:HP_0006961	Jerky head movements	biolink:OntologyClass	hp	UMLS:C1855568		http://purl.obolibrary.org/obo/HP_0006961		Head jerking|Jerking head movements
OBO:HP_0006962	Gait instability, worse in the dark	biolink:OntologyClass	hp	UMLS:C1837016		http://purl.obolibrary.org/obo/HP_0006962		Unstable walking, worse in the dark
OBO:HP_0006964	Cerebral cortical neurodegeneration	biolink:OntologyClass	hp	UMLS:C1859863		http://purl.obolibrary.org/obo/HP_0006964		
OBO:HP_0006965	Acute necrotizing encephalopathy	biolink:OntologyClass	hp	UMLS:C1855020		http://purl.obolibrary.org/obo/HP_0006965		
OBO:HP_0006970	Periventricular leukomalacia	biolink:OntologyClass	hp	MSH:D007969|SNOMEDCT_US:230769007|UMLS:C0023529		http://purl.obolibrary.org/obo/HP_0006970		
OBO:HP_0006976	Necrotizing encephalopathy	biolink:OntologyClass	hp	UMLS:C1396481	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.	http://purl.obolibrary.org/obo/HP_0006976		
OBO:HP_0006977	Grammar-specific speech disorder	biolink:OntologyClass	hp	UMLS:C4024956		http://purl.obolibrary.org/obo/HP_0006977		Grammar-specific speech disorder
OBO:HP_0006978	Dysmyelinating leukodystrophy	biolink:OntologyClass	hp	UMLS:C3278204		http://purl.obolibrary.org/obo/HP_0006978		
OBO:HP_0006979	Sleep-wake cycle disturbance	biolink:OntologyClass	hp	UMLS:C1833362	Any abnormal alteration of an individual's circadian rhythm that affects the timing of sleeping and being awake.	http://purl.obolibrary.org/obo/HP_0006979		Sleep-wake cycle disturbance
OBO:HP_0006980	Progressive leukoencephalopathy	biolink:OntologyClass	hp	UMLS:C1855010	Leukoencephalopathy that gets more severe with time.	http://purl.obolibrary.org/obo/HP_0006980		Leukoencephalopathy, progressive
OBO:HP_0006983	Slowly progressive spastic quadriparesis	biolink:OntologyClass	hp	UMLS:C4024955		http://purl.obolibrary.org/obo/HP_0006983		
OBO:HP_0006984	Distal sensory loss of all modalities	biolink:OntologyClass	hp	UMLS:C1836527		http://purl.obolibrary.org/obo/HP_0006984		
OBO:HP_0006986	Upper limb spasticity	biolink:OntologyClass	hp	SNOMEDCT_US:394680009|UMLS:C1273957		http://purl.obolibrary.org/obo/HP_0006986		Uncontrollable movement in upper arms
OBO:HP_0006988	Alobar holoprosencephaly	biolink:OntologyClass	hp	MSH:D016142|SNOMEDCT_US:253137003|UMLS:C0431363	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.	http://purl.obolibrary.org/obo/HP_0006988		
OBO:HP_0006989	Dysplastic corpus callosum	biolink:OntologyClass	hp	UMLS:C0431369	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.	http://purl.obolibrary.org/obo/HP_0006989		Dysgenesis of corpus callosum|Dysplasia of corpus callosum
OBO:HP_0006990	Myelin-dependent gliosis	biolink:OntologyClass	hp	UMLS:C4024954	A type of gliosis that occurs in the vicinity of injured neurons.	http://purl.obolibrary.org/obo/HP_0006990		
OBO:HP_0006992	Anterior basal encephalocele	biolink:OntologyClass	hp	UMLS:C1850961		http://purl.obolibrary.org/obo/HP_0006992		
OBO:HP_0006994	Diffuse leukoencephalopathy	biolink:OntologyClass	hp	UMLS:C1868514		http://purl.obolibrary.org/obo/HP_0006994		
OBO:HP_0006999	Basal ganglia gliosis	biolink:OntologyClass	hp	UMLS:C1864114|UMLS:C2750915	Focal proliferation of glial cells in the basal ganglia.	http://purl.obolibrary.org/obo/HP_0006999		Gliosis in the basal ganglia
OBO:HP_0007000	Morning myoclonic jerks	biolink:OntologyClass	hp	UMLS:C1847164		http://purl.obolibrary.org/obo/HP_0007000		
OBO:HP_0007001	Loss of Purkinje cells in the cerebellar vermis	biolink:OntologyClass	hp	UMLS:C1849146		http://purl.obolibrary.org/obo/HP_0007001		
OBO:HP_0007002	Motor axonal neuropathy	biolink:OntologyClass	hp	UMLS:C1854570|UMLS:C2749625|UMLS:C4020811	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.	http://purl.obolibrary.org/obo/HP_0007002		Distal motor neuropathy|Length dependent motor neuropathy
OBO:HP_0007006	Dorsal column degeneration	biolink:OntologyClass	hp	UMLS:C4024953		http://purl.obolibrary.org/obo/HP_0007006		
OBO:HP_0007007	Cavitation of the basal ganglia	biolink:OntologyClass	hp	UMLS:C4024952	The formation of small cavities in the tissue of the basal ganglia.	http://purl.obolibrary.org/obo/HP_0007007		
OBO:HP_0007009	Central nervous system degeneration	biolink:OntologyClass	hp	UMLS:C3277687		http://purl.obolibrary.org/obo/HP_0007009		CNS degeneration
OBO:HP_0007010	Poor fine motor coordination	biolink:OntologyClass	hp	UMLS:C1867864	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.	http://purl.obolibrary.org/obo/HP_0007010		Fine motor disability|Fine motor impairment|Fine motor skill dysfunction|Impaired fine motor skills
OBO:HP_0007011	Fourth cranial nerve palsy	biolink:OntologyClass	hp	MSH:D020432|SNOMEDCT_US:20610004|UMLS:C0271375	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.	http://purl.obolibrary.org/obo/HP_0007011		Trochlear nerve palsy
OBO:HP_0007015	Poor gross motor coordination	biolink:OntologyClass	hp	UMLS:C1867863	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.	http://purl.obolibrary.org/obo/HP_0007015		Gross motor impairment
OBO:HP_0007016	Corticospinal tract hypoplasia	biolink:OntologyClass	hp	UMLS:C1844007		http://purl.obolibrary.org/obo/HP_0007016		
OBO:HP_0007017	Progressive forgetfulness	biolink:OntologyClass	hp	UMLS:C3277688		http://purl.obolibrary.org/obo/HP_0007017		Forgetfullness
OBO:HP_0007018	Attention deficit hyperactivity disorder	biolink:OntologyClass	hp	MSH:D001289|SNOMEDCT_US:406506008|SNOMEDCT_US:7461003|UMLS:C1263846	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.	http://purl.obolibrary.org/obo/HP_0007018		Attention deficit|Attention deficit disorder|Attention deficit-hyperactivity disorder|Attention deficits|Childhood attention deficit/hyperactivity disorder
OBO:HP_0007020	Progressive spastic paraplegia	biolink:OntologyClass	hp	UMLS:C1855483		http://purl.obolibrary.org/obo/HP_0007020		
OBO:HP_0007021	Pain insensitivity	biolink:OntologyClass	hp	SNOMEDCT_US:38433004|UMLS:C0344307	Inability to perceive painful stimuli.	http://purl.obolibrary.org/obo/HP_0007021		Absence of pain sensation
OBO:HP_0007023	Antenatal intracerebral hemorrhage	biolink:OntologyClass	hp	UMLS:C1837247	Cerebral hemorrhage that occurs before birth.	http://purl.obolibrary.org/obo/HP_0007023		Antenatal intracerebral haemorrhage
OBO:HP_0007024	Pseudobulbar paralysis	biolink:OntologyClass	hp	MSH:D020828|SNOMEDCT_US:7379000|UMLS:C0033790	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.	http://purl.obolibrary.org/obo/HP_0007024		Pseudobulbar palsy|Pseudobulbar syndrome
OBO:HP_0007027	Poorly formed metencephalon	biolink:OntologyClass	hp	UMLS:C4024951	A morphological abnormality of the metencephalon.	http://purl.obolibrary.org/obo/HP_0007027		
OBO:HP_0007029	Cerebral berry aneurysm	biolink:OntologyClass	hp	MSH:D000783|SNOMEDCT_US:54002007|UMLS:C2713497	A small, sac-like aneurysm (outpouching) of a cerebral blood vessel.	http://purl.obolibrary.org/obo/HP_0007029		Cerebral saccular aneurysm
OBO:HP_0007030	Nonprogressive encephalopathy	biolink:OntologyClass	hp	UMLS:C4024950		http://purl.obolibrary.org/obo/HP_0007030		
OBO:HP_0007033	Cerebellar dysplasia	biolink:OntologyClass	hp	UMLS:C3278322	The presence of dysplasia (abnormal growth or development) of the cerebellum. Cerebellar dysplasia is a neuroimaging finding that describes abnormalities of both the cerebellar cortex and white matter and is associated with variable neurodevelopmental outcome.	http://purl.obolibrary.org/obo/HP_0007033		
OBO:HP_0007034	Generalized hyperreflexia	biolink:OntologyClass	hp	UMLS:C4024949		http://purl.obolibrary.org/obo/HP_0007034		Generalised hyperreflexia
OBO:HP_0007035	Anterior encephalocele	biolink:OntologyClass	hp	UMLS:C4024948		http://purl.obolibrary.org/obo/HP_0007035		
OBO:HP_0007036	Hypoplasia of olfactory tract	biolink:OntologyClass	hp	UMLS:C1856655		http://purl.obolibrary.org/obo/HP_0007036		Underdeveloped olfactory tract
OBO:HP_0007039	Symmetric lesions of the basal ganglia	biolink:OntologyClass	hp	UMLS:C4024947		http://purl.obolibrary.org/obo/HP_0007039		
OBO:HP_0007041	Chronic lymphocytic meningitis	biolink:OntologyClass	hp	SNOMEDCT_US:230154004|UMLS:C0393441	Meningitis that persists for more than 4 weeks, and lymphocytes are present in the cerebrospinal fluid (CSF).	http://purl.obolibrary.org/obo/HP_0007041		
OBO:HP_0007042	Focal white matter lesions	biolink:OntologyClass	hp	UMLS:C4024946		http://purl.obolibrary.org/obo/HP_0007042		
OBO:HP_0007045	Midline brain calcifications	biolink:OntologyClass	hp	UMLS:C1855487		http://purl.obolibrary.org/obo/HP_0007045		
OBO:HP_0007047	Atrophy of the dentate nucleus	biolink:OntologyClass	hp	UMLS:C1857788	Partial or complete wasting (loss) of dentate nucleus.	http://purl.obolibrary.org/obo/HP_0007047		
OBO:HP_0007048	Large basal ganglia	biolink:OntologyClass	hp	UMLS:C1859470	Increased size of the basal ganglia.	http://purl.obolibrary.org/obo/HP_0007048		
OBO:HP_0007052	Multifocal cerebral white matter abnormalities	biolink:OntologyClass	hp	UMLS:C1833434		http://purl.obolibrary.org/obo/HP_0007052		
OBO:HP_0007054	Hyperreflexia proximally	biolink:OntologyClass	hp	UMLS:C1836012		http://purl.obolibrary.org/obo/HP_0007054		
OBO:HP_0007057	Poor hand-eye coordination	biolink:OntologyClass	hp	UMLS:C1845864		http://purl.obolibrary.org/obo/HP_0007057		
OBO:HP_0007058	Generalized cerebral atrophy/hypoplasia	biolink:OntologyClass	hp	UMLS:C4024945	Generalized atrophy or hypoplasia of the cerebrum.	http://purl.obolibrary.org/obo/HP_0007058		Generalized cerebral degeneration/underdevelopment|Generalised cerebral atrophy/hypoplasia
OBO:HP_0007063	Aplasia of the inferior half of the cerebellar vermis	biolink:OntologyClass	hp	UMLS:C1857787		http://purl.obolibrary.org/obo/HP_0007063		Absent inferior half of the cerebellar vermis
OBO:HP_0007064	Progressive language deterioration	biolink:OntologyClass	hp	UMLS:C1843793	Progressive loss of previously present language abilities.	http://purl.obolibrary.org/obo/HP_0007064		
OBO:HP_0007065	Disorganization of the anterior cerebellar vermis	biolink:OntologyClass	hp	UMLS:C1845369		http://purl.obolibrary.org/obo/HP_0007065		Disorganisation of the anterior cerebellar vermis
OBO:HP_0007066	Proximal limb muscle stiffness	biolink:OntologyClass	hp	UMLS:C1861460		http://purl.obolibrary.org/obo/HP_0007066		
OBO:HP_0007067	Distal peripheral sensory neuropathy	biolink:OntologyClass	hp	UMLS:C4021582	Peripheral sensory neuropathy affecting primarily distal sensation.	http://purl.obolibrary.org/obo/HP_0007067		Peripheral sensory neuropathy, distal
OBO:HP_0007068	Inferior vermis hypoplasia	biolink:OntologyClass	hp	UMLS:C1855350	Underdevelopment of the inferior portion of the vermis of cerebellum.	http://purl.obolibrary.org/obo/HP_0007068		Hypoplasia of inferior vermis
OBO:HP_0007069	Profound static encephalopathy	biolink:OntologyClass	hp	UMLS:C4024944		http://purl.obolibrary.org/obo/HP_0007069		
OBO:HP_0007074	Thick corpus callosum	biolink:OntologyClass	hp	UMLS:C1835194	Increased vertical dimension of the corpus callosum. This feature can be visualized by sagittal sections on magnetic resonance tomography imaging of the brain.	http://purl.obolibrary.org/obo/HP_0007074		Abnormal size of corpus callosum|Large corpus callosum
OBO:HP_0007076	Extrapyramidal muscular rigidity	biolink:OntologyClass	hp	UMLS:C1852470	Muscular rigidity (continuous contraction of muscles with constant resistance to passive movement).	http://purl.obolibrary.org/obo/HP_0007076		
OBO:HP_0007078	Decreased amplitude of sensory action potentials	biolink:OntologyClass	hp	UMLS:C4024943	A reduction in the amplitude of sensory nerve action potential. This feature is measured by nerve conduction studies.	http://purl.obolibrary.org/obo/HP_0007078		
OBO:HP_0007081	Late-onset muscular dystrophy	biolink:OntologyClass	hp	UMLS:C4024942		http://purl.obolibrary.org/obo/HP_0007081		
OBO:HP_0007082	Dilated third ventricle	biolink:OntologyClass	hp	UMLS:C4024941	An increase in size of the third ventricle.	http://purl.obolibrary.org/obo/HP_0007082		
OBO:HP_0007083	Hyperactive patellar reflex	biolink:OntologyClass	hp	UMLS:C0240116		http://purl.obolibrary.org/obo/HP_0007083		Overactive knee reflex|Brisk knee jerk|Hyperreflexia in knees
OBO:HP_0007086	Social and occupational deterioration	biolink:OntologyClass	hp	UMLS:C1866986		http://purl.obolibrary.org/obo/HP_0007086		
OBO:HP_0007087	obsolete Involuntary jerking movements	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0007087		
OBO:HP_0007089	Facial-lingual fasciculations	biolink:OntologyClass	hp	UMLS:C1862359	Fasciculations affecting the tongue muscle and the musculature of the face.	http://purl.obolibrary.org/obo/HP_0007089		
OBO:HP_0007095	Frontoparietal polymicrogyria	biolink:OntologyClass	hp	UMLS:C3279674	An excessive number of small gyri (convolutions) on the surface of the brain in the frontoparietal region.	http://purl.obolibrary.org/obo/HP_0007095		
OBO:HP_0007096	Hypoplasia of the optic tract	biolink:OntologyClass	hp	UMLS:C1856654		http://purl.obolibrary.org/obo/HP_0007096		Underdeveloped optic tract
OBO:HP_0007097	Cranial nerve motor loss	biolink:OntologyClass	hp	UMLS:C4024940		http://purl.obolibrary.org/obo/HP_0007097		
OBO:HP_0007098	Paroxysmal choreoathetosis	biolink:OntologyClass	hp	SNOMEDCT_US:49949003|UMLS:C1851936	Episodes of choreoathetosis that can occur following triggers such as quick voluntary movements.	http://purl.obolibrary.org/obo/HP_0007098		Choreoathetosis, episodic|Choreoathetosis, intermittent
OBO:HP_0007099	Arnold-Chiari type I malformation	biolink:OntologyClass	hp	MSH:D001139|SNOMEDCT_US:253185002|UMLS:C0750929	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.	http://purl.obolibrary.org/obo/HP_0007099		Arnold Chiari type I malformation|Chiari I malformation
OBO:HP_0007100	Progressive ventriculomegaly	biolink:OntologyClass	hp	UMLS:C1865119		http://purl.obolibrary.org/obo/HP_0007100		
OBO:HP_0007103	Hypointensity of cerebral white matter on MRI	biolink:OntologyClass	hp	UMLS:C4020908	A darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter.	http://purl.obolibrary.org/obo/HP_0007103		White matter hypointensities on MRI
OBO:HP_0007104	Prolonged somatosensory evoked potentials	biolink:OntologyClass	hp	UMLS:C4024939		http://purl.obolibrary.org/obo/HP_0007104		
OBO:HP_0007105	Infantile encephalopathy	biolink:OntologyClass	hp	UMLS:C1856408	Encephalopathy with onset in the infantile period.	http://purl.obolibrary.org/obo/HP_0007105		
OBO:HP_0007107	Segmental peripheral demyelination	biolink:OntologyClass	hp	UMLS:C4024938	A loss of myelin from the internode regions along myelinated nerve fibers from segments of the peripheral nervous system.	http://purl.obolibrary.org/obo/HP_0007107		
OBO:HP_0007108	Demyelinating peripheral neuropathy	biolink:OntologyClass	hp	SNOMEDCT_US:23414001|UMLS:C0270922	Demyelinating neuropathy is characterized by slow nerve conduction velocities with reduced amplitudes of sensory/motor nerve conduction and prolonged distal latencies.	http://purl.obolibrary.org/obo/HP_0007108		
OBO:HP_0007109	Periventricular cysts	biolink:OntologyClass	hp	UMLS:C1839858		http://purl.obolibrary.org/obo/HP_0007109		
OBO:HP_0007110	Central hypoventilation	biolink:OntologyClass	hp	UMLS:C3805839		http://purl.obolibrary.org/obo/HP_0007110		
OBO:HP_0007111	Chronic hepatic encephalopathy	biolink:OntologyClass	hp	UMLS:C4024937		http://purl.obolibrary.org/obo/HP_0007111		
OBO:HP_0007112	Temporal cortical atrophy	biolink:OntologyClass	hp	UMLS:C4024936	Atrophy of the temporal cortex.	http://purl.obolibrary.org/obo/HP_0007112		
OBO:HP_0007115	Orbital encephalocele	biolink:OntologyClass	hp	SNOMEDCT_US:15671007|UMLS:C0271330		http://purl.obolibrary.org/obo/HP_0007115		
OBO:HP_0007117	Corticospinal tract atrophy	biolink:OntologyClass	hp	UMLS:C1838868		http://purl.obolibrary.org/obo/HP_0007117		
OBO:HP_0007123	Subcortical dementia	biolink:OntologyClass	hp	UMLS:C4024935	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.	http://purl.obolibrary.org/obo/HP_0007123		
OBO:HP_0007126	Proximal amyotrophy	biolink:OntologyClass	hp	UMLS:C1850794	Amyotrophy (muscular atrophy) affecting the proximal musculature.	http://purl.obolibrary.org/obo/HP_0007126		Wasting of muscles near the body|Muscle atrophy, proximal|Proximal muscle atrophy|Proximal muscle wasting|Symmetric proximal muscular atrophy|Symmetrical, proximal limb muscle atrophy
OBO:HP_0007129	Cerebellar medulloblastoma	biolink:OntologyClass	hp	UMLS:C4024934		http://purl.obolibrary.org/obo/HP_0007129		
OBO:HP_0007131	Acute demyelinating polyneuropathy	biolink:OntologyClass	hp	UMLS:C4024933	Acute progressive areflexic weakness and mild sensory changes resulting from myelin breakdown and axonal degeneration.	http://purl.obolibrary.org/obo/HP_0007131		
OBO:HP_0007132	Pallidal degeneration	biolink:OntologyClass	hp	SNOMEDCT_US:230302004|UMLS:C0393577	Neurodegeneration involving the globus pallidus,a part of the basal ganglia that is involved in the regulation of voluntary movement.	http://purl.obolibrary.org/obo/HP_0007132		
OBO:HP_0007133	Progressive peripheral neuropathy	biolink:OntologyClass	hp	UMLS:C1859178		http://purl.obolibrary.org/obo/HP_0007133		Progressive polyneuropathy
OBO:HP_0007141	Sensorimotor neuropathy	biolink:OntologyClass	hp	UMLS:C1112256		http://purl.obolibrary.org/obo/HP_0007141		Nerve damage causing decreased feeling and movement|Mixed polyneuropathy|Sensorimotor peripheral neuropathy
OBO:HP_0007146	Bilateral basal ganglia lesions	biolink:OntologyClass	hp	UMLS:C4024932		http://purl.obolibrary.org/obo/HP_0007146		
OBO:HP_0007149	Distal upper limb amyotrophy	biolink:OntologyClass	hp	UMLS:C4021581	Muscular atrophy of distal arm muscles.	http://purl.obolibrary.org/obo/HP_0007149		Distal upper limb muscle atrophy
OBO:HP_0007153	Progressive extrapyramidal movement disorder	biolink:OntologyClass	hp	UMLS:C2748610		http://purl.obolibrary.org/obo/HP_0007153		
OBO:HP_0007156	Asymmetric limb muscle stiffness	biolink:OntologyClass	hp	UMLS:C4024931	Stiffness of the limbs (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) occurring in an asymmetric pattern.	http://purl.obolibrary.org/obo/HP_0007156		
OBO:HP_0007158	Progressive extrapyramidal muscular rigidity	biolink:OntologyClass	hp	UMLS:C4021580	A progressive degree of muscular rigidity (continuous contraction of muscles with constant resistance to passive movement).	http://purl.obolibrary.org/obo/HP_0007158		Progressive extrapyramidal rigidity
OBO:HP_0007159	Fluctuations in consciousness	biolink:OntologyClass	hp	UMLS:C1851959		http://purl.obolibrary.org/obo/HP_0007159		
OBO:HP_0007162	Diffuse demyelination of the cerebral white matter	biolink:OntologyClass	hp	UMLS:C4024930	A diffuse loss of myelin from nerve fibers in the central nervous system.	http://purl.obolibrary.org/obo/HP_0007162		
OBO:HP_0007163	obsolete Corticospinal tract disease in lower limbs	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0007163		
OBO:HP_0007164	Slowed slurred speech	biolink:OntologyClass	hp	UMLS:C4024929		http://purl.obolibrary.org/obo/HP_0007164		Slowed slurred speech
OBO:HP_0007165	Periventricular heterotopia	biolink:OntologyClass	hp	UMLS:C1849173	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.	http://purl.obolibrary.org/obo/HP_0007165		Periventricular gray matter heterotopia|Periventricular neuronal heterotopia|Subependymal gray matter heterotopia|Subependymal neuronal heterotopia
OBO:HP_0007166	Paroxysmal dyskinesia	biolink:OntologyClass	hp	MSH:D002819|UMLS:C0752210|UMLS:C1836174	Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks.	http://purl.obolibrary.org/obo/HP_0007166		Involuntary dystonic or choreiform movements
OBO:HP_0007178	Motor polyneuropathy	biolink:OntologyClass	hp	MSH:D009443|MSH:D011115|SNOMEDCT_US:85423005|SNOMEDCT_US:95663000|UMLS:C0235025|UMLS:C0271683		http://purl.obolibrary.org/obo/HP_0007178		Peripheral motor neuropathy
OBO:HP_0007179	Absent smooth pursuit	biolink:OntologyClass	hp	UMLS:C4024928	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.	http://purl.obolibrary.org/obo/HP_0007179		
OBO:HP_0007181	Interosseus muscle atrophy	biolink:OntologyClass	hp	UMLS:C1846829	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.	http://purl.obolibrary.org/obo/HP_0007181		Interosseous muscular atrophy
OBO:HP_0007182	Peripheral hypomyelination	biolink:OntologyClass	hp	UMLS:C4024927	Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the peripheral nervous system.	http://purl.obolibrary.org/obo/HP_0007182		
OBO:HP_0007183	Focal T2 hyperintense basal ganglia lesion	biolink:OntologyClass	hp	UMLS:C1865351|UMLS:C4024926	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.	http://purl.obolibrary.org/obo/HP_0007183		Hyperintense lesions in the basal ganglia on MRI
OBO:HP_0007185	Loss of consciousness	biolink:OntologyClass	hp	MSH:D014474|SNOMEDCT_US:418107008|SNOMEDCT_US:419045004|UMLS:C0041657		http://purl.obolibrary.org/obo/HP_0007185		Loss of consciousness|Passing out
OBO:HP_0007187	Focal lissencephaly	biolink:OntologyClass	hp	UMLS:C1855230	A congenital absence of the convolutions of the cerebral cortex and a poorly formed sylvian fissure that affects a particular part of the cortex.	http://purl.obolibrary.org/obo/HP_0007187		
OBO:HP_0007188	Congenital facial diplegia	biolink:OntologyClass	hp	MSH:C531747|UMLS:C0853240	Facial diplegia (that is, bilateral facial palsy) with congenital onset.	http://purl.obolibrary.org/obo/HP_0007188		Congenital bilateral facial palsy|Congenital bilateral facial weakness
OBO:HP_0007190	Neuronal loss in the cerebral cortex	biolink:OntologyClass	hp	UMLS:C1849485		http://purl.obolibrary.org/obo/HP_0007190		
OBO:HP_0007193	Bilateral tonic-clonic seizure on awakening	biolink:OntologyClass	hp	UMLS:C1847165	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).	http://purl.obolibrary.org/obo/HP_0007193		Morning generalized tonic-clonic seizures|Generalised tonic-clonic seizures on awakening|Generalized tonic-clonic seizures on awakening
OBO:HP_0007199	Progressive spastic paraparesis	biolink:OntologyClass	hp	UMLS:C0747251		http://purl.obolibrary.org/obo/HP_0007199		
OBO:HP_0007200	Episodic hypersomnia	biolink:OntologyClass	hp	UMLS:C4024925		http://purl.obolibrary.org/obo/HP_0007200		
OBO:HP_0007201	Cerebral artery atherosclerosis	biolink:OntologyClass	hp	UMLS:C4024924	Atherosclerosis (HP:0002621) of a cerebral artery.	http://purl.obolibrary.org/obo/HP_0007201		Plaque build-up in cerebral artery
OBO:HP_0007204	Diffuse white matter abnormalities	biolink:OntologyClass	hp	UMLS:C4024923		http://purl.obolibrary.org/obo/HP_0007204		
OBO:HP_0007206	Hemimegalencephaly	biolink:OntologyClass	hp	MSH:D065705|SNOMEDCT_US:253170008|UMLS:C0431391	Enlargement of all or parts of one cerebral hemisphere.	http://purl.obolibrary.org/obo/HP_0007206		
OBO:HP_0007207	Photosensitive tonic-clonic seizure	biolink:OntologyClass	hp	UMLS:C1846131	Generalized-onset tonic-clonic seizures that are provoked by flashing or flickering light.	http://purl.obolibrary.org/obo/HP_0007207		Photosensitive tonic-clonic seizures|Photically induced tonic-clonic seizure|Seizures, tonic-clonic, photosensitive
OBO:HP_0007208	Irregular myelin loops	biolink:OntologyClass	hp	UMLS:C4024922	Presence of irregular redundant loops of focally folded myelin in a peripheral nerve.	http://purl.obolibrary.org/obo/HP_0007208		
OBO:HP_0007209	Facial paralysis	biolink:OntologyClass	hp	MSH:D005158|SNOMEDCT_US:280816001|SNOMEDCT_US:95666008|UMLS:C0015469|UMLS:C0427055	Complete loss of ability to move facial muscles innervated by the facial nerve (i.e., the seventh cranial nerve).	http://purl.obolibrary.org/obo/HP_0007209	hposlim_core	Facial paralysis|Facial paresis
OBO:HP_0007210	Lower limb amyotrophy	biolink:OntologyClass	hp	UMLS:C4024921	Muscular atrophy affecting the lower limb.	http://purl.obolibrary.org/obo/HP_0007210		
OBO:HP_0007215	Periodic hyperkalemic paralysis	biolink:OntologyClass	hp	MSH:D020513|SNOMEDCT_US:304737009|UMLS:C0238357	Episodes of muscle weakness associated with elevated levels of potassium in the blood.	http://purl.obolibrary.org/obo/HP_0007215		Hyperkalemic periodic paralysis
OBO:HP_0007220	Demyelinating motor neuropathy	biolink:OntologyClass	hp	UMLS:C1969462	Demyelination of peripheral motor nerves.	http://purl.obolibrary.org/obo/HP_0007220		
OBO:HP_0007221	Progressive truncal ataxia	biolink:OntologyClass	hp	UMLS:C1849143		http://purl.obolibrary.org/obo/HP_0007221		
OBO:HP_0007227	Macrogyria	biolink:OntologyClass	hp	MSH:D054082|SNOMEDCT_US:23024003|UMLS:C0266483	Increased size of cerebral gyri, often associated with a moderate reduction in the number of sulci of the cerebrum.	http://purl.obolibrary.org/obo/HP_0007227		
OBO:HP_0007229	Intracerebral periventricular calcifications	biolink:OntologyClass	hp	UMLS:C1837246	The presence of calcium deposition in the cerebral white matter surrounding the cerebral ventricles.	http://purl.obolibrary.org/obo/HP_0007229		
OBO:HP_0007230	Decreased distal sensory nerve action potential	biolink:OntologyClass	hp	UMLS:C4024920	A reduction in the amplitude of sensory nerve action potential in distal nerve segments. This feature is measured by nerve conduction studies.	http://purl.obolibrary.org/obo/HP_0007230		
OBO:HP_0007232	Spinocerebellar tract disease in lower limbs	biolink:OntologyClass	hp	UMLS:C4024919		http://purl.obolibrary.org/obo/HP_0007232		
OBO:HP_0007233	Clusters of axonal regeneration	biolink:OntologyClass	hp	UMLS:C1843169	Groups of small caliber axons in peripheral nerve biospies indicative of axonal regeneration.	http://purl.obolibrary.org/obo/HP_0007233		
OBO:HP_0007236	Recurrent subcortical infarcts	biolink:OntologyClass	hp	UMLS:C4024918		http://purl.obolibrary.org/obo/HP_0007236		
OBO:HP_0007238	Nonarteriosclerotic cerebral calcification	biolink:OntologyClass	hp	UMLS:C4021579		http://purl.obolibrary.org/obo/HP_0007238		Cerebral calcification, nonarteriosclerotic
OBO:HP_0007239	Congenital encephalopathy	biolink:OntologyClass	hp	UMLS:C4024917		http://purl.obolibrary.org/obo/HP_0007239		
OBO:HP_0007240	Progressive gait ataxia	biolink:OntologyClass	hp	UMLS:C1843885	A type of gait ataxia displaying progression of clinical severity.	http://purl.obolibrary.org/obo/HP_0007240		Gait ataxia, progressive
OBO:HP_0007249	Decreased number of small peripheral myelinated nerve fibers	biolink:OntologyClass	hp	UMLS:C4024916		http://purl.obolibrary.org/obo/HP_0007249		Decreased number of small peripheral myelinated nerve fibres
OBO:HP_0007250	Recurrent external ophthalmoplegia	biolink:OntologyClass	hp	UMLS:C4024915	Alternating and recurrent weakness of the external ocular muscles.	http://purl.obolibrary.org/obo/HP_0007250		
OBO:HP_0007256	Abnormal pyramidal sign	biolink:OntologyClass	hp	SNOMEDCT_US:14648003|UMLS:C0234132	Functional neurological abnormalities related to dysfunction of the pyramidal tract.	http://purl.obolibrary.org/obo/HP_0007256		Corticospinal signs|Pyramidal signs|Pyramidal tract signs
OBO:HP_0007258	Severe demyelination of the white matter	biolink:OntologyClass	hp	UMLS:C1856001	A severe loss of myelin from nerve fibers in the central nervous system.	http://purl.obolibrary.org/obo/HP_0007258		
OBO:HP_0007260	Type II lissencephaly	biolink:OntologyClass	hp	MSH:D054222|SNOMEDCT_US:253149002|UMLS:C0431376	A form of lissencephaly characterized by an uneven cortical surface with a so called 'cobblestone' appearace. There are no distinguishable cortical layers.	http://purl.obolibrary.org/obo/HP_0007260		Cobblestone lissencephaly|Lissencephaly type II|Type 2 lissencephaly
OBO:HP_0007262	Symmetric peripheral demyelination	biolink:OntologyClass	hp	UMLS:C4024914	A symmetric loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.	http://purl.obolibrary.org/obo/HP_0007262		
OBO:HP_0007263	Spinocerebellar atrophy	biolink:OntologyClass	hp	MSH:D020754|SNOMEDCT_US:129609000|UMLS:C0087012	Atrophy affecting the cerebellum and the spinocerebellar tracts of the spinal cord.	http://purl.obolibrary.org/obo/HP_0007263		
OBO:HP_0007265	Absent mesencephalon	biolink:OntologyClass	hp	UMLS:C4024913	Agenesis of the midbrain.	http://purl.obolibrary.org/obo/HP_0007265		
OBO:HP_0007266	Cerebral dysmyelination	biolink:OntologyClass	hp	UMLS:C1854885|UMLS:C4020810	Defective structure and function of myelin sheaths of the white matter of the brain.	http://purl.obolibrary.org/obo/HP_0007266		Areas of dysmyelination on MRI|Dysmyelination of the brain|White matter dysmyelination/demyelination
OBO:HP_0007267	Chronic axonal neuropathy	biolink:OntologyClass	hp	UMLS:C4021578	An abnormality characterized by chronic impairment of the normal functioning of the axons.	http://purl.obolibrary.org/obo/HP_0007267		Chronic sural axonal neuropathy
OBO:HP_0007268	Aprosencephaly	biolink:OntologyClass	hp	MSH:D000757|SNOMEDCT_US:277922001|UMLS:C0431349		http://purl.obolibrary.org/obo/HP_0007268		
OBO:HP_0007269	Spinal muscular atrophy	biolink:OntologyClass	hp	MSH:D009134|SNOMEDCT_US:5262007|UMLS:C0026847	Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem.	http://purl.obolibrary.org/obo/HP_0007269		Spinal muscle degeneration|Spinal muscle wasting
OBO:HP_0007270	Atypical absence seizure	biolink:OntologyClass	hp	SNOMEDCT_US:23374007|UMLS:C0595948	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.	http://purl.obolibrary.org/obo/HP_0007270		Atypical absence seizures|Atypical petit mal seizures|Atypical absence
OBO:HP_0007271	Occipital myelomeningocele	biolink:OntologyClass	hp	UMLS:C4024912		http://purl.obolibrary.org/obo/HP_0007271		
OBO:HP_0007272	Progressive psychomotor deterioration	biolink:OntologyClass	hp	UMLS:C1856565		http://purl.obolibrary.org/obo/HP_0007272		Progressive mental and motor deterioration
OBO:HP_0007274	Recurrent bacterial meningitis	biolink:OntologyClass	hp	UMLS:C1845604	An increased susceptibility to bacterial meningitis as manifested by a medical history of recurrent episodes of bacterial meningitis.	http://purl.obolibrary.org/obo/HP_0007274		
OBO:HP_0007277	Paucity of anterior horn motor neurons	biolink:OntologyClass	hp	UMLS:C2673351		http://purl.obolibrary.org/obo/HP_0007277		
OBO:HP_0007280	Acute infantile spinal muscular atrophy	biolink:OntologyClass	hp	UMLS:C4024911		http://purl.obolibrary.org/obo/HP_0007280		
OBO:HP_0007281	Developmental stagnation	biolink:OntologyClass	hp	UMLS:C1848980	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.	http://purl.obolibrary.org/obo/HP_0007281		Developmental arrest
OBO:HP_0007285	Facial palsy secondary to cranial hyperostosis	biolink:OntologyClass	hp	UMLS:C1849260	Paralysis of the facial nerves on the basis of overgrowth of the cranial bones causing impingement upon the seventh cranial nerve.	http://purl.obolibrary.org/obo/HP_0007285		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
OBO:HP_0007286	Horizontal jerk nystagmus	biolink:OntologyClass	hp	UMLS:C4024910	Nystagmus consisting of horizontal to-and-fro eye movements, in which the movement in one direction is faster than in the other.	http://purl.obolibrary.org/obo/HP_0007286		
OBO:HP_0007289	Limb fasciculations	biolink:OntologyClass	hp	UMLS:C1854657	Fasciculations affecting the musculature of the arms and legs.	http://purl.obolibrary.org/obo/HP_0007289		Limb fasciculation
OBO:HP_0007291	Posterior fossa cyst	biolink:OntologyClass	hp	UMLS:C1857353	A discrete posterior fossa cerebrospinal fluid (CSF) collection that does not communicate directly with the fourth ventricle.	http://purl.obolibrary.org/obo/HP_0007291		
OBO:HP_0007293	Anterior sacral meningocele	biolink:OntologyClass	hp	UMLS:C1867776		http://purl.obolibrary.org/obo/HP_0007293		
OBO:HP_0007295	Chaotic rapid conjugate ocular movements	biolink:OntologyClass	hp	UMLS:C4024909		http://purl.obolibrary.org/obo/HP_0007295		
OBO:HP_0007299	Dysfunction of lateral corticospinal tracts	biolink:OntologyClass	hp	UMLS:C1832671		http://purl.obolibrary.org/obo/HP_0007299		
OBO:HP_0007301	Oromotor apraxia	biolink:OntologyClass	hp	UMLS:C4021845		http://purl.obolibrary.org/obo/HP_0007301		
OBO:HP_0007302	Bipolar affective disorder	biolink:OntologyClass	hp	MSH:D001714|SNOMEDCT_US:13746004|UMLS:C0005586		http://purl.obolibrary.org/obo/HP_0007302		Bipolar disorder
OBO:HP_0007305	CNS demyelination	biolink:OntologyClass	hp	UMLS:C0338474	A loss of myelin from nerve fibers in the central nervous system.	http://purl.obolibrary.org/obo/HP_0007305		Demyelination in central white matter
OBO:HP_0007307	Rapid neurologic deterioration	biolink:OntologyClass	hp	UMLS:C4024908		http://purl.obolibrary.org/obo/HP_0007307		
OBO:HP_0007308	Extrapyramidal dyskinesia	biolink:OntologyClass	hp	UMLS:C1848528		http://purl.obolibrary.org/obo/HP_0007308		
OBO:HP_0007311	Short stepped shuffling gait	biolink:OntologyClass	hp	UMLS:C3805715		http://purl.obolibrary.org/obo/HP_0007311		Short stepped shuffling walk
OBO:HP_0007313	Cerebral degeneration	biolink:OntologyClass	hp	SNOMEDCT_US:418143002|SNOMEDCT_US:52522001|UMLS:C0154671		http://purl.obolibrary.org/obo/HP_0007313		Neuroaxonal degeneration in the brain
OBO:HP_0007314	obsolete White matter neuronal heterotopia	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0007314		
OBO:HP_0007316	obsolete Involuntary writhing movements	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0007316		
OBO:HP_0007321	Deep white matter hypodensities	biolink:OntologyClass	hp	UMLS:C1856979	Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the deep cerebral white matter.	http://purl.obolibrary.org/obo/HP_0007321		Deep cerebral white matter hypodensities
OBO:HP_0007325	Generalized dystonia	biolink:OntologyClass	hp	SNOMEDCT_US:425492002|UMLS:C1848954	A type of dystonia that affects all or most of the body.	http://purl.obolibrary.org/obo/HP_0007325		Generalised dystonia
OBO:HP_0007326	Progressive choreoathetosis	biolink:OntologyClass	hp	UMLS:C1860216		http://purl.obolibrary.org/obo/HP_0007326		
OBO:HP_0007327	Mixed demyelinating and axonal polyneuropathy	biolink:OntologyClass	hp	UMLS:C4024907		http://purl.obolibrary.org/obo/HP_0007327		
OBO:HP_0007328	Impaired pain sensation	biolink:OntologyClass	hp	UMLS:C1837522	Reduced ability to perceive painful stimuli.	http://purl.obolibrary.org/obo/HP_0007328		Decreased pain sensation|Impaired pain sensation|Decreased pinprick sensation
OBO:HP_0007330	Frontal encephalocele	biolink:OntologyClass	hp	MSH:D004677|SNOMEDCT_US:253103006|UMLS:C0431289		http://purl.obolibrary.org/obo/HP_0007330		
OBO:HP_0007332	Focal hemifacial clonic seizure	biolink:OntologyClass	hp	UMLS:C4024906	Focal seizure characterized at onset by clonic movements affecting half of the face.	http://purl.obolibrary.org/obo/HP_0007332		Hemifacial seizures
OBO:HP_0007333	Hypoplasia of the frontal lobes	biolink:OntologyClass	hp	UMLS:C1849172	Underdevelopment of the frontal lobe of the cerebrum.	http://purl.obolibrary.org/obo/HP_0007333		Underdeveloped frontal lobe|Frontal lobe hypoplasia|Hypoplastic frontal lobes
OBO:HP_0007334	Bilateral tonic-clonic seizure with focal onset	biolink:OntologyClass	hp	UMLS:C0877017	A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase.	http://purl.obolibrary.org/obo/HP_0007334		Generalized tonic-clonic seizures with focal onset|Generalised tonic-clonic seizures with focal onset|'Generalised' tonic-clonic seizure with focal onset|'Generalised' tonic-clonic seizure with partial onset|'Generalized' tonic-clonic seizure with focal onset|'Generalized' tonic-clonic seizure with partial onset|Focal seizure with secondary generalisation|Focal seizure with secondary generalization|Focal to bilateral tonic-clonic seizure|Partial seizure with secondary generalisation|Partial seizure with secondary generalization|Partial seizures with secondary generalization|Secondarily generalised tonic-clonic seizure|Secondarily generalised tonic-clonic seizures|Secondarily generalized tonic-clonic seizure|Secondary generalized tonic clonic seizures|Secondary generalized tonic-clonic seizures
OBO:HP_0007335	Recurrent encephalopathy	biolink:OntologyClass	hp	UMLS:C1850719	Recurrent episodes of brain dysfunction that may be triggered by factors such as metabolic disturbances or infections.	http://purl.obolibrary.org/obo/HP_0007335		Recurrent cerebellar and extrapyramidal encephalopathy
OBO:HP_0007338	Hypermetric saccades	biolink:OntologyClass	hp	SNOMEDCT_US:246769000|UMLS:C0423083	A saccade that overshoots the target with the dynamic saccade.	http://purl.obolibrary.org/obo/HP_0007338		
OBO:HP_0007340	Lower limb muscle weakness	biolink:OntologyClass	hp	SNOMEDCT_US:249945007|UMLS:C0427068|UMLS:C1836296	Weakness of the muscles of the legs.	http://purl.obolibrary.org/obo/HP_0007340		Lower extremity weakness|Lower limb muscle weakness|Lower limb weakness|Muscle weakness in lower limbs|Leg weakness
OBO:HP_0007341	Diffuse swelling of cerebral white matter	biolink:OntologyClass	hp	UMLS:C1858855		http://purl.obolibrary.org/obo/HP_0007341		
OBO:HP_0007343	Abnormal morphology of the limbic system	biolink:OntologyClass	hp	UMLS:C1863392	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].	http://purl.obolibrary.org/obo/HP_0007343		Limbic malformation
OBO:HP_0007344	Atrophy/Degeneration involving the spinal cord	biolink:OntologyClass	hp	UMLS:C1843858		http://purl.obolibrary.org/obo/HP_0007344		Atrophic and degenerative changes in the spinal cord
OBO:HP_0007346	Subcortical white matter calcifications	biolink:OntologyClass	hp	UMLS:C1851430		http://purl.obolibrary.org/obo/HP_0007346		
OBO:HP_0007348	Hypoplasia of the pyramidal tract	biolink:OntologyClass	hp	UMLS:C1850871		http://purl.obolibrary.org/obo/HP_0007348		
OBO:HP_0007350	Hyperreflexia in upper limbs	biolink:OntologyClass	hp	UMLS:C1843175		http://purl.obolibrary.org/obo/HP_0007350		
OBO:HP_0007351	Upper limb postural tremor	biolink:OntologyClass	hp	UMLS:C1867138	A type of tremors that is triggered by holding an arm in a fixed position.	http://purl.obolibrary.org/obo/HP_0007351		Postural tremor of arms
OBO:HP_0007352	Cerebellar calcifications	biolink:OntologyClass	hp	UMLS:C1851431		http://purl.obolibrary.org/obo/HP_0007352		
OBO:HP_0007354	Amyotrophic lateral sclerosis	biolink:OntologyClass	hp	MSH:D000690|SNOMEDCT_US:86044005|UMLS:C0002736		http://purl.obolibrary.org/obo/HP_0007354		Lou Gehrig's disease
OBO:HP_0007359	Focal-onset seizure	biolink:OntologyClass	hp	MSH:D012640|SNOMEDCT_US:29753000|UMLS:C0751495	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.	http://purl.obolibrary.org/obo/HP_0007359		Seizure affecting one half of brain|Focal seizures|Focal-onset seizures|Partial seizures|Focal onset seizure|Focal seizure|Partial seizure
OBO:HP_0007360	Aplasia/Hypoplasia of the cerebellum	biolink:OntologyClass	hp	UMLS:C3279222		http://purl.obolibrary.org/obo/HP_0007360		Absent/small cerebellum|Absent/underdeveloped cerebellum|Atrophy/Degeneration affecting the cerebellum|Atrophy/Hypoplasia of the cerebellum|Cerebellar hypoplasia/atrophy
OBO:HP_0007361	Abnormality of the pons	biolink:OntologyClass	hp	UMLS:C4024905	An abnormality of the pons.	http://purl.obolibrary.org/obo/HP_0007361		
OBO:HP_0007362	Aplasia/Hypoplasia of the brainstem	biolink:OntologyClass	hp	UMLS:C4024904		http://purl.obolibrary.org/obo/HP_0007362		Absent/small brainstem|Absent/underdeveloped brainstem
OBO:HP_0007363	Aplasia/Hypoplasia of the pyramidal tract	biolink:OntologyClass	hp	UMLS:C4024903		http://purl.obolibrary.org/obo/HP_0007363		
OBO:HP_0007364	Aplasia/Hypoplasia of the cerebrum	biolink:OntologyClass	hp	UMLS:C4024902		http://purl.obolibrary.org/obo/HP_0007364		Absent/small cerebrum|Absent/underdeveloped cerebrum
OBO:HP_0007365	Aplasia/Hypoplasia involving the corticospinal tracts	biolink:OntologyClass	hp	UMLS:C4024901		http://purl.obolibrary.org/obo/HP_0007365		
OBO:HP_0007366	Atrophy/Degeneration affecting the brainstem	biolink:OntologyClass	hp	UMLS:C4024900		http://purl.obolibrary.org/obo/HP_0007366		Brainstem atrophy
OBO:HP_0007367	Atrophy/Degeneration affecting the central nervous system	biolink:OntologyClass	hp	UMLS:C4024899		http://purl.obolibrary.org/obo/HP_0007367		Atrophy/Degeneration affecting the CNS
OBO:HP_0007369	Atrophy/Degeneration affecting the cerebrum	biolink:OntologyClass	hp	UMLS:C4024898	The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain.	http://purl.obolibrary.org/obo/HP_0007369		
OBO:HP_0007370	Aplasia/Hypoplasia of the corpus callosum	biolink:OntologyClass	hp	UMLS:C1861866	Absence or underdevelopment of the corpus callosum.	http://purl.obolibrary.org/obo/HP_0007370		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
OBO:HP_0007371	Corpus callosum atrophy	biolink:OntologyClass	hp	SNOMEDCT_US:253142006|UMLS:C0431370	The presence of atrophy (wasting) of the corpus callosum.	http://purl.obolibrary.org/obo/HP_0007371		Atrophic corpus callosum|Atrophy of the corpus callosum|Atrophy/Degeneration of the corpus callosum
OBO:HP_0007372	Atrophy/Degeneration involving the corticospinal tracts	biolink:OntologyClass	hp	UMLS:C4024897		http://purl.obolibrary.org/obo/HP_0007372		
OBO:HP_0007373	Motor neuron atrophy	biolink:OntologyClass	hp	UMLS:C4024896	Wasting involving the motor neuron.	http://purl.obolibrary.org/obo/HP_0007373		Motor neuron degeneration
OBO:HP_0007374	Atrophy/Degeneration involving the caudate nucleus	biolink:OntologyClass	hp	UMLS:C4024895		http://purl.obolibrary.org/obo/HP_0007374		
OBO:HP_0007375	Abnormality of the septum pellucidum	biolink:OntologyClass	hp	UMLS:C4024894	An abnormality of the septum pellucidum, which is a thin, triangular, vertical membrane separating the lateral ventricles of the brain.	http://purl.obolibrary.org/obo/HP_0007375		
OBO:HP_0007376	Abnormality of the choroid plexus	biolink:OntologyClass	hp	UMLS:C4024893	An abnormality of the choroid plexus, which is the area in the cerebral ventricles in which cerebrospinal fluid is produced by modified ependymal cells.	http://purl.obolibrary.org/obo/HP_0007376		
OBO:HP_0007377	Abnormality of somatosensory evoked potentials	biolink:OntologyClass	hp	UMLS:C4021577	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.	http://purl.obolibrary.org/obo/HP_0007377		Abnormality of SSEPs
OBO:HP_0007378	Neoplasm of the gastrointestinal tract	biolink:OntologyClass	hp	MSH:D005770|NCIT:C3262|SNOMEDCT_US:126768004|UMLS:C0017185	A tumor (abnormal growth of tissue) of the gastrointestinal tract.	http://purl.obolibrary.org/obo/HP_0007378		Neoplasm of the GI tract|GI tract tumor|Gastrointestinal tract tumor|Gastrointestinal tract neoplasia|Gastrointestinal tract neoplasm
OBO:HP_0007379	Neoplasm of the genitourinary tract	biolink:OntologyClass	hp	MSH:D014565|NCIT:C3262|UMLS:C0042065|UMLS:C4020809	A tumor (abnormal growth of tissue) of the genitourinary system.	http://purl.obolibrary.org/obo/HP_0007379		Neoplasm of the GU tract|Genitourinary tract tumors|Genitourinary tract neoplasm|Genitourinary tract neoplasia
OBO:HP_0007380	Facial telangiectasia	biolink:OntologyClass	hp	UMLS:C0858684	Telangiectases (small dilated blood vessels) located near the surface of the skin of the face.	http://purl.obolibrary.org/obo/HP_0007380		Facial telangiectatic vessels|Telangiectasia, facial
OBO:HP_0007381	Congenital exfoliative erythroderma	biolink:OntologyClass	hp	UMLS:C4024892		http://purl.obolibrary.org/obo/HP_0007381		
OBO:HP_0007383	Congenital localized absence of skin	biolink:OntologyClass	hp	UMLS:C2673597		http://purl.obolibrary.org/obo/HP_0007383		Congenital localised absence of skin|Congenital localized skin absence
OBO:HP_0007384	Aberrant melanosome maturation	biolink:OntologyClass	hp	UMLS:C1969516		http://purl.obolibrary.org/obo/HP_0007384		
OBO:HP_0007385	Aplasia cutis congenita of scalp	biolink:OntologyClass	hp	UMLS:C1855698|UMLS:C4048801|UMLS:C4072857|UMLS:C4072858	A developmental defect resulting in the congenital absence of skin on the scalp.	http://purl.obolibrary.org/obo/HP_0007385	hposlim_core	Focal absence of scalp tissue|Defect of scalp|Scalp defect|Solitary scalp defect|Scalp aplasia cutis congenita
OBO:HP_0007387	Hypoplastic sweat glands	biolink:OntologyClass	hp	UMLS:C1832455	Underdevelopment of the sweat glands.	http://purl.obolibrary.org/obo/HP_0007387		Underdeveloped sweat glands
OBO:HP_0007390	Hyperkeratosis with erythema	biolink:OntologyClass	hp	UMLS:C4024891		http://purl.obolibrary.org/obo/HP_0007390		
OBO:HP_0007392	Excessive wrinkled skin	biolink:OntologyClass	hp	UMLS:C4024890		http://purl.obolibrary.org/obo/HP_0007392		Excessive wrinkled skin
OBO:HP_0007394	Prominent superficial blood vessels	biolink:OntologyClass	hp	UMLS:C1848771		http://purl.obolibrary.org/obo/HP_0007394		Prominent superficial blood vessels|Prominent superficial vasculature
OBO:HP_0007395	Postnatal-onset ichthyosiform erythroderma	biolink:OntologyClass	hp	UMLS:C4021576	A type of ichthyosiform erythroderma with postnatal onset.	http://purl.obolibrary.org/obo/HP_0007395		Postnatal-onset ichthyosis
OBO:HP_0007396	Early cutaneous photosensitivity	biolink:OntologyClass	hp	UMLS:C4024889	Photosensitivity of the skin occurring early in life.	http://purl.obolibrary.org/obo/HP_0007396		Sun sensitivity occurring early in life
OBO:HP_0007397	Axillary apocrine gland hypoplasia	biolink:OntologyClass	hp	UMLS:C1867003	Developmental hypoplasia of the apocrine sweat glands in the region of the axilla.	http://purl.obolibrary.org/obo/HP_0007397		
OBO:HP_0007398	Asymmetric, linear skin defects	biolink:OntologyClass	hp	UMLS:C4024888		http://purl.obolibrary.org/obo/HP_0007398		
OBO:HP_0007400	Irregular hyperpigmentation	biolink:OntologyClass	hp	UMLS:C1860236		http://purl.obolibrary.org/obo/HP_0007400		
OBO:HP_0007401	Macular atrophy	biolink:OntologyClass	hp	MSH:D057088|SNOMEDCT_US:238828009|UMLS:C1288283	Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.	http://purl.obolibrary.org/obo/HP_0007401		
OBO:HP_0007402	Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines	biolink:OntologyClass	hp	UMLS:C4024886		http://purl.obolibrary.org/obo/HP_0007402		
OBO:HP_0007403	Hypertrophy of skin of soles	biolink:OntologyClass	hp	UMLS:C1867617		http://purl.obolibrary.org/obo/HP_0007403		Thick skin of soles
OBO:HP_0007404	Nonepidermolytic palmoplantar keratoderma	biolink:OntologyClass	hp	MSH:C563422|UMLS:C1833030		http://purl.obolibrary.org/obo/HP_0007404		
OBO:HP_0007406	Hyperpigmentation of eyelids	biolink:OntologyClass	hp	MSH:C562400|SNOMEDCT_US:41115008|UMLS:C0155211|UMLS:C0854438|UMLS:C4280440		http://purl.obolibrary.org/obo/HP_0007406		Dark eyelids|Brown eyelids|Pigmentation of eyelids
OBO:HP_0007407	Excessive skin wrinkling on dorsum of hands and fingers	biolink:OntologyClass	hp	UMLS:C1837467		http://purl.obolibrary.org/obo/HP_0007407		Excessive skin wrinkling on back of hands and fingers
OBO:HP_0007408	Tegumentary leishmaniasis susceptibility	biolink:OntologyClass	hp	UMLS:C2748501	Increased susceptibility to infection by the protozan parasite of the genus Leishmania.	http://purl.obolibrary.org/obo/HP_0007408		
OBO:HP_0007409	obsolete Absence of subcutaneous fat over entire body except buttocks, hips, and thighs	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0007409		
OBO:HP_0007410	Palmoplantar hyperhidrosis	biolink:OntologyClass	hp	MSH:C563185|SNOMEDCT_US:403375001|UMLS:C1274743	An abnormally increased perspiration on palms and soles.	http://purl.obolibrary.org/obo/HP_0007410		Excessive sweating of palms and soles|Hyperhidrosis of palms and soles
OBO:HP_0007411	Hypoplastic-absent sebaceous glands	biolink:OntologyClass	hp	UMLS:C1844617		http://purl.obolibrary.org/obo/HP_0007411		
OBO:HP_0007412	Macular hyperpigmented dermopathy	biolink:OntologyClass	hp	UMLS:C4024885		http://purl.obolibrary.org/obo/HP_0007412		
OBO:HP_0007413	Nevus flammeus of the forehead	biolink:OntologyClass	hp	UMLS:C1848850	Naevus flammeus localised in the skin of the forehead.	http://purl.obolibrary.org/obo/HP_0007413		Port-wine stain on forehead
OBO:HP_0007414	Neonatal wrinkled skin of hands and feet	biolink:OntologyClass	hp	UMLS:C4024884		http://purl.obolibrary.org/obo/HP_0007414		Wrinkled skin of hands and feet in newborn
OBO:HP_0007417	Discoid lupus rash	biolink:OntologyClass	hp	MSH:D008179|SNOMEDCT_US:200938002|SNOMEDCT_US:238927000|UMLS:C0024138	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.	http://purl.obolibrary.org/obo/HP_0007417		Discoid lupus erythematosus
OBO:HP_0007418	Alopecia totalis	biolink:OntologyClass	hp	SNOMEDCT_US:19754005|UMLS:C0263504	Loss of all scalp hair.	http://purl.obolibrary.org/obo/HP_0007418		Total alopecia
OBO:HP_0007420	Spontaneous hematomas	biolink:OntologyClass	hp	UMLS:C1697453	Spontaneous development of hematomas (hematoma) or bruises without significant trauma.	http://purl.obolibrary.org/obo/HP_0007420		
OBO:HP_0007421	Telangiectases of the cheeks	biolink:OntologyClass	hp	UMLS:C3554587	Telangiectases (small dilated blood vessels) located near the surface of the skin of the cheeks.	http://purl.obolibrary.org/obo/HP_0007421		Telangiectasia on the cheeks
OBO:HP_0007425	Hyperextensible skin of face	biolink:OntologyClass	hp	UMLS:C4024883		http://purl.obolibrary.org/obo/HP_0007425		Hyperelastic face skin|Stretchable face skin
OBO:HP_0007427	Reticulated skin pigmentation	biolink:OntologyClass	hp	UMLS:C3279575|UMLS:C3279601		http://purl.obolibrary.org/obo/HP_0007427		Reticular pigmentation pattern|Reticulate skin pigmentation
OBO:HP_0007428	Telangiectasia of the oral mucosa	biolink:OntologyClass	hp	UMLS:C4024882	Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the oral mucosa.	http://purl.obolibrary.org/obo/HP_0007428		Spider veins of the oral mucosa|Angioectasia of the oral mucosa|Angioectasia of the oral mucous membrane|Telangiectasia of the oral mucous membrane
OBO:HP_0007429	Few cafe-au-lait spots	biolink:OntologyClass	hp	UMLS:C4024881	The presence of two to five cafe-au-lait macules.	http://purl.obolibrary.org/obo/HP_0007429		
OBO:HP_0007430	Generalized edema	biolink:OntologyClass	hp	SNOMEDCT_US:271808008|UMLS:C1850534	Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.	http://purl.obolibrary.org/obo/HP_0007430		Generalised oedema|Generalized tissue edema
OBO:HP_0007431	Congenital ichthyosiform erythroderma	biolink:OntologyClass	hp	MSH:D016113|SNOMEDCT_US:254156001|SNOMEDCT_US:268282005|UMLS:C0079583	An ichthyosiform abnormality of the skin with congenital onset.	http://purl.obolibrary.org/obo/HP_0007431		Congenital ichthyosis|Ichthyosis, congenital
OBO:HP_0007432	Intermittent generalized erythematous papular rash	biolink:OntologyClass	hp	UMLS:C2749995		http://purl.obolibrary.org/obo/HP_0007432		Intermittent generalised erythematous papular rash
OBO:HP_0007434	Plaque-like facial hemangioma	biolink:OntologyClass	hp	UMLS:C1847884	Hemangioma is a benign tumor of the vascular endothelial cells. This term refers to facial hemangiomas that have a plaque-like morphology.	http://purl.obolibrary.org/obo/HP_0007434		Hemangioma, facial, plaque-like
OBO:HP_0007435	Diffuse palmoplantar keratoderma	biolink:OntologyClass	hp	MSH:D015776|SNOMEDCT_US:400123002|UMLS:C0022584		http://purl.obolibrary.org/obo/HP_0007435		
OBO:HP_0007436	Hair-nail ectodermal dysplasia	biolink:OntologyClass	hp	UMLS:C4024880		http://purl.obolibrary.org/obo/HP_0007436		
OBO:HP_0007437	Multiple cutaneous leiomyomas	biolink:OntologyClass	hp	MSH:C535516|NCIT:C3157|UMLS:C1708350	The presence of multiple leiomyomas of the skin.	http://purl.obolibrary.org/obo/HP_0007437		
OBO:HP_0007438	Mottled pigmentation of the trunk and proximal extremities	biolink:OntologyClass	hp	UMLS:C1851551		http://purl.obolibrary.org/obo/HP_0007438		
OBO:HP_0007439	Generalized keratosis follicularis	biolink:OntologyClass	hp	UMLS:C4024879		http://purl.obolibrary.org/obo/HP_0007439		Generalised keratosis follicularis
OBO:HP_0007440	Generalized hyperpigmentation	biolink:OntologyClass	hp	UMLS:C4024878		http://purl.obolibrary.org/obo/HP_0007440		Generalised hyperpigmentation
OBO:HP_0007441	Hyperpigmented/hypopigmented macules	biolink:OntologyClass	hp	UMLS:C4024877		http://purl.obolibrary.org/obo/HP_0007441		
OBO:HP_0007443	Partial albinism	biolink:OntologyClass	hp	MSH:D016116|SNOMEDCT_US:6479008|SNOMEDCT_US:718122005|UMLS:C0080024	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.	http://purl.obolibrary.org/obo/HP_0007443		Partial absent skin pigmentation|Congenital partial albinism on face, trunk, or limbs|Congenital partial leucoderma
OBO:HP_0007446	Palmoplantar blistering	biolink:OntologyClass	hp	UMLS:C4024876	A type of blistering that affects the skin of the palms of the hands and the soles of the feet.	http://purl.obolibrary.org/obo/HP_0007446		
OBO:HP_0007447	Diffuse palmoplantar hyperkeratosis	biolink:OntologyClass	hp	UMLS:C4021575		http://purl.obolibrary.org/obo/HP_0007447		Hyperkeratosis, diffuse palmoplantar
OBO:HP_0007448	Hyperkeratosis over edematous areas	biolink:OntologyClass	hp	UMLS:C1835253		http://purl.obolibrary.org/obo/HP_0007448		
OBO:HP_0007449	Confetti-like hypopigmented macules	biolink:OntologyClass	hp	UMLS:C1851705		http://purl.obolibrary.org/obo/HP_0007449		
OBO:HP_0007450	Increased groin pigmentation with raindrop depigmentation	biolink:OntologyClass	hp	UMLS:C4024875		http://purl.obolibrary.org/obo/HP_0007450		
OBO:HP_0007451	Ipsilateral lack of facial sweating	biolink:OntologyClass	hp	UMLS:C4024874		http://purl.obolibrary.org/obo/HP_0007451		
OBO:HP_0007452	Midface capillary hemangioma	biolink:OntologyClass	hp	UMLS:C1849377		http://purl.obolibrary.org/obo/HP_0007452		Midfacial capillary hemangioma
OBO:HP_0007453	Flexural lichenification	biolink:OntologyClass	hp	UMLS:C4024873	Lichenification affecting primarily flexural areas of the skin.	http://purl.obolibrary.org/obo/HP_0007453		
OBO:HP_0007455	Adermatoglyphia	biolink:OntologyClass	hp	MSH:C565010|UMLS:C1852150		http://purl.obolibrary.org/obo/HP_0007455		
OBO:HP_0007456	Progressive reticulate hyperpigmentation	biolink:OntologyClass	hp	UMLS:C4024872		http://purl.obolibrary.org/obo/HP_0007456		
OBO:HP_0007457	Prominent veins on trunk	biolink:OntologyClass	hp	UMLS:C4024871	Prominent thoracic and abdominal veins.	http://purl.obolibrary.org/obo/HP_0007457		
OBO:HP_0007458	Focal hyperextensible skin	biolink:OntologyClass	hp	UMLS:C4024870		http://purl.obolibrary.org/obo/HP_0007458		
OBO:HP_0007459	Generalized anhidrosis	biolink:OntologyClass	hp	UMLS:C4024869		http://purl.obolibrary.org/obo/HP_0007459		Generalised anhidrosis|Generalized anhydrosis|Generalized inability to sweat
OBO:HP_0007460	Autoamputation of digits	biolink:OntologyClass	hp	UMLS:C1852289		http://purl.obolibrary.org/obo/HP_0007460		
OBO:HP_0007461	Hemangiomatosis	biolink:OntologyClass	hp	SNOMEDCT_US:254785001|SNOMEDCT_US:47669001|UMLS:C1384590		http://purl.obolibrary.org/obo/HP_0007461		
OBO:HP_0007462	Bitot spots of the conjunctiva	biolink:OntologyClass	hp	SNOMEDCT_US:246871006|UMLS:C0423178|UMLS:C4024868	Keratinization of the bulbar conjunctiva near the limbus (corneoscleral junction), resulting in a raised spot.	http://purl.obolibrary.org/obo/HP_0007462		Bitot's spots
OBO:HP_0007464	Sparse facial hair	biolink:OntologyClass	hp	UMLS:C2017869	Reduced number or density of facial hair.	http://purl.obolibrary.org/obo/HP_0007464		Sparse facial hair
OBO:HP_0007465	Honeycomb palmoplantar keratoderma	biolink:OntologyClass	hp	UMLS:C1866032		http://purl.obolibrary.org/obo/HP_0007465		
OBO:HP_0007466	Midfrontal capillary hemangioma	biolink:OntologyClass	hp	UMLS:C1859339		http://purl.obolibrary.org/obo/HP_0007466		
OBO:HP_0007468	Perifollicular hyperkeratosis	biolink:OntologyClass	hp	UMLS:C4024867	Increased amount of keratin (visible as white scales) surrounding hair follicles.	http://purl.obolibrary.org/obo/HP_0007468	hposlim_core	
OBO:HP_0007469	Palmoplantar cutis gyrata	biolink:OntologyClass	hp	UMLS:C1851797	Cutis gyrata of palms and soles.	http://purl.obolibrary.org/obo/HP_0007469		Cutis gyrata of palms and soles
OBO:HP_0007470	Periarticular subcutaneous nodules	biolink:OntologyClass	hp	UMLS:C3806306	Subcutaneous nodules that are located in the vicinity of joints.	http://purl.obolibrary.org/obo/HP_0007470		
OBO:HP_0007471	Axillary and groin hyperpigmentation and hypopigmentation	biolink:OntologyClass	hp	UMLS:C4024866		http://purl.obolibrary.org/obo/HP_0007471		
OBO:HP_0007473	Crusting erythematous dermatitis	biolink:OntologyClass	hp	UMLS:C1868496		http://purl.obolibrary.org/obo/HP_0007473		
OBO:HP_0007475	Congenital bullous ichthyosiform erythroderma	biolink:OntologyClass	hp	MSH:D017488|SNOMEDCT_US:239071005|SNOMEDCT_US:254167000|UMLS:C0079153	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.	http://purl.obolibrary.org/obo/HP_0007475		Bullous congenital ichthyosiform erythroderma|Epidermolytic hyperkeratosis
OBO:HP_0007476	Anhidrotic ectodermal dysplasia	biolink:OntologyClass	hp	MSH:D004476|SNOMEDCT_US:7731005|UMLS:C1706004		http://purl.obolibrary.org/obo/HP_0007476		
OBO:HP_0007477	Abnormal dermatoglyphics	biolink:OntologyClass	hp	SNOMEDCT_US:83145004|UMLS:C0432333	An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles.	http://purl.obolibrary.org/obo/HP_0007477	hposlim_core	Abnormal fingerprints|Dermatoglyphic abnormalities
OBO:HP_0007479	Congenital nonbullous ichthyosiform erythroderma	biolink:OntologyClass	hp	MSH:D017490|SNOMEDCT_US:205550003|SNOMEDCT_US:267372009|SNOMEDCT_US:268245001|UMLS:C0079154	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.	http://purl.obolibrary.org/obo/HP_0007479		Collodion baby|Congenital lamellar ichthyosis|Congenital non-bullous ichthyosis|Ichthyosis lammellaris|Ichthyosis, congenital, nonblistering|Nonbullous congenital ichthyosiform erythroderma|Nonbullous congenital ichthyosis
OBO:HP_0007480	Decreased sweating due to autonomic dysfunction	biolink:OntologyClass	hp	UMLS:C1868527		http://purl.obolibrary.org/obo/HP_0007480		
OBO:HP_0007481	Hyperpigmented nevi	biolink:OntologyClass	hp	UMLS:C0746889		http://purl.obolibrary.org/obo/HP_0007481		
OBO:HP_0007482	Generalized papillary lesions	biolink:OntologyClass	hp	UMLS:C4024865		http://purl.obolibrary.org/obo/HP_0007482		Generalised papillary lesions
OBO:HP_0007483	Depigmentation/hyperpigmentation of skin	biolink:OntologyClass	hp	UMLS:C4024864		http://purl.obolibrary.org/obo/HP_0007483		
OBO:HP_0007485	Absence of subcutaneous fat	biolink:OntologyClass	hp	UMLS:C0241267|UMLS:C4024855	Lack of subcutaneous adipose tissue.	http://purl.obolibrary.org/obo/HP_0007485		Absent fat below the skin|Lack of fatty tissue below the skin|General absence of subcutaneous fat
OBO:HP_0007486	Cavernous hemangioma of the face	biolink:OntologyClass	hp	NCIT:C3086|UMLS:C1332863		http://purl.obolibrary.org/obo/HP_0007486		
OBO:HP_0007488	Diffuse skin atrophy	biolink:OntologyClass	hp	UMLS:C4024863		http://purl.obolibrary.org/obo/HP_0007488		
OBO:HP_0007489	Diffuse telangiectasia	biolink:OntologyClass	hp	SNOMEDCT_US:125279001|UMLS:C1265776	Telangiectases (small dilated blood vessels) with a diffuse localization.	http://purl.obolibrary.org/obo/HP_0007489		Diffuse telangiectases|Telangiectases, random body distribution
OBO:HP_0007490	Linear arrays of macular hyperkeratoses in flexural areas	biolink:OntologyClass	hp	UMLS:C1866031		http://purl.obolibrary.org/obo/HP_0007490		
OBO:HP_0007494	Discrete 2 to 5-mm hyper- and hypopigmented macules	biolink:OntologyClass	hp	UMLS:C1851552		http://purl.obolibrary.org/obo/HP_0007494		
OBO:HP_0007495	Prematurely aged appearance	biolink:OntologyClass	hp	UMLS:C1857656		http://purl.obolibrary.org/obo/HP_0007495		Precociously senile appearance|Prematurely aged appearance
OBO:HP_0007497	Focal friction-related palmoplantar hyperkeratosis	biolink:OntologyClass	hp	UMLS:C1835654	Hyperkeratosis affecting the palm of the hand and the sole of the foot in areas exposed to friction.	http://purl.obolibrary.org/obo/HP_0007497		Hyperkeratosis, palmoplantar, focal friction-related
OBO:HP_0007499	Recurrent staphylococcal infections	biolink:OntologyClass	hp	UMLS:C4024862	Increased susceptibility to staphylococcal infections, as manifested by recurrent episodes of staphylococcal infections.	http://purl.obolibrary.org/obo/HP_0007499		Recurrent staphylococcal infections
OBO:HP_0007500	Decreased number of sweat glands	biolink:OntologyClass	hp	UMLS:C4021574	The presence of fewer than normal sweat glands.	http://purl.obolibrary.org/obo/HP_0007500		Decreased sweat glands|Decreased sweat pores
OBO:HP_0007501	Streaks of hyperkeratosis along each finger onto the palm	biolink:OntologyClass	hp	UMLS:C4024861		http://purl.obolibrary.org/obo/HP_0007501		
OBO:HP_0007502	Follicular hyperkeratosis	biolink:OntologyClass	hp	SNOMEDCT_US:238629004|SNOMEDCT_US:402341008|SNOMEDCT_US:81845009|UMLS:C0334013	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.	http://purl.obolibrary.org/obo/HP_0007502	hposlim_core	Hyperkeratosis follicularis
OBO:HP_0007503	Generalized ichthyosis	biolink:OntologyClass	hp	UMLS:C3552528		http://purl.obolibrary.org/obo/HP_0007503		Generalised ichthyosis
OBO:HP_0007504	Diffuse slow skin atrophy	biolink:OntologyClass	hp	UMLS:C4024860		http://purl.obolibrary.org/obo/HP_0007504		
OBO:HP_0007505	Progressive hyperpigmentation	biolink:OntologyClass	hp	UMLS:C4024859		http://purl.obolibrary.org/obo/HP_0007505		
OBO:HP_0007506	Congenital absence of skin of limbs	biolink:OntologyClass	hp	UMLS:C4024858		http://purl.obolibrary.org/obo/HP_0007506		Missing skin on limbs since birth
OBO:HP_0007508	Punctate palmar hyperkeratosis	biolink:OntologyClass	hp	UMLS:C4024857	Tiny bumps of thickened skin (hyperkeratosis) on the palms of the hands.	http://purl.obolibrary.org/obo/HP_0007508		
OBO:HP_0007509	Patchy hypo- and hyperpigmentation	biolink:OntologyClass	hp	UMLS:C4021573		http://purl.obolibrary.org/obo/HP_0007509		Patchy hypo- and hyper-pigmentation
OBO:HP_0007510	Focal dermal aplasia/hypoplasia	biolink:OntologyClass	hp	UMLS:C1834069		http://purl.obolibrary.org/obo/HP_0007510		
OBO:HP_0007511	Mottled pigmentation of photoexposed areas	biolink:OntologyClass	hp	UMLS:C3151964		http://purl.obolibrary.org/obo/HP_0007511		
OBO:HP_0007513	Generalized hypopigmentation	biolink:OntologyClass	hp	UMLS:C1849923		http://purl.obolibrary.org/obo/HP_0007513	hposlim_core	Fair skin|Pale pigmentation|Generalised hypopigmentation
OBO:HP_0007514	Edema of the dorsum of hands	biolink:OntologyClass	hp	MEDDRA:10058204|SNOMEDCT_US:443710002|UMLS:C2732374|UMLS:C2751873	An abnormal accumulation of fluid beneath the skin on the back of the hands.	http://purl.obolibrary.org/obo/HP_0007514		Oedema of the dorsum of hands|Edema of dorsum of hands
OBO:HP_0007515	Hypoplastic pilosebaceous units	biolink:OntologyClass	hp	UMLS:C1832454		http://purl.obolibrary.org/obo/HP_0007515		
OBO:HP_0007516	Redundant skin on fingers	biolink:OntologyClass	hp	UMLS:C4024856	Loose and sagging skin of the fingers.	http://purl.obolibrary.org/obo/HP_0007516		Extra skin on fingers
OBO:HP_0007517	Palmoplantar cutis laxa	biolink:OntologyClass	hp	UMLS:C1856714	Loose, wrinkled skin of hands and feet.	http://purl.obolibrary.org/obo/HP_0007517		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
OBO:HP_0007519	obsolete Lack of subcutaneous fatty tissue	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0007519		
OBO:HP_0007521	Irregular hyperpigmentation of back	biolink:OntologyClass	hp	UMLS:C4024854		http://purl.obolibrary.org/obo/HP_0007521		
OBO:HP_0007522	Increased number of skin folds	biolink:OntologyClass	hp	UMLS:C4024853		http://purl.obolibrary.org/obo/HP_0007522		Increased number of skin folds
OBO:HP_0007524	Atypical neurofibromatosis	biolink:OntologyClass	hp	MSH:C537392|UMLS:C0220695		http://purl.obolibrary.org/obo/HP_0007524		
OBO:HP_0007525	Yellow subcutaneous tissue covered by thin, scaly skin	biolink:OntologyClass	hp	UMLS:C1850533		http://purl.obolibrary.org/obo/HP_0007525		
OBO:HP_0007526	Hypopigmented skin patches on arms	biolink:OntologyClass	hp	UMLS:C4024852		http://purl.obolibrary.org/obo/HP_0007526		Patchy loss of skin color on arms|Hypopigmented skin patches on arms
OBO:HP_0007529	Hidrotic ectodermal dysplasia	biolink:OntologyClass	hp	MSH:D004476|SNOMEDCT_US:54209007|UMLS:C0162361		http://purl.obolibrary.org/obo/HP_0007529		
OBO:HP_0007530	Punctate palmoplantar hyperkeratosis	biolink:OntologyClass	hp	UMLS:C4024851		http://purl.obolibrary.org/obo/HP_0007530		
OBO:HP_0007534	Congenital posterior occipital alopecia	biolink:OntologyClass	hp	UMLS:C4024850	Loss of hair in the occipital region of the scalp with congenital onset.	http://purl.obolibrary.org/obo/HP_0007534		
OBO:HP_0007535	Hypopigmented streaks	biolink:OntologyClass	hp	UMLS:C1866244		http://purl.obolibrary.org/obo/HP_0007535		
OBO:HP_0007536	Aplasia cutis congenita of midline scalp vertex	biolink:OntologyClass	hp	UMLS:C4024849		http://purl.obolibrary.org/obo/HP_0007536		
OBO:HP_0007537	Severe photosensitivity	biolink:OntologyClass	hp	UMLS:C1849186	A severe degree of photosensitivity of the skin.	http://purl.obolibrary.org/obo/HP_0007537		Severe sun sensitivity
OBO:HP_0007541	Frontal cutaneous lipoma	biolink:OntologyClass	hp	NCIT:C3192|UMLS:C1850970	Presence of a cutaneous lipoma on the forehead.	http://purl.obolibrary.org/obo/HP_0007541		
OBO:HP_0007542	Absent pigmentation of the ventral chest	biolink:OntologyClass	hp	UMLS:C4024848	Lack of skin pigmentation (coloring) of the anterior chest.	http://purl.obolibrary.org/obo/HP_0007542		
OBO:HP_0007543	Epidermal hyperkeratosis	biolink:OntologyClass	hp	UMLS:C1848773		http://purl.obolibrary.org/obo/HP_0007543		Increased thickness of skin epidermis
OBO:HP_0007544	Piebaldism	biolink:OntologyClass	hp	MSH:D016116|SNOMEDCT_US:6479008|SNOMEDCT_US:718122005|UMLS:C0080024	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.	http://purl.obolibrary.org/obo/HP_0007544		
OBO:HP_0007545	Congenital palmoplantar keratosis	biolink:OntologyClass	hp	UMLS:C1855633		http://purl.obolibrary.org/obo/HP_0007545		
OBO:HP_0007546	Linear hyperpigmentation	biolink:OntologyClass	hp	UMLS:C3278658		http://purl.obolibrary.org/obo/HP_0007546		
OBO:HP_0007548	Palmoplantar keratosis with erythema and scale	biolink:OntologyClass	hp	UMLS:C1843294		http://purl.obolibrary.org/obo/HP_0007548		
OBO:HP_0007549	Desquamation of skin soon after birth	biolink:OntologyClass	hp	UMLS:C1842714		http://purl.obolibrary.org/obo/HP_0007549		
OBO:HP_0007550	Hypohidrosis or hyperhidrosis	biolink:OntologyClass	hp	UMLS:C4021831		http://purl.obolibrary.org/obo/HP_0007550		Lack of sweating or excessive sweating
OBO:HP_0007552	Abnormal subcutaneous fat tissue distribution	biolink:OntologyClass	hp	UMLS:C1859347		http://purl.obolibrary.org/obo/HP_0007552		Abnormal fat tissue distribution below the skin
OBO:HP_0007553	Congenital symmetrical palmoplantar keratosis	biolink:OntologyClass	hp	UMLS:C1855459		http://purl.obolibrary.org/obo/HP_0007553		
OBO:HP_0007554	Confetti hypopigmentation pattern of lower leg skin	biolink:OntologyClass	hp	UMLS:C4024847		http://purl.obolibrary.org/obo/HP_0007554		Confetti hypopigmentation pattern of lower leg skin
OBO:HP_0007556	Plantar hyperkeratosis	biolink:OntologyClass	hp	UMLS:C1856954	Hyperkeratosis affecting the sole of the foot.	http://purl.obolibrary.org/obo/HP_0007556		Plantar hyperkeratoses
OBO:HP_0007559	Localized epidermolytic hyperkeratosis	biolink:OntologyClass	hp	MSH:D053546|UMLS:C1721006		http://purl.obolibrary.org/obo/HP_0007559		Localised epidermolytic hyperkeratosis
OBO:HP_0007560	Unusual dermatoglyphics	biolink:OntologyClass	hp	UMLS:C4024846		http://purl.obolibrary.org/obo/HP_0007560		
OBO:HP_0007561	Telangiectases in sun-exposed and nonexposed skin	biolink:OntologyClass	hp	UMLS:C1868184		http://purl.obolibrary.org/obo/HP_0007561		
OBO:HP_0007565	Multiple cafe-au-lait spots	biolink:OntologyClass	hp	MSH:C537421|UMLS:C1861975	The presence of six or more cafe-au-lait spots.	http://purl.obolibrary.org/obo/HP_0007565		Multiple birthmarks|Multiple flat light-brown marks on skin
OBO:HP_0007566	Index finger dermatoglyphic radial loop	biolink:OntologyClass	hp	UMLS:C4024845		http://purl.obolibrary.org/obo/HP_0007566		
OBO:HP_0007569	Generalized seborrheic dermatitis	biolink:OntologyClass	hp	UMLS:C4024844	Seborrheic dermatitis that is not localized to any one particular region.	http://purl.obolibrary.org/obo/HP_0007569		Generalised seborrheic dermatitis|Generalized seborrheic eczema
OBO:HP_0007570	Hyperkeratosis lenticularis perstans	biolink:OntologyClass	hp	MSH:C538377|SNOMEDCT_US:28488007|UMLS:C0263420	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.	http://purl.obolibrary.org/obo/HP_0007570		Flegel disease
OBO:HP_0007572	Hyperpigmented streaks	biolink:OntologyClass	hp	UMLS:C1866245		http://purl.obolibrary.org/obo/HP_0007572		
OBO:HP_0007573	Late onset atopic dermatitis	biolink:OntologyClass	hp	UMLS:C4024843|UMLS:C4280439	A form of atopic dermatitis with onset in adulthood characterized by atopic red face, chronic lichenified eczema on the trunk, subacute or psoriasiform dermatitis.	http://purl.obolibrary.org/obo/HP_0007573		Late onset baby eczema
OBO:HP_0007574	Generalized bronze hyperpigmentation	biolink:OntologyClass	hp	UMLS:C2939074|UMLS:C4024842		http://purl.obolibrary.org/obo/HP_0007574		Bronze skin|Generalised bronze hyperpigmentation
OBO:HP_0007576	Palmar neurofibromas	biolink:OntologyClass	hp	UMLS:C4024841		http://purl.obolibrary.org/obo/HP_0007576		
OBO:HP_0007581	Mediosternal, longitudinal streak of hypopigmentation	biolink:OntologyClass	hp	UMLS:C4024840		http://purl.obolibrary.org/obo/HP_0007581		
OBO:HP_0007583	Telangiectasia macularis eruptiva perstans	biolink:OntologyClass	hp	SNOMEDCT_US:8214000|UMLS:C0263402		http://purl.obolibrary.org/obo/HP_0007583		
OBO:HP_0007585	Skin fragility with non-scarring blistering	biolink:OntologyClass	hp	UMLS:C1851562		http://purl.obolibrary.org/obo/HP_0007585		
OBO:HP_0007586	Telangiectases producing 'marbled' skin	biolink:OntologyClass	hp	UMLS:C4024839		http://purl.obolibrary.org/obo/HP_0007586		
OBO:HP_0007587	Numerous pigmented freckles	biolink:OntologyClass	hp	UMLS:C1968565		http://purl.obolibrary.org/obo/HP_0007587		Numerous pigmented freckles
OBO:HP_0007588	Reticular hyperpigmentation	biolink:OntologyClass	hp	UMLS:C1851972	Increased pigmentation of the skin with a netlike (reticular) pattern.	http://purl.obolibrary.org/obo/HP_0007588		Reticulate hyperpigmentation
OBO:HP_0007589	Aplasia cutis congenita on trunk or limbs	biolink:OntologyClass	hp	UMLS:C1863496	A developmental defect resulting in the congenital absence of skin on the trunk or the limbs.	http://purl.obolibrary.org/obo/HP_0007589		
OBO:HP_0007590	Aplasia cutis congenita over posterior parietal area	biolink:OntologyClass	hp	UMLS:C1863495		http://purl.obolibrary.org/obo/HP_0007590		
OBO:HP_0007592	Aplasia/Hypoplastia of the eccrine sweat glands	biolink:OntologyClass	hp	UMLS:C1844618	Absence or developmental hypoplasia of the eccrine sweat glands.	http://purl.obolibrary.org/obo/HP_0007592		Hypoplastic-absent eccrine sweat glands
OBO:HP_0007595	Redundant skin in infancy	biolink:OntologyClass	hp	UMLS:C1835587		http://purl.obolibrary.org/obo/HP_0007595		Excess skin in infancy
OBO:HP_0007596	Painful subcutaneous lipomas	biolink:OntologyClass	hp	UMLS:C4024838	The presence of multiple subcutaneous lipoma that cause pain.	http://purl.obolibrary.org/obo/HP_0007596		Painful noncancerous fat tissue tumor under the skin
OBO:HP_0007597	Congenital palmoplantar keratodermia	biolink:OntologyClass	hp	UMLS:C4024837		http://purl.obolibrary.org/obo/HP_0007597		
OBO:HP_0007598	Bilateral single transverse palmar creases	biolink:OntologyClass	hp	UMLS:C1862095	The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands.	http://purl.obolibrary.org/obo/HP_0007598		
OBO:HP_0007599	Generalized reticulate brown pigmentation	biolink:OntologyClass	hp	UMLS:C4024836		http://purl.obolibrary.org/obo/HP_0007599		Generalised reticulate brown pigmentation
OBO:HP_0007601	Midline facial capillary hemangioma	biolink:OntologyClass	hp	UMLS:C1840310		http://purl.obolibrary.org/obo/HP_0007601		
OBO:HP_0007602	Complex palmar dermatoglyphic pattern	biolink:OntologyClass	hp	UMLS:C4024835		http://purl.obolibrary.org/obo/HP_0007602		
OBO:HP_0007603	Freckles in sun-exposed areas	biolink:OntologyClass	hp	UMLS:C1859923		http://purl.obolibrary.org/obo/HP_0007603		Freckles in sun-exposed areas
OBO:HP_0007605	Excessive wrinkling of palmar skin	biolink:OntologyClass	hp	UMLS:C4021572		http://purl.obolibrary.org/obo/HP_0007605		Redundant, wrinkled skin of palms
OBO:HP_0007606	Multiple cutaneous malignancies	biolink:OntologyClass	hp	UMLS:C4024834		http://purl.obolibrary.org/obo/HP_0007606		
OBO:HP_0007607	Hypohidrotic ectodermal dysplasia	biolink:OntologyClass	hp	MSH:D053358|SNOMEDCT_US:239007005|SNOMEDCT_US:7731005|UMLS:C0162359		http://purl.obolibrary.org/obo/HP_0007607		
OBO:HP_0007608	Abnormal palmar dermal ridges	biolink:OntologyClass	hp	UMLS:C4024833		http://purl.obolibrary.org/obo/HP_0007608		
OBO:HP_0007609	Hypoproteinemic edema	biolink:OntologyClass	hp	UMLS:C4024832	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).	http://purl.obolibrary.org/obo/HP_0007609		Hypoproteinemic oedema
OBO:HP_0007610	Blotching pigmentation of the skin	biolink:OntologyClass	hp	UMLS:C4024831		http://purl.obolibrary.org/obo/HP_0007610		
OBO:HP_0007613	Spinous keratoses of palms and soles	biolink:OntologyClass	hp	UMLS:C4024830		http://purl.obolibrary.org/obo/HP_0007613		
OBO:HP_0007616	Nevus flammeus nuchae	biolink:OntologyClass	hp	UMLS:C0860468|UMLS:C4024829|UMLS:C4280438	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.	http://purl.obolibrary.org/obo/HP_0007616		Port-wine stain on neck|Stork bite|Angel's kiss|Salmon patch
OBO:HP_0007617	Fine, reticulate skin pigmentation	biolink:OntologyClass	hp	UMLS:C4024828		http://purl.obolibrary.org/obo/HP_0007617		
OBO:HP_0007618	Subcutaneous calcification	biolink:OntologyClass	hp	SNOMEDCT_US:17141001|UMLS:C0263625	Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument).	http://purl.obolibrary.org/obo/HP_0007618	hposlim_core	Skin calcification
OBO:HP_0007620	Cutaneous leiomyoma	biolink:OntologyClass	hp	NCIT:C3157|SNOMEDCT_US:254767008|UMLS:C0346064	The presence of leiomyoma of the skin.	http://purl.obolibrary.org/obo/HP_0007620		Cutaneous leiomyomas|Cutaneous leiomyomata
OBO:HP_0007621	Telangiectasia of extensor surfaces	biolink:OntologyClass	hp	UMLS:C4024827		http://purl.obolibrary.org/obo/HP_0007621		
OBO:HP_0007623	Pigmentation anomalies of sun-exposed skin	biolink:OntologyClass	hp	UMLS:C4024826		http://purl.obolibrary.org/obo/HP_0007623		Abnormal pigmentation in sun-exposed skin
OBO:HP_0007626	Mandibular osteomyelitis	biolink:OntologyClass	hp	SNOMEDCT_US:109695005|UMLS:C1290708	Osteomyelitis of the lower jaw.	http://purl.obolibrary.org/obo/HP_0007626		Lower jaw bone infection|Osteomyelitis, especially of the mandible
OBO:HP_0007627	Mandibular condyle aplasia	biolink:OntologyClass	hp	SNOMEDCT_US:235119009|UMLS:C0399570|UMLS:C4280429|UMLS:C4280430|UMLS:C4280431|UMLS:C4280432|UMLS:C4280433|UMLS:C4280434|UMLS:C4280435|UMLS:C4280436|UMLS:C4280437		http://purl.obolibrary.org/obo/HP_0007627		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
OBO:HP_0007628	Mandibular condyle hypoplasia	biolink:OntologyClass	hp	SNOMEDCT_US:235120003|UMLS:C0399572|UMLS:C4280423|UMLS:C4280424|UMLS:C4280425|UMLS:C4280426|UMLS:C4280427|UMLS:C4280428		http://purl.obolibrary.org/obo/HP_0007628		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
OBO:HP_0007633	Bilateral microphthalmos	biolink:OntologyClass	hp	UMLS:C1843496|UMLS:C4280421|UMLS:C4280422	A developmental anomaly characterized by abnormal smallness of both eyes.	http://purl.obolibrary.org/obo/HP_0007633		Decreased size of eyeballs|Abnormally small eyeball on both sides|Decreased size of globes of eyes|Microphthalmia, bilateral|Bilateral nanophthalmos
OBO:HP_0007634	Nonarteritic anterior ischemic optic neuropathy	biolink:OntologyClass	hp	UMLS:C1852242	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.	http://purl.obolibrary.org/obo/HP_0007634		Nonarteritic anterior ischaemic optic neuropathy
OBO:HP_0007641	Dyschromatopsia	biolink:OntologyClass	hp	UMLS:C0858618	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.	http://purl.obolibrary.org/obo/HP_0007641		Color blindness|Colour blindness
OBO:HP_0007642	Congenital stationary night blindness	biolink:OntologyClass	hp	MSH:C536122|MSH:C537743|SNOMEDCT_US:193687000|SNOMEDCT_US:232061009|UMLS:C0339535|UMLS:C1306122|UMLS:C3551052|UMLS:C4048798	A nonprogressive (i.e., stationary) form of difficulties with night blindness with congenital onset.	http://purl.obolibrary.org/obo/HP_0007642		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
OBO:HP_0007643	Peripheral tractional retinal detachment	biolink:OntologyClass	hp	UMLS:C4024825	Tractional retinal detachment at the periphery of the retina.	http://purl.obolibrary.org/obo/HP_0007643		Peripheral traction retinal detachment|Tractional retinal detachment at the periphery of the retina
OBO:HP_0007646	Absent lower eyelashes	biolink:OntologyClass	hp	UMLS:C4024824	Lack of eyelashes on the lower lid.	http://purl.obolibrary.org/obo/HP_0007646		Absent lower eyelashes|Failure of development of lower eyelashes|Atrichia of lower eyelashes|Agenesis of lower eyelashes|Aplasia of lower eyelashes
OBO:HP_0007647	Congenital extraocular muscle anomaly	biolink:OntologyClass	hp	UMLS:C4024823	Congenital abnormality of the extraocular muscles.	http://purl.obolibrary.org/obo/HP_0007647		
OBO:HP_0007648	Punctate cataract	biolink:OntologyClass	hp	SNOMEDCT_US:40714009|UMLS:C0271165|UMLS:C1969675	A type of cataract with punctate opacities of the lens.	http://purl.obolibrary.org/obo/HP_0007648		Punctate lenticular opacities
OBO:HP_0007649	Congenital hypertrophy of retinal pigment epithelium	biolink:OntologyClass	hp	SNOMEDCT_US:232074003|UMLS:C0339555	Sharply demarcated, congenital hyperpigmentation of the retinal pigment epithelium.	http://purl.obolibrary.org/obo/HP_0007649		
OBO:HP_0007650	Progressive ophthalmoplegia	biolink:OntologyClass	hp	UMLS:C2062713		http://purl.obolibrary.org/obo/HP_0007650		
OBO:HP_0007651	Ectropion of lower eyelids	biolink:OntologyClass	hp	SNOMEDCT_US:95758006|UMLS:C0521736|UMLS:C4020808		http://purl.obolibrary.org/obo/HP_0007651		Lower eyelid folded out|Lower eyelid turned out|Everted lower eyelids
OBO:HP_0007654	obsolete Retinal striation	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0007654		
OBO:HP_0007655	Eversion of lateral third of lower eyelids	biolink:OntologyClass	hp	UMLS:C1835801		http://purl.obolibrary.org/obo/HP_0007655		
OBO:HP_0007656	Lacrimal gland aplasia	biolink:OntologyClass	hp	UMLS:C4024822	A congenital defect of development characterized by absence of the lacrimal gland.	http://purl.obolibrary.org/obo/HP_0007656		Absent tear gland
OBO:HP_0007657	Diffuse nuclear cataract	biolink:OntologyClass	hp	UMLS:C4024821	Opacity of the entire lens nucleus.	http://purl.obolibrary.org/obo/HP_0007657		
OBO:HP_0007658	Large hyperpigmented retinal spots	biolink:OntologyClass	hp	UMLS:C4024820		http://purl.obolibrary.org/obo/HP_0007658		
OBO:HP_0007659	obsolete Decreased retinal pigmentation with dispersion	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0007659		
OBO:HP_0007661	Abnormality of chorioretinal pigmentation	biolink:OntologyClass	hp	UMLS:C4024819		http://purl.obolibrary.org/obo/HP_0007661		
OBO:HP_0007663	Reduced visual acuity	biolink:OntologyClass	hp	SNOMEDCT_US:13164000|UMLS:C0234632		http://purl.obolibrary.org/obo/HP_0007663		Decreased clarity of vision|Decreased central vision|Decreased visual acuity|Poor visual acuity
OBO:HP_0007665	Curly eyelashes	biolink:OntologyClass	hp	UMLS:C2673670	Abnormally curly or curved eyelashes.	http://purl.obolibrary.org/obo/HP_0007665	hposlim_core	Curly eyelashes
OBO:HP_0007667	Peripheral cystoid retinal degeneration	biolink:OntologyClass	hp	UMLS:C1839362	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.	http://purl.obolibrary.org/obo/HP_0007667		Cystic retinal degeneration|Peripheral cystoid degeneration
OBO:HP_0007668	Impaired pursuit initiation and maintenance	biolink:OntologyClass	hp	UMLS:C1969722		http://purl.obolibrary.org/obo/HP_0007668		
OBO:HP_0007670	Abnormal vestibulo-ocular reflex	biolink:OntologyClass	hp	UMLS:C4021571	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.	http://purl.obolibrary.org/obo/HP_0007670		Abnormal vestibuloocular reflex
OBO:HP_0007675	Progressive night blindness	biolink:OntologyClass	hp	UMLS:C4024818		http://purl.obolibrary.org/obo/HP_0007675		Progressive night blindness
OBO:HP_0007676	Hypoplasia of the iris	biolink:OntologyClass	hp	SNOMEDCT_US:95714006|UMLS:C0344539	Congenital underdevelopment of the iris.	http://purl.obolibrary.org/obo/HP_0007676	hposlim_core	Underdeveloped iris|Hypoplastic iris|Iris hypoplasia
OBO:HP_0007677	Vitelliform-like macular lesions	biolink:OntologyClass	hp	MSH:D057826|SNOMEDCT_US:90036004|UMLS:C0339510|UMLS:C4024817	Vitelliform maculopathy is a sharply demarcated lesion caused by the accumulation of material, often lipofuscin in the subretinal space underlying the macula.	http://purl.obolibrary.org/obo/HP_0007677		Vitelliform macular lesions|Vitelliform macular dystrophy
OBO:HP_0007678	Lacrimal duct stenosis	biolink:OntologyClass	hp	SNOMEDCT_US:231841004|UMLS:C0238300	Narrowing of a tear duct (lacrimal duct).	http://purl.obolibrary.org/obo/HP_0007678		Narrowing of the tear duct|Nasolacrimal duct stenosis
OBO:HP_0007680	Depigmented fundus	biolink:OntologyClass	hp	UMLS:C4024816		http://purl.obolibrary.org/obo/HP_0007680		
OBO:HP_0007685	Peripheral retinal avascularization	biolink:OntologyClass	hp	UMLS:C1851406		http://purl.obolibrary.org/obo/HP_0007685		
OBO:HP_0007686	Abnormal pupillary function	biolink:OntologyClass	hp	MSH:D011681|SNOMEDCT_US:72124005|UMLS:C0917967	A functional abnormality of the pupil.	http://purl.obolibrary.org/obo/HP_0007686		
OBO:HP_0007687	Unilateral ptosis	biolink:OntologyClass	hp	UMLS:C1866806	A unilateral form of ptosis.	http://purl.obolibrary.org/obo/HP_0007687		Dropping of one upper eyelid
OBO:HP_0007688	Undetectable light- and dark-adapted electroretinogram	biolink:OntologyClass	hp	UMLS:C4021570	Absence of the combined rod-and-cone response on electroretinogram.	http://purl.obolibrary.org/obo/HP_0007688		Absent cone and rod functions by electroretinogram|Absent rod-and cone-mediated responses on ERG
OBO:HP_0007690	Map-dot-fingerprint corneal dystrophy	biolink:OntologyClass	hp	SNOMEDCT_US:32935005|UMLS:C0271285		http://purl.obolibrary.org/obo/HP_0007690		
OBO:HP_0007691	obsolete Short curly eyelashes	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0007691		
OBO:HP_0007692	obsolete Nonnuclear polymorphic congenital cataract	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0007692		
OBO:HP_0007695	Abnormal pupillary light reflex	biolink:OntologyClass	hp	UMLS:C1970591	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.	http://purl.obolibrary.org/obo/HP_0007695		
OBO:HP_0007697	Hypoplasia of the lower eyelids	biolink:OntologyClass	hp	UMLS:C4024814|UMLS:C4280270|UMLS:C4280420	Underdevelopment of the lower eyelid.	http://purl.obolibrary.org/obo/HP_0007697		Small lower eyelid|Decreased size of lower eyelid|Underdevelopment of lower eyelid|Short lower eyelid|Hypotrophic lower eyelid
OBO:HP_0007698	obsolete Retinal pigment epithelial atrophy	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0007698		
OBO:HP_0007700	Ocular anterior segment dysgenesis	biolink:OntologyClass	hp	SNOMEDCT_US:65075004|UMLS:C0266525	Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin.	http://purl.obolibrary.org/obo/HP_0007700		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
OBO:HP_0007702	obsolete Pigmentary retinal deposits	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0007702		
OBO:HP_0007703	Abnormality of retinal pigmentation	biolink:OntologyClass	hp	SNOMEDCT_US:421689001|UMLS:C1720508|UMLS:C1862475		http://purl.obolibrary.org/obo/HP_0007703		Abnormal retinal pigmentation|Abnormality of RPE|Abnormality of retinal pigment epithelium|Retinal pigmentary anomaly|Abnormality of the retinal pigment epithelium
OBO:HP_0007704	Paroxysmal involuntary eye movements	biolink:OntologyClass	hp	UMLS:C1847515	Sudden-onset episode of abnormal, involuntary eye movements.	http://purl.obolibrary.org/obo/HP_0007704		Abnormal eye movements, paroxysmal
OBO:HP_0007705	Corneal degeneration	biolink:OntologyClass	hp	SNOMEDCT_US:111521006|UMLS:C0155118		http://purl.obolibrary.org/obo/HP_0007705		
OBO:HP_0007707	Congenital aphakia	biolink:OntologyClass	hp	MSH:C537786|UMLS:C1853230	Absence of the crystalline lens of the eye as a result of a developmental defect.	http://purl.obolibrary.org/obo/HP_0007707		Lens agenesis
OBO:HP_0007708	Absent inner eyelashes	biolink:OntologyClass	hp	UMLS:C4024812		http://purl.obolibrary.org/obo/HP_0007708		Absent inner eyelashes
OBO:HP_0007709	Band-shaped corneal dystrophy	biolink:OntologyClass	hp	MSH:C562399|SNOMEDCT_US:35055000|UMLS:C0155120		http://purl.obolibrary.org/obo/HP_0007709		
OBO:HP_0007710	Peripheral vitreous opacities	biolink:OntologyClass	hp	UMLS:C4024811		http://purl.obolibrary.org/obo/HP_0007710		
OBO:HP_0007712	obsolete Choroidal dystrophy	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0007712		
OBO:HP_0007713	obsolete Juvenile zonular cataracts	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0007713		
OBO:HP_0007715	Weak extraocular muscles	biolink:OntologyClass	hp	UMLS:C1859436		http://purl.obolibrary.org/obo/HP_0007715		
OBO:HP_0007716	Uveal melanoma	biolink:OntologyClass	hp	MSH:C536494|NCIT:C3224|UMLS:C0220633	A malignant melanoma originating within the eye. The tumor originates from the melanocytes in the uvea (which comprises the iris, ciliary body, and choroid).	http://purl.obolibrary.org/obo/HP_0007716		Intraocular melanoma
OBO:HP_0007717	Chronic irritative conjunctivitis	biolink:OntologyClass	hp	UMLS:C4024810	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.	http://purl.obolibrary.org/obo/HP_0007717		
OBO:HP_0007720	Flat cornea	biolink:OntologyClass	hp	SNOMEDCT_US:204145006|UMLS:C0344529	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.	http://purl.obolibrary.org/obo/HP_0007720		Cornea plana
OBO:HP_0007721	Saccular conjunctival dilatations	biolink:OntologyClass	hp	UMLS:C3277464	Presence of multiple dilatations (sac-like outpouchings) in the blood vessels of the conjunctiva.	http://purl.obolibrary.org/obo/HP_0007721		Saccular conjunctival aneurysms
OBO:HP_0007722	Retinal pigment epithelial atrophy	biolink:OntologyClass	hp	UMLS:C1840457	Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging.	http://purl.obolibrary.org/obo/HP_0007722		
OBO:HP_0007727	Opacification of the corneal epithelium	biolink:OntologyClass	hp	UMLS:C1849198	Lack of transparency of the corneal epithelium.	http://purl.obolibrary.org/obo/HP_0007727		Superficial corneal opacities
OBO:HP_0007728	Congenital miosis	biolink:OntologyClass	hp	MSH:C537550|SNOMEDCT_US:400962005|UMLS:C1303009	Abnormal (non-physiological) constriction of the pupil of congenital onset.	http://purl.obolibrary.org/obo/HP_0007728		
OBO:HP_0007730	Iris hypopigmentation	biolink:OntologyClass	hp	SNOMEDCT_US:247032003|SNOMEDCT_US:70397008|UMLS:C0154920	An abnormal reduction in the amount of pigmentation of the iris.	http://purl.obolibrary.org/obo/HP_0007730		Light eye color|Reduced iris pigmentation
OBO:HP_0007731	Chorioretinal dysplasia	biolink:OntologyClass	hp	UMLS:C4024809	Abnormal development of the choroid and retina.	http://purl.obolibrary.org/obo/HP_0007731		
OBO:HP_0007732	Lacrimal gland hypoplasia	biolink:OntologyClass	hp	UMLS:C1863200	Underdevelopment of the lacrimal gland.	http://purl.obolibrary.org/obo/HP_0007732		Underdeveloped tear gland|Hypoplastic lacrimal gland
OBO:HP_0007733	Laterally curved eyebrow	biolink:OntologyClass	hp	UMLS:C1846266		http://purl.obolibrary.org/obo/HP_0007733		
OBO:HP_0007734	Enlarged lacrimal glands	biolink:OntologyClass	hp	UMLS:C1867030	Abnormally big lacrimal glands.	http://purl.obolibrary.org/obo/HP_0007734		Enlarged tear gland
OBO:HP_0007736	obsolete Pericentral retinal dystrophy	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0007736		
OBO:HP_0007737	Bone spicule pigmentation of the retina	biolink:OntologyClass	hp	UMLS:C1836926	Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone).	http://purl.obolibrary.org/obo/HP_0007737		Bone corpuscle fundus pigmentation|Fundus with peripheral bony spicules|Retinal bone corpuscle pigmentation|Retinal pigmented bone spicules|Retinal 'bone corpuscle' pigmentation
OBO:HP_0007738	Uncontrolled eye movements	biolink:OntologyClass	hp	UMLS:C1854686		http://purl.obolibrary.org/obo/HP_0007738		
OBO:HP_0007739	obsolete Mildly reduced visual acuity	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0007739		
OBO:HP_0007740	Long eyelashes in irregular rows	biolink:OntologyClass	hp	UMLS:C1850640		http://purl.obolibrary.org/obo/HP_0007740		Long eyelashes in irregular rows
OBO:HP_0007744	obsolete Iridoretinal coloboma	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0007744		
OBO:HP_0007747	Monocular horizontal nystagmus	biolink:OntologyClass	hp	UMLS:C4024807		http://purl.obolibrary.org/obo/HP_0007747		
OBO:HP_0007748	obsolete Irido-fundal coloboma	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0007748		
OBO:HP_0007750	Hypoplasia of the fovea	biolink:OntologyClass	hp	UMLS:C2673946|UMLS:C4072863	Underdevelopment of the fovea centralis.	http://purl.obolibrary.org/obo/HP_0007750		Foveal hypoplasia|Dull foveal reflex
OBO:HP_0007754	Macular dystrophy	biolink:OntologyClass	hp	UMLS:C0730292	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.	http://purl.obolibrary.org/obo/HP_0007754	hposlim_core	
OBO:HP_0007755	Juvenile epithelial corneal dystrophy	biolink:OntologyClass	hp	MSH:D053559|SNOMEDCT_US:1674008|UMLS:C0339277		http://purl.obolibrary.org/obo/HP_0007755		
OBO:HP_0007756	obsolete Slitlike anterior chamber angles in children	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0007756		
OBO:HP_0007757	obsolete Hypoplasia of choroid	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0007757		
OBO:HP_0007758	obsolete Congenital visual impairment	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0007758		
OBO:HP_0007759	Opacification of the corneal stroma	biolink:OntologyClass	hp	SNOMEDCT_US:246957002|UMLS:C0423250|UMLS:C1856661	Reduced transparency of the stroma of cornea.	http://purl.obolibrary.org/obo/HP_0007759		Cloudy cornea|Corneal stromal opacity|Cloudy corneas
OBO:HP_0007760	Crystalline corneal dystrophy	biolink:OntologyClass	hp	MSH:C535475|SNOMEDCT_US:39662004|SNOMEDCT_US:419395007|UMLS:C0271287		http://purl.obolibrary.org/obo/HP_0007760		
OBO:HP_0007761	Pericentral scotoma	biolink:OntologyClass	hp	SNOMEDCT_US:404650002|UMLS:C1321308	A scotoma (area of diminished vision within the visual field) that surrounds the central fixation point.	http://purl.obolibrary.org/obo/HP_0007761		
OBO:HP_0007763	Retinal telangiectasia	biolink:OntologyClass	hp	SNOMEDCT_US:84884003|UMLS:C0154835	Dilatation of small blood vessels of the retina.	http://purl.obolibrary.org/obo/HP_0007763	hposlim_core	
OBO:HP_0007765	Deep anterior chamber	biolink:OntologyClass	hp	SNOMEDCT_US:246991003|UMLS:C0423280	Increased depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is increased.	http://purl.obolibrary.org/obo/HP_0007765		
OBO:HP_0007766	Optic disc hypoplasia	biolink:OntologyClass	hp	SNOMEDCT_US:373650004|UMLS:C1298695	Underdevelopment of the optic disc, that is of the optic nerve head, where ganglion cell axons exit the eye to form the optic nerve.	http://purl.obolibrary.org/obo/HP_0007766		Hypoplastic optic disks
OBO:HP_0007768	Central retinal vessel vascular tortuosity	biolink:OntologyClass	hp	UMLS:C4021569	The presence of an increased number of twists and turns of retinal blood vessels (arteries, arterioles, veins, venules).	http://purl.obolibrary.org/obo/HP_0007768		Tortuosity of main retinal vessels
OBO:HP_0007769	Peripheral retinal degeneration	biolink:OntologyClass	hp	SNOMEDCT_US:405721006|SNOMEDCT_US:61536007|UMLS:C1320640		http://purl.obolibrary.org/obo/HP_0007769		
OBO:HP_0007770	Hypoplasia of the retina	biolink:OntologyClass	hp	UMLS:C1854685		http://purl.obolibrary.org/obo/HP_0007770		Underdeveloped retina|Retinal hypoplasia
OBO:HP_0007772	Impaired smooth pursuit	biolink:OntologyClass	hp	UMLS:C1837458|UMLS:C1848530	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.	http://purl.obolibrary.org/obo/HP_0007772	hposlim_core	Abnormality of visual tracking|Impairment of visual pursuit|Abnormal visual pursuit
OBO:HP_0007773	Vitreoretinopathy	biolink:OntologyClass	hp	UMLS:C1850109	Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment.	http://purl.obolibrary.org/obo/HP_0007773		Vitreoretinal abnormality|Vitreoretinal degeneration
OBO:HP_0007774	Hypoplasia of the ciliary body	biolink:OntologyClass	hp	UMLS:C1836890	Underdevelopment of the ciliary body.	http://purl.obolibrary.org/obo/HP_0007774		
OBO:HP_0007776	Sparse lower eyelashes	biolink:OntologyClass	hp	UMLS:C1835148		http://purl.obolibrary.org/obo/HP_0007776		Scanty lower eyelashes|Sparse lower eyelashes|Thin lower eyelashes|Hypotrichosis of lower eyelashes|Partial absence of lower eyelashes
OBO:HP_0007777	Chorioretinal scar	biolink:OntologyClass	hp	SNOMEDCT_US:53854005|UMLS:C0008512	Fibrous connective tissue resulting from incomplete healing of a wound (i.e., a scar) located in the choroid and retina or the eye.	http://purl.obolibrary.org/obo/HP_0007777		
OBO:HP_0007778	Posterior retinal neovascularization	biolink:OntologyClass	hp	UMLS:C4024803	A type of retinal neovascularization that affects the posterior pole of the retina.	http://purl.obolibrary.org/obo/HP_0007778		Neovascularization of peripheral and posterior retina|Posterior retinal neovascularisation
OBO:HP_0007779	Anterior segment of eye aplasia	biolink:OntologyClass	hp	UMLS:C1853234		http://purl.obolibrary.org/obo/HP_0007779		
OBO:HP_0007780	Cortical pulverulent cataract	biolink:OntologyClass	hp	UMLS:C4021568	A type of cataract characterized by punctate, dust-like opacities within the cortical region of the lens.	http://purl.obolibrary.org/obo/HP_0007780		Cataracts, cortical pulverulent
OBO:HP_0007782	obsolete Peripheral retinal cone degeneration	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0007782		
OBO:HP_0007783	obsolete Butterfly retinal pigment epithelial dystrophy	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0007783		
OBO:HP_0007786	obsolete Lacunar retinal depigmentation	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0007786		
OBO:HP_0007787	Posterior subcapsular cataract	biolink:OntologyClass	hp	SNOMEDCT_US:315353005|UMLS:C0858617	A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule.	http://purl.obolibrary.org/obo/HP_0007787		Posterior subcapsular opacities of the lens|Posterior subcapsular cataracts
OBO:HP_0007791	Patchy atrophy of the retinal pigment epithelium	biolink:OntologyClass	hp	UMLS:C4024800	Wasting (atrophy) of the retinal pigment epithelium present in small, isolated areas.	http://purl.obolibrary.org/obo/HP_0007791		
OBO:HP_0007792	Microsaccadic pursuit	biolink:OntologyClass	hp	UMLS:C1843892		http://purl.obolibrary.org/obo/HP_0007792		
OBO:HP_0007793	Granular macular appearance	biolink:OntologyClass	hp	UMLS:C4024799	Mottled (spotted or blotched with different shades) pigmentary abnormality of the macula lutea.	http://purl.obolibrary.org/obo/HP_0007793		Macular retinal pigment epithelial mottling
OBO:HP_0007795	Anterior cortical cataract	biolink:OntologyClass	hp	UMLS:C1857308	A cataract that affects the anterior part of the cortex of the lens.	http://purl.obolibrary.org/obo/HP_0007795		
OBO:HP_0007797	Retinal vascular malformation	biolink:OntologyClass	hp	UMLS:C1861791		http://purl.obolibrary.org/obo/HP_0007797		
OBO:HP_0007798	obsolete Foveal dystrophy	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0007798		
OBO:HP_0007799	Conjunctival whitish salt-like deposits	biolink:OntologyClass	hp	UMLS:C1968901	The presence of whitish deposits in the conjunctiva resembling salt. May be related to calcinosis.	http://purl.obolibrary.org/obo/HP_0007799		
OBO:HP_0007800	Increased axial length of the globe	biolink:OntologyClass	hp	UMLS:C1835117	Abnormal largeness of the eye with an axial length > 2.5 standard deviations from population mean.	http://purl.obolibrary.org/obo/HP_0007800		Increased front to back length of eyeball|Globe elongated|Increased axial globe length
OBO:HP_0007801	obsolete Fishnet retinal pigmentation	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0007801		
OBO:HP_0007802	Granular corneal dystrophy	biolink:OntologyClass	hp	MSH:D003317|SNOMEDCT_US:45283008|UMLS:C0018179	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.	http://purl.obolibrary.org/obo/HP_0007802		
OBO:HP_0007803	Monochromacy	biolink:OntologyClass	hp	MSH:C536128|MSH:D003117|SNOMEDCT_US:56852002|UMLS:C0152200|UMLS:C1857618	Complete color blindness, a complete inability to distinguish colors. Affected persons cannot perceive colors, but only shades of gray.	http://purl.obolibrary.org/obo/HP_0007803		Total colorblindness|Complete achromatopsia
OBO:HP_0007807	Optic nerve compression	biolink:OntologyClass	hp	SNOMEDCT_US:72983001|UMLS:C0271344		http://purl.obolibrary.org/obo/HP_0007807		
OBO:HP_0007808	obsolete Bilateral retinal coloboma	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0007808		
OBO:HP_0007809	Punctate corneal dystrophy	biolink:OntologyClass	hp	UMLS:C4024796		http://purl.obolibrary.org/obo/HP_0007809		
OBO:HP_0007810	obsolete Progressive bifocal chorioretinal atrophy	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0007810		
OBO:HP_0007811	Horizontal pendular nystagmus	biolink:OntologyClass	hp	UMLS:C1866180	Nystagmus consisting of horizontal to-and-fro eye movements of equal velocity.	http://purl.obolibrary.org/obo/HP_0007811		
OBO:HP_0007812	Herpetiform corneal ulceration	biolink:OntologyClass	hp	UMLS:C4020911	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.	http://purl.obolibrary.org/obo/HP_0007812		Dendritic corneal epithelial ulcer|Herpetiform corneal ulcers
OBO:HP_0007813	Nongranulomatous uveitis	biolink:OntologyClass	hp	UMLS:C4024795	A form of uveitis that is not associated with the formation of granulomas.	http://purl.obolibrary.org/obo/HP_0007813		
OBO:HP_0007814	Retinal pigment epithelial mottling	biolink:OntologyClass	hp	UMLS:C1857644	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.	http://purl.obolibrary.org/obo/HP_0007814		RPE irregularity|RPE mottling|Focal hypopigmentation of the retinal pigment epithelium|Retinal pigment epithelium irregularity|Salt and pepper retinal pigmentation|Salt and pepper retinopathy
OBO:HP_0007815	Abnormal distribution of retinal arterioles and venules	biolink:OntologyClass	hp	UMLS:C3277463		http://purl.obolibrary.org/obo/HP_0007815		
OBO:HP_0007817	Horizontal supranuclear gaze palsy	biolink:OntologyClass	hp	UMLS:C4024794	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.	http://purl.obolibrary.org/obo/HP_0007817		
OBO:HP_0007818	Central heterochromia	biolink:OntologyClass	hp	UMLS:C4021567	The presence of distinct colors in the central (pupillary) zone of the iris than in the mid-peripheral (ciliary) zone.	http://purl.obolibrary.org/obo/HP_0007818		Ring iris heterochromia
OBO:HP_0007819	Presenile cataracts	biolink:OntologyClass	hp	SNOMEDCT_US:441622000|UMLS:C0154971	Presenile cataract is a kind of cataract that occurs in early adulthood, that is, at an age that is younger than usual.	http://purl.obolibrary.org/obo/HP_0007819		Presenile cataract
OBO:HP_0007820	Lacrimal punctal atresia	biolink:OntologyClass	hp	UMLS:C1863201	Congenital absence or closure of the opening of the lacrimal punctum.	http://purl.obolibrary.org/obo/HP_0007820		Atretic lacrimal puncta|Atretic lacrimal punctum
OBO:HP_0007822	Central retinal exudate	biolink:OntologyClass	hp	UMLS:C4024793		http://purl.obolibrary.org/obo/HP_0007822		
OBO:HP_0007824	Total ophthalmoplegia	biolink:OntologyClass	hp	SNOMEDCT_US:78097002|UMLS:C0155338	Paralysis of both the extrinsic and intrinsic ocular muscles.	http://purl.obolibrary.org/obo/HP_0007824		Complete ophthalmoplegia|Global paralysis of gaze|Total internal and external ophthalmoplegia
OBO:HP_0007825	obsolete Cataracts develop in second or third decade	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0007825		
OBO:HP_0007827	Nodular corneal dystrophy	biolink:OntologyClass	hp	UMLS:C4024792		http://purl.obolibrary.org/obo/HP_0007827		
OBO:HP_0007829	obsolete Diffuse retinal cone degeneration	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0007829		
OBO:HP_0007830	Adult-onset night blindness	biolink:OntologyClass	hp	UMLS:C4024790	Inability to see well at night or in poor light with onset in adulthood.	http://purl.obolibrary.org/obo/HP_0007830		Adult-onset night blindness
OBO:HP_0007831	Nonprogressive restrictive external ophthalmoplegia	biolink:OntologyClass	hp	UMLS:C4024789	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.	http://purl.obolibrary.org/obo/HP_0007831		
OBO:HP_0007832	Pigmentation of the sclera	biolink:OntologyClass	hp	UMLS:C1859882		http://purl.obolibrary.org/obo/HP_0007832		Pigmentation of the outer white part of the eyeball
OBO:HP_0007833	Anterior chamber synechiae	biolink:OntologyClass	hp	UMLS:C4024788		http://purl.obolibrary.org/obo/HP_0007833		
OBO:HP_0007834	Progressive cataract	biolink:OntologyClass	hp	UMLS:C4021566	A kind of cataract that progresses with age.	http://purl.obolibrary.org/obo/HP_0007834		Cataract, progressive
OBO:HP_0007835	S-shaped palpebral fissures	biolink:OntologyClass	hp	UMLS:C4024787		http://purl.obolibrary.org/obo/HP_0007835		S-shaped eyes|S-shaped opening between the eyelids
OBO:HP_0007836	Mosaic corneal dystrophy	biolink:OntologyClass	hp	UMLS:C4024786		http://purl.obolibrary.org/obo/HP_0007836		
OBO:HP_0007838	Progressive ptosis	biolink:OntologyClass	hp	UMLS:C1834015	A progressive form of ptosis.	http://purl.obolibrary.org/obo/HP_0007838		Progressive drooping of upper eyelid
OBO:HP_0007840	Long upper eyelashes	biolink:OntologyClass	hp	UMLS:C4024785	Increased length of the upper eyelashes.	http://purl.obolibrary.org/obo/HP_0007840		Increased length of upper eyelashes|Long upper eyelashes|Ciliary trichomegaly of upper eyelashes
OBO:HP_0007841	Amyloid deposition in the vitreous humor	biolink:OntologyClass	hp	UMLS:C4024784	Deposition of hyaline extracellular material (amyloid) into the vitreous humor, which can manifest as vitreous opacities and reduced visual acuity.	http://purl.obolibrary.org/obo/HP_0007841		Amyloid deposition in the vitreous humour|Vitreous amyloid deposits
OBO:HP_0007843	Attenuation of retinal blood vessels	biolink:OntologyClass	hp	UMLS:C3278975		http://purl.obolibrary.org/obo/HP_0007843		Narrowing of blood vessels in back of eye
OBO:HP_0007850	Retinal vascular proliferation	biolink:OntologyClass	hp	MSH:D015861|SNOMEDCT_US:61267008|UMLS:C0035320		http://purl.obolibrary.org/obo/HP_0007850		
OBO:HP_0007851	obsolete Temporal displacement of maculae	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0007851		
OBO:HP_0007852	obsolete Pericentral pigmentary retinopathy	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0007852		
OBO:HP_0007854	Glaucomatous visual field defect	biolink:OntologyClass	hp	SNOMEDCT_US:370961005|UMLS:C1299694		http://purl.obolibrary.org/obo/HP_0007854		
OBO:HP_0007856	Punctate opacification of the cornea	biolink:OntologyClass	hp	UMLS:C4021565	Punctate opacification (reduced transparency) of the corneal stroma.	http://purl.obolibrary.org/obo/HP_0007856		Punctate corneal opacities
OBO:HP_0007858	Chorioretinal lacunae	biolink:OntologyClass	hp	UMLS:C1844751|UMLS:C4072866	Punched out lesions in the pigmented layer of the retina.	http://purl.obolibrary.org/obo/HP_0007858	hposlim_core	Lacunar retinal depigmentation
OBO:HP_0007859	Congenital horizontal nystagmus	biolink:OntologyClass	hp	UMLS:C1866180	Horizontal nystagmus dating from or present at birth.	http://purl.obolibrary.org/obo/HP_0007859		Nystagmus, congenital horizontal
OBO:HP_0007862	Retinal calcification	biolink:OntologyClass	hp	UMLS:C1867289	Deposition of calcium salts in the retina.	http://purl.obolibrary.org/obo/HP_0007862		
OBO:HP_0007866	Retinal infarction	biolink:OntologyClass	hp	UMLS:C0281967		http://purl.obolibrary.org/obo/HP_0007866		
OBO:HP_0007867	Restrictive partial external ophthalmoplegia	biolink:OntologyClass	hp	UMLS:C4024781	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.	http://purl.obolibrary.org/obo/HP_0007867		
OBO:HP_0007868	obsolete Age-related macular degeneration	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0007868		
OBO:HP_0007869	obsolete Peripheral retinopathy	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0007869		
OBO:HP_0007872	Choroidal hemangioma	biolink:OntologyClass	hp	NCIT:C3086|SNOMEDCT_US:255022003|UMLS:C0346390	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.	http://purl.obolibrary.org/obo/HP_0007872		
OBO:HP_0007873	Abnormally prominent line of Schwalbe	biolink:OntologyClass	hp	UMLS:C1862376		http://purl.obolibrary.org/obo/HP_0007873		Prominent Schwalbe lines
OBO:HP_0007874	Almond-shaped palpebral fissure	biolink:OntologyClass	hp	UMLS:C4024780	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.	http://purl.obolibrary.org/obo/HP_0007874	hposlim_core	Almond shaped eyes|Almond-shaped opening between the eyelids
OBO:HP_0007875	Congenital blindness	biolink:OntologyClass	hp	SNOMEDCT_US:95486002|UMLS:C0005754	Blindness with onset at birth.	http://purl.obolibrary.org/obo/HP_0007875		Blindness present at birth|Congenital amaurosis
OBO:HP_0007876	obsolete Juvenile cortical cataract	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0007876		
OBO:HP_0007879	Allergic conjunctivitis	biolink:OntologyClass	hp	MSH:D003233|SNOMEDCT_US:231854006|SNOMEDCT_US:473460002|UMLS:C0009766	Allergic Conjunctivitis is an allergic inflammation of the conjunctiva.	http://purl.obolibrary.org/obo/HP_0007879		
OBO:HP_0007880	Marginal corneal dystrophy	biolink:OntologyClass	hp	UMLS:C4024779		http://purl.obolibrary.org/obo/HP_0007880		
OBO:HP_0007881	Central corneal dystrophy	biolink:OntologyClass	hp	UMLS:C4024778		http://purl.obolibrary.org/obo/HP_0007881		
OBO:HP_0007885	Slowed horizontal saccades	biolink:OntologyClass	hp	UMLS:C1856477	An abnormally slow velocity of horizontal saccadic eye movements.	http://purl.obolibrary.org/obo/HP_0007885		
OBO:HP_0007886	Absent extraocular muscles	biolink:OntologyClass	hp	UMLS:C1408781|UMLS:C4024777	Congenital absence of the extraocular muscles.	http://purl.obolibrary.org/obo/HP_0007886		Missing eye muscles|Absent ocular muscles
OBO:HP_0007889	Iridescent posterior subcapsular cataract	biolink:OntologyClass	hp	UMLS:C1864573	A type of posterior subcapsular cataract characterized by an iridescent color.	http://purl.obolibrary.org/obo/HP_0007889		Cataracts, posterior, subcapsular, iridescent
OBO:HP_0007892	Hypoplasia of the lacrimal punctum	biolink:OntologyClass	hp	UMLS:C4021564	Underdevelopment of the lacrimal puncta.	http://purl.obolibrary.org/obo/HP_0007892		Hypoplasia of the lacrimal puncta|Hypoplastic lacrimal puncta
OBO:HP_0007893	obsolete Progressive retinal degeneration	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0007893		
OBO:HP_0007894	Hypopigmentation of the fundus	biolink:OntologyClass	hp	SNOMEDCT_US:95694000|UMLS:C0151891	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).	http://purl.obolibrary.org/obo/HP_0007894		Decreased fundus pigmentation|Fundus hypopigmentation
OBO:HP_0007898	Exudative retinopathy	biolink:OntologyClass	hp	MSH:D058456|SNOMEDCT_US:25506007|SNOMEDCT_US:360455002|UMLS:C0154832		http://purl.obolibrary.org/obo/HP_0007898		
OBO:HP_0007899	Retinal nonattachment	biolink:OntologyClass	hp	UMLS:C4021563	Failure of attachment of the retina during development.	http://purl.obolibrary.org/obo/HP_0007899		Congenital retinal non-attachment
OBO:HP_0007900	Hypoplastic lacrimal duct	biolink:OntologyClass	hp	UMLS:C1968574		http://purl.obolibrary.org/obo/HP_0007900		Underdeveloped tear duct
OBO:HP_0007901	obsolete Retinal malformation	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0007901		
OBO:HP_0007902	Vitreous hemorrhage	biolink:OntologyClass	hp	MSH:D014823|SNOMEDCT_US:31341008|UMLS:C0042909	Bleeding within the vitreous compartment of the eye.	http://purl.obolibrary.org/obo/HP_0007902	hposlim_core	Vitreous haemorrhage
OBO:HP_0007903	Paravenous chorioretinal atrophy	biolink:OntologyClass	hp	UMLS:C4072868	Chorioretinal atrophy along the retinal veins.	http://purl.obolibrary.org/obo/HP_0007903		
OBO:HP_0007905	Abnormal iris vasculature	biolink:OntologyClass	hp	UMLS:C3275963		http://purl.obolibrary.org/obo/HP_0007905		Abnormality of iris blood vessels
OBO:HP_0007906	Ocular hypertension	biolink:OntologyClass	hp	SNOMEDCT_US:112222000|UMLS:C0234708	Intraocular pressure that is 2 standard deviations above the population mean.	http://purl.obolibrary.org/obo/HP_0007906		Elevated IOP|Increased IOP|Raised IOP|High eye pressure|Elevated intraocular pressure|Increased intraocular pressure|Raised intraocular pressure
OBO:HP_0007910	obsolete Nonprogressive congenital retinal dystrophy	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0007910		
OBO:HP_0007911	Congenital bilateral ptosis	biolink:OntologyClass	hp	UMLS:C1836264		http://purl.obolibrary.org/obo/HP_0007911		Congenital drooping of both upper eyelids|Ptosis, bilateral congenital|Ptosis, congenital bilateral
OBO:HP_0007913	Reticular retinal dystrophy	biolink:OntologyClass	hp	UMLS:C4024776	A type of of patterned retinal dystrophy that shows a reticular pattern of pigmentation.	http://purl.obolibrary.org/obo/HP_0007913		
OBO:HP_0007915	Polymorphous posterior corneal dystrophy	biolink:OntologyClass	hp	MSH:C562745|SNOMEDCT_US:29504002|UMLS:C0339284	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.	http://purl.obolibrary.org/obo/HP_0007915		
OBO:HP_0007916	obsolete Small anterior lens surface opacities	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0007916		
OBO:HP_0007917	Tractional retinal detachment	biolink:OntologyClass	hp	UMLS:C1866178	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.	http://purl.obolibrary.org/obo/HP_0007917		
OBO:HP_0007920	obsolete Congenital chorioretinal dystrophy	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0007920		
OBO:HP_0007922	Hypermyelinated retinal nerve fibers	biolink:OntologyClass	hp	UMLS:C1849151		http://purl.obolibrary.org/obo/HP_0007922		Hypermyelinated retinal nerve fibres|Retinal striation
OBO:HP_0007923	obsolete Foveal hyperplasia	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0007923		
OBO:HP_0007924	Slow decrease in visual acuity	biolink:OntologyClass	hp	UMLS:C1853141|UMLS:C3278981		http://purl.obolibrary.org/obo/HP_0007924		Slow decrease in sharpness of vision|Subacute deterioration of visual acuity|Decreased visual acuity, slowly progressive
OBO:HP_0007925	Lacrimal duct aplasia	biolink:OntologyClass	hp	UMLS:C4024773	A congenital defect resulting in absence of the lacrimal duct.	http://purl.obolibrary.org/obo/HP_0007925		Absent tear duct
OBO:HP_0007928	Abnormal flash visual evoked potentials	biolink:OntologyClass	hp	UMLS:C4024772	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.	http://purl.obolibrary.org/obo/HP_0007928		
OBO:HP_0007929	Peripheral retinal detachment	biolink:OntologyClass	hp	UMLS:C4024771	Separation of the inner layers of the retina (neural retina) from the pigment epithelium occuring near the outer limit (periphery) of the retina.	http://purl.obolibrary.org/obo/HP_0007929		
OBO:HP_0007930	obsolete Prominent epicanthal folds	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0007930		
OBO:HP_0007932	Bilateral congenital mydriasis	biolink:OntologyClass	hp	UMLS:C4024770	Congenital abnormal dilation of the pupil on both sides.	http://purl.obolibrary.org/obo/HP_0007932		
OBO:HP_0007933	Broad lateral eyebrow	biolink:OntologyClass	hp	UMLS:C1837733	Regional increase in the width (height) of the lateral eyebrow.	http://purl.obolibrary.org/obo/HP_0007933		Wide lateral eyebrow
OBO:HP_0007935	Juvenile posterior subcapsular lenticular opacities	biolink:OntologyClass	hp	UMLS:C1863408		http://purl.obolibrary.org/obo/HP_0007935		
OBO:HP_0007936	Restrictive external ophthalmoplegia	biolink:OntologyClass	hp	UMLS:C1865918|UMLS:C4020806	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.	http://purl.obolibrary.org/obo/HP_0007936		Restrictive ophthalmoplegia|Restrictive external ophthalmoplegia, bilateral
OBO:HP_0007937	Reticular pigmentary degeneration	biolink:OntologyClass	hp	UMLS:C4024769	A type of retinal reticular pigmentation that forms a polygonal, netlike arrangement of hyperpigmented lines forming geometric patterns in the fundus.	http://purl.obolibrary.org/obo/HP_0007937		Fishnet retinal pigmentation|Honeycomb retinal degeneration
OBO:HP_0007939	Blue cone monochromacy	biolink:OntologyClass	hp	MSH:C536238|SNOMEDCT_US:24704003|UMLS:C0339537	A form of monochromacy in which vision is derived from the remaining preserved blue (S) cones and rod photoreceptors.	http://purl.obolibrary.org/obo/HP_0007939		Blue cone monochromatism|Incomplete achromatopsia|S-cone monochromacy
OBO:HP_0007941	Limited extraocular movements	biolink:OntologyClass	hp	UMLS:C1858427		http://purl.obolibrary.org/obo/HP_0007941		Limited extraocular movement
OBO:HP_0007942	Internal ophthalmoplegia	biolink:OntologyClass	hp	MSH:D009886|SNOMEDCT_US:232146005|UMLS:C0339693	Paralysis of the iris and ciliary apparatus.	http://purl.obolibrary.org/obo/HP_0007942		
OBO:HP_0007943	Congenital stapes ankylosis	biolink:OntologyClass	hp	UMLS:C1866657	A form of stapes ankylosis with congenital onset.	http://purl.obolibrary.org/obo/HP_0007943		
OBO:HP_0007944	Intermittent microsaccadic pursuits	biolink:OntologyClass	hp	UMLS:C4024768		http://purl.obolibrary.org/obo/HP_0007944		
OBO:HP_0007945	obsolete Choroidal degeneration	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0007945		
OBO:HP_0007946	Unilateral narrow palpebral fissure	biolink:OntologyClass	hp	UMLS:C1866805|UMLS:C4280419	A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures on one side only.	http://purl.obolibrary.org/obo/HP_0007946		Unequal size of opening between the eyelids|Narrow palpebral fissure, unilateral
OBO:HP_0007947	Pericentral retinitis pigmentosa	biolink:OntologyClass	hp	MSH:C564838|UMLS:C1849398	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.	http://purl.obolibrary.org/obo/HP_0007947		
OBO:HP_0007948	Dense posterior cortical cataract	biolink:OntologyClass	hp	UMLS:C4024767	A type of posterior cortical cataract characterized by dense lenticular opacities.	http://purl.obolibrary.org/obo/HP_0007948		
OBO:HP_0007949	obsolete Progressive macular scarring	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0007949		
OBO:HP_0007950	Peripapillary chorioretinal atrophy	biolink:OntologyClass	hp	UMLS:C4024765	Chorioretinal atrophy concentrated around the optic papilla (i.e., the optic nerve head).	http://purl.obolibrary.org/obo/HP_0007950		
OBO:HP_0007956	obsolete Bilateral choroid coloboma	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0007956		
OBO:HP_0007957	Corneal opacity	biolink:OntologyClass	hp	MSH:D003318|SNOMEDCT_US:413921009|SNOMEDCT_US:64634000|SNOMEDCT_US:95735008|UMLS:C0010038|UMLS:C0521719	A reduction of corneal clarity.	http://purl.obolibrary.org/obo/HP_0007957	hposlim_core	Corneal clouding|Corneal opacities|Reduction of corneal clarity|Scarring or clouding of the cornea of the eye
OBO:HP_0007958	Optic atrophy from cranial nerve compression	biolink:OntologyClass	hp	UMLS:C4024763		http://purl.obolibrary.org/obo/HP_0007958		
OBO:HP_0007961	obsolete Rarefaction of retinal pigmentation	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0007961		
OBO:HP_0007962	Speckled corneal dystrophy	biolink:OntologyClass	hp	UMLS:C4021857		http://purl.obolibrary.org/obo/HP_0007962		
OBO:HP_0007963	Pattern dystrophy of the retina	biolink:OntologyClass	hp	UMLS:C4024762	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).	http://purl.obolibrary.org/obo/HP_0007963		
OBO:HP_0007964	Degenerative vitreoretinopathy	biolink:OntologyClass	hp	UMLS:C1843486		http://purl.obolibrary.org/obo/HP_0007964		
OBO:HP_0007965	Undetectable visual evoked potentials	biolink:OntologyClass	hp	UMLS:C1850069		http://purl.obolibrary.org/obo/HP_0007965		Absence of visual evoked potentials|Non-detectable VEP|Undetectable VEP
OBO:HP_0007968	Remnants of the hyaloid vascular system	biolink:OntologyClass	hp	MSH:D054514|SNOMEDCT_US:314270008|SNOMEDCT_US:44647001|SNOMEDCT_US:69927002|UMLS:C0266568	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.	http://purl.obolibrary.org/obo/HP_0007968	hposlim_core	Congenital retinal septum|Persistent fetal vasculature|Persistent hyperplasia of primary vitreous|Persistent hyperplastic primary vitreous|Persistent hypertrophic primary vitreous|Persistent posterior fetal fibrovascular sheath of the lens|Persistent tunica vasculosa lentis
OBO:HP_0007970	Congenital ptosis	biolink:OntologyClass	hp	SNOMEDCT_US:268163008|SNOMEDCT_US:61989004|UMLS:C0266573		http://purl.obolibrary.org/obo/HP_0007970		Congenital drooping upper eyelid
OBO:HP_0007971	Lamellar cataract	biolink:OntologyClass	hp	SNOMEDCT_US:204128001|SNOMEDCT_US:21590003|UMLS:C0266537	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.	http://purl.obolibrary.org/obo/HP_0007971		
OBO:HP_0007973	Retinal dysplasia	biolink:OntologyClass	hp	MSH:D015792|SNOMEDCT_US:95494009|UMLS:C0035313	The presence of developmental dysplasia of the retina.	http://purl.obolibrary.org/obo/HP_0007973	hposlim_core	Retinal dysgenesis
OBO:HP_0007975	Hypometric horizontal saccades	biolink:OntologyClass	hp	UMLS:C1856478	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.	http://purl.obolibrary.org/obo/HP_0007975		
OBO:HP_0007976	Cerulean cataract	biolink:OntologyClass	hp	MSH:C537955|SNOMEDCT_US:204138006|UMLS:C0344523	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.	http://purl.obolibrary.org/obo/HP_0007976		Cataracts, congenital, cerulean
OBO:HP_0007979	Gaze-evoked horizontal nystagmus	biolink:OntologyClass	hp	UMLS:C1853394	Horizontal nystagmus made apparent by looking to the right or to the left.	http://purl.obolibrary.org/obo/HP_0007979		Nystagmus, horizontal, gaze-evoked|Nystagmus, horizontal gaze-evoked
OBO:HP_0007980	Absent retinal pigment epithelium	biolink:OntologyClass	hp	UMLS:C1852548		http://purl.obolibrary.org/obo/HP_0007980		
OBO:HP_0007981	obsolete Concentric narrowing of visual field	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0007981		
OBO:HP_0007982	obsolete Central tapetoretinal dystrophy	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0007982		
OBO:HP_0007984	Electronegative electroretinogram	biolink:OntologyClass	hp	UMLS:C4021561	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).	http://purl.obolibrary.org/obo/HP_0007984		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
OBO:HP_0007985	Retinal arteriolar occlusion	biolink:OntologyClass	hp	UMLS:C4024761	Blockage of retinal arteriole, generally associated with interruption of blood flow and oxygen delivery to affected regions of the retina.	http://purl.obolibrary.org/obo/HP_0007985		Blocked retinal artery
OBO:HP_0007986	Increased retinal vascularity	biolink:OntologyClass	hp	UMLS:C1847882		http://purl.obolibrary.org/obo/HP_0007986		
OBO:HP_0007987	Progressive visual field defects	biolink:OntologyClass	hp	UMLS:C4024760		http://purl.obolibrary.org/obo/HP_0007987		
OBO:HP_0007988	Macular hypopigmentation	biolink:OntologyClass	hp	UMLS:C4024759	Decreased amount of pigmentation in the macula lutea.	http://purl.obolibrary.org/obo/HP_0007988		
OBO:HP_0007989	Intraretinal exudate	biolink:OntologyClass	hp	UMLS:C4024758	Retinal exudate within the retinal tissue itself.	http://purl.obolibrary.org/obo/HP_0007989		
OBO:HP_0007990	Hypoplastic iris stroma	biolink:OntologyClass	hp	UMLS:C1860344	Underdevelopment of the stroma of iris.	http://purl.obolibrary.org/obo/HP_0007990		Hypoplastic iris stoma|Iris stromal hypoplasia|Underdeveloped iris stroma
OBO:HP_0007992	Lattice retinal degeneration	biolink:OntologyClass	hp	SNOMEDCT_US:3577000|UMLS:C0154856		http://purl.obolibrary.org/obo/HP_0007992		
OBO:HP_0007993	Malformed lacrimal duct	biolink:OntologyClass	hp	UMLS:C4024757	Congenital malformation of the lacrimal duct associated with incomplete development of the bony nasolacrimal canal or craniofacial anomalies.	http://purl.obolibrary.org/obo/HP_0007993		Malformed tear ducts
OBO:HP_0007994	Peripheral visual field loss	biolink:OntologyClass	hp	SNOMEDCT_US:420990001|UMLS:C0241688|UMLS:C2937228	Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision.	http://purl.obolibrary.org/obo/HP_0007994		Loss of peripheral vision|Tunnel vision|Kalnienk vision
OBO:HP_0008000	Decreased corneal reflex	biolink:OntologyClass	hp	MSH:D012021|SNOMEDCT_US:103254005|UMLS:C0151572	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.	http://purl.obolibrary.org/obo/HP_0008000		Decreased blink reflex|Reduced corneal reflex
OBO:HP_0008001	Foveal hyperpigmentation	biolink:OntologyClass	hp	UMLS:C3809301	Increased amount of pigmentation in the fovea centralis.	http://purl.obolibrary.org/obo/HP_0008001		
OBO:HP_0008002	Abnormality of macular pigmentation	biolink:OntologyClass	hp	UMLS:C1837087|UMLS:C4024756	Abnormality of macular or foveal pigmentation.	http://purl.obolibrary.org/obo/HP_0008002	hposlim_core	Macular pigmentary changes
OBO:HP_0008003	Jerky ocular pursuit movements	biolink:OntologyClass	hp	UMLS:C1853558		http://purl.obolibrary.org/obo/HP_0008003		Jerky smooth pursuit
OBO:HP_0008005	Congenital corneal dystrophy	biolink:OntologyClass	hp	UMLS:C1611195		http://purl.obolibrary.org/obo/HP_0008005		
OBO:HP_0008007	Primary congenital glaucoma	biolink:OntologyClass	hp	SNOMEDCT_US:415176004|UMLS:C1533041		http://purl.obolibrary.org/obo/HP_0008007		
OBO:HP_0008008	obsolete Progressive central visual loss	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0008008		
OBO:HP_0008009	Three rows of eyelashes	biolink:OntologyClass	hp	UMLS:C1860785		http://purl.obolibrary.org/obo/HP_0008009		Three rows of eyelashes|Triple row of eyelashes
OBO:HP_0008011	Peripheral opacification of the cornea	biolink:OntologyClass	hp	SNOMEDCT_US:55713007|UMLS:C0155100	Reduced transparency of the peripheral region of the cornea.	http://purl.obolibrary.org/obo/HP_0008011		Peripheral corneal opacity
OBO:HP_0008012	obsolete Congenital myopia	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0008012		
OBO:HP_0008014	Central fundal arteriolar microaneurysms	biolink:OntologyClass	hp	UMLS:C4024755	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.	http://purl.obolibrary.org/obo/HP_0008014		
OBO:HP_0008017	obsolete Depigmented lesions of the retinal pigment epithelium	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0008017		
OBO:HP_0008019	Superior lens subluxation	biolink:OntologyClass	hp	UMLS:C2036843	Partial dislocation of the lens in a superior direction.	http://purl.obolibrary.org/obo/HP_0008019		Superior subluxated lens
OBO:HP_0008020	Cone dystrophy	biolink:OntologyClass	hp	UMLS:C0730290|UMLS:C3665342	Inherited progressive cone degeneration.	http://purl.obolibrary.org/obo/HP_0008020		Progressive cone degeneration|Progressive cone dystrophy
OBO:HP_0008024	obsolete Congenital nuclear cataract	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0008024		
OBO:HP_0008026	Horizontal opticokinetic nystagmus	biolink:OntologyClass	hp	UMLS:C4024754		http://purl.obolibrary.org/obo/HP_0008026		
OBO:HP_0008028	Cystoid macular degeneration	biolink:OntologyClass	hp	SNOMEDCT_US:14046000|UMLS:C0154850	A form of macular degeneration characterized by the presence of multiple cysts in the macula.	http://purl.obolibrary.org/obo/HP_0008028		Cystic macular degeneration
OBO:HP_0008030	Retinal arteritis	biolink:OntologyClass	hp	SNOMEDCT_US:11255009|UMLS:C0271069		http://purl.obolibrary.org/obo/HP_0008030		
OBO:HP_0008031	Posterior Y-sutural cataract	biolink:OntologyClass	hp	UMLS:C4021560	A type of sutural cataract in which the opacity follows the posterior Y suture.	http://purl.obolibrary.org/obo/HP_0008031		Posterior Y-sutural cataracts
OBO:HP_0008033	obsolete Congenital exotropia	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0008033		
OBO:HP_0008034	Abnormal iris pigmentation	biolink:OntologyClass	hp	UMLS:C1834387	Abnormal pigmentation of the iris.	http://purl.obolibrary.org/obo/HP_0008034	hposlim_core	
OBO:HP_0008035	Retinitis pigmentosa inversa	biolink:OntologyClass	hp	UMLS:C4021559	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).	http://purl.obolibrary.org/obo/HP_0008035		Central retinitis pigmentosa
OBO:HP_0008036	obsolete Rod-cone dystrophy	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0008036		
OBO:HP_0008037	Absent anterior chamber of the eye	biolink:OntologyClass	hp	SNOMEDCT_US:404675003|SNOMEDCT_US:55457007|UMLS:C0271004	Absence of the anterior chamber of the eye owing to a developmental defect.	http://purl.obolibrary.org/obo/HP_0008037		
OBO:HP_0008038	Aplastic/hypoplastic lacrimal glands	biolink:OntologyClass	hp	UMLS:C1835602	Absence or underdevelopment of the lacrimal gland.	http://purl.obolibrary.org/obo/HP_0008038		Absent/underdeveloped tear glands|Absent/underdeveloped lacrimal glands
OBO:HP_0008039	Subepithelial corneal opacities	biolink:OntologyClass	hp	UMLS:C1857307		http://purl.obolibrary.org/obo/HP_0008039		
OBO:HP_0008041	Late onset congenital glaucoma	biolink:OntologyClass	hp	UMLS:C1856441		http://purl.obolibrary.org/obo/HP_0008041		
OBO:HP_0008043	Retinal arteriolar constriction	biolink:OntologyClass	hp	UMLS:C2176208	Decreased retinal arteriolar diameters, which may decrease blood flow and slow oxygen delivery to regions of the retina.	http://purl.obolibrary.org/obo/HP_0008043		Constricted retinal arterioles|Narrow retinal arterioles|Retinal arteriolar narrowing
OBO:HP_0008045	Enlarged flash visual evoked potentials	biolink:OntologyClass	hp	UMLS:C4021558		http://purl.obolibrary.org/obo/HP_0008045		High flash visual evoked potentials
OBO:HP_0008046	Abnormal retinal vascular morphology	biolink:OntologyClass	hp	UMLS:C4024753	A structural abnormality of retinal vasculature.	http://purl.obolibrary.org/obo/HP_0008046		Abnormality of retina blood vessels|Abnormality of the retinal vasculature
OBO:HP_0008047	Abnormality of the vasculature of the eye	biolink:OntologyClass	hp	UMLS:C4024752		http://purl.obolibrary.org/obo/HP_0008047		Abnormality of eye blood vessels
OBO:HP_0008048	Abnormality of the line of Schwalbe	biolink:OntologyClass	hp	UMLS:C4021856	An abnormality of the line of Schwalbe.	http://purl.obolibrary.org/obo/HP_0008048		
OBO:HP_0008049	Abnormality of the extraocular muscles	biolink:OntologyClass	hp	UMLS:C4024751	An abnormality of an extraocular muscle.	http://purl.obolibrary.org/obo/HP_0008049		
OBO:HP_0008050	Abnormality of the palpebral fissures	biolink:OntologyClass	hp	UMLS:C4024750	An anomaly of the space between the medial and lateral canthi of the two open eyelids.	http://purl.obolibrary.org/obo/HP_0008050		Abnormality of the opening between the eyelids|Abnormality of the palpebral fissures|Deformity of the palpebral fissures|Malformation of the palpebral fissures
OBO:HP_0008051	obsolete Abnormality of the retinal pigment epithelium	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0008051		
OBO:HP_0008052	Retinal fold	biolink:OntologyClass	hp	SNOMEDCT_US:37480005|UMLS:C0229197	A wrinkle of retinal tissue projecting outward from the surface of the retina and visible as a line on fundoscopy.	http://purl.obolibrary.org/obo/HP_0008052		Retinal folds
OBO:HP_0008053	Aplasia/Hypoplasia of the iris	biolink:OntologyClass	hp	UMLS:C4024748	Absence or underdevelopment of the iris.	http://purl.obolibrary.org/obo/HP_0008053		Absent/small iris|Absent/underdeveloped iris
OBO:HP_0008054	Abnormal morphology of the conjunctival vasculature	biolink:OntologyClass	hp	UMLS:C4024747	Any abnormality of the blood vessels of the conjunctiva.	http://purl.obolibrary.org/obo/HP_0008054		Abnormal morphology of the conjunctiva vasculature|Abnormal vasculature of the conjunctiva morphology|Abnormality of the vasculature of the conjunctiva
OBO:HP_0008055	Aplasia/Hypoplasia affecting the uvea	biolink:OntologyClass	hp	UMLS:C4024746	Absence or underdevelopment of the uvea, the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid.	http://purl.obolibrary.org/obo/HP_0008055		Absent/underdeveloped uvea
OBO:HP_0008056	Aplasia/Hypoplasia affecting the eye	biolink:OntologyClass	hp	UMLS:C4024745		http://purl.obolibrary.org/obo/HP_0008056		Absent/small eye|Absent/underdeveloped eye
OBO:HP_0008057	Aplasia/Hypoplasia affecting the fundus	biolink:OntologyClass	hp	UMLS:C4024744		http://purl.obolibrary.org/obo/HP_0008057		Absent/small fundus
OBO:HP_0008058	Aplasia/Hypoplasia of the optic nerve	biolink:OntologyClass	hp	UMLS:C4024743		http://purl.obolibrary.org/obo/HP_0008058		Absent/small optic nerve|Absent/underdeveloped optic nerve
OBO:HP_0008059	Aplasia/Hypoplasia of the macula	biolink:OntologyClass	hp	UMLS:C4024742		http://purl.obolibrary.org/obo/HP_0008059		Absent/underdeveloped macula
OBO:HP_0008060	Aplasia/Hypoplasia of the fovea	biolink:OntologyClass	hp	UMLS:C4024741	Congenital absence or underdevelopment of the fovea centralis.	http://purl.obolibrary.org/obo/HP_0008060		Absent/underdeveloped fovea
OBO:HP_0008061	Aplasia/Hypoplasia of the retina	biolink:OntologyClass	hp	UMLS:C4024740		http://purl.obolibrary.org/obo/HP_0008061		Absent/small retina|Absent/underdeveloped retina
OBO:HP_0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	biolink:OntologyClass	hp	UMLS:C4024739	Absence or underdevelopment of the anterior segment of the eye.	http://purl.obolibrary.org/obo/HP_0008062		
OBO:HP_0008063	Aplasia/Hypoplasia of the lens	biolink:OntologyClass	hp	UMLS:C4024738	Absence or underdevelopment of the lens.	http://purl.obolibrary.org/obo/HP_0008063		Absent/small lens|Absent/underdeveloped lens
OBO:HP_0008064	Ichthyosis	biolink:OntologyClass	hp	MEDDRA:10021198|MSH:D007057|UMLS:C0020757	An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.	http://purl.obolibrary.org/obo/HP_0008064	hposlim_core	Ichthyosiform abnormality of the skin|Ichthyotic skin|Hypertrophic ichthyosis
OBO:HP_0008065	Aplasia/Hypoplasia of the skin	biolink:OntologyClass	hp	UMLS:C4024737		http://purl.obolibrary.org/obo/HP_0008065		Absent/small skin|Absent/underdeveloped skin
OBO:HP_0008066	Abnormal blistering of the skin	biolink:OntologyClass	hp	UMLS:C0241054|UMLS:C2132198|UMLS:C2220104	The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.	http://purl.obolibrary.org/obo/HP_0008066		Abnormal blistering of the skin|Blistering, generalized|Blisters|Skin blisters|Blister|Skin bullae
OBO:HP_0008067	Abnormally lax or hyperextensible skin	biolink:OntologyClass	hp	UMLS:C4024736		http://purl.obolibrary.org/obo/HP_0008067		Abnormally loose or hyperelastic skin|Abnormally loose or stretchable skin
OBO:HP_0008069	Neoplasm of the skin	biolink:OntologyClass	hp	MSH:D012878|NCIT:C3262|SNOMEDCT_US:126488004|SNOMEDCT_US:372130007|UMLS:C0007114|UMLS:C0037286	A tumor (abnormal growth of tissue) of the skin.	http://purl.obolibrary.org/obo/HP_0008069	hposlim_core	Skin cancer (non-melanoma)|Skin tumors|Tumor of the skin|Skin cancer|Dermatological tumors|Neoplasia of the skin
OBO:HP_0008070	Sparse hair	biolink:OntologyClass	hp	MEDDRA:10021126|MSH:D007039|SNOMEDCT_US:53602002|SNOMEDCT_US:56558005|UMLS:C0020678|UMLS:C1837770|UMLS:C1860844	Reduced density of hairs.	http://purl.obolibrary.org/obo/HP_0008070	hposlim_core	Sparse hair|Thin, sparse hair|Decreased hair growth|Decreased hair growth on body|Hypotrichosis|Marked hypotrichosis|Sparse hair since birth
OBO:HP_0008071	Maternal hypertension	biolink:OntologyClass	hp	SNOMEDCT_US:288250001|UMLS:C0565599	Increased blood pressure during a pregnancy.	http://purl.obolibrary.org/obo/HP_0008071		
OBO:HP_0008072	Maternal virilization in pregnancy	biolink:OntologyClass	hp	UMLS:C4024735	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.	http://purl.obolibrary.org/obo/HP_0008072		
OBO:HP_0008073	Low maternal serum estriol	biolink:OntologyClass	hp	UMLS:C4024734	An abnormally high concentration of serum conjugated estriol as compared to normal values for gestational-age.	http://purl.obolibrary.org/obo/HP_0008073		Low maternal serum estriol
OBO:HP_0008074	Metatarsal periosteal thickening	biolink:OntologyClass	hp	UMLS:C1834349		http://purl.obolibrary.org/obo/HP_0008074		
OBO:HP_0008075	Progressive pes cavus	biolink:OntologyClass	hp	UMLS:C1846017	The development of Pes cavus that is progressive with age.	http://purl.obolibrary.org/obo/HP_0008075		
OBO:HP_0008076	Osteoporotic tarsals	biolink:OntologyClass	hp	UMLS:C1836872	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.	http://purl.obolibrary.org/obo/HP_0008076		
OBO:HP_0008078	Thin metatarsal cortices	biolink:OntologyClass	hp	UMLS:C1850162		http://purl.obolibrary.org/obo/HP_0008078		
OBO:HP_0008079	Absent fifth metatarsal	biolink:OntologyClass	hp	UMLS:C1867932	A developmental abnormality characterized by the absence of the fifth metatarsal bone.	http://purl.obolibrary.org/obo/HP_0008079		Absent 5th long bone of foot|Absent 5th metatarsals|Aplasia of the fifth metatarsal bone
OBO:HP_0008080	Hallux varus	biolink:OntologyClass	hp	MSH:D050488|SNOMEDCT_US:274147008|UMLS:C0546297	Medial deviation of the great toe owing to a deformity of the great toe joint causing the hallux to deviate medially.	http://purl.obolibrary.org/obo/HP_0008080		Medially deviated halluces
OBO:HP_0008081	Pes valgus	biolink:OntologyClass	hp	SNOMEDCT_US:249803006|SNOMEDCT_US:275344002|UMLS:C1578482	An outward deviation of the foot at the talocalcaneal or subtalar joint.	http://purl.obolibrary.org/obo/HP_0008081		Valgus foot deformity
OBO:HP_0008082	Medial deviation of the foot	biolink:OntologyClass	hp	UMLS:C2673401		http://purl.obolibrary.org/obo/HP_0008082		
OBO:HP_0008083	2nd-5th toe middle phalangeal hypoplasia	biolink:OntologyClass	hp	UMLS:C1861376		http://purl.obolibrary.org/obo/HP_0008083		Underdeveloped 2nd-5th middle toe bones
OBO:HP_0008087	Nonossified fifth metatarsal	biolink:OntologyClass	hp	UMLS:C1844712	The presence of a fifth metatarsal bone that has not undergone ossification at an age when ossification is usually visible.	http://purl.obolibrary.org/obo/HP_0008087		
OBO:HP_0008089	Abnormality of the fifth metatarsal bone	biolink:OntologyClass	hp	UMLS:C4024733	An anomaly of the fifth metatarsal bone.	http://purl.obolibrary.org/obo/HP_0008089		Abnormality of the 5th long bone of foot
OBO:HP_0008090	Ankylosis of feet small joints	biolink:OntologyClass	hp	UMLS:C4024732		http://purl.obolibrary.org/obo/HP_0008090		
OBO:HP_0008093	Short 4th toe	biolink:OntologyClass	hp	UMLS:C1862083	Underdevelopment (hypoplasia) of the fourth toe.	http://purl.obolibrary.org/obo/HP_0008093		Short 4th toe|Short fourth toe
OBO:HP_0008094	Widely spaced toes	biolink:OntologyClass	hp	UMLS:C1969238	An overall widening of the spaces between the digits.	http://purl.obolibrary.org/obo/HP_0008094		Widely spaced toes
OBO:HP_0008095	Osteolysis of talus	biolink:OntologyClass	hp	UMLS:C4021556	Osteolysis affecting the talus.	http://purl.obolibrary.org/obo/HP_0008095		Osteolysis of tali
OBO:HP_0008096	Medially deviated second toe	biolink:OntologyClass	hp	UMLS:C1862147	Medial deviation of the second toe.	http://purl.obolibrary.org/obo/HP_0008096		
OBO:HP_0008097	Partial fusion of tarsals	biolink:OntologyClass	hp	UMLS:C1844520		http://purl.obolibrary.org/obo/HP_0008097		
OBO:HP_0008102	Expanded metatarsals with widened medullary cavities	biolink:OntologyClass	hp	UMLS:C1969289		http://purl.obolibrary.org/obo/HP_0008102		
OBO:HP_0008103	Delayed tarsal ossification	biolink:OntologyClass	hp	UMLS:C1846853|UMLS:C4280418	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.	http://purl.obolibrary.org/obo/HP_0008103		Delayed ankle bone maturation|Tarsal delayed ossification
OBO:HP_0008107	Plantar crease between first and second toes	biolink:OntologyClass	hp	UMLS:C1867132	The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot located between the first and second toe.	http://purl.obolibrary.org/obo/HP_0008107		
OBO:HP_0008108	Advanced tarsal ossification	biolink:OntologyClass	hp	UMLS:C1849293|UMLS:C4280417	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.	http://purl.obolibrary.org/obo/HP_0008108		Accelerated ankle bone maturation|Precociously ossified tarsal bones
OBO:HP_0008110	Equinovarus deformity	biolink:OntologyClass	hp	MSH:D003025|SNOMEDCT_US:249808002|SNOMEDCT_US:397932003|UMLS:C0009081		http://purl.obolibrary.org/obo/HP_0008110		
OBO:HP_0008111	Broad distal hallux	biolink:OntologyClass	hp	UMLS:C1863403		http://purl.obolibrary.org/obo/HP_0008111		Broad distal big toe
OBO:HP_0008112	Plantar flexion contractures	biolink:OntologyClass	hp	UMLS:C1861239		http://purl.obolibrary.org/obo/HP_0008112		
OBO:HP_0008113	Multiple plantar creases	biolink:OntologyClass	hp	UMLS:C1861873		http://purl.obolibrary.org/obo/HP_0008113		
OBO:HP_0008114	Metatarsal diaphyseal endosteal sclerosis	biolink:OntologyClass	hp	UMLS:C1840420	Osteosclerosis of the endosteal surface of the diaphyses (shafts) of the metatarsal bones.	http://purl.obolibrary.org/obo/HP_0008114		
OBO:HP_0008115	Clinodactyly of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4021555|UMLS:C4280416	Bending or curvature of a third toe in the tibial direction (i.e., towards the big toe).	http://purl.obolibrary.org/obo/HP_0008115		Curvature of 3rd toe|3rd toe clinodactyly
OBO:HP_0008116	Flexion limitation of toes	biolink:OntologyClass	hp	UMLS:C4024731	Limitation of the ability to bend the toes.	http://purl.obolibrary.org/obo/HP_0008116		
OBO:HP_0008117	Shortening of the talar neck	biolink:OntologyClass	hp	UMLS:C1843985		http://purl.obolibrary.org/obo/HP_0008117		
OBO:HP_0008119	Deformed tarsal bones	biolink:OntologyClass	hp	UMLS:C1856746		http://purl.obolibrary.org/obo/HP_0008119		Deformed ankle bones
OBO:HP_0008122	Calcaneonavicular fusion	biolink:OntologyClass	hp	UMLS:C4024730	Synostosis of the calcaneus with the navicular bone.	http://purl.obolibrary.org/obo/HP_0008122		
OBO:HP_0008124	Talipes calcaneovarus	biolink:OntologyClass	hp	MSH:D000070558|SNOMEDCT_US:30449003|UMLS:C0265646	A congenital deformity characterized by a dorsiflexed, inverted, and adducted foot, i.e., a combination of talipes calcaneus and talipes varus.	http://purl.obolibrary.org/obo/HP_0008124		
OBO:HP_0008125	Second metatarsal posteriorly placed	biolink:OntologyClass	hp	UMLS:C1859224		http://purl.obolibrary.org/obo/HP_0008125		
OBO:HP_0008127	Bipartite calcaneus	biolink:OntologyClass	hp	UMLS:C1835574	A two-part calcaneus, a finding that probably results from delayed coalescence of two primary calcaneal centers of ossification.	http://purl.obolibrary.org/obo/HP_0008127		Delayed coalescence of bipartite calcanei|Delayed coalescence of calcaneal ossification centers|Delayed fusion of bipartite calcanei|Double calcaneal ossification center|Extra calcaneal ossification center
OBO:HP_0008131	Tarsal stippling	biolink:OntologyClass	hp	UMLS:C1844848	The presence of abnormal punctate (speckled, dot-like) calcifications in one or more tarsal bones.	http://purl.obolibrary.org/obo/HP_0008131		Punctate calcifications of tarsals|Punctate tarsal calcification
OBO:HP_0008132	Medial rotation of the medial malleolus	biolink:OntologyClass	hp	UMLS:C3805726		http://purl.obolibrary.org/obo/HP_0008132		
OBO:HP_0008133	Distal tapering of metatarsals	biolink:OntologyClass	hp	UMLS:C4024729		http://purl.obolibrary.org/obo/HP_0008133		
OBO:HP_0008134	Irregular tarsal ossification	biolink:OntologyClass	hp	UMLS:C4021554|UMLS:C4280415	Defective ossification in an irregular pattern of the seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.	http://purl.obolibrary.org/obo/HP_0008134		Irregular ankle bone maturation|Irregular tarsal centers
OBO:HP_0008138	Equinus calcaneus	biolink:OntologyClass	hp	UMLS:C1860449	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.	http://purl.obolibrary.org/obo/HP_0008138		Equinus deformity of the calcaneus|Hindfoot equinus
OBO:HP_0008141	Dislocation of toes	biolink:OntologyClass	hp	SNOMEDCT_US:263030002|UMLS:C0434717		http://purl.obolibrary.org/obo/HP_0008141		Dislocation of toes
OBO:HP_0008142	Delayed calcaneal ossification	biolink:OntologyClass	hp	UMLS:C4024728|UMLS:C4280414	Delayed maturation and calcification of the calcaneus.	http://purl.obolibrary.org/obo/HP_0008142		Delayed heel bone maturation
OBO:HP_0008144	Flattening of the talar dome	biolink:OntologyClass	hp	UMLS:C1843986		http://purl.obolibrary.org/obo/HP_0008144		
OBO:HP_0008148	Impaired epinephrine-induced platelet aggregation	biolink:OntologyClass	hp	UMLS:C4024727	Abnormal response to epinephrine as manifested by reduced or lacking aggregation of platelets upon addition of epinephrine.	http://purl.obolibrary.org/obo/HP_0008148		
OBO:HP_0008150	Elevated serum transaminases during infections	biolink:OntologyClass	hp	UMLS:C1864179	Elevations of the levels of SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) that occur during infections.	http://purl.obolibrary.org/obo/HP_0008150		
OBO:HP_0008151	Prolonged prothrombin time	biolink:OntologyClass	hp	SNOMEDCT_US:409674002|UMLS:C0151872	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.	http://purl.obolibrary.org/obo/HP_0008151		Increased INR|Prolonged PT|increased international normalised ratio|Increased international normalized ratio|Low factor II activity|Reduced factor II activity|Reduced prothrombin activity
OBO:HP_0008153	Periodic hypokalemic paresis	biolink:OntologyClass	hp	UMLS:C4021553	Episodes of muscle weakness associated with reduced levels of potassium in the blood.	http://purl.obolibrary.org/obo/HP_0008153		Hypokalemic periodic paresis
OBO:HP_0008155	Mucopolysacchariduria	biolink:OntologyClass	hp	UMLS:C4024726	Excessive amounts of mucopolysaccharide in the urine.	http://purl.obolibrary.org/obo/HP_0008155		
OBO:HP_0008158	Hyperapobetalipoproteinemia	biolink:OntologyClass	hp	MSH:D006950|SNOMEDCT_US:238040008|SNOMEDCT_US:299465007|UMLS:C0020474	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.	http://purl.obolibrary.org/obo/HP_0008158		
OBO:HP_0008160	3-hydroxydicarboxylic aciduria	biolink:OntologyClass	hp	UMLS:C4024725	An increase in the level of 3-hydroxydicarboxylic acid in the urine.	http://purl.obolibrary.org/obo/HP_0008160		
OBO:HP_0008161	Absent leukocyte alkaline phosphatase	biolink:OntologyClass	hp	UMLS:C4024724	Alkaline phosphatase levels measured within leukocytes is below detectable levels.	http://purl.obolibrary.org/obo/HP_0008161		Absent leukocyte ALP
OBO:HP_0008162	Asymptomatic hyperammonemia	biolink:OntologyClass	hp	UMLS:C4021552	An increased concentration of ammonia in the blood not associated with symptoms such as encephalopathy.	http://purl.obolibrary.org/obo/HP_0008162		Hyperammonemia, asymptomatic
OBO:HP_0008163	Decreased circulating cortisol level	biolink:OntologyClass	hp	UMLS:C1833054|UMLS:C1836623|UMLS:C1846225	Abnormally reduced concentration of cortisol in the blood.	http://purl.obolibrary.org/obo/HP_0008163		Low blood cortisol level|Decreased cortisol production|Glucocorticoid insufficiency|Hypocortisolemia|Low to undetectable plasma cortisol|Plasma cortisol low|Hypocortisolism
OBO:HP_0008165	Decreased helper T cell proportion	biolink:OntologyClass	hp	UMLS:C4024723	Reduced proportion of helper T cells relative to the total number of T cells.	http://purl.obolibrary.org/obo/HP_0008165		Decreased proportion circulating T-helper cells|Reduced helper T cell proportion
OBO:HP_0008166	Decreased beta-galactosidase activity	biolink:OntologyClass	hp	MSH:D016537|SNOMEDCT_US:238025006|UMLS:C0085131|UMLS:C1854788|UMLS:C1856559	Abnormally decreased rate of beta-galactosidase activity. Beta-galactosidase activity can be measured in leukocyte, fibroblast, or plasma.	http://purl.obolibrary.org/obo/HP_0008166		Beta-galactosidase deficiency in fibroblasts and white blood cells|Beta-galactosidase-1 deficiency|Decreased beta galactosidase activity
OBO:HP_0008167	Very long chain fatty acid accumulation	biolink:OntologyClass	hp	UMLS:C3279397		http://purl.obolibrary.org/obo/HP_0008167		
OBO:HP_0008169	Reduced factor VII activity	biolink:OntologyClass	hp	MSH:D005168|SNOMEDCT_US:37193007|UMLS:C0015503|UMLS:C4024722	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.	http://purl.obolibrary.org/obo/HP_0008169		Factor VII deficiency
OBO:HP_0008176	Neonatal unconjugated hyperbilirubinemia	biolink:OntologyClass	hp	SNOMEDCT_US:281611002|UMLS:C0559506		http://purl.obolibrary.org/obo/HP_0008176		
OBO:HP_0008178	Abnormal cartilage matrix	biolink:OntologyClass	hp	UMLS:C4024721		http://purl.obolibrary.org/obo/HP_0008178		
OBO:HP_0008179	Decreased Arden ratio of electrooculogram	biolink:OntologyClass	hp	UMLS:C4024720	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.	http://purl.obolibrary.org/obo/HP_0008179		Decreased Arden ratio of EOG
OBO:HP_0008180	Mildly elevated creatine kinase	biolink:OntologyClass	hp	UMLS:C1850309		http://purl.obolibrary.org/obo/HP_0008180		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
OBO:HP_0008181	Abetalipoproteinemia	biolink:OntologyClass	hp	MSH:D000012|SNOMEDCT_US:190787008|UMLS:C0000744	An absence of low-density lipoprotein cholesterol in the blood.	http://purl.obolibrary.org/obo/HP_0008181		
OBO:HP_0008182	Adrenocortical hypoplasia	biolink:OntologyClass	hp	UMLS:C4024719		http://purl.obolibrary.org/obo/HP_0008182		Small adrenal cortex
OBO:HP_0008185	Precocious puberty in males	biolink:OntologyClass	hp	UMLS:C1859979	The onset of puberty before the age of 9 years in boys.	http://purl.obolibrary.org/obo/HP_0008185		Early onset of puberty in males|Male precocious puberty
OBO:HP_0008186	Adrenocortical cytomegaly	biolink:OntologyClass	hp	UMLS:C1851720	The presence of large polyhedral cells with eosinophilic granular cytoplasm and enlarged nuclei in the adrenal cortex.	http://purl.obolibrary.org/obo/HP_0008186		
OBO:HP_0008187	Absence of secondary sex characteristics	biolink:OntologyClass	hp	UMLS:C4021551	No secondary sexual characteristics are present at puberty.	http://purl.obolibrary.org/obo/HP_0008187		No secondary sexual characteristics at puberty
OBO:HP_0008188	Thyroid dysgenesis	biolink:OntologyClass	hp	MSH:D050033|UMLS:C1563716		http://purl.obolibrary.org/obo/HP_0008188		Thyroid dysplasia
OBO:HP_0008189	Insulin insensitivity	biolink:OntologyClass	hp	UMLS:C1864570	Decreased sensitivity toward insulin.	http://purl.obolibrary.org/obo/HP_0008189		
OBO:HP_0008191	Thyroid agenesis	biolink:OntologyClass	hp	MSH:D050033|UMLS:C0749420|UMLS:C4020805	The congenital absence of the thyroid gland.	http://purl.obolibrary.org/obo/HP_0008191		Athyroidal hypothyroidism
OBO:HP_0008193	Primary gonadal insufficiency	biolink:OntologyClass	hp	UMLS:C1859014		http://purl.obolibrary.org/obo/HP_0008193		
OBO:HP_0008194	Multiple pancreatic beta-cell adenomas	biolink:OntologyClass	hp	UMLS:C4024718	The presence of multiple pancreatic islet cell adenomas.	http://purl.obolibrary.org/obo/HP_0008194		
OBO:HP_0008197	Absence of pubertal development	biolink:OntologyClass	hp	UMLS:C1846228		http://purl.obolibrary.org/obo/HP_0008197		
OBO:HP_0008198	Congenital hypoparathyroidism	biolink:OntologyClass	hp	UMLS:C1455734	Deficiency of parathyroid hormone with congenital onset.	http://purl.obolibrary.org/obo/HP_0008198		Neonatal hypoparathyroidism
OBO:HP_0008200	Primary hyperparathyroidism	biolink:OntologyClass	hp	MSH:D049950|SNOMEDCT_US:36348003|UMLS:C0221002	A type of hyperparathyroidism caused by a primary abnormality of the parathyroid glands (e.g., adenoma, carcinoma, hyperplasia). Primary hyperparathyroidism is associated with hyercalcemia.	http://purl.obolibrary.org/obo/HP_0008200		
OBO:HP_0008202	Reduced circulating prolactin concentration	biolink:OntologyClass	hp	MSH:C562708|SNOMEDCT_US:67873006|UMLS:C0271586	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.	http://purl.obolibrary.org/obo/HP_0008202		Prolactin deficiency
OBO:HP_0008204	Precocious puberty with Sertoli cell tumor	biolink:OntologyClass	hp	UMLS:C1868007		http://purl.obolibrary.org/obo/HP_0008204		Precocious puberty with Sertoli cell tumour
OBO:HP_0008205	Insulin-dependent but ketosis-resistant diabetes	biolink:OntologyClass	hp	UMLS:C1842404	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.	http://purl.obolibrary.org/obo/HP_0008205		
OBO:HP_0008207	Primary adrenal insufficiency	biolink:OntologyClass	hp	MSH:D000224|SNOMEDCT_US:363732003|SNOMEDCT_US:373662000|SNOMEDCT_US:386584007|UMLS:C0001403|UMLS:C0405580	Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves.	http://purl.obolibrary.org/obo/HP_0008207		Adrenocortical insufficiency|Primary adrenocortical failure|Addison disease|Addison's disease
OBO:HP_0008208	Parathyroid hyperplasia	biolink:OntologyClass	hp	SNOMEDCT_US:9092004|UMLS:C0271844	Hyperplasia of the parathyroid gland.	http://purl.obolibrary.org/obo/HP_0008208		Enlarged parathyroid glands
OBO:HP_0008209	Premature ovarian insufficiency	biolink:OntologyClass	hp	MSH:D008594|MSH:D016649|SNOMEDCT_US:373717006|UMLS:C0025322|UMLS:C0085215	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.	http://purl.obolibrary.org/obo/HP_0008209		Early menopause|Premature menopause|Premature ovarian failure|Climacterium praecox|Hypergonadotropic amenorrhea|Menopause praecox|Primary ovarian insufficiency
OBO:HP_0008211	Parathyroid agenesis	biolink:OntologyClass	hp	MSH:C563238|SNOMEDCT_US:73291005|UMLS:C1321907	Aplasia of the parathyroid gland.	http://purl.obolibrary.org/obo/HP_0008211		Parathyroid absence|Parathyroid aplasia
OBO:HP_0008213	Gonadotropin deficiency	biolink:OntologyClass	hp	MSH:D007006|SNOMEDCT_US:33927004|UMLS:C0271623	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).	http://purl.obolibrary.org/obo/HP_0008213		Pituitary gonadotropin deficiency
OBO:HP_0008214	Decreased serum estradiol	biolink:OntologyClass	hp	SNOMEDCT_US:166449002|UMLS:C0241011	A reduction below normal concentration of estradiol in the circulation.	http://purl.obolibrary.org/obo/HP_0008214		Decreased serum estradiol
OBO:HP_0008216	Adrenal gland dysgenesis	biolink:OntologyClass	hp	UMLS:C1856017	Abnormal development of the adrenal gland.	http://purl.obolibrary.org/obo/HP_0008216		Adrenal gland dysplasia|Dysplastic adrenal glands
OBO:HP_0008221	Adrenal hyperplasia	biolink:OntologyClass	hp	SNOMEDCT_US:419920004|UMLS:C1621895	Enlargement of the adrenal gland.	http://purl.obolibrary.org/obo/HP_0008221		Enlarged adrenal glands
OBO:HP_0008222	Female infertility	biolink:OntologyClass	hp	MSH:D007247|SNOMEDCT_US:6738008|UMLS:C0021361		http://purl.obolibrary.org/obo/HP_0008222		Female infertility
OBO:HP_0008223	Compensated hypothyroidism	biolink:OntologyClass	hp	SNOMEDCT_US:237523006|UMLS:C0342162	Condition associated with a raised serum concentration of thyroid stimulating hormone (TSH) but a normal serum free thyroxine (FT4).	http://purl.obolibrary.org/obo/HP_0008223		Mild hypothyroidism|Subclinical hypothyroidism
OBO:HP_0008225	Thyroid follicular hyperplasia	biolink:OntologyClass	hp	UMLS:C1969546		http://purl.obolibrary.org/obo/HP_0008225		
OBO:HP_0008226	Androgen insufficiency	biolink:OntologyClass	hp	SNOMEDCT_US:38825009|UMLS:C0342527	Insufficient amount of androgenic activity.	http://purl.obolibrary.org/obo/HP_0008226		Hypoandrogenism
OBO:HP_0008227	Pituitary resistance to thyroid hormone	biolink:OntologyClass	hp	SNOMEDCT_US:360348000|SNOMEDCT_US:360353005|UMLS:C0342198	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.	http://purl.obolibrary.org/obo/HP_0008227		
OBO:HP_0008229	Thyroid lymphangiectasia	biolink:OntologyClass	hp	UMLS:C1856129	The presence of lymphangiectasis of the thyroid gland.	http://purl.obolibrary.org/obo/HP_0008229		Thyroid lymphangiectasis
OBO:HP_0008230	obsolete Decreased testosterone in males	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0008230		
OBO:HP_0008231	Macronodular adrenal hyperplasia	biolink:OntologyClass	hp	SNOMEDCT_US:237778003|UMLS:C0342495		http://purl.obolibrary.org/obo/HP_0008231		
OBO:HP_0008232	Elevated circulating follicle stimulating hormone level	biolink:OntologyClass	hp	UMLS:C4021550	An elevated concentration of follicle-stimulating hormone in the blood.	http://purl.obolibrary.org/obo/HP_0008232		Elevated FSH level|Elevated follicle stimulating hormone|Elevated follicle-stimulating hormone|Elevated plasma follicle stimulating hormone|Increased circulating follicle stimulating hormone level
OBO:HP_0008233	Decreased circulating progesterone	biolink:OntologyClass	hp	UMLS:C1858995	An reduced concentration of progesterone in the blood.	http://purl.obolibrary.org/obo/HP_0008233		Decreased serum progesterone
OBO:HP_0008236	Isosexual precocious puberty	biolink:OntologyClass	hp	SNOMEDCT_US:4294006|UMLS:C0271528		http://purl.obolibrary.org/obo/HP_0008236		
OBO:HP_0008237	Hypothalamic hypothyroidism	biolink:OntologyClass	hp	SNOMEDCT_US:37429009|UMLS:C0220998	A type of hypothyroidism that results from a defect in thyrotropin-releasing hormone activity.	http://purl.obolibrary.org/obo/HP_0008237		Tertiary hypothyroidism
OBO:HP_0008239	Adrenal medullary hypoplasia	biolink:OntologyClass	hp	UMLS:C4024717	Developmental hypoplasia of the adrenal medulla.	http://purl.obolibrary.org/obo/HP_0008239		Small adrenal medulla
OBO:HP_0008240	Secondary growth hormone deficiency	biolink:OntologyClass	hp	UMLS:C4024716		http://purl.obolibrary.org/obo/HP_0008240		
OBO:HP_0008242	Pseudohypoaldosteronism	biolink:OntologyClass	hp	MSH:D011546|SNOMEDCT_US:77098009|UMLS:C0033805	A state of renal tubular unresponsiveness or resistance to the action of aldosterone.	http://purl.obolibrary.org/obo/HP_0008242		
OBO:HP_0008244	Congenital adrenal hypoplasia	biolink:OntologyClass	hp	SNOMEDCT_US:93235007|UMLS:C0220766	A type of adrenal hypoplasia with congenital onset.	http://purl.obolibrary.org/obo/HP_0008244		Congenital adrenal gland hypoplasia
OBO:HP_0008245	Pituitary hypothyroidism	biolink:OntologyClass	hp	SNOMEDCT_US:82598004|UMLS:C3665349	A type of hypothyroidism that results from a defect in thyroid-stimulating hormone secretion.	http://purl.obolibrary.org/obo/HP_0008245		Low thyroid gland function due to abnormal pituitary gland|Secondary hypothyroidism|TSH deficient hypothyroidism|Thyroid stimulating hormone deficiency|Thyrotropin deficiency
OBO:HP_0008247	Euthyroid hyperthyroxinemia	biolink:OntologyClass	hp	UMLS:C4021549	An abnormality of thyroid physiology (HP:0002926) characterized by increased levels of thyroxine without evidence of clinical thyroid disease.	http://purl.obolibrary.org/obo/HP_0008247		Asymptomatic hyperthyroxinemia
OBO:HP_0008249	Thyroid hyperplasia	biolink:OntologyClass	hp	UMLS:C1112776	Hyperplasia of the thyroid gland.	http://purl.obolibrary.org/obo/HP_0008249		Large thyroid
OBO:HP_0008250	Infantile hypercalcemia	biolink:OntologyClass	hp	MSH:C562999|SNOMEDCT_US:276645004|UMLS:C0475732		http://purl.obolibrary.org/obo/HP_0008250		
OBO:HP_0008251	Congenital goiter	biolink:OntologyClass	hp	SNOMEDCT_US:276565004|UMLS:C0349476	An enlargement of the thyroid gland with congenital onset.	http://purl.obolibrary.org/obo/HP_0008251		Congenital goitre
OBO:HP_0008255	Transient neonatal diabetes mellitus	biolink:OntologyClass	hp	SNOMEDCT_US:237603002|UMLS:C0342273		http://purl.obolibrary.org/obo/HP_0008255		
OBO:HP_0008256	Adrenocortical adenoma	biolink:OntologyClass	hp	MSH:D018246|SNOMEDCT_US:18365006|SNOMEDCT_US:255036008|SNOMEDCT_US:302826002|UMLS:C0206667	Adrenocortical adenomas are benign tumors of the adrenal cortex.	http://purl.obolibrary.org/obo/HP_0008256		Adrenocortical adenomas
OBO:HP_0008258	Congenital adrenal hyperplasia	biolink:OntologyClass	hp	MSH:D000312|SNOMEDCT_US:237751000|UMLS:C0001627	A type of adrenal hyperplasia with congenital onset.	http://purl.obolibrary.org/obo/HP_0008258		
OBO:HP_0008259	Adrenocorticotropin receptor defect	biolink:OntologyClass	hp	UMLS:C4021548	Adrenal insufficiency secondary to a defect in the ACTH receptor.	http://purl.obolibrary.org/obo/HP_0008259		ACTH receptor defect|ACTHR defect|Adrenocorticotropic hormone-resistant adrenal insufficiency
OBO:HP_0008261	Pancreatic islet cell adenoma	biolink:OntologyClass	hp	UMLS:C1851697	The presence of an adenoma of the pancreas with origin in a pancreatic B cell.	http://purl.obolibrary.org/obo/HP_0008261		
OBO:HP_0008263	Thyroid defect in oxidation and organification of iodide	biolink:OntologyClass	hp	UMLS:C1848800		http://purl.obolibrary.org/obo/HP_0008263		
OBO:HP_0008264	Neutrophil inclusion bodies	biolink:OntologyClass	hp	UMLS:C4021547	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.	http://purl.obolibrary.org/obo/HP_0008264		
OBO:HP_0008265	Mitochondrial lysine transport defect	biolink:OntologyClass	hp	UMLS:C4024715		http://purl.obolibrary.org/obo/HP_0008265		
OBO:HP_0008269	Increased red cell hemolysis by shear stress	biolink:OntologyClass	hp	UMLS:C3806125		http://purl.obolibrary.org/obo/HP_0008269		
OBO:HP_0008271	Abnormal cartilage collagen	biolink:OntologyClass	hp	UMLS:C4020803|UMLS:C4020804|UMLS:C4021847	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.	http://purl.obolibrary.org/obo/HP_0008271		Abnormal hyaline collagen|Abnormal type II collagen
OBO:HP_0008272	Renal tubular lysine transport defect	biolink:OntologyClass	hp	UMLS:C4024714		http://purl.obolibrary.org/obo/HP_0008272		
OBO:HP_0008273	Transient aminoaciduria	biolink:OntologyClass	hp	UMLS:C4024713		http://purl.obolibrary.org/obo/HP_0008273		
OBO:HP_0008275	Abnormal light-adapted electroretinogram	biolink:OntologyClass	hp	UMLS:C4024712		http://purl.obolibrary.org/obo/HP_0008275		Abnormal cone-mediated electroretinogram
OBO:HP_0008277	Abnormal blood zinc concentration	biolink:OntologyClass	hp	UMLS:C4020802|UMLS:C4024711	An abnormality of zinc ion homeostasis.	http://purl.obolibrary.org/obo/HP_0008277		Abnormality of zinc homeostasis|Abnormal zinc metabolism
OBO:HP_0008278	Cerebellar cortical atrophy	biolink:OntologyClass	hp	UMLS:C4024710	Atrophy (wasting) of the cerebellar cortex.	http://purl.obolibrary.org/obo/HP_0008278		Cerebellar cortex degeneration
OBO:HP_0008279	Transient hyperlipidemia	biolink:OntologyClass	hp	UMLS:C1850722		http://purl.obolibrary.org/obo/HP_0008279		
OBO:HP_0008281	Acute hyperammonemia	biolink:OntologyClass	hp	UMLS:C1859506	An increased concentration of ammonia in the blood with sudden onset.	http://purl.obolibrary.org/obo/HP_0008281		Hyperammonemia, acute
OBO:HP_0008282	Unconjugated hyperbilirubinemia	biolink:OntologyClass	hp	SNOMEDCT_US:7752002|UMLS:C0268306	An increased amount of unconjugated (indirect) bilurubin in the blood.	http://purl.obolibrary.org/obo/HP_0008282		
OBO:HP_0008283	Fasting hyperinsulinemia	biolink:OntologyClass	hp	UMLS:C1864954	An increased concentration of insulin in the blood in the fasting state, i.e., not as the response to food intake.	http://purl.obolibrary.org/obo/HP_0008283		High blood insulin levels while fasting
OBO:HP_0008285	Transient hypophosphatemia	biolink:OntologyClass	hp	UMLS:C4024709		http://purl.obolibrary.org/obo/HP_0008285		
OBO:HP_0008288	Nonketotic hyperglycinemia	biolink:OntologyClass	hp	MSH:D020158|SNOMEDCT_US:237939006|UMLS:C0751748		http://purl.obolibrary.org/obo/HP_0008288		
OBO:HP_0008290	Partial complement factor H deficiency	biolink:OntologyClass	hp	UMLS:C4024708	A partial reduction in level of the complement component Factor H in circulation.	http://purl.obolibrary.org/obo/HP_0008290		
OBO:HP_0008291	Pituitary corticotropic cell adenoma	biolink:OntologyClass	hp	MSH:D049913|SNOMEDCT_US:21109002|SNOMEDCT_US:254958004|UMLS:C1306214	A type of pituitary adenoma that produces adrenocorticotropic hormone (ACTH).	http://purl.obolibrary.org/obo/HP_0008291		ACTH-producing pituitary adenoma|Corticotropin-secreting pituitary adenoma
OBO:HP_0008293	Long-chain dicarboxylic aciduria	biolink:OntologyClass	hp	UMLS:C1837273	An increase in the level of long-chain dicarboxylic acid in the urine.	http://purl.obolibrary.org/obo/HP_0008293		
OBO:HP_0008297	Transient hyperphenylalaninemia	biolink:OntologyClass	hp	SNOMEDCT_US:28575006|UMLS:C0268464	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).	http://purl.obolibrary.org/obo/HP_0008297		
OBO:HP_0008301	Dermatan sulfate excretion in urine	biolink:OntologyClass	hp	UMLS:C1854774	An increased concentration of dermatan sulfate in the urine.	http://purl.obolibrary.org/obo/HP_0008301		Dermatan sulphate excretion in urine
OBO:HP_0008303	Olivary degeneration	biolink:OntologyClass	hp	UMLS:C4024707	Degeneration of the olivary bodies, prominent oval structures in the medulla oblongata.	http://purl.obolibrary.org/obo/HP_0008303		
OBO:HP_0008305	Exercise-induced myoglobinuria	biolink:OntologyClass	hp	UMLS:C1845155|UMLS:C1860069	Presence of myoglobin in the urine following exercise.	http://purl.obolibrary.org/obo/HP_0008305		Exercise-induced myoglobinuria in adults
OBO:HP_0008306	Abnormal iron deposition in mitochondria	biolink:OntologyClass	hp	UMLS:C3151556		http://purl.obolibrary.org/obo/HP_0008306		
OBO:HP_0008309	Medium chain dicarboxylic aciduria	biolink:OntologyClass	hp	UMLS:C1860081	An increase in the level of medium chain dicarboxylic acid in the urine.	http://purl.obolibrary.org/obo/HP_0008309		
OBO:HP_0008311	Spinal cord posterior columns myelin loss	biolink:OntologyClass	hp	UMLS:C4024706		http://purl.obolibrary.org/obo/HP_0008311		
OBO:HP_0008314	Decreased activity of mitochondrial complex II	biolink:OntologyClass	hp	UMLS:C4020801|UMLS:C4024705	A reduction in the activity of the mitochondrial respiratory chain complex II, which is part of the electron transport chain in mitochondria.	http://purl.obolibrary.org/obo/HP_0008314		Respiratory complex II deficiency
OBO:HP_0008315	Decreased plasma free carnitine	biolink:OntologyClass	hp	UMLS:C4015009	A decreased concentration of free (unbound) carnitine in the blood.	http://purl.obolibrary.org/obo/HP_0008315		
OBO:HP_0008316	Abnormal mitochondria in muscle tissue	biolink:OntologyClass	hp	UMLS:C4021546	An abnormality of the mitochondria in muscle tissue.	http://purl.obolibrary.org/obo/HP_0008316		Abnormal mitochondria in muscle
OBO:HP_0008318	Elevated leukocyte alkaline phosphatase	biolink:OntologyClass	hp	UMLS:C4024704	Increased alkaline phosphatase measured within leukocytes.	http://purl.obolibrary.org/obo/HP_0008318		Elevated leukocyte ALP
OBO:HP_0008320	Impaired collagen-induced platelet aggregation	biolink:OntologyClass	hp	UMLS:C4024703	Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics.	http://purl.obolibrary.org/obo/HP_0008320		
OBO:HP_0008321	Reduced factor X activity	biolink:OntologyClass	hp	MSH:D005171|SNOMEDCT_US:76642003|UMLS:C0015519|UMLS:C4024702	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).	http://purl.obolibrary.org/obo/HP_0008321		Decreased factor x activity|Factor X deficiency
OBO:HP_0008322	Abnormal mitochondrial morphology	biolink:OntologyClass	hp	UMLS:C4014650	Any structural anomaly of the mitochondria.	http://purl.obolibrary.org/obo/HP_0008322		Abnormal mitochondrion morphology
OBO:HP_0008323	Abnormal light- and dark-adapted electroretinogram	biolink:OntologyClass	hp	UMLS:C3151111	An abnormality of the combined rod-and-cone response on electroretinogram.	http://purl.obolibrary.org/obo/HP_0008323		Abnormal rod and cone electroretinogram
OBO:HP_0008326	Reduced circulating vitamin B6 level	biolink:OntologyClass	hp	MSH:D026681|SNOMEDCT_US:386080007|UMLS:C0936215	An abnormally decreased concentration of vitamin B6 in the blood circulation.	http://purl.obolibrary.org/obo/HP_0008326		Reduced vitamin b6 levels|Vitamin B6 deficiency
OBO:HP_0008327	Microscopic nephrocalcinosis	biolink:OntologyClass	hp	SNOMEDCT_US:236444003|UMLS:C0403474	The presence of microscopic crystalline calcium precipitates in the form of oxalate and/or phosphate in the renal parenchyma.	http://purl.obolibrary.org/obo/HP_0008327		
OBO:HP_0008330	Reduced von Willebrand factor activity	biolink:OntologyClass	hp	UMLS:C4024701	Decreased activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces.	http://purl.obolibrary.org/obo/HP_0008330		Decreased von willebrand factor activity
OBO:HP_0008331	Elevated creatine kinase after exercise	biolink:OntologyClass	hp	UMLS:C4024700		http://purl.obolibrary.org/obo/HP_0008331		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
OBO:HP_0008335	obsolete Renal aminoaciduria	biolink:OntologyClass	hp	MSH:D000608|UMLS:C0002534		http://purl.obolibrary.org/obo/HP_0008335		
OBO:HP_0008336	Complex organic aciduria	biolink:OntologyClass	hp	UMLS:C3151953		http://purl.obolibrary.org/obo/HP_0008336		
OBO:HP_0008338	Partial functional complement factor D deficiency	biolink:OntologyClass	hp	UMLS:C4024699	A partial reduction in level of the complement component Factor D in circulation.	http://purl.obolibrary.org/obo/HP_0008338		Partial functional adipsin deficiency|Partial functional factor d deficiency
OBO:HP_0008339	Diaminoaciduria	biolink:OntologyClass	hp	UMLS:C4024698	An increased urine level of any amino acid carrying two amino groups (Asparagine, glutamine and lysine, cystine, ornithine).	http://purl.obolibrary.org/obo/HP_0008339		
OBO:HP_0008341	Distal renal tubular acidosis	biolink:OntologyClass	hp	MSH:D000141|SNOMEDCT_US:236461000|SNOMEDCT_US:86210009|UMLS:C1704380	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.	http://purl.obolibrary.org/obo/HP_0008341		Renal tubular acidosis, type I
OBO:HP_0008344	Elevated plasma branched chain amino acids	biolink:OntologyClass	hp	UMLS:C4024697	An increased concentration of a branched chain amino acid in the blood.	http://purl.obolibrary.org/obo/HP_0008344		
OBO:HP_0008345	Hypoplasia of the iris dilator muscle	biolink:OntologyClass	hp	UMLS:C4024696	Underdevelopment of the dilatator pupillae.	http://purl.obolibrary.org/obo/HP_0008345		Hypoplasia of the pupil dilator muscle|Underdeveloped iris dilator muscle|Underdeveloped pupil dilator muscle
OBO:HP_0008346	Increased red cell sickling tendency	biolink:OntologyClass	hp	UMLS:C4024695		http://purl.obolibrary.org/obo/HP_0008346		Increased sickling of erythrocytes|Increased sickling of red cells
OBO:HP_0008347	Decreased activity of mitochondrial complex IV	biolink:OntologyClass	hp	UMLS:C4020800	A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria.	http://purl.obolibrary.org/obo/HP_0008347		Respiratory complex IV deficiency
OBO:HP_0008348	Decreased circulating IgG2 level	biolink:OntologyClass	hp	UMLS:C4021545	A reduction in immunoglobulin levels of the IgG2 subclass in the blood circulation.	http://purl.obolibrary.org/obo/HP_0008348		Decreased IgG2 level in blood|Immunoglobulin IgG2 deficiency|Reduced IgG2 levels
OBO:HP_0008352	Impaired platelet adhesion	biolink:OntologyClass	hp	UMLS:C4024694	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.	http://purl.obolibrary.org/obo/HP_0008352		Impaired thrombocytes adhesion
OBO:HP_0008353	Neutral hyperaminoaciduria	biolink:OntologyClass	hp	UMLS:C1856194	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.	http://purl.obolibrary.org/obo/HP_0008353		
OBO:HP_0008354	Factor X activation deficiency	biolink:OntologyClass	hp	UMLS:C4024693	Reduced ability to transform factor X into its activated form factor Xa.	http://purl.obolibrary.org/obo/HP_0008354		
OBO:HP_0008356	obsolete Combined hyperlipidemia	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0008356		
OBO:HP_0008357	Reduced factor XIII activity	biolink:OntologyClass	hp	UMLS:C4024692	Decreased activity of coagulation factor XIII (also known as fibrin stabilizing factor). Activated Factor XIII cross-links fibrin polymers solidifying the clot.	http://purl.obolibrary.org/obo/HP_0008357		
OBO:HP_0008358	Hyperprolinemia	biolink:OntologyClass	hp	SNOMEDCT_US:59655002|UMLS:C0268528	An increased concentration of proline in the blood.	http://purl.obolibrary.org/obo/HP_0008358		Prolinemia
OBO:HP_0008360	Neonatal hypoproteinemia	biolink:OntologyClass	hp	UMLS:C4024691	A neonatal decreased concentration of proteins in the blood.	http://purl.obolibrary.org/obo/HP_0008360		
OBO:HP_0008361	Corticospinal tract pallor	biolink:OntologyClass	hp	UMLS:C4024690		http://purl.obolibrary.org/obo/HP_0008361		
OBO:HP_0008362	Aplasia/Hypoplasia of the hallux	biolink:OntologyClass	hp	UMLS:C1836213	Absence or underdevelopment of the big toe.	http://purl.obolibrary.org/obo/HP_0008362		Absent/small big toe|Absent/underdeveloped big toe|Aplastic/hypoplastic halluces
OBO:HP_0008363	Aplasia/Hypoplasia of the tarsal bones	biolink:OntologyClass	hp	UMLS:C1848671	Absence or underdevelopment of the tarsal bones.	http://purl.obolibrary.org/obo/HP_0008363		Absent/small ankle bone|Absent/underdeveloped ankle bone|Aplastic/hypoplastic tarsals
OBO:HP_0008364	Abnormality of the calcaneus	biolink:OntologyClass	hp	UMLS:C4024689	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.	http://purl.obolibrary.org/obo/HP_0008364		Abnormal heel bone
OBO:HP_0008365	Abnormality of the talus	biolink:OntologyClass	hp	UMLS:C4024688	An abnormality of the talus.	http://purl.obolibrary.org/obo/HP_0008365		Abnormal large bone of ankle
OBO:HP_0008366	Contractures involving the joints of the feet	biolink:OntologyClass	hp	SNOMEDCT_US:239742004|UMLS:C0343149		http://purl.obolibrary.org/obo/HP_0008366		Contractures of the foot joints
OBO:HP_0008368	Tarsal synostosis	biolink:OntologyClass	hp	MSH:D000070604|SNOMEDCT_US:27173008|UMLS:C0265654	Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones).	http://purl.obolibrary.org/obo/HP_0008368		Fused ankle bones|Synostosis involving tarsal bones|Synostosis of tarsal bones|Tarsal bone fusion|Tarsal bone synostosis|Tarsal fusion|Tarsal fusions
OBO:HP_0008369	Abnormal tarsal ossification	biolink:OntologyClass	hp	UMLS:C4021544|UMLS:C4025075	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.	http://purl.obolibrary.org/obo/HP_0008369		Hardening of ankle bones|Abnormal maturation of ankle bones|Abnormal ossification of tarsal bones
OBO:HP_0008371	Abnormal metatarsal ossification	biolink:OntologyClass	hp	UMLS:C4021543	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.	http://purl.obolibrary.org/obo/HP_0008371		Abnormal maturation of long bone of foot|Abnormal ossification involving metatarsal bones
OBO:HP_0008372	Abnormality of vitamin A metabolism	biolink:OntologyClass	hp	UMLS:C4024686		http://purl.obolibrary.org/obo/HP_0008372		
OBO:HP_0008373	Puberty and gonadal disorders	biolink:OntologyClass	hp	UMLS:C4024685		http://purl.obolibrary.org/obo/HP_0008373		Puberty and gonadal disorders
OBO:HP_0008376	Nasal, dysarthic speech	biolink:OntologyClass	hp	UMLS:C1834664		http://purl.obolibrary.org/obo/HP_0008376		Breathy speech
OBO:HP_0008383	Slow-growing nails	biolink:OntologyClass	hp	UMLS:C1835238	Nails whose growth is slower than normal.	http://purl.obolibrary.org/obo/HP_0008383		Slow-growing nails
OBO:HP_0008386	Aplasia/Hypoplasia of the nails	biolink:OntologyClass	hp	UMLS:C1859077	Aplasia or developmental hypoplasia of the nail.	http://purl.obolibrary.org/obo/HP_0008386		Absent/small nails|Absent/underdeveloped nails|Absent/hypoplastic nails|Nail aplasia/hypoplasia
OBO:HP_0008388	Abnormal toenail morphology	biolink:OntologyClass	hp	SNOMEDCT_US:700189007|UMLS:C3839753	An anomaly of the toenail.	http://purl.obolibrary.org/obo/HP_0008388		Abnormality of the toenail|Abnormality of the toenails
OBO:HP_0008390	Recurrent loss of toenails and fingernails	biolink:OntologyClass	hp	UMLS:C4021542	Recurrent loss, or shedding, of the nails of the fingers and toes.	http://purl.obolibrary.org/obo/HP_0008390		Recurrent loss of toenails and fingernails|Recurrent shedding of toenails and fingernails
OBO:HP_0008391	Dystrophic fingernails	biolink:OntologyClass	hp	UMLS:C3551426	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.	http://purl.obolibrary.org/obo/HP_0008391		Poor fingernail formation
OBO:HP_0008392	Subungual hyperkeratosis	biolink:OntologyClass	hp	SNOMEDCT_US:10165000|UMLS:C0038605	A thickening of the stratum corneum in the region beneath the nails.	http://purl.obolibrary.org/obo/HP_0008392		Thickened, discolored skin under nail
OBO:HP_0008393	Congenital curved nail of fourth toe	biolink:OntologyClass	hp	UMLS:C4024684		http://purl.obolibrary.org/obo/HP_0008393		
OBO:HP_0008394	Congenital onychodystrophy	biolink:OntologyClass	hp	UMLS:C1393669|UMLS:C4280413		http://purl.obolibrary.org/obo/HP_0008394		Congenital malformed nails
OBO:HP_0008396	Chronic monilial nail infection	biolink:OntologyClass	hp	UMLS:C4024683	Chronic infection of the nails by Candida species.	http://purl.obolibrary.org/obo/HP_0008396		
OBO:HP_0008398	Hypoplastic fifth fingernail	biolink:OntologyClass	hp	UMLS:C4024682	A nail of the fifth finger that is diminished in length and width, i.e., underdeveloped nail of little finger.	http://purl.obolibrary.org/obo/HP_0008398		Underdeveloped fifth fingernail|Underdeveloped fingernail of little finger|Underdeveloped fingernail of pinkie finger|Underdeveloped fingernail of pinky finger
OBO:HP_0008399	Circumungual hyperkeratosis	biolink:OntologyClass	hp	UMLS:C4024681	A thickening of the stratum corneum, the outer layer of the skin, in the region surrounding the nails.	http://purl.obolibrary.org/obo/HP_0008399		Thick skin around nails
OBO:HP_0008400	Onycholysis of distal fingernails	biolink:OntologyClass	hp	UMLS:C4024680	Detachment of the distal fingernails from the nail bed.	http://purl.obolibrary.org/obo/HP_0008400		Detachment of outermost fingernails
OBO:HP_0008401	Onychogryposis of toenails	biolink:OntologyClass	hp	UMLS:C4024679	Thickened toenails.	http://purl.obolibrary.org/obo/HP_0008401		Overgrowth and curving of toenails
OBO:HP_0008402	Ridged fingernail	biolink:OntologyClass	hp	UMLS:C1849392	Longitudinal, linear prominences in the fingernail plate.	http://purl.obolibrary.org/obo/HP_0008402		Longitudinally grooved fingernails|Ridged fingernail|Ridged fingernails
OBO:HP_0008404	Nail dystrophy	biolink:OntologyClass	hp	MEDDRA:10028698|SNOMEDCT_US:87065009|UMLS:C0221260	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.	http://purl.obolibrary.org/obo/HP_0008404		Poor nail formation|Dystrophic nails|Onychodystrophy
OBO:HP_0008407	Hyperconvex thumb nails	biolink:OntologyClass	hp	UMLS:C1855290		http://purl.obolibrary.org/obo/HP_0008407		Tightly curved thumb nail
OBO:HP_0008410	Subungual hyperkeratotic fragments	biolink:OntologyClass	hp	UMLS:C1852311		http://purl.obolibrary.org/obo/HP_0008410		
OBO:HP_0008414	Lumbar kyphosis in infancy	biolink:OntologyClass	hp	UMLS:C1863423		http://purl.obolibrary.org/obo/HP_0008414		Hunched back in infancy|Round back in infancy
OBO:HP_0008416	Six lumbar vertebrae	biolink:OntologyClass	hp	UMLS:C1839279		http://purl.obolibrary.org/obo/HP_0008416		
OBO:HP_0008417	Vertebral hypoplasia	biolink:OntologyClass	hp	SNOMEDCT_US:205456006|UMLS:C0345394	Small, underdeveloped vertebral bodies.	http://purl.obolibrary.org/obo/HP_0008417	hposlim_core	Underdeveloped vertebrae
OBO:HP_0008418	Squared-off platyspondyly	biolink:OntologyClass	hp	UMLS:C1849051		http://purl.obolibrary.org/obo/HP_0008418		
OBO:HP_0008419	Intervertebral disc degeneration	biolink:OntologyClass	hp	MSH:D055959|SNOMEDCT_US:77547008|UMLS:C0158266	The presence of degenerative changes of intervertebral disk.	http://purl.obolibrary.org/obo/HP_0008419		Degeneration of intervertebral disks|Degenerative disc disease|Degenerative intervertebral disk
OBO:HP_0008420	Punctate vertebral calcifications	biolink:OntologyClass	hp	UMLS:C4024678	The presence of punctiform calcification of the bone of the vertebral bodies.	http://purl.obolibrary.org/obo/HP_0008420		
OBO:HP_0008421	Tall lumbar vertebral bodies	biolink:OntologyClass	hp	UMLS:C1863313		http://purl.obolibrary.org/obo/HP_0008421		
OBO:HP_0008422	Vertebral wedging	biolink:OntologyClass	hp	UMLS:C1695776	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.	http://purl.obolibrary.org/obo/HP_0008422		Wedge-shaped vertebrae|Wedged vertebrae|anterior wedging
OBO:HP_0008423	Spinal dysplasia	biolink:OntologyClass	hp	UMLS:C4021853	The presence of developmental dysplasia of the vertebral column.	http://purl.obolibrary.org/obo/HP_0008423		
OBO:HP_0008424	Hypoplastic 5th lumbar vertebrae	biolink:OntologyClass	hp	UMLS:C1859366		http://purl.obolibrary.org/obo/HP_0008424		Underdeveloped 5th lumbar vertebrae
OBO:HP_0008425	Cuboid-shaped thoracolumbar vertebral bodies	biolink:OntologyClass	hp	UMLS:C1855289		http://purl.obolibrary.org/obo/HP_0008425		
OBO:HP_0008428	Vertebral clefting	biolink:OntologyClass	hp	UMLS:C1855828	Schisis (cleft or cleavage) of vertebral bodies.	http://purl.obolibrary.org/obo/HP_0008428		Vertebral clefts
OBO:HP_0008430	Anterior beaking of lumbar vertebrae	biolink:OntologyClass	hp	UMLS:C4021541	Anterior tongue-like protrusions of the vertebral bodies of the lumbar spine.	http://purl.obolibrary.org/obo/HP_0008430		Anterior tongue-like protrusion of lumbar vertebral bodies
OBO:HP_0008432	Anterior wedging of L1	biolink:OntologyClass	hp	UMLS:C4024677	An abnormality of the shape of the lumbar vertebra L1 such that it is wedge-shaped (narrow towards the front).	http://purl.obolibrary.org/obo/HP_0008432		
OBO:HP_0008433	Reversed usual vertebral column curves	biolink:OntologyClass	hp	UMLS:C4024676		http://purl.obolibrary.org/obo/HP_0008433		
OBO:HP_0008434	Hypoplastic cervical vertebrae	biolink:OntologyClass	hp	UMLS:C1835570		http://purl.obolibrary.org/obo/HP_0008434		Cervical vertebrae hypoplasia|Underdeveloped cervical vertebrae
OBO:HP_0008435	Absent in utero ossification of vertebral bodies	biolink:OntologyClass	hp	UMLS:C1842698		http://purl.obolibrary.org/obo/HP_0008435		
OBO:HP_0008436	Absent/hypoplastic coccyx	biolink:OntologyClass	hp	UMLS:C1856644		http://purl.obolibrary.org/obo/HP_0008436		Absent/small tailbone|Absent/underdeveloped tailbone
OBO:HP_0008437	Bifid thoracic vertebrae	biolink:OntologyClass	hp	UMLS:C2751478		http://purl.obolibrary.org/obo/HP_0008437		
OBO:HP_0008438	Vertebral arch anomaly	biolink:OntologyClass	hp	UMLS:C1835764	A morphological abnormality of the vertebral arch, i.e., of the posterior part of a vertebra.	http://purl.obolibrary.org/obo/HP_0008438		Vertebral arch abnormalities
OBO:HP_0008439	Lumbar hemivertebrae	biolink:OntologyClass	hp	SNOMEDCT_US:93167001|UMLS:C0432149	Absence of one half of the vertebral body in the lumbar spine.	http://purl.obolibrary.org/obo/HP_0008439		
OBO:HP_0008440	C1-C2 vertebral abnormality	biolink:OntologyClass	hp	UMLS:C4024675	Any abnormality of the atlas and the axis.	http://purl.obolibrary.org/obo/HP_0008440		
OBO:HP_0008441	Herniation of intervertebral nuclei	biolink:OntologyClass	hp	MSH:D007405|SNOMEDCT_US:73589001|UMLS:C0021818|UMLS:C1832597	The presence of one or more herniated nucleus pulposus of intervertebral disk.	http://purl.obolibrary.org/obo/HP_0008441	hposlim_core	Herniated disk|Herniated intervertebral nuclei
OBO:HP_0008442	Vertebral hyperostosis	biolink:OntologyClass	hp	UMLS:C1834057	Excessive growth of the bones of the vertebral bodies.	http://purl.obolibrary.org/obo/HP_0008442		
OBO:HP_0008443	Spinal deformities	biolink:OntologyClass	hp	SNOMEDCT_US:298380006|UMLS:C0575157		http://purl.obolibrary.org/obo/HP_0008443		
OBO:HP_0008444	Posterior wedging of vertebral bodies	biolink:OntologyClass	hp	UMLS:C1969679	An abnormality of the shape of vertebrae, such that they are wedge-shaped (narrow towards the back).	http://purl.obolibrary.org/obo/HP_0008444		Posterior wedging
OBO:HP_0008445	Cervical spinal canal stenosis	biolink:OntologyClass	hp	UMLS:C1844925	An abnormal narrowing of the cervical spinal canal.	http://purl.obolibrary.org/obo/HP_0008445		Narrow cervical spinal canal
OBO:HP_0008447	Hypoplastic coccygeal vertebrae	biolink:OntologyClass	hp	UMLS:C2751480		http://purl.obolibrary.org/obo/HP_0008447		
OBO:HP_0008449	Progressive cervical vertebral spine fusion	biolink:OntologyClass	hp	UMLS:C1851129		http://purl.obolibrary.org/obo/HP_0008449		
OBO:HP_0008450	Narrow vertebral interpedicular distance	biolink:OntologyClass	hp	UMLS:C1832598	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.	http://purl.obolibrary.org/obo/HP_0008450	hposlim_core	Interpedicular narrowing|Narrow interpedicular space|Narrow interpediculate distances|Narrowing of interpediculate distances
OBO:HP_0008451	Posterior vertebral hypoplasia	biolink:OntologyClass	hp	UMLS:C1856780		http://purl.obolibrary.org/obo/HP_0008451		
OBO:HP_0008452	Wafer-thin platyspondyly	biolink:OntologyClass	hp	UMLS:C1865124		http://purl.obolibrary.org/obo/HP_0008452		
OBO:HP_0008453	Congenital kyphoscoliosis	biolink:OntologyClass	hp	SNOMEDCT_US:405772002|UMLS:C0345392		http://purl.obolibrary.org/obo/HP_0008453		
OBO:HP_0008454	Lumbar kyphosis	biolink:OntologyClass	hp	UMLS:C1844818	Over curvature of the lumbar region.	http://purl.obolibrary.org/obo/HP_0008454		Rounded lower back|Lumbar gibbus deformity
OBO:HP_0008455	Dysplastic sacrum	biolink:OntologyClass	hp	UMLS:C1851305	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.	http://purl.obolibrary.org/obo/HP_0008455		Absence of some of the sacral and coccygeal bones|Partial sacral agenesis|Sacral dysgenesis
OBO:HP_0008456	C2-C3 subluxation	biolink:OntologyClass	hp	UMLS:C2678323	A partial dislocation of the intervertebral joint between the second and third cervical vertebrae.	http://purl.obolibrary.org/obo/HP_0008456		
OBO:HP_0008457	Caudal interpedicular narrowing	biolink:OntologyClass	hp	UMLS:C1863734	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.	http://purl.obolibrary.org/obo/HP_0008457		Caudal narrowing of interpedicular distances
OBO:HP_0008458	Progressive congenital scoliosis	biolink:OntologyClass	hp	UMLS:C1857025	A progressive form of scoliosis with congenital onset.	http://purl.obolibrary.org/obo/HP_0008458		
OBO:HP_0008459	Cervical vertebral agenesis	biolink:OntologyClass	hp	MSH:C562952|SNOMEDCT_US:91880006|UMLS:C0432160	Agenesis of one or more vertebrae of the cervical vertebral column.	http://purl.obolibrary.org/obo/HP_0008459		Cervical vertebrae agenesis|Missing cervical vertebrae
OBO:HP_0008460	Hypoplastic spinal processes	biolink:OntologyClass	hp	UMLS:C4024674		http://purl.obolibrary.org/obo/HP_0008460		Underdeveloped spinal processes
OBO:HP_0008461	Cervical vertebral facet hypoplasia	biolink:OntologyClass	hp	UMLS:C4024673		http://purl.obolibrary.org/obo/HP_0008461		
OBO:HP_0008462	Cervical instability	biolink:OntologyClass	hp	UMLS:C1863314		http://purl.obolibrary.org/obo/HP_0008462		
OBO:HP_0008463	Central vertebral hypoplasia	biolink:OntologyClass	hp	UMLS:C4024672		http://purl.obolibrary.org/obo/HP_0008463		
OBO:HP_0008464	Absent spinous processes of lower thoracic and lumbar vertebrae	biolink:OntologyClass	hp	UMLS:C4024671		http://purl.obolibrary.org/obo/HP_0008464		
OBO:HP_0008465	Absent vertebra	biolink:OntologyClass	hp	SNOMEDCT_US:15843004|UMLS:C0158776	A developmental defect characterized by agenesis of one or more vertebral bodies.	http://purl.obolibrary.org/obo/HP_0008465		Absent vertebrae
OBO:HP_0008467	Thoracic hemivertebrae	biolink:OntologyClass	hp	SNOMEDCT_US:95304000|UMLS:C0432152|UMLS:C4020799	Absence of one half of the vertebral body in the thoracic spine.	http://purl.obolibrary.org/obo/HP_0008467		Midthoracic hemivertebrae
OBO:HP_0008468	Abnormal sacral segmentation	biolink:OntologyClass	hp	UMLS:C1968942	An abnormality related to a defect of vertebral separation of sacral vertebrae during development.	http://purl.obolibrary.org/obo/HP_0008468		
OBO:HP_0008469	Cervical vertebral dysplasia	biolink:OntologyClass	hp	MSH:C566140|UMLS:C1861693	Dysplasia of the cervical vertebral column.	http://purl.obolibrary.org/obo/HP_0008469		
OBO:HP_0008470	Lower thoracic interpediculate narrowness	biolink:OntologyClass	hp	UMLS:C1854940	A reduction of the distance between the lower thoracic vertebral pedicles.	http://purl.obolibrary.org/obo/HP_0008470		Narrowness of interpediculate distances in lower thoracic regions
OBO:HP_0008472	Prominent protruding coccyx	biolink:OntologyClass	hp	UMLS:C1850044|UMLS:C4280412		http://purl.obolibrary.org/obo/HP_0008472		Large tailbone|Prominent protruding tailbone
OBO:HP_0008473	Narrow anterio-posterior vertebral body diameter	biolink:OntologyClass	hp	UMLS:C4021540	An abnormal reduction of the anterioposterior diameter of the vertebral body.	http://purl.obolibrary.org/obo/HP_0008473		Reduced anterior-posterior diameter of vertebral bodies|Reduced sagittal diameter of vertebrae
OBO:HP_0008475	Hypoplastic sacral vertebrae	biolink:OntologyClass	hp	UMLS:C2751479		http://purl.obolibrary.org/obo/HP_0008475		
OBO:HP_0008476	Irregular sclerotic endplates	biolink:OntologyClass	hp	UMLS:C1868554		http://purl.obolibrary.org/obo/HP_0008476		irregular, dense end plate
OBO:HP_0008477	Poorly ossified cervical vertebrae	biolink:OntologyClass	hp	UMLS:C4024670	Decreased ossification of the cervical vertebral bodies, i.e., of the Cervical vertebrae set.	http://purl.obolibrary.org/obo/HP_0008477		
OBO:HP_0008478	Scheuermann-like vertebral changes	biolink:OntologyClass	hp	UMLS:C1844926		http://purl.obolibrary.org/obo/HP_0008478		
OBO:HP_0008479	Hypoplastic vertebral bodies	biolink:OntologyClass	hp	UMLS:C1863353		http://purl.obolibrary.org/obo/HP_0008479		Underdeveloped back bones|Small vertebrae|Small vertebral bodies
OBO:HP_0008480	Cervical spondylosis	biolink:OntologyClass	hp	MSH:D055009|SNOMEDCT_US:387800004|SNOMEDCT_US:387801000|UMLS:C0263854|UMLS:C1384641	The presence of arthrosis, i.e., of degenerative joint disease, affecting the cervical vertebral column.	http://purl.obolibrary.org/obo/HP_0008480		Neck arthritis|Cervical oestoarthritis
OBO:HP_0008482	Asymmetry of spinal facet joints	biolink:OntologyClass	hp	UMLS:C4024669		http://purl.obolibrary.org/obo/HP_0008482		
OBO:HP_0008483	Cervical vertebral bodies with decreased anteroposterior diameter	biolink:OntologyClass	hp	UMLS:C1847393		http://purl.obolibrary.org/obo/HP_0008483		
OBO:HP_0008484	Thoracolumbar interpediculate narrowness	biolink:OntologyClass	hp	UMLS:C1864364	A reduction of the distance between thoracolumbar vertebral pedicles.	http://purl.obolibrary.org/obo/HP_0008484		Narrow thoracolumbar interpediculate distance
OBO:HP_0008486	Lumbar interpedicular narrowing	biolink:OntologyClass	hp	UMLS:C1849079	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.	http://purl.obolibrary.org/obo/HP_0008486		Decreasing lumbar vertebrae interpediculate distance
OBO:HP_0008488	Anterior rounding of vertebral bodies	biolink:OntologyClass	hp	UMLS:C1850043		http://purl.obolibrary.org/obo/HP_0008488		
OBO:HP_0008489	Spondylolisthesis at L5-S1	biolink:OntologyClass	hp	UMLS:C3275799	Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the fifth lumbar vertebral body (L5) onto the sacrum (level S1).	http://purl.obolibrary.org/obo/HP_0008489		Spondylolysis and spondylolisthesis of l5
OBO:HP_0008490	Sacral segmentation defect	biolink:OntologyClass	hp	UMLS:C1850329		http://purl.obolibrary.org/obo/HP_0008490		
OBO:HP_0008491	Premature anterior fontanel closure	biolink:OntologyClass	hp	UMLS:C4024668	Early closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life.	http://purl.obolibrary.org/obo/HP_0008491		
OBO:HP_0008494	Inferior lens subluxation	biolink:OntologyClass	hp	UMLS:C2036842	Partial displacement of the lens in the inferior direction.	http://purl.obolibrary.org/obo/HP_0008494		Inferior subluxated lens
OBO:HP_0008496	Multiple rows of eyelashes	biolink:OntologyClass	hp	SNOMEDCT_US:95339000|UMLS:C0423848|UMLS:C3550336		http://purl.obolibrary.org/obo/HP_0008496		Extra rows of eyelashes|Multiple rows of eyelashes|Double row of eyelashes|Two rows of eyelashes
OBO:HP_0008497	Congenital craniofacial dysostosis	biolink:OntologyClass	hp	UMLS:C4024667		http://purl.obolibrary.org/obo/HP_0008497		
OBO:HP_0008498	No permanent dentition	biolink:OntologyClass	hp	UMLS:C4024666		http://purl.obolibrary.org/obo/HP_0008498		Absence of adult teeth|Missing adult teeth|Absence of secondary dentition|No adult dentition|No secondary dentition
OBO:HP_0008499	High hypermetropia	biolink:OntologyClass	hp	UMLS:C4024665	A severe form of hypermetropia with over +5.00 diopters.	http://purl.obolibrary.org/obo/HP_0008499		Severe farsightedness|Severe long-sightedness|High hyperopia|High-grade hypermetropia
OBO:HP_0008501	Median cleft lip and palate	biolink:OntologyClass	hp	UMLS:C2750604	Cleft lip or palate affecting the midline region of the palate.	http://purl.obolibrary.org/obo/HP_0008501		Central cleft lip and palate|Midline cleft lip/palate|Medial cleft lip and palate|Wide midline cleft lip/palate
OBO:HP_0008504	Moderate sensorineural hearing impairment	biolink:OntologyClass	hp	UMLS:C4020798|UMLS:C4024664	The presence of a moderate form of sensorineural hearing impairment.	http://purl.obolibrary.org/obo/HP_0008504		Moderate neural deafness
OBO:HP_0008507	Static ophthalmoparesis	biolink:OntologyClass	hp	UMLS:C4024663		http://purl.obolibrary.org/obo/HP_0008507		
OBO:HP_0008509	Aged leonine appearance	biolink:OntologyClass	hp	UMLS:C3550331		http://purl.obolibrary.org/obo/HP_0008509		
OBO:HP_0008511	Central posterior corneal opacity	biolink:OntologyClass	hp	SNOMEDCT_US:246967007|UMLS:C0423260	Reduced transparency of the central posterior portion of the corneal stroma.	http://purl.obolibrary.org/obo/HP_0008511		
OBO:HP_0008513	Bilateral conductive hearing impairment	biolink:OntologyClass	hp	SNOMEDCT_US:194417009|UMLS:C0452136	A bilateral type of conductive hearing impairment.	http://purl.obolibrary.org/obo/HP_0008513		Bilateral conductive deafness|Bilateral conductive hearing loss
OBO:HP_0008515	Aplasia/Hypoplasia of the vertebrae	biolink:OntologyClass	hp	UMLS:C4024662		http://purl.obolibrary.org/obo/HP_0008515		Absent/small vertebrae|Absent/underdeveloped vertebrae
OBO:HP_0008516	Abnormality of the vertebral spinous processes	biolink:OntologyClass	hp	UMLS:C4024661		http://purl.obolibrary.org/obo/HP_0008516		
OBO:HP_0008517	Aplasia/Hypoplasia of the sacrum	biolink:OntologyClass	hp	UMLS:C4024660	Aplasia or developmental hypoplasia of the sacral bone.	http://purl.obolibrary.org/obo/HP_0008517		Absent/small sacrum|Absent/underdeveloped sacrum
OBO:HP_0008518	Aplasia/Hypoplasia involving the vertebral column	biolink:OntologyClass	hp	UMLS:C4024659		http://purl.obolibrary.org/obo/HP_0008518		Absent/small backbone|Absent/small spine|Absent/small vertebral column|Absent/underdeveloped backbone|Absent/underdeveloped spine|Absent/underdeveloped vertebral column
OBO:HP_0008519	Abnormal coccyx morphology	biolink:OntologyClass	hp	UMLS:C4024658	Any structural abnormality of the coccyx.	http://purl.obolibrary.org/obo/HP_0008519		Abnormal tailbone|Abnormality of the coccyx
OBO:HP_0008523	Posterior helix pit	biolink:OntologyClass	hp	UMLS:C4021539	Permanent indentation on the posteromedial aspect of the helix that may be sharply or indistinctly delineated.	http://purl.obolibrary.org/obo/HP_0008523	hposlim_core	Indentation in back of outer ear|Ear, posterior helical groove|Ear, posterior helical notch|Helix, posterior pit|Pits in posterior aspect of ear helices
OBO:HP_0008527	Congenital sensorineural hearing impairment	biolink:OntologyClass	hp	SNOMEDCT_US:700453005|UMLS:C1865866	A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset.	http://purl.obolibrary.org/obo/HP_0008527		Bilateral congenital sensorineural deafness|Congenital neurosensory deafness|Congenital perceptive deafness|Congenital sensorineural deafness|Congenital sensorineural hearing loss|Hearing loss, congenital sensorineural
OBO:HP_0008528	Long hairs growing from helix of pinna	biolink:OntologyClass	hp	SNOMEDCT_US:27394002|UMLS:C0222050|UMLS:C4024657		http://purl.obolibrary.org/obo/HP_0008528		Ear hair|Long hairs growing from helix of ear
OBO:HP_0008529	Absence of acoustic reflex	biolink:OntologyClass	hp	UMLS:C1832834	Absence of the acoustic reflex, an involuntary contraction of the stapedius muscle that occurs in response to high-intensity sound stimuli.	http://purl.obolibrary.org/obo/HP_0008529		Absence of acoustic middle ear muscle reflexes|Absent middle ear reflexes
OBO:HP_0008537	Cleft at the superior portion of the pinna	biolink:OntologyClass	hp	UMLS:C1865302		http://purl.obolibrary.org/obo/HP_0008537		Cleft at the superior portion of the ear
OBO:HP_0008541	Superiorly displaced ears	biolink:OntologyClass	hp	UMLS:C1850190		http://purl.obolibrary.org/obo/HP_0008541		High set ears
OBO:HP_0008542	Low-frequency hearing loss	biolink:OntologyClass	hp	SNOMEDCT_US:42538001|UMLS:C0271514	A type of hearing impairment affecting primarily the low frequencies of sound (125 Hz to 1000 Hz).	http://purl.obolibrary.org/obo/HP_0008542		Low-frequency hearing loss
OBO:HP_0008544	Abnormally folded helix	biolink:OntologyClass	hp	UMLS:C1970777		http://purl.obolibrary.org/obo/HP_0008544		
OBO:HP_0008551	Microtia	biolink:OntologyClass	hp	MSH:D065817|SNOMEDCT_US:35045004|UMLS:C0152423	Underdevelopment of the external ear.	http://purl.obolibrary.org/obo/HP_0008551	hposlim_core	Small ears|Underdeveloped ears|Bilateral microtia|Hypoplasia of the external ear|Hypoplastic ears|Hypoplastic pinna|Small pinnae
OBO:HP_0008554	Cochlear malformation	biolink:OntologyClass	hp	UMLS:C1862050	The presence of a malformed cochlea.	http://purl.obolibrary.org/obo/HP_0008554		
OBO:HP_0008555	Absent vestibular function	biolink:OntologyClass	hp	UMLS:C4024656	Complete lack of functioning of the vestibular apparatus.	http://purl.obolibrary.org/obo/HP_0008555		
OBO:HP_0008559	Hypoplastic superior helix	biolink:OntologyClass	hp	UMLS:C1865305		http://purl.obolibrary.org/obo/HP_0008559		Underdeveloped superior helices
OBO:HP_0008568	Vestibular areflexia	biolink:OntologyClass	hp	SNOMEDCT_US:22443004|UMLS:C0235927|UMLS:C4015052	Vestibular areflexia can be measured as the absence of the caloric nystagmus response in electronystagmography.	http://purl.obolibrary.org/obo/HP_0008568		Vestibular ataxia
OBO:HP_0008569	Microtia, second degree	biolink:OntologyClass	hp	UMLS:C4020694|UMLS:C4020792|UMLS:C4020793|UMLS:C4020794|UMLS:C4020795|UMLS:C4020796|UMLS:C4020797	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.	http://purl.obolibrary.org/obo/HP_0008569		Cockleshell ear|Mini ear|Shell ear|Snail ear|Constricted helix type IV|Ear, grade II dysplasia|Severe cupped ear, type III
OBO:HP_0008572	External ear malformation	biolink:OntologyClass	hp	UMLS:C1846460	A malformation of the auricle of the ear.	http://purl.obolibrary.org/obo/HP_0008572		External ear malformation
OBO:HP_0008573	Low-frequency sensorineural hearing impairment	biolink:OntologyClass	hp	UMLS:C3810445	A form of sensorineural hearing impairment that affects primarily the lower frequencies.	http://purl.obolibrary.org/obo/HP_0008573		Low-frequency sensorineural hearing loss
OBO:HP_0008577	Underfolded helix	biolink:OntologyClass	hp	UMLS:C1849735	Underdevelopment of the helix that either affects the entire helix, or is localized.	http://purl.obolibrary.org/obo/HP_0008577		Poorly folded helices
OBO:HP_0008583	Underfolded superior helices	biolink:OntologyClass	hp	UMLS:C4024655	A condition in which the superior portion of the helix is folded over to a lesser degree than normal.	http://purl.obolibrary.org/obo/HP_0008583		
OBO:HP_0008586	Hypoplasia of the cochlea	biolink:OntologyClass	hp	UMLS:C2676974	Developmental hypoplasia of the cochlea.	http://purl.obolibrary.org/obo/HP_0008586		Hypoplastic cochlea|Underdeveloped cochlea
OBO:HP_0008587	Mild neurosensory hearing impairment	biolink:OntologyClass	hp	UMLS:C4021538	The presence of a mild form of sensorineural hearing impairment.	http://purl.obolibrary.org/obo/HP_0008587		Mild neurosensory hearing loss
OBO:HP_0008588	Slit-like opening of the exterior auditory meatus	biolink:OntologyClass	hp	UMLS:C1846459	A type of stenosis of the external auditory meatus in which the opening of the external auditory meatus appears as a vertical slit.	http://purl.obolibrary.org/obo/HP_0008588		
OBO:HP_0008589	Hypoplastic helices	biolink:OntologyClass	hp	UMLS:C1842681	Underdevelopment of the helix, i.e., of the outer rim of the pinna.	http://purl.obolibrary.org/obo/HP_0008589		Underdeveloped helices
OBO:HP_0008591	Congenital conductive hearing impairment	biolink:OntologyClass	hp	UMLS:C4021537	A type of conductive deafness with congenital onset.	http://purl.obolibrary.org/obo/HP_0008591		Congenital conductive deafness|Congenital conductive hearing loss
OBO:HP_0008593	Prominent antitragus	biolink:OntologyClass	hp	UMLS:C1968811	Increased anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix.	http://purl.obolibrary.org/obo/HP_0008593		Enlarged antitragus|Hyperplastic antitragus|Hypertrophic antitragus
OBO:HP_0008596	Postlingual sensorineural hearing impairment	biolink:OntologyClass	hp	UMLS:C4024654	A form of sensorineural hearing impairment with onset after the acquisition of speech.	http://purl.obolibrary.org/obo/HP_0008596		
OBO:HP_0008598	Mild conductive hearing impairment	biolink:OntologyClass	hp	UMLS:C4021536	A mild form of conductive hearing impairment.	http://purl.obolibrary.org/obo/HP_0008598		Conductive hearing loss, mild
OBO:HP_0008605	Unilateral external ear deformity	biolink:OntologyClass	hp	UMLS:C1834043		http://purl.obolibrary.org/obo/HP_0008605		Deformed external ear on one side
OBO:HP_0008606	Supraauricular pit	biolink:OntologyClass	hp	UMLS:C1862059	Benign congenital lesion of the supraauricular soft tissue consisting of a blind-ending narrow tube or pit.	http://purl.obolibrary.org/obo/HP_0008606		Pit above the ear|Supraauricular fistula|Supraauricular sinus|Supraauricular sinuses
OBO:HP_0008607	Progressive conductive hearing impairment	biolink:OntologyClass	hp	UMLS:C1861325	A progressive type of conductive deafness.	http://purl.obolibrary.org/obo/HP_0008607		Progressive conductive deafness
OBO:HP_0008608	Hypertrophic auricular cartilage	biolink:OntologyClass	hp	UMLS:C1857263		http://purl.obolibrary.org/obo/HP_0008608		
OBO:HP_0008609	Morphological abnormality of the middle ear	biolink:OntologyClass	hp	UMLS:C1857456	An abnormality of the morphology or structure of the middle ear.	http://purl.obolibrary.org/obo/HP_0008609		Middle ear malformation|Morphological abnormality of the middle ear
OBO:HP_0008610	Infantile sensorineural hearing impairment	biolink:OntologyClass	hp	UMLS:C4021535	A form of sensorineural hearing impairment with infantile onset.	http://purl.obolibrary.org/obo/HP_0008610		Infantile sensorineural hearing loss
OBO:HP_0008615	Adult onset sensorineural hearing impairment	biolink:OntologyClass	hp	UMLS:C4021534	The presence of sensorineural deafness with late onset.	http://purl.obolibrary.org/obo/HP_0008615		Late sensorineural hearing loss|Sensorineural deafness, late-onset
OBO:HP_0008619	Bilateral sensorineural hearing impairment	biolink:OntologyClass	hp	SNOMEDCT_US:194424005|UMLS:C0452138	A bilateral form of sensorineural hearing impairment.	http://purl.obolibrary.org/obo/HP_0008619		Bilateral nerve deafness|Bilateral sensorineural deafness|Bilateral sensorineural hearing loss|Hearing loss, sensorineural, bilateral
OBO:HP_0008625	Severe sensorineural hearing impairment	biolink:OntologyClass	hp	UMLS:C4021533	A severe form of sensorineural hearing impairment.	http://purl.obolibrary.org/obo/HP_0008625		Severe sensorineural deafness|Severe sensorineural hearing loss
OBO:HP_0008628	Abnormality of the stapes	biolink:OntologyClass	hp	UMLS:C4021532	An abnormality of the stapes, a stirrup-shaped ossicle in the middle ear.	http://purl.obolibrary.org/obo/HP_0008628		Stapedial abnormalities
OBO:HP_0008629	Pulsatile tinnitus	biolink:OntologyClass	hp	MSH:D014012|SNOMEDCT_US:232322006|UMLS:C0751559	Pulsatile tinnitus is generally classified a kind of objective tinnitus, meaning that it is not only audible to the patient but also to the examiner on auscultation of the auditory canal and/or of surrounding structures with use of an auscultation tube or stethoscope. Usually, pulsatile tinnitus is heard as a lower pitched thumping or booming, a rougher blowing sound which is coincidental with respiration, or as a clicking, higher pitched rhythmic sensation. Pulsatile tinnitus may be associated with vascular abnormalities such as arterioevenous shunts or glomus tumors or the jugular vein, arterial bruits related to a high-riding carotid artery (close to the auditory areas) or carotid stenosis, or venous abnormalities such as a dehiscent jugular bulb or to hypertension. Finally, in some patients, mechanical abnormalities such a spatulous eustachian tubes, palatomyoclonus (small spasms of muscles in the soft palate area), or idiopathic stapedial muscle spasm may represent the underlying cause of pulsatile tinnitus.	http://purl.obolibrary.org/obo/HP_0008629		
OBO:HP_0008631	Ureteral dysgenesis	biolink:OntologyClass	hp	UMLS:C4024653	A developmental anomaly of the ureter.	http://purl.obolibrary.org/obo/HP_0008631		
OBO:HP_0008633	Agonadism	biolink:OntologyClass	hp	UMLS:C4024652	Absence of sex glands (gonads are the organs that produce gametes; testis in males and ovary in females).	http://purl.obolibrary.org/obo/HP_0008633		Absent gonadal tissue|Gonadal agenesis
OBO:HP_0008635	Hypertrophy of the urinary bladder	biolink:OntologyClass	hp	UMLS:C4021531	Abnormal enlargement of the urinary bladder.	http://purl.obolibrary.org/obo/HP_0008635		Hypertrophic urinary bladder
OBO:HP_0008636	Lobular glomerulopathy	biolink:OntologyClass	hp	UMLS:C4024651		http://purl.obolibrary.org/obo/HP_0008636		
OBO:HP_0008639	Gonadal hypoplasia	biolink:OntologyClass	hp	UMLS:C0239761		http://purl.obolibrary.org/obo/HP_0008639		Underdeveloped gonad
OBO:HP_0008640	Congenital macroorchidism	biolink:OntologyClass	hp	UMLS:C4024650		http://purl.obolibrary.org/obo/HP_0008640		
OBO:HP_0008643	Nephroblastomatosis	biolink:OntologyClass	hp	UMLS:C2675558	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.	http://purl.obolibrary.org/obo/HP_0008643		
OBO:HP_0008647	Pubertal developmental failure in females	biolink:OntologyClass	hp	UMLS:C4024649		http://purl.obolibrary.org/obo/HP_0008647		
OBO:HP_0008648	Anteriorly displaced urethral meatus	biolink:OntologyClass	hp	UMLS:C4024648		http://purl.obolibrary.org/obo/HP_0008648		
OBO:HP_0008651	Uric acid urolithiasis independent of gout	biolink:OntologyClass	hp	UMLS:C4024647		http://purl.obolibrary.org/obo/HP_0008651		
OBO:HP_0008652	Autonomic erectile dysfunction	biolink:OntologyClass	hp	UMLS:C1868524	Impotence (inability to develop or maintain an erection) resulting from abnormal functioning of the autonomic nervous system.	http://purl.obolibrary.org/obo/HP_0008652		Impotence due to autonomic dysfunction
OBO:HP_0008653	Crescentic glomerulonephritis	biolink:OntologyClass	hp	SNOMEDCT_US:236398000|UMLS:C0403416	A type of extracapillary glomerulonephritis characterized by the formation of crescent-like cellular proliferation.	http://purl.obolibrary.org/obo/HP_0008653		
OBO:HP_0008655	Aplasia/Hypoplasia of the fallopian tube	biolink:OntologyClass	hp	UMLS:C4020791|UMLS:C4024646	Aplasia or developmental hypoplasia of the fallopian tube.	http://purl.obolibrary.org/obo/HP_0008655		Absent/small fallopian tube|Absent/underdeveloped fallopian tube|Absent or rudimentary fallopian tubes
OBO:HP_0008656	Incomplete male pseudohermaphroditism	biolink:OntologyClass	hp	UMLS:C4024645		http://purl.obolibrary.org/obo/HP_0008656		
OBO:HP_0008659	Multiple small medullary renal cysts	biolink:OntologyClass	hp	SNOMEDCT_US:204958008|UMLS:C0687120|UMLS:C4020790|UMLS:C4024644	The presence of many cysts in the medulla of the kidney.	http://purl.obolibrary.org/obo/HP_0008659		Medullary cystic disease|Medullary sponge kidney disease
OBO:HP_0008660	Renotubular dysgenesis	biolink:OntologyClass	hp	MSH:C537048|SNOMEDCT_US:702397002|UMLS:C0266313	A developmental defect characterized by absence or poor development of proximal renal tubules.	http://purl.obolibrary.org/obo/HP_0008660		Renal tubular dysgenesis
OBO:HP_0008661	Urethral stenosis	biolink:OntologyClass	hp	MSH:D014525|SNOMEDCT_US:236647003|SNOMEDCT_US:76618002|UMLS:C0041974	Abnormal narrowing of the urethra.	http://purl.obolibrary.org/obo/HP_0008661		Narrowing of the urethra
OBO:HP_0008663	Renal sarcoma	biolink:OntologyClass	hp	NCIT:C3158|SNOMEDCT_US:254918001|UMLS:C0346251	A sarcoma of the kidney.	http://purl.obolibrary.org/obo/HP_0008663		
OBO:HP_0008664	Urethral sphincter sclerosis	biolink:OntologyClass	hp	UMLS:C4024643		http://purl.obolibrary.org/obo/HP_0008664		
OBO:HP_0008665	Clitoral hypertrophy	biolink:OntologyClass	hp	SNOMEDCT_US:80212005|UMLS:C0156394	Hypertrophy of the clitoris.	http://purl.obolibrary.org/obo/HP_0008665		Enlarged clitoris|Clitoral enlargement|Clitoromegaly|Hypertrophic clitoris|Prominent clitoris
OBO:HP_0008666	Impaired histidine renal tubular absorption	biolink:OntologyClass	hp	UMLS:C4024642		http://purl.obolibrary.org/obo/HP_0008666		
OBO:HP_0008668	Gonadal dysgenesis, male	biolink:OntologyClass	hp	MSH:D006061|UMLS:C0018054	Unusual gonadal development in a person with a 46,XY male karyotype, leading to an unassigned sex differentiation.	http://purl.obolibrary.org/obo/HP_0008668		46,xy gonadal dysgenesis
OBO:HP_0008669	Abnormal spermatogenesis	biolink:OntologyClass	hp	SNOMEDCT_US:4529005|UMLS:C0520933|UMLS:C4020789	Incomplete maturation or aberrant formation of the male gametes.	http://purl.obolibrary.org/obo/HP_0008669		Abnormal sperm development|Impaired spermatogenesis
OBO:HP_0008670	Partial vaginal septum	biolink:OntologyClass	hp	UMLS:C0750088		http://purl.obolibrary.org/obo/HP_0008670		
OBO:HP_0008672	Calcium oxalate nephrolithiasis	biolink:OntologyClass	hp	MSH:C563477|SNOMEDCT_US:444717006|UMLS:C1833683|UMLS:C4280806	The presence of calcium- and oxalate-containing calculi (stones) in the kidneys.	http://purl.obolibrary.org/obo/HP_0008672		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
OBO:HP_0008675	Enlarged polycystic ovaries	biolink:OntologyClass	hp	UMLS:C4024641		http://purl.obolibrary.org/obo/HP_0008675		Enlarged ovaries with cysts
OBO:HP_0008676	Congenital megaureter	biolink:OntologyClass	hp	SNOMEDCT_US:718485003|SNOMEDCT_US:95576001|UMLS:C0266324	A developmental disturbance with extreme ureteral dilatation.	http://purl.obolibrary.org/obo/HP_0008676		Congenital megaloureter
OBO:HP_0008677	Congenital nephrotic syndrome	biolink:OntologyClass	hp	MSH:C535761|SNOMEDCT_US:48796009|UMLS:C3501848	Nephrotic syndrome with onset within the first three months of life.	http://purl.obolibrary.org/obo/HP_0008677		Congenital nephrosis
OBO:HP_0008678	Renal hypoplasia/aplasia	biolink:OntologyClass	hp	UMLS:C1857453	Absence or underdevelopment of the kidney.	http://purl.obolibrary.org/obo/HP_0008678		Absent/small kidney|Absent/underdeveloped kidney|Renal agenesis/hypoplasia|Renal aplasia/hypoplasia
OBO:HP_0008682	Renal tubular epithelial necrosis	biolink:OntologyClass	hp	MSH:D007683|SNOMEDCT_US:35455006|UMLS:C0022672	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%).	http://purl.obolibrary.org/obo/HP_0008682		Acute tubular necrosis|Renal tubular necrosis
OBO:HP_0008683	Enlarged labia minora	biolink:OntologyClass	hp	UMLS:C1849358	Increase in size of the folds of skin between the outer labia.	http://purl.obolibrary.org/obo/HP_0008683		Hypertrophic labia minora|Labia minora hypertrophy
OBO:HP_0008684	Aplasia/hypoplasia of the uterus	biolink:OntologyClass	hp	UMLS:C4024640	Absence or developmental hypoplasia of the uterus.	http://purl.obolibrary.org/obo/HP_0008684		Absent/small uterus|Absent/underdeveloped uterus
OBO:HP_0008687	Hypoplasia of the prostate	biolink:OntologyClass	hp	UMLS:C1844923		http://purl.obolibrary.org/obo/HP_0008687		Underdeveloped prostate|Hypoplastic prostate
OBO:HP_0008689	Bilateral cryptorchidism	biolink:OntologyClass	hp	MSH:D003456|SNOMEDCT_US:268228006|UMLS:C0431663	Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.	http://purl.obolibrary.org/obo/HP_0008689		Cryptorchidism, bilateral
OBO:HP_0008691	Solitary bladder diverticulum	biolink:OntologyClass	hp	UMLS:C4024639	Presence of a single diverticulum (sac or pouch) in the wall of the urinary bladder.	http://purl.obolibrary.org/obo/HP_0008691		
OBO:HP_0008694	obsolete Hypertrophic labia minora	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0008694		
OBO:HP_0008695	Transient nephrotic syndrome	biolink:OntologyClass	hp	UMLS:C4024638		http://purl.obolibrary.org/obo/HP_0008695		Transient nephrosis
OBO:HP_0008696	Renal hamartoma	biolink:OntologyClass	hp	UMLS:C1840396	A disordered proliferation of mature tissues that are native to the kidneys.	http://purl.obolibrary.org/obo/HP_0008696		
OBO:HP_0008697	Hypoplasia of the fallopian tube	biolink:OntologyClass	hp	UMLS:C1968706	Developmental hypoplasia of the fallopian tube.	http://purl.obolibrary.org/obo/HP_0008697		Underdeveloped fallopian tube|Rudimentary fallopian tubes
OBO:HP_0008702	Absent internal genitalia	biolink:OntologyClass	hp	UMLS:C4024637		http://purl.obolibrary.org/obo/HP_0008702		
OBO:HP_0008703	Gonadal calcification	biolink:OntologyClass	hp	UMLS:C4024636	Deposition of calcium salts in gonadal tissue.	http://purl.obolibrary.org/obo/HP_0008703		
OBO:HP_0008705	Ureteral triplication	biolink:OntologyClass	hp	UMLS:C4024635		http://purl.obolibrary.org/obo/HP_0008705		
OBO:HP_0008706	Distal urethral duplication	biolink:OntologyClass	hp	UMLS:C4024634		http://purl.obolibrary.org/obo/HP_0008706		
OBO:HP_0008707	Absent scrotum	biolink:OntologyClass	hp	SNOMEDCT_US:249233008|UMLS:C0426320	Congenital absence of the scrotum.	http://purl.obolibrary.org/obo/HP_0008707		Absent scrotum
OBO:HP_0008708	Partial development of the penile shaft	biolink:OntologyClass	hp	UMLS:C1837379		http://purl.obolibrary.org/obo/HP_0008708		
OBO:HP_0008711	Benign prostatic hyperplasia	biolink:OntologyClass	hp	MSH:D011470|SNOMEDCT_US:266569009|UMLS:C0005001|UMLS:C1704272	The presence of non-malignant hyperplasia of the prostate.	http://purl.obolibrary.org/obo/HP_0008711		Benign prostatic hypertrophy
OBO:HP_0008714	Ureterovesical stenosis	biolink:OntologyClass	hp	UMLS:C4024633		http://purl.obolibrary.org/obo/HP_0008714		
OBO:HP_0008715	Testicular dysgenesis	biolink:OntologyClass	hp	SNOMEDCT_US:253847002|UMLS:C0302885		http://purl.obolibrary.org/obo/HP_0008715		
OBO:HP_0008716	Urethrovaginal fistula	biolink:OntologyClass	hp	SNOMEDCT_US:50477003|UMLS:C0269133	The presence of a fistula between the vagina and the urethra.	http://purl.obolibrary.org/obo/HP_0008716		Urethrovaginal fistulae
OBO:HP_0008717	Unilateral renal atrophy	biolink:OntologyClass	hp	SNOMEDCT_US:424998002|UMLS:C1827184	A unilateral form of atrophy of the kidney.	http://purl.obolibrary.org/obo/HP_0008717		Kidney degeneration on one side|Unilateral kidney wasting
OBO:HP_0008718	Unilateral renal dysplasia	biolink:OntologyClass	hp	SNOMEDCT_US:204951002|UMLS:C0431697	A unilateral form of developmental dysplasia of the kidney.	http://purl.obolibrary.org/obo/HP_0008718		
OBO:HP_0008720	Primary testicular failure	biolink:OntologyClass	hp	SNOMEDCT_US:370997001|SNOMEDCT_US:48723006|UMLS:C1384582		http://purl.obolibrary.org/obo/HP_0008720		
OBO:HP_0008722	Urethral diverticulum	biolink:OntologyClass	hp	SNOMEDCT_US:90531003|UMLS:C0152443	The presence of a diverticulum (sac or pouch) in the wall of the urethra.	http://purl.obolibrary.org/obo/HP_0008722		
OBO:HP_0008723	Gonadal dysgenesis with female appearance, male	biolink:OntologyClass	hp	UMLS:C4020788|UMLS:C4024632	Unusual gonadal development in a person with a 46,XY male karyotype, leading to a more female sex differentiation.	http://purl.obolibrary.org/obo/HP_0008723		Xy female gonadal dysgenesis
OBO:HP_0008724	Hypoplasia of the ovary	biolink:OntologyClass	hp	SNOMEDCT_US:93279005|UMLS:C0685840|UMLS:C1835452	Developmental hypoplasia of the ovary.	http://purl.obolibrary.org/obo/HP_0008724		Underdeveloped ovary|Hypoplastic ovary
OBO:HP_0008726	Hypoplasia of the vagina	biolink:OntologyClass	hp	SNOMEDCT_US:253836009|UMLS:C0345309|UMLS:C1442988	Developmental hypoplasia of the vagina.	http://purl.obolibrary.org/obo/HP_0008726		Underdeveloped vagina|Rudimentary vagina|Hypoplastic vagina
OBO:HP_0008729	Absence of labia majora	biolink:OntologyClass	hp	UMLS:C1849575		http://purl.obolibrary.org/obo/HP_0008729		Absent vaginal lips
OBO:HP_0008730	Female external genitalia in individual with 46,XY karyotype	biolink:OntologyClass	hp	UMLS:C1848178	The presence of female external genitalia in a person with a male karyotype.	http://purl.obolibrary.org/obo/HP_0008730		Males with female external genitalia
OBO:HP_0008732	Renal hypophosphatemia	biolink:OntologyClass	hp	UMLS:C4024631	Renal hypophosphatemia is defined as reduced serum phosphate (e.g., below 0.70 mmol/l) and an inappropriately high renal phosphate excretion.	http://purl.obolibrary.org/obo/HP_0008732		
OBO:HP_0008733	Dysplastic testes	biolink:OntologyClass	hp	UMLS:C1837380		http://purl.obolibrary.org/obo/HP_0008733		
OBO:HP_0008734	Decreased testicular size	biolink:OntologyClass	hp	SNOMEDCT_US:276411001|UMLS:C0241355	Reduced volume of the testicle (the male gonad).	http://purl.obolibrary.org/obo/HP_0008734		Decreased testicular size|Small testes|Small testis|Hypoplastic testes|Testicular hypoplasia
OBO:HP_0008736	Hypoplasia of penis	biolink:OntologyClass	hp	SNOMEDCT_US:34911001|UMLS:C0266435		http://purl.obolibrary.org/obo/HP_0008736		Underdeveloped penis
OBO:HP_0008738	Partially duplicated kidney	biolink:OntologyClass	hp	UMLS:C4024630	The presence of a partially duplicated kidney.	http://purl.obolibrary.org/obo/HP_0008738		Partially duplicated kidney
OBO:HP_0008739	Labial pseudohypertrophy	biolink:OntologyClass	hp	UMLS:C1835380		http://purl.obolibrary.org/obo/HP_0008739		
OBO:HP_0008740	Longitudinal vaginal septum	biolink:OntologyClass	hp	UMLS:C1841680	The presence of a longitudinal vaginal septum, thereby creating a vaginal duplication.	http://purl.obolibrary.org/obo/HP_0008740		Vertical vaginal septum
OBO:HP_0008742	Prominent prostate median bar	biolink:OntologyClass	hp	UMLS:C4024629		http://purl.obolibrary.org/obo/HP_0008742		
OBO:HP_0008743	Coronal hypospadias	biolink:OntologyClass	hp	SNOMEDCT_US:429641000124109|UMLS:C1394030|UMLS:C4020787	A mild form of hypospadias in which the urethra opens just under the corona glandis.	http://purl.obolibrary.org/obo/HP_0008743		Subcoronal hypospadias
OBO:HP_0008744	Abnormal aryepiglottic fold morphology	biolink:OntologyClass	hp	UMLS:C1849357	An abnormality of the aryepiglottic fold.	http://purl.obolibrary.org/obo/HP_0008744		Abnormal aryepiglottic folds|Abnormality of the aryepiglottic fold
OBO:HP_0008747	Cartilaginous ossification of larynx	biolink:OntologyClass	hp	UMLS:C1855622	Ossification affecting the set of cartilages of larynx.	http://purl.obolibrary.org/obo/HP_0008747		
OBO:HP_0008749	Laryngeal hypoplasia	biolink:OntologyClass	hp	SNOMEDCT_US:253736003|UMLS:C0431527	Underdevelopment of the larynx.	http://purl.obolibrary.org/obo/HP_0008749		Hypoplastic larynx
OBO:HP_0008750	Laryngeal atresia	biolink:OntologyClass	hp	SNOMEDCT_US:64981002|UMLS:C0265756	Congenital absence of the lumen of the larynx.	http://purl.obolibrary.org/obo/HP_0008750		
OBO:HP_0008751	Laryngeal cleft	biolink:OntologyClass	hp	MSH:C537875|SNOMEDCT_US:232461002|UMLS:C1840311	Presence of a gap in the posterior laryngotracheal wall with a continuity between the larynx and the esopahagus.	http://purl.obolibrary.org/obo/HP_0008751		Laryngotracheal cleft|Laryngotracheoesophageal cleft i
OBO:HP_0008752	Laryngeal cartilage malformation	biolink:OntologyClass	hp	UMLS:C4021530	A malformation of the laryngeal cartilage.	http://purl.obolibrary.org/obo/HP_0008752		Vocal impairment, severe, due to laryngeal cartilage abnormalities
OBO:HP_0008753	Aplasia of the epiglottis	biolink:OntologyClass	hp	UMLS:C4024628	Absence of the epiglottis.	http://purl.obolibrary.org/obo/HP_0008753		Absent epiglottis
OBO:HP_0008754	Laryngeal calcification	biolink:OntologyClass	hp	UMLS:C1859158	Calcification (abnormal deposits of calcium) in the laryngeal tissues.	http://purl.obolibrary.org/obo/HP_0008754		Laryngeal calcifications
OBO:HP_0008755	Laryngotracheomalacia	biolink:OntologyClass	hp	SNOMEDCT_US:308232009|UMLS:C0585984		http://purl.obolibrary.org/obo/HP_0008755		
OBO:HP_0008756	Bowing of the vocal cords	biolink:OntologyClass	hp	SNOMEDCT_US:232448002|UMLS:C0396064	Bowing (abnormal curvature) of the vocal folds.	http://purl.obolibrary.org/obo/HP_0008756		
OBO:HP_0008757	Unilateral vocal cord paralysis	biolink:OntologyClass	hp	MSH:D014826|UMLS:C0751575	A loss of the ability to move the vocal fold on one side.	http://purl.obolibrary.org/obo/HP_0008757		Unilateral paralysis of the vocal cord
OBO:HP_0008760	Violent behavior	biolink:OntologyClass	hp	SNOMEDCT_US:248004009|UMLS:C0424323		http://purl.obolibrary.org/obo/HP_0008760		Violent behavior|Violent behaviour
OBO:HP_0008762	Repetitive compulsive behavior	biolink:OntologyClass	hp	UMLS:C1969697		http://purl.obolibrary.org/obo/HP_0008762		Repetitive compulsive behavior|Repetitive compulsive behaviour
OBO:HP_0008763	No social interaction	biolink:OntologyClass	hp	UMLS:C1849683		http://purl.obolibrary.org/obo/HP_0008763		No social interaction
OBO:HP_0008765	Auditory hallucinations	biolink:OntologyClass	hp	MSH:D006212|SNOMEDCT_US:45150006|UMLS:C0233762		http://purl.obolibrary.org/obo/HP_0008765		Hallucinations of sound|Hearing sounds
OBO:HP_0008767	Self-mutilation of tongue and lips due to involuntary movements	biolink:OntologyClass	hp	UMLS:C1860219		http://purl.obolibrary.org/obo/HP_0008767		Self-mutilation of tongue and lips due to involuntary movements
OBO:HP_0008768	Inappropriate sexual behavior	biolink:OntologyClass	hp	SNOMEDCT_US:248099006|UMLS:C0474420		http://purl.obolibrary.org/obo/HP_0008768		Inappropriate sexual behavior|Inappropriate sexual behaviour
OBO:HP_0008770	Obsessive-compulsive trait	biolink:OntologyClass	hp	UMLS:C1834433	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.	http://purl.obolibrary.org/obo/HP_0008770		Obsessive-compulsive trait|Obsessive-compulsive traits
OBO:HP_0008771	Aplasia/Hypoplasia of the ear	biolink:OntologyClass	hp	UMLS:C4024627	The presence of aplasia or developmental hypoplasia of the ear.	http://purl.obolibrary.org/obo/HP_0008771		Absent/small ear|Absent/underdeveloped ear
OBO:HP_0008772	Aplasia/Hypoplasia of the external ear	biolink:OntologyClass	hp	UMLS:C4024626	The presence of aplasia or developmental hypoplasia of all or part of the external ear.	http://purl.obolibrary.org/obo/HP_0008772		Absent/small external ear|Absent/underdeveloped external ear
OBO:HP_0008773	Aplasia/Hypoplasia of the middle ear	biolink:OntologyClass	hp	UMLS:C4021529	Aplasia or developmental hypoplasia of all or part of the middle ear.	http://purl.obolibrary.org/obo/HP_0008773		Absent/small middle ear|Absent/underdeveloped middle ear|Hypoplastic/aplastic middle ear structures|Middle ear hypoplasia/aplasia
OBO:HP_0008774	Aplasia/Hypoplasia of the inner ear	biolink:OntologyClass	hp	UMLS:C4024625	Aplasia or developmental hypoplasia of the inner ear.	http://purl.obolibrary.org/obo/HP_0008774		Absent/small inner ear|Absent/underdeveloped inner ear
OBO:HP_0008775	Abnormal prostate morphology	biolink:OntologyClass	hp	UMLS:C0747987	An abnormality of the prostate.	http://purl.obolibrary.org/obo/HP_0008775		Abnormality of the prostate
OBO:HP_0008776	Abnormal renal artery morphology	biolink:OntologyClass	hp	UMLS:C4024624	Any structural abnormality of the renal artery.	http://purl.obolibrary.org/obo/HP_0008776		Abnormal kidney artery|Abnormality of the renal artery
OBO:HP_0008777	Abnormal vocal cord morphology	biolink:OntologyClass	hp	UMLS:C0262665	An abnormality of the vocal cord.	http://purl.obolibrary.org/obo/HP_0008777		Abnormality of the vocal cords
OBO:HP_0008780	Congenital bilateral hip dislocation	biolink:OntologyClass	hp	SNOMEDCT_US:10155006|UMLS:C0158713		http://purl.obolibrary.org/obo/HP_0008780		
OBO:HP_0008783	Wide proximal femoral metaphysis	biolink:OntologyClass	hp	UMLS:C4024623	Increased width of the proximal part of the shaft (metaphysis) of the femur.	http://purl.obolibrary.org/obo/HP_0008783		Wide metaphysis of innermost thighbone
OBO:HP_0008784	Wide capital femoral epiphyses	biolink:OntologyClass	hp	UMLS:C4024622	Abnormally wide morphology of the proximal epiphysis of the femur.	http://purl.obolibrary.org/obo/HP_0008784		Wide end part of innermost thighbone
OBO:HP_0008785	Delayed ossification of pubic rami	biolink:OntologyClass	hp	UMLS:C1865363	Delayed maturation and calcification of the rami (branches) of the pubic bone.	http://purl.obolibrary.org/obo/HP_0008785		
OBO:HP_0008786	Iliac crest serration	biolink:OntologyClass	hp	UMLS:C1857186	Irregularities of the iliac crest that produce the appearance of a lace border around it.	http://purl.obolibrary.org/obo/HP_0008786		Irregular lacy iliac crest|Lacy appearance of iliac crest
OBO:HP_0008788	Delayed pubic bone ossification	biolink:OntologyClass	hp	UMLS:C1861528|UMLS:C1866710|UMLS:C4280411	Delayed maturation and calcification of the pubic bone.	http://purl.obolibrary.org/obo/HP_0008788	hposlim_core	Delayed maturation fo pubic bone|Delayed mineralization of pubic bone|Absent pubic ossification in infancy
OBO:HP_0008789	Cone-shaped capital femoral epiphysis	biolink:OntologyClass	hp	UMLS:C1846157	A cone-shaped deformity of the proximal epiphysis of the femur.	http://purl.obolibrary.org/obo/HP_0008789		Cone-shaped end part of innermost thighbone
OBO:HP_0008794	Dysplastic iliac wings	biolink:OntologyClass	hp	UMLS:C1837487		http://purl.obolibrary.org/obo/HP_0008794		
OBO:HP_0008796	Externally rotated hips	biolink:OntologyClass	hp	UMLS:C1846339		http://purl.obolibrary.org/obo/HP_0008796		Externally rotated hips
OBO:HP_0008797	Early ossification of capital femoral epiphyses	biolink:OntologyClass	hp	UMLS:C4024621	Developmental acceleration of ossification of the proximal epiphysis of the femur.	http://purl.obolibrary.org/obo/HP_0008797		
OBO:HP_0008798	Widened greater sciatic notch	biolink:OntologyClass	hp	UMLS:C4024620	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.	http://purl.obolibrary.org/obo/HP_0008798		Widened sacrosciatic notch|Widening of the sacrosciatic notch
OBO:HP_0008800	Limited hip movement	biolink:OntologyClass	hp	UMLS:C1851542	A decreased ability to move the femur at the hip joint associated with a decreased range of motion of the hip.	http://purl.obolibrary.org/obo/HP_0008800		Limited hip movement
OBO:HP_0008801	Hypoplasia of the lesser trochanter	biolink:OntologyClass	hp	UMLS:C1840062	Underdevelopment of the lesser trochanter.	http://purl.obolibrary.org/obo/HP_0008801		Lesser trochanter hypoplasia
OBO:HP_0008802	Hypoplasia of the femoral head	biolink:OntologyClass	hp	UMLS:C1856920	Underdevelopment of the femoral head.	http://purl.obolibrary.org/obo/HP_0008802		Small head of thigh bone|Hypoplastic femoral head|Small femoral heads
OBO:HP_0008803	obsolete Narrow sacroiliac notch	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0008803		
OBO:HP_0008804	Broad femoral head	biolink:OntologyClass	hp	UMLS:C4024619	Increased width of the femoral head.	http://purl.obolibrary.org/obo/HP_0008804		Wide head of thigh bone
OBO:HP_0008807	Acetabular dysplasia	biolink:OntologyClass	hp	MSH:D006617|UMLS:C1328407	The presence of developmental dysplasia of the acetabular part of hip bone.	http://purl.obolibrary.org/obo/HP_0008807		Dysplastic acetabulae
OBO:HP_0008808	High iliac wings	biolink:OntologyClass	hp	UMLS:C1969680	Increased height of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally).	http://purl.obolibrary.org/obo/HP_0008808		Narrow, high iliac wings
OBO:HP_0008812	Flattened femoral head	biolink:OntologyClass	hp	UMLS:C1860601	An abnormally flattened femoral head.	http://purl.obolibrary.org/obo/HP_0008812		Flat head of thigh bone|Flattened femoral heads
OBO:HP_0008817	Aplastic pubic bones	biolink:OntologyClass	hp	UMLS:C1848660		http://purl.obolibrary.org/obo/HP_0008817		Absent pubic bones
OBO:HP_0008818	Large iliac wings	biolink:OntologyClass	hp	UMLS:C4024618	Increased size of the ilium ala.	http://purl.obolibrary.org/obo/HP_0008818		
OBO:HP_0008819	Narrow femoral neck	biolink:OntologyClass	hp	UMLS:C1863739	An abnormally reduced diameter of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).	http://purl.obolibrary.org/obo/HP_0008819		Narrow neck of thigh bone|Narrow femoral necks
OBO:HP_0008820	Absent ossification of capital femoral epiphysis	biolink:OntologyClass	hp	UMLS:C1968686	Lack of ossification of the proximal epiphysis of the femur.	http://purl.obolibrary.org/obo/HP_0008820		Absent ossification of femoral capital epiphyses
OBO:HP_0008821	Hypoplastic inferior ilia	biolink:OntologyClass	hp	UMLS:C1837078		http://purl.obolibrary.org/obo/HP_0008821		
OBO:HP_0008822	Hypoplastic ischiopubic rami	biolink:OntologyClass	hp	UMLS:C4024617	Underdevelopment of the ischiopubic ramus, which is comprised of the inferior pubic ramus and the inferior ramus of the ischium.	http://purl.obolibrary.org/obo/HP_0008822		
OBO:HP_0008823	Hypoplastic inferior pubic rami	biolink:OntologyClass	hp	UMLS:C1853573		http://purl.obolibrary.org/obo/HP_0008823		
OBO:HP_0008824	Hypoplastic iliac body	biolink:OntologyClass	hp	UMLS:C1849034	Underdevelopment of the body of ilium.	http://purl.obolibrary.org/obo/HP_0008824		Hypoplastic iliac bodies|Small iliac bodies
OBO:HP_0008826	Dislocation of the femoral head	biolink:OntologyClass	hp	UMLS:C1859446	Joint dislocation of the femoral head.	http://purl.obolibrary.org/obo/HP_0008826		Dislocated head of thigh bone|Dislocated femoral heads
OBO:HP_0008828	Delayed proximal femoral epiphyseal ossification	biolink:OntologyClass	hp	UMLS:C1855222	Developmental delay of ossification of the proximal epiphysis of the femur.	http://purl.obolibrary.org/obo/HP_0008828		Delayed ossification of the proximal femoral epiphysis|Delayed ossification proximal femoral epiphyses
OBO:HP_0008829	Delayed femoral head ossification	biolink:OntologyClass	hp	UMLS:C1846446|UMLS:C4280410	Delayed ossification of the femoral head.	http://purl.obolibrary.org/obo/HP_0008829		Delayed maturation of the head of the thigh bone
OBO:HP_0008830	Hypoplastic pubic rami	biolink:OntologyClass	hp	UMLS:C1969176		http://purl.obolibrary.org/obo/HP_0008830		
OBO:HP_0008833	Irregular acetabular roof	biolink:OntologyClass	hp	UMLS:C1834975		http://purl.obolibrary.org/obo/HP_0008833		
OBO:HP_0008835	Multicentric femoral head ossification	biolink:OntologyClass	hp	UMLS:C1846447	There is normally one ossification center in the head of the femur. This term applies if there are multiple such centers.	http://purl.obolibrary.org/obo/HP_0008835		
OBO:HP_0008838	Stippled calcification proximal humeral epiphyses	biolink:OntologyClass	hp	UMLS:C1857243		http://purl.obolibrary.org/obo/HP_0008838		Speckled calcifications in end part of innermost long bone of upper arm
OBO:HP_0008839	Hypoplastic pelvis	biolink:OntologyClass	hp	UMLS:C3536734	Underdevelopment of the bony pelvis.	http://purl.obolibrary.org/obo/HP_0008839	hposlim_core	Hypoplastic pelvic bones|Small pelvis
OBO:HP_0008843	Hip osteoarthritis	biolink:OntologyClass	hp	MSH:D015207|SNOMEDCT_US:239872002|UMLS:C0029410		http://purl.obolibrary.org/obo/HP_0008843		Osteoarthritis of hip
OBO:HP_0008845	Mesomelic short stature	biolink:OntologyClass	hp	UMLS:C1855274	A type of disproportionate short stature characterized by disproportionate shortening of the medial parts of the extremities (forearm or lower leg).	http://purl.obolibrary.org/obo/HP_0008845		Mesomelic dwarfism|Dwarfism, short limb mesomelic|Short stature, disproportionate mesomelic|Short stature, mesomelic
OBO:HP_0008846	Severe intrauterine growth retardation	biolink:OntologyClass	hp	UMLS:C1855843	Intrauterine growth retardation that is 4 or more standard deviations below average, corrected for sex and gestational age.	http://purl.obolibrary.org/obo/HP_0008846		Severe prenatal growth deficiency|Intrauterine growth retardation, severe
OBO:HP_0008848	Moderately short stature	biolink:OntologyClass	hp	UMLS:C1861519	A moderate degree of short stature, more than -3 SD but not more than -4 SD from mean corrected for age and sex.	http://purl.obolibrary.org/obo/HP_0008848		Moderate short stature|Short stature, moderate
OBO:HP_0008850	Severe postnatal growth retardation	biolink:OntologyClass	hp	UMLS:C1857641	Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms.	http://purl.obolibrary.org/obo/HP_0008850		Marked growth retardation|Severe growth delay in children|Severe postnatal growth failure|Severe postnatal growth deficiency
OBO:HP_0008855	Moderate postnatal growth retardation	biolink:OntologyClass	hp	UMLS:C4024616	A moderate degree of slow or limited growth after birth, being between three and four standard deviations below age- and sex-related norms.	http://purl.obolibrary.org/obo/HP_0008855		Moderate growth delay in children
OBO:HP_0008857	Neonatal short-trunk short stature	biolink:OntologyClass	hp	UMLS:C3149908	A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with congenital onset recognizable at birth.	http://purl.obolibrary.org/obo/HP_0008857		Short-trunk dwarfism identifiable at birth
OBO:HP_0008866	Failure to thrive secondary to recurrent infections	biolink:OntologyClass	hp	UMLS:C1832323	Insufficient weight gain or inappropriate weight loss for a child, that is attributed to an endogenous recurrent infections.	http://purl.obolibrary.org/obo/HP_0008866		Faltering weight secondary to recurrent infections|Weight faltering secondary to recurrent infections
OBO:HP_0008872	Feeding difficulties in infancy	biolink:OntologyClass	hp	UMLS:C2674608	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.	http://purl.obolibrary.org/obo/HP_0008872		
OBO:HP_0008873	Disproportionate short-limb short stature	biolink:OntologyClass	hp	UMLS:C1849937	A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.	http://purl.obolibrary.org/obo/HP_0008873	hposlim_core	Short limb dwarfism, disproportionate|Short-limbed dwarfism|Short limb dwarfism|Brachymelic dwarfism|Disproportionate short limb dwarfism|Dwarfism, short-limbed|Micromelic dwarfism|Short stature, disproportionate short limb|Short stature, disproportionate short-limb|Short-limb dwarfism
OBO:HP_0008883	Mild intrauterine growth retardation	biolink:OntologyClass	hp	UMLS:C1840006	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.	http://purl.obolibrary.org/obo/HP_0008883		Mild prenatal growth deficiency
OBO:HP_0008887	Adipose tissue loss	biolink:OntologyClass	hp	UMLS:C4024615	A loss of adipose tissue.	http://purl.obolibrary.org/obo/HP_0008887		Loss of fat tissue
OBO:HP_0008890	Severe short-limb dwarfism	biolink:OntologyClass	hp	UMLS:C1860105		http://purl.obolibrary.org/obo/HP_0008890		
OBO:HP_0008897	Postnatal growth retardation	biolink:OntologyClass	hp	UMLS:C1859778	Slow or limited growth after birth.	http://purl.obolibrary.org/obo/HP_0008897		Growth delay as children|Growth retardation as children|Postnatal growth deceleration|Postnatal growth deficiency|Postnatal growth failure
OBO:HP_0008905	Rhizomelia	biolink:OntologyClass	hp	UMLS:C1866730	Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).	http://purl.obolibrary.org/obo/HP_0008905	hposlim_core	Disproportionately short upper portion of limb|Rhizomelic dwarfism|Rhizomelic limb shortening|Rhizomelic short limbs|Rhizomelic short stature|Rhizomelic shortening|Short stature, rhizomelic|Symmetrical rhizomelic limb shortening
OBO:HP_0008909	Lethal short-limbed short stature	biolink:OntologyClass	hp	UMLS:C2674171		http://purl.obolibrary.org/obo/HP_0008909		Lethal micromelic dwarfism|Lethal short-limbed dwarfism
OBO:HP_0008915	Childhood-onset truncal obesity	biolink:OntologyClass	hp	UMLS:C1859846	Truncal obesity with onset during childhood, defined as between 2 and 10 years of age.	http://purl.obolibrary.org/obo/HP_0008915		Truncal obesity apparent in childhood
OBO:HP_0008921	Neonatal short-limb short stature	biolink:OntologyClass	hp	UMLS:C1850171	A type of short-limbed dwarfism that is manifest beginning in the neonatal period.	http://purl.obolibrary.org/obo/HP_0008921		Short limb dwarfism recognizable at birth|Short-limb dwarfism identifiable at birth|Short-limbed dwarfism identifiable at birth|Dwarfism, neonatal short-limbed|Neonatal short-limbed dwarfism|Short-limb dwarfism identifiable neonatally
OBO:HP_0008922	Childhood-onset short-trunk short stature	biolink:OntologyClass	hp	UMLS:C3148833	A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in childhood.	http://purl.obolibrary.org/obo/HP_0008922		Childhood-onset short-trunk short stature|Disproportionate short-trunk short stature, identifiable in childhood|Short-trunk dwarfism identifiable during childhood
OBO:HP_0008929	Asymmetric short stature	biolink:OntologyClass	hp	UMLS:C4024614		http://purl.obolibrary.org/obo/HP_0008929		
OBO:HP_0008935	Generalized neonatal hypotonia	biolink:OntologyClass	hp	UMLS:C1845123	Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period and affecting the entire musculature.	http://purl.obolibrary.org/obo/HP_0008935		Generalized low muscle tone in neonate|Generalised neonatal hypotonia|Hypotonia, neonatal, generalized
OBO:HP_0008936	Muscular hypotonia of the trunk	biolink:OntologyClass	hp	UMLS:C1853743	Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.	http://purl.obolibrary.org/obo/HP_0008936		Low muscle tone in trunk|Axial hypotonia|Truncal hypotonia
OBO:HP_0008940	Generalized lymphadenopathy	biolink:OntologyClass	hp	SNOMEDCT_US:274741002|UMLS:C0476486	A generalized form of lymphadenopathy.	http://purl.obolibrary.org/obo/HP_0008940		Generalized swelling of lymph nodes|Swollen lymph nodes affecting all regions of the body|Generalised lymphadenopathy
OBO:HP_0008942	Acute rhabdomyolysis	biolink:OntologyClass	hp	UMLS:C3807306	An acute form of rhabdomyolysis.	http://purl.obolibrary.org/obo/HP_0008942		Rhabdomyolysis, acute
OBO:HP_0008944	Distal lower limb amyotrophy	biolink:OntologyClass	hp	UMLS:C1836451|UMLS:C1866863|UMLS:C3806644	Muscular atrophy of distal leg muscles.	http://purl.obolibrary.org/obo/HP_0008944		Lower leg amyotrophy|Lower limb degeneration|Muscle atrophy, lower limb, distal|Lower limb atrophy|Lower limb muscle hypotrophy
OBO:HP_0008945	Loss of ability to walk in early childhood	biolink:OntologyClass	hp	UMLS:C1835993		http://purl.obolibrary.org/obo/HP_0008945		
OBO:HP_0008946	Pelvic girdle amyotrophy	biolink:OntologyClass	hp	UMLS:C4021528	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.	http://purl.obolibrary.org/obo/HP_0008946		Hip girdle amyotrophy
OBO:HP_0008947	Infantile muscular hypotonia	biolink:OntologyClass	hp	UMLS:C1860834	Muscular hypotonia (abnormally low muscle tone) manifesting in infancy.	http://purl.obolibrary.org/obo/HP_0008947		Decreased muscle tone in infant|Hypotonia early|Hypotonia in infancy|Hypotonia, early|Infantile hypotonia
OBO:HP_0008948	Proximal upper limb amyotrophy	biolink:OntologyClass	hp	UMLS:C1866013	Muscular atrophy affecting proximally located muscles of the arms.	http://purl.obolibrary.org/obo/HP_0008948		Proximal muscle atrophy in upper limbs|Proximal upper limb muscle atrophy
OBO:HP_0008952	Shoulder muscle hypoplasia	biolink:OntologyClass	hp	UMLS:C1969001	Underdevelopment of muscles of the shoulder.	http://purl.obolibrary.org/obo/HP_0008952		Underdeveloped shoulder muscle
OBO:HP_0008953	Pectoralis major hypoplasia	biolink:OntologyClass	hp	UMLS:C1840086	Underdevelopment of the pectoralis major.	http://purl.obolibrary.org/obo/HP_0008953		Pectoralis major muscle hypoplasia
OBO:HP_0008954	Intrinsic hand muscle atrophy	biolink:OntologyClass	hp	UMLS:C1864716	Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles.	http://purl.obolibrary.org/obo/HP_0008954		
OBO:HP_0008955	Progressive distal muscular atrophy	biolink:OntologyClass	hp	UMLS:C4024613	Progressive muscular atrophy affecting muscles in the distal portions of the extremities.	http://purl.obolibrary.org/obo/HP_0008955		
OBO:HP_0008956	Proximal lower limb amyotrophy	biolink:OntologyClass	hp	UMLS:C1836767	Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh.	http://purl.obolibrary.org/obo/HP_0008956		Wasting of thigh muscle|Amyotrophy involving the thigh|Amyotrophy of the thigh musculature|Proximal lower limb muscle atrophy|Thigh muscle atrophy
OBO:HP_0008959	Distal upper limb muscle weakness	biolink:OntologyClass	hp	UMLS:C3150620	Reduced strength of the distal musculature of the arms.	http://purl.obolibrary.org/obo/HP_0008959		
OBO:HP_0008962	Calf muscle hypoplasia	biolink:OntologyClass	hp	UMLS:C3805450	Underdevelopment of the muscuklature of the calf.	http://purl.obolibrary.org/obo/HP_0008962		Underdeveloped calf muscles|Hypoplastic calf muscles
OBO:HP_0008963	Tibialis muscle weakness	biolink:OntologyClass	hp	UMLS:C4024612	Muscle weakness affecting the tibialis anterior muscle.	http://purl.obolibrary.org/obo/HP_0008963		
OBO:HP_0008964	Nonprogressive muscular atrophy	biolink:OntologyClass	hp	UMLS:C4024611	Muscular atrophy that does not display a progression in severity with time.	http://purl.obolibrary.org/obo/HP_0008964		
OBO:HP_0008967	Exercise-induced muscle stiffness	biolink:OntologyClass	hp	UMLS:C1855579	A type of muscle stiffness that occurs following physical exertion.	http://purl.obolibrary.org/obo/HP_0008967		Exercise-induced muscle stiffness|Muscle stiffness with exercise|Muscle stiffness, exercise-induced
OBO:HP_0008968	Muscle hypertrophy of the lower extremities	biolink:OntologyClass	hp	UMLS:C1850663	Muscle hypertrophy primarily affecting the legs.	http://purl.obolibrary.org/obo/HP_0008968		
OBO:HP_0008969	Leg muscle stiffness	biolink:OntologyClass	hp	UMLS:C4024610		http://purl.obolibrary.org/obo/HP_0008969		
OBO:HP_0008970	Scapulohumeral muscular dystrophy	biolink:OntologyClass	hp	MSH:C562932|SNOMEDCT_US:240074006|UMLS:C0410192		http://purl.obolibrary.org/obo/HP_0008970		
OBO:HP_0008972	Decreased activity of mitochondrial respiratory chain	biolink:OntologyClass	hp	UMLS:C1835995|UMLS:C3276441|UMLS:C4024609	Decreased activity of the mitochondrial respiratory chain.	http://purl.obolibrary.org/obo/HP_0008972		Decreased activities of mitochondrial-encoded respiratory chain complexes|Decreased activity of mitochondrial respiratory complexes
OBO:HP_0008978	Necrotizing myopathy	biolink:OntologyClass	hp	UMLS:C4024608		http://purl.obolibrary.org/obo/HP_0008978		
OBO:HP_0008981	Calf muscle hypertrophy	biolink:OntologyClass	hp	UMLS:C1843057	Muscle hypertrophy affecting the calf muscles.	http://purl.obolibrary.org/obo/HP_0008981		Increased size of calf muscles|Calf hypertrophy|Muscular hypertrophy of the calf muscles
OBO:HP_0008984	Neck muscle hypoplasia	biolink:OntologyClass	hp	UMLS:C1969000|UMLS:C4280408|UMLS:C4280409	Underdevelopment of muscles of the neck.	http://purl.obolibrary.org/obo/HP_0008984		Decreased size of neck muscle|Small neck muscle|Underdevelopment of neck muscle|Deficiency of neck muscle|Hypotrophic neck muscle
OBO:HP_0008985	Increased intramuscular fat	biolink:OntologyClass	hp	UMLS:C1835389	An abnormal increase in the amount of intramuscular fat tissue.	http://purl.obolibrary.org/obo/HP_0008985		Increased IM fat|Increased intramuscular fat
OBO:HP_0008986	Agenesis of the diaphragm	biolink:OntologyClass	hp	SNOMEDCT_US:702613006|SNOMEDCT_US:72424001|UMLS:C0221360	Congenital lack, i.e., aplasia of the diaphragm.	http://purl.obolibrary.org/obo/HP_0008986		Absent diaphragm|Agenesis of diaphragm
OBO:HP_0008988	Pelvic girdle muscle atrophy	biolink:OntologyClass	hp	UMLS:C0240679	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).	http://purl.obolibrary.org/obo/HP_0008988		Pelvic girdle muscle wasting
OBO:HP_0008991	Exercise-induced leg cramps	biolink:OntologyClass	hp	UMLS:C4024607	Sudden and involuntary contractions of one or more muscles of the leg brought on by physical exertion.	http://purl.obolibrary.org/obo/HP_0008991		
OBO:HP_0008993	Increased intraabdominal fat	biolink:OntologyClass	hp	UMLS:C1835390	An abnormal increase in the amount of intraabdominal fat tissue.	http://purl.obolibrary.org/obo/HP_0008993		
OBO:HP_0008994	Proximal muscle weakness in lower limbs	biolink:OntologyClass	hp	UMLS:C1866010	A lack of strength of the proximal muscles of the legs.	http://purl.obolibrary.org/obo/HP_0008994		Muscle weakness, proximal, lower limbs
OBO:HP_0008997	Proximal muscle weakness in upper limbs	biolink:OntologyClass	hp	UMLS:C1866012	A lack of strength of the proximal muscles of the arms.	http://purl.obolibrary.org/obo/HP_0008997		
OBO:HP_0008998	Pectoralis hypoplasia	biolink:OntologyClass	hp	UMLS:C1846477	Underdevelopment of the pectoral muscle.	http://purl.obolibrary.org/obo/HP_0008998		Small pec muscle|Underdeveloped pec muscle|Hypoplastic pectoral muscle
OBO:HP_0009002	Loss of truncal subcutaneous adipose tissue	biolink:OntologyClass	hp	UMLS:C1835384	Loss (reduction of previously present) of subcutaneous adipose tissue in the region of the trunk.	http://purl.obolibrary.org/obo/HP_0009002		Loss of fat tissue in trunk|Loss of subcutaneous truncal adipose tissue|Loss of truncal adipose tissue
OBO:HP_0009003	Increased subcutaneous truncal adipose tissue	biolink:OntologyClass	hp	UMLS:C1837781	The presence of an abnormally increased amount of subcutaneous adipose tissue in the trunk of the body.	http://purl.obolibrary.org/obo/HP_0009003		Increased fat below the skin in trunk
OBO:HP_0009004	Hypoplasia of the musculature	biolink:OntologyClass	hp	SNOMEDCT_US:205530002|UMLS:C0240414	Underdevelopment of the musculature.	http://purl.obolibrary.org/obo/HP_0009004		Poorly developed skeletal musculature|Underdeveloped muscle|Muscle hypoplasia|Underdeveloped muscles
OBO:HP_0009005	Weakness of the intrinsic hand muscles	biolink:OntologyClass	hp	UMLS:C1834536		http://purl.obolibrary.org/obo/HP_0009005		Intrinsic hand muscle weakness
OBO:HP_0009007	Biceps hypoplasia	biolink:OntologyClass	hp	UMLS:C1862499	Underdevelopment of the biceps muscle.	http://purl.obolibrary.org/obo/HP_0009007		Underdeveloped biceps|Hypoplastic biceps
OBO:HP_0009011	Hypoplasia of serratus anterior muscle	biolink:OntologyClass	hp	UMLS:C1868167	Underdevelopment of the serratus anterior muscle, which is involved in abduction, upward Rotation, and elevation of the scapula.	http://purl.obolibrary.org/obo/HP_0009011		
OBO:HP_0009013	Congenital absence of gluteal muscles	biolink:OntologyClass	hp	MSH:C535561|UMLS:C2930932		http://purl.obolibrary.org/obo/HP_0009013		
OBO:HP_0009016	Upper limb muscle hypoplasia	biolink:OntologyClass	hp	UMLS:C1846478	Underdevelopment of muscles of the arm.	http://purl.obolibrary.org/obo/HP_0009016		Underdevelopment of upper limb muscles
OBO:HP_0009017	Loss of gluteal subcutaneous adipose tissue	biolink:OntologyClass	hp	UMLS:C4024606	Loss (reduction of previously present) of subcutaneous adipose tissue in the gluteal region.	http://purl.obolibrary.org/obo/HP_0009017		Loss of fat tissue below the skin in gluts
OBO:HP_0009019	Progressive loss of facial adipose tissue	biolink:OntologyClass	hp	UMLS:C1837510		http://purl.obolibrary.org/obo/HP_0009019		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
OBO:HP_0009020	Exercise-induced muscle fatigue	biolink:OntologyClass	hp	UMLS:C1855580	An abnormally increased tendency towards muscle fatigue induced by physical exercise.	http://purl.obolibrary.org/obo/HP_0009020		
OBO:HP_0009023	Abdominal wall muscle weakness	biolink:OntologyClass	hp	UMLS:C4021527	Decreased strength of the abdominal musculature.	http://purl.obolibrary.org/obo/HP_0009023		Lax abdominal musculature
OBO:HP_0009025	Increased connective tissue	biolink:OntologyClass	hp	UMLS:C1866021	The presence of an abnormally increased amount of connective tissue.	http://purl.obolibrary.org/obo/HP_0009025		
OBO:HP_0009026	Hypoplasia of latissimus dorsi muscle	biolink:OntologyClass	hp	UMLS:C3805860	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.	http://purl.obolibrary.org/obo/HP_0009026		
OBO:HP_0009027	Foot dorsiflexor weakness	biolink:OntologyClass	hp	SNOMEDCT_US:6077001|UMLS:C0085684|UMLS:C1866141	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.	http://purl.obolibrary.org/obo/HP_0009027		Foot drop|Foot extensor weakness|Footdrop
OBO:HP_0009028	Generalized weakness of limb muscles	biolink:OntologyClass	hp	UMLS:C4024605	Generalized weakness of the muscles of the arms and legs.	http://purl.obolibrary.org/obo/HP_0009028		Generalised weakness of limb muscles
OBO:HP_0009031	Amyotrophy of ankle musculature	biolink:OntologyClass	hp	UMLS:C4024604	Atrophy of the muscles of the ankle.	http://purl.obolibrary.org/obo/HP_0009031		
OBO:HP_0009037	Segmental spinal muscular atrophy	biolink:OntologyClass	hp	MSH:C566670|UMLS:C1866774		http://purl.obolibrary.org/obo/HP_0009037		
OBO:HP_0009042	Marked muscular hypertrophy	biolink:OntologyClass	hp	UMLS:C1846013	Severe hypertrophy (increase in size) of muscle cells.	http://purl.obolibrary.org/obo/HP_0009042		
OBO:HP_0009044	obsolete Hypoplasia of deltoid muscle	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0009044		
OBO:HP_0009045	Exercise-induced rhabdomyolysis	biolink:OntologyClass	hp	UMLS:C4021526	Rhabdomyolysis induced by exercise.	http://purl.obolibrary.org/obo/HP_0009045		Rhabdomyolysis with exercise
OBO:HP_0009046	Difficulty running	biolink:OntologyClass	hp	SNOMEDCT_US:282479002|UMLS:C0560346	Reduced ability to run.	http://purl.obolibrary.org/obo/HP_0009046		Difficulty running
OBO:HP_0009049	Peroneal muscle atrophy	biolink:OntologyClass	hp	UMLS:C1389118	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).	http://purl.obolibrary.org/obo/HP_0009049		Peroneal atrophy
OBO:HP_0009050	Quadriceps muscle atrophy	biolink:OntologyClass	hp	UMLS:C4024603	Muscular atrophy involving the quadriceps muscle.	http://purl.obolibrary.org/obo/HP_0009050		Wasting of quad muscles
OBO:HP_0009051	Increased muscle glycogen content	biolink:OntologyClass	hp	UMLS:C1968729	An increased amount of glycogen in muscle tissue.	http://purl.obolibrary.org/obo/HP_0009051		
OBO:HP_0009053	Distal lower limb muscle weakness	biolink:OntologyClass	hp	UMLS:C1836450	Reduced strength of the distal musculature of the legs.	http://purl.obolibrary.org/obo/HP_0009053		Distal muscle weakness in lower limbs|Muscle weakness, lower limb, distal
OBO:HP_0009054	Scapuloperoneal myopathy	biolink:OntologyClass	hp	MSH:C536624|UMLS:C2931268		http://purl.obolibrary.org/obo/HP_0009054		
OBO:HP_0009055	Generalized limb muscle atrophy	biolink:OntologyClass	hp	UMLS:C1838114	Generalized (unlocalized) atrophy affecting muscles of the limbs in both proximal and distal locations.	http://purl.obolibrary.org/obo/HP_0009055		Generalized muscle wasting|Generalised limb muscle atrophy|Generalized muscle atrophy, proximal and distal
OBO:HP_0009056	Loss of subcutaneous adipose tissue from upper limbs	biolink:OntologyClass	hp	UMLS:C4024602		http://purl.obolibrary.org/obo/HP_0009056		Loss of fat tissue below the skin from upper limbs
OBO:HP_0009058	Increased muscle lipid content	biolink:OntologyClass	hp	UMLS:C1837262	An abnormal accumulation of lipids in skeletal muscle.	http://purl.obolibrary.org/obo/HP_0009058		Fat accumulation in muscle fibers|Fat deposits in muscle fibers|Increased muscle lipid content|Lipid accumulation in skeletal muscle|Skeletal muscle lipid accumulation|Muscle lipidosis
OBO:HP_0009059	Congenital generalized lipodystrophy	biolink:OntologyClass	hp	MSH:D052497|SNOMEDCT_US:284449005|SNOMEDCT_US:86907008|UMLS:C0221032		http://purl.obolibrary.org/obo/HP_0009059		Congenital generalised lipodystrophy
OBO:HP_0009060	Scapular muscle atrophy	biolink:OntologyClass	hp	UMLS:C3805969	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.	http://purl.obolibrary.org/obo/HP_0009060		
OBO:HP_0009062	Infantile axial hypotonia	biolink:OntologyClass	hp	UMLS:C3806604	Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk and with onset in infancy.	http://purl.obolibrary.org/obo/HP_0009062		Hypotonia, axial, in infancy
OBO:HP_0009063	Progressive distal muscle weakness	biolink:OntologyClass	hp	UMLS:C1836609	Progressively reduced strength of the distal musculature.	http://purl.obolibrary.org/obo/HP_0009063		Muscle weakness, distal, progressive|Muscle weakness, progressive, distal
OBO:HP_0009064	Generalized lipodystrophy	biolink:OntologyClass	hp	MSH:D052497|SNOMEDCT_US:284449005|SNOMEDCT_US:86907008|UMLS:C0221032	Generalized degenerative changes of the fat tissue.	http://purl.obolibrary.org/obo/HP_0009064		Generalised lipodystrophy|Lipodystrophy, generalized
OBO:HP_0009067	Progressive spinal muscular atrophy	biolink:OntologyClass	hp	UMLS:C4082951	Progressive spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem.	http://purl.obolibrary.org/obo/HP_0009067		Progressive spinal muscle degeneration|Progressive spinal muscle wasting
OBO:HP_0009069	Lethal infantile mitochondrial myopathy	biolink:OntologyClass	hp	MSH:C564017|UMLS:C1838876		http://purl.obolibrary.org/obo/HP_0009069		
OBO:HP_0009071	Inflammatory myopathy	biolink:OntologyClass	hp	MSH:D009220|SNOMEDCT_US:128496001|SNOMEDCT_US:26889001|UMLS:C0027121	Chronic muscle inflammation accompanied by muscle weakness.	http://purl.obolibrary.org/obo/HP_0009071		
OBO:HP_0009072	Decreased Achilles reflex	biolink:OntologyClass	hp	UMLS:C1837323	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.	http://purl.obolibrary.org/obo/HP_0009072		Hyporeflexia at ankle joints
OBO:HP_0009073	Progressive proximal muscle weakness	biolink:OntologyClass	hp	UMLS:C1836156	Lack of strength of the proximal muscles that becomes progressively more severe.	http://purl.obolibrary.org/obo/HP_0009073		Muscle weakness, progressive, proximal
OBO:HP_0009077	Weakness of long finger extensor muscles	biolink:OntologyClass	hp	UMLS:C4024601		http://purl.obolibrary.org/obo/HP_0009077		
OBO:HP_0009084	Midline notch of upper alveolar ridge	biolink:OntologyClass	hp	UMLS:C1851853		http://purl.obolibrary.org/obo/HP_0009084		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
OBO:HP_0009085	Alveolar ridge overgrowth	biolink:OntologyClass	hp	UMLS:C1856164|UMLS:C1865598	Increased width of the alveolar ridges.	http://purl.obolibrary.org/obo/HP_0009085	hposlim_core	Increased size of gum ridge|Overgrowth of gum ridge|Alveolar ridge excess|Enlarged alveolar ridge|Hyperplasia of alveolar process of jaw|Hyperplasia of alveolar ridge|Increased size of alveolar ridge|Overgrowth of alveolar ridge|Thick alveolar ridges|Thickened alveolar ridges|Hypertrophied alveolar ridge
OBO:HP_0009087	Posteriorly placed tongue	biolink:OntologyClass	hp	UMLS:C4024600		http://purl.obolibrary.org/obo/HP_0009087		Posteriorly placed tongue
OBO:HP_0009088	Speech articulation difficulties	biolink:OntologyClass	hp	UMLS:C1865313	Impairment in the physical production of speech sounds.	http://purl.obolibrary.org/obo/HP_0009088		
OBO:HP_0009090	obsolete Facial diplegic appearance	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0009090		
OBO:HP_0009092	Progressive alveolar ridge hypertropy	biolink:OntologyClass	hp	UMLS:C1854934|UMLS:C4280407		http://purl.obolibrary.org/obo/HP_0009092		Increasing size of gum ridge|Increasing overgrowth of gum ridge|Progressive hypertrophy of alveolar process of jaw
OBO:HP_0009094	Cleft lower alveolar ridge	biolink:OntologyClass	hp	UMLS:C1849350|UMLS:C4280404|UMLS:C4280405|UMLS:C4280406		http://purl.obolibrary.org/obo/HP_0009094		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
OBO:HP_0009098	Chronic oral candidiasis	biolink:OntologyClass	hp	UMLS:C4024599	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.	http://purl.obolibrary.org/obo/HP_0009098		Chronic oral thrush
OBO:HP_0009099	Median cleft palate	biolink:OntologyClass	hp	UMLS:C1850968	Cleft palate of the midline of the palate.	http://purl.obolibrary.org/obo/HP_0009099		Central cleft palate|Midline cleft palate
OBO:HP_0009100	Thick anterior alveolar ridges	biolink:OntologyClass	hp	UMLS:C1859377		http://purl.obolibrary.org/obo/HP_0009100		Thick anterior alveolar process of jaw
OBO:HP_0009101	Submucous cleft lip	biolink:OntologyClass	hp	UMLS:C1839277	A cleft of the lip with overlying mucous membrane.	http://purl.obolibrary.org/obo/HP_0009101		Submucous labial cleft
OBO:HP_0009102	Anterior open-bite malocclusion	biolink:OntologyClass	hp	UMLS:C4024598	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.	http://purl.obolibrary.org/obo/HP_0009102		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
OBO:HP_0009103	Aplasia/Hypoplasia involving the pelvis	biolink:OntologyClass	hp	UMLS:C4024597		http://purl.obolibrary.org/obo/HP_0009103		Absent/small pelvis|Absent/underdeveloped pelvis
OBO:HP_0009104	Aplasia/Hypoplasia of the pubic bone	biolink:OntologyClass	hp	UMLS:C1849305	Absence or underdevelopment of the pubic bone.	http://purl.obolibrary.org/obo/HP_0009104		Absent/small pubic bones|Absent/underdeveloped pubic bones|Hypoplastic/aplastic pubic bones
OBO:HP_0009105	Abnormal ossification of the pubic bone	biolink:OntologyClass	hp	UMLS:C4024596|UMLS:C4280403	Abnormal ossification (bone tissue formation) affecting the pubic bone, also known as the pubis.	http://purl.obolibrary.org/obo/HP_0009105		Abnormal maturation of the pubic bone
OBO:HP_0009106	Abnormal pelvis bone ossification	biolink:OntologyClass	hp	UMLS:C4021525|UMLS:C4280402	An abnormality of the formation and mineralization of any bone of the bony pelvis.	http://purl.obolibrary.org/obo/HP_0009106		Abnormal maturation of the pelvis bone|Abnormal ossification involving the bones of the pelvis
OBO:HP_0009107	Abnormal ossification involving the femoral head and neck	biolink:OntologyClass	hp	UMLS:C4024595		http://purl.obolibrary.org/obo/HP_0009107		Abnormal maturation of thigh bone head and neck
OBO:HP_0009108	Aplasia/Hypoplasia involving the femoral head and neck	biolink:OntologyClass	hp	UMLS:C4024594		http://purl.obolibrary.org/obo/HP_0009108		Absent/small head and neck of thighbone|Absent/underdeveloped head and neck of thighbone
OBO:HP_0009109	Denervation of the diaphragm	biolink:OntologyClass	hp	UMLS:C1858529	Interruption of the innervation of the diaphragm.	http://purl.obolibrary.org/obo/HP_0009109		
OBO:HP_0009110	Diaphragmatic eventration	biolink:OntologyClass	hp	MSH:D003965|SNOMEDCT_US:34168003|UMLS:C0011981	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.	http://purl.obolibrary.org/obo/HP_0009110		Eventration of the diaphragm
OBO:HP_0009112	Aplasia of the left hemidiaphragm	biolink:OntologyClass	hp	UMLS:C4024593	Congenital absence of the left half of the diaphragm.	http://purl.obolibrary.org/obo/HP_0009112		Absent left hemidiaphragm|Left diaphragmatic hernia
OBO:HP_0009113	Diaphragmatic weakness	biolink:OntologyClass	hp	SNOMEDCT_US:95438009|UMLS:C0521532|UMLS:C4020786	A decrease in the strength of the diaphragm.	http://purl.obolibrary.org/obo/HP_0009113		Weak diaphragm|Diaphragmatic paraparesis|Diminished diaphragmatic motion
OBO:HP_0009115	Aplasia/hypoplasia involving the skeleton	biolink:OntologyClass	hp	UMLS:C4024592	Absence (due to failure to form) or underdevelopment of one or more components of the skeleton.	http://purl.obolibrary.org/obo/HP_0009115		Absent/small skeleton|Absent/underdeveloped skeleton
OBO:HP_0009116	Aplasia/Hypoplasia involving bones of the skull	biolink:OntologyClass	hp	UMLS:C4024591		http://purl.obolibrary.org/obo/HP_0009116		
OBO:HP_0009117	Aplasia/Hypoplasia of the maxilla	biolink:OntologyClass	hp	UMLS:C4024590	Absence or underdevelopment of the maxilla.	http://purl.obolibrary.org/obo/HP_0009117		Underdevelopment of upper jaw bones|Underdevelopment of maxilla
OBO:HP_0009118	Aplasia/Hypoplasia of the mandible	biolink:OntologyClass	hp	MSH:D063173|UMLS:C3494426|UMLS:C4021371|UMLS:C4024589|UMLS:C4280261|UMLS:C4280401	Absence or underdevelopment of the mandible.	http://purl.obolibrary.org/obo/HP_0009118		
OBO:HP_0009119	Aplasia/Hypoplasia of the frontal sinuses	biolink:OntologyClass	hp	UMLS:C4024588	Absence or underdevelopment of frontal sinus.	http://purl.obolibrary.org/obo/HP_0009119		Abnormally small frontal sinus
OBO:HP_0009120	Aplasia/Hypoplasia involving the sinuses	biolink:OntologyClass	hp	UMLS:C4024587	Absence or underdevelopment of a cranial sinus or sinuses.	http://purl.obolibrary.org/obo/HP_0009120		
OBO:HP_0009121	Abnormal axial skeleton morphology	biolink:OntologyClass	hp	UMLS:C4020785|UMLS:C4024586	An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum.	http://purl.obolibrary.org/obo/HP_0009121		Abnormality of the axial skeleton
OBO:HP_0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	biolink:OntologyClass	hp	UMLS:C4024585	Absence (due to failure to form) or underdevelopment of bones of the axial skeleton.	http://purl.obolibrary.org/obo/HP_0009122		
OBO:HP_0009123	Mixed hypo- and hyperpigmentation of the skin	biolink:OntologyClass	hp	UMLS:C4024584		http://purl.obolibrary.org/obo/HP_0009123		
OBO:HP_0009124	Abnormal adipose tissue morphology	biolink:OntologyClass	hp	UMLS:C4021524	An abnormality of adipose tissue, which is loose connective tissue composed of adipocytes.	http://purl.obolibrary.org/obo/HP_0009124		Abnormality of adipose tissue|Abnormality of fat tissue|Abnormality of fatty tissue
OBO:HP_0009125	Lipodystrophy	biolink:OntologyClass	hp	MSH:D008060|SNOMEDCT_US:71325002|UMLS:C0023787	Degenerative changes of the fat tissue.	http://purl.obolibrary.org/obo/HP_0009125		Inability to make and keep healthy fat tissue
OBO:HP_0009126	Increased adipose tissue	biolink:OntologyClass	hp	UMLS:C4024583	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).	http://purl.obolibrary.org/obo/HP_0009126		Increased adipose tissue|Increased fat tissue
OBO:HP_0009127	Abnormality of the musculature of the limbs	biolink:OntologyClass	hp	UMLS:C4024582		http://purl.obolibrary.org/obo/HP_0009127		Abnormal limb muscles|Muscle issues in the arms and/or legs
OBO:HP_0009128	Aplasia/Hypoplasia involving the musculature of the extremities	biolink:OntologyClass	hp	UMLS:C4024581		http://purl.obolibrary.org/obo/HP_0009128		Absent/small muscles of extremities|Absent/underdeveloped muscles of extremities
OBO:HP_0009129	Upper limb amyotrophy	biolink:OntologyClass	hp	UMLS:C4021523	Muscular atrophy involving the muscles of the upper limbs.	http://purl.obolibrary.org/obo/HP_0009129		Amyotrophy involving the upper limbs
OBO:HP_0009130	Hand muscle atrophy	biolink:OntologyClass	hp	UMLS:C0239830	Muscular atrophy involving the muscles of the hand.	http://purl.obolibrary.org/obo/HP_0009130		Hand muscle degeneration|Amyotrophy involving the musculature of the hand|Amyotrophy of hand muscles|Hand muscle wasting|Hand muscle wasting, bilateral
OBO:HP_0009131	Abnormality of the musculature of the thorax	biolink:OntologyClass	hp	UMLS:C4024580	A disease or lesion affecting the muscles of the thorax.	http://purl.obolibrary.org/obo/HP_0009131		
OBO:HP_0009132	Abnormal tarsal bone mineral density	biolink:OntologyClass	hp	UMLS:C4021522	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.	http://purl.obolibrary.org/obo/HP_0009132		Abnormality of bone mineral density involving tarsal bones
OBO:HP_0009134	Osteolysis involving bones of the feet	biolink:OntologyClass	hp	UMLS:C4024579		http://purl.obolibrary.org/obo/HP_0009134		
OBO:HP_0009136	Duplication involving bones of the feet	biolink:OntologyClass	hp	UMLS:C4024578		http://purl.obolibrary.org/obo/HP_0009136		Duplication involving bones of the feet
OBO:HP_0009138	Synostosis involving bones of the lower limbs	biolink:OntologyClass	hp	UMLS:C4024577	An abnormal union between bones or parts of bones lower limbs.	http://purl.obolibrary.org/obo/HP_0009138		Fusion involving the bones of the lower limbs
OBO:HP_0009139	Osteolysis involving bones of the lower limbs	biolink:OntologyClass	hp	UMLS:C4024576		http://purl.obolibrary.org/obo/HP_0009139		
OBO:HP_0009140	Synostosis involving bones of the feet	biolink:OntologyClass	hp	UMLS:C4024575		http://purl.obolibrary.org/obo/HP_0009140		Fusion involving the bones of the feet
OBO:HP_0009141	Depletion of mitochondrial DNA in muscle tissue	biolink:OntologyClass	hp	UMLS:C4021521		http://purl.obolibrary.org/obo/HP_0009141		Depletion of mitochondrial dna in skeletal muscle tissue
OBO:HP_0009142	Duplication of bones involving the upper extremities	biolink:OntologyClass	hp	UMLS:C4024574		http://purl.obolibrary.org/obo/HP_0009142		Duplication of bones involving the upper extremities
OBO:HP_0009144	Supernumerary bones of the axial skeleton	biolink:OntologyClass	hp	UMLS:C4024573		http://purl.obolibrary.org/obo/HP_0009144		
OBO:HP_0009145	Abnormal cerebral artery morphology	biolink:OntologyClass	hp	UMLS:C4021520	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.	http://purl.obolibrary.org/obo/HP_0009145		Abnormality of cerebral artery|Abnormality of the cerebral arteries
OBO:HP_0009147	Enlarged epiphysis of the distal phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024572	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.	http://purl.obolibrary.org/obo/HP_0009147		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
OBO:HP_0009148	Small epiphysis of the distal phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024571	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.	http://purl.obolibrary.org/obo/HP_0009148		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
OBO:HP_0009149	Triangular epiphysis of the distal phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4021519	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.	http://purl.obolibrary.org/obo/HP_0009149		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
OBO:HP_0009150	Abnormality of the proximal phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024570	Abnormality of the proximal phalanx of the little (5th) finger.	http://purl.obolibrary.org/obo/HP_0009150		Abnormality of the innermost bone little finger|Abnormality of the innermost bone pinkie finger|Abnormality of the innermost bone pinky finger
OBO:HP_0009152	Abnormality of the epiphyses of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024569	Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 5th finger.	http://purl.obolibrary.org/obo/HP_0009152		Abnormality of end part of little finger bone|Abnormality of end part of pinkie finger bone|Abnormality of end part of pinky finger bone
OBO:HP_0009153	Abnormality of the epiphysis of the proximal phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024568	Abnormality of the epiphysis of the proximal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx.	http://purl.obolibrary.org/obo/HP_0009153		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
OBO:HP_0009154	Triangular epiphysis of the proximal phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4021518	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.	http://purl.obolibrary.org/obo/HP_0009154		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
OBO:HP_0009155	Cone-shaped epiphysis of the proximal phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4020783|UMLS:C4020784	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.	http://purl.obolibrary.org/obo/HP_0009155		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
OBO:HP_0009157	Ivory epiphysis of the proximal phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4020782|UMLS:C4024567	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.	http://purl.obolibrary.org/obo/HP_0009157		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
OBO:HP_0009158	Enlarged epiphysis of the proximal phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024566	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.	http://purl.obolibrary.org/obo/HP_0009158		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
OBO:HP_0009159	Small epiphysis of the proximal phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024565	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.	http://purl.obolibrary.org/obo/HP_0009159		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
OBO:HP_0009160	Absent epiphysis of the proximal phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024564	Absence of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger.	http://purl.obolibrary.org/obo/HP_0009160		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
OBO:HP_0009161	Aplasia/Hypoplasia of the middle phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C1834034	Absence or underdevelopment (hypoplasia) of the middle phalanx of the little (5th) finger.	http://purl.obolibrary.org/obo/HP_0009161		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
OBO:HP_0009162	Absent middle phalanx of 5th finger	biolink:OntologyClass	hp	UMLS:C3277750	Absence of the middle phalanx of the little (5th) finger.	http://purl.obolibrary.org/obo/HP_0009162		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
OBO:HP_0009163	obsolete Abnormal form of the 5th finger	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0009163		
OBO:HP_0009164	Abnormal calcification of the carpal bones	biolink:OntologyClass	hp	UMLS:C1968592		http://purl.obolibrary.org/obo/HP_0009164		Abnormal calcification of the wrist bones|Carpal calcifications
OBO:HP_0009165	Stippling of the epiphysis of the distal phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024563	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 5th finger.	http://purl.obolibrary.org/obo/HP_0009165		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
OBO:HP_0009166	Fragmentation of the epiphysis of the distal phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024562	Fragmented appearance of the epiphysis of the distal phalanx of the 5th finger.	http://purl.obolibrary.org/obo/HP_0009166		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
OBO:HP_0009167	Irregular epiphysis of the distal phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024561	Irregular radiographic opacity of the epiphysis of the distal phalanx of the 5th finger.	http://purl.obolibrary.org/obo/HP_0009167		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
OBO:HP_0009168	Bullet-shaped middle phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024560	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.	http://purl.obolibrary.org/obo/HP_0009168		Bullet-shaped middle little finger bone|Bullet-shaped middle pinkie finger bone|Bullet-shaped middle pinky finger bone
OBO:HP_0009169	Broad middle phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4021517	Increased width of the middle phalanx of the 5th finger.	http://purl.obolibrary.org/obo/HP_0009169		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
OBO:HP_0009170	Osteolytic defects of the middle phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024559	Dissolution or degeneration of bone tissue of the middle phalanx of the 5th finger.	http://purl.obolibrary.org/obo/HP_0009170		
OBO:HP_0009171	Triangular epiphyses of the metacarpals	biolink:OntologyClass	hp	UMLS:C4024558	A triangular appearance of the epiphyses of the metacarpals. Thess epiphyses are located at the distal end of the metacarpals.	http://purl.obolibrary.org/obo/HP_0009171		Triangular end part of the long bone of hand
OBO:HP_0009172	Abnormal 4th finger phalanx morphology	biolink:OntologyClass	hp	UMLS:C4021516	Abnormality of the phalanges of the 4th (ring) finger.	http://purl.obolibrary.org/obo/HP_0009172		Abnormal bones of 4th finger|Abnormality of the phalanges of the ring finger
OBO:HP_0009173	Curved middle phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024557	Curved appearance of the middle phalanx of the 5th finger.	http://purl.obolibrary.org/obo/HP_0009173		Curved middle bone of little finger|Curved middle bone of pinkie finger|Curved middle bone of pinky finger
OBO:HP_0009174	Abnormality of the epiphyses of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024556	Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 4th finger.	http://purl.obolibrary.org/obo/HP_0009174		Abnormality of the end part of the ring finger
OBO:HP_0009175	Patchy sclerosis of the middle phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024555	Patchy increase in bone density of the middle phalanx of the 5th finger.	http://purl.obolibrary.org/obo/HP_0009175		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
OBO:HP_0009177	Proximal/middle symphalangism of 5th finger	biolink:OntologyClass	hp	UMLS:C1836212	Fusion of the proximal and middle phalanges of the 5th finger.	http://purl.obolibrary.org/obo/HP_0009177		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
OBO:HP_0009178	Symphalangism of middle phalanx of 5th finger	biolink:OntologyClass	hp	UMLS:C4024554	Fusion of the middle phalanx of the 5th finger with another bone.	http://purl.obolibrary.org/obo/HP_0009178		Fused middle bones of little finger|Fused middle bones of pinkie finger|Fused middle bones of pinky finger
OBO:HP_0009179	Deviation of the 5th finger	biolink:OntologyClass	hp	UMLS:C4021515	Displacement of the 5th finger from its normal position.	http://purl.obolibrary.org/obo/HP_0009179		Displaced little finger|Displaced pinkie finger|Displaced pinky finger|Laterally displaced fifth finger
OBO:HP_0009180	Ulnar deviation of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024553	Displacement of the 5th finger towards the ulnar side.	http://purl.obolibrary.org/obo/HP_0009180		
OBO:HP_0009182	Triangular shaped middle phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024552	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.	http://purl.obolibrary.org/obo/HP_0009182		Triangular shaped middle little finger bone|Triangular shaped middle pinkie finger bone|Triangular shaped middle pinky finger bone
OBO:HP_0009183	Joint contracture of the 5th finger	biolink:OntologyClass	hp	UMLS:C1865702	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.	http://purl.obolibrary.org/obo/HP_0009183		5th finger camptodactyly|Fifth finger camptodactyly
OBO:HP_0009184	Contracture of the distal interphalangeal joint of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024551	Chronic loss of joint motion of the distal interphalangeal joint of the 5th finger due to structural changes in non-bony tissue.	http://purl.obolibrary.org/obo/HP_0009184		
OBO:HP_0009185	Contracture of the proximal interphalangeal joint of the 5th finger	biolink:OntologyClass	hp	UMLS:C3554612	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.	http://purl.obolibrary.org/obo/HP_0009185		
OBO:HP_0009186	Contracture of the metacarpophalangeal joint of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024550	Chronic loss of joint motion of the metacarpophalangeal joint of the 5th finger due to structural changes in non-bony tissue.	http://purl.obolibrary.org/obo/HP_0009186		
OBO:HP_0009187	Bracket epiphysis of the distal phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024549	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.	http://purl.obolibrary.org/obo/HP_0009187		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
OBO:HP_0009188	Pseudoepiphysis of the distal phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024548	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.	http://purl.obolibrary.org/obo/HP_0009188		
OBO:HP_0009189	Fragmentation of the metacarpal epiphyses	biolink:OntologyClass	hp	UMLS:C4024547	Fragmented appearance of the epiphyses of the metacarpals.	http://purl.obolibrary.org/obo/HP_0009189		Fragmentation of end part of the long bone of hand
OBO:HP_0009190	Irregular epiphyses of the metacarpals	biolink:OntologyClass	hp	UMLS:C4024546	Irregular radiographic opacity of the epiphyses of the metacarpals.	http://purl.obolibrary.org/obo/HP_0009190		Irregular end part of the long bone of hand
OBO:HP_0009191	Ivory epiphyses of the metacarpals	biolink:OntologyClass	hp	UMLS:C4024545	Sclerosis of the epiphyses of the metacarpals, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.	http://purl.obolibrary.org/obo/HP_0009191		Increased bone density of end part of the long bone of hands
OBO:HP_0009192	Aplasia/Hypoplasia of the proximal phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024544	Absence or underdevelopment (hypoplasia) of the proximal phalanx of the little (5th) finger.	http://purl.obolibrary.org/obo/HP_0009192		Absent/small innermost little finger bone|Absent/small innermost pinkie finger bone|Absent/small innermost pinky finger bone|Absent/underdeveloped innermost pinky finger bone
OBO:HP_0009193	Pseudoepiphyses of the metacarpals	biolink:OntologyClass	hp	UMLS:C1860253	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.	http://purl.obolibrary.org/obo/HP_0009193		Accessory proximal metacarpal ossification centers|Metacarpal pseudoepiphyses
OBO:HP_0009194	Small epiphyses of the metacarpals	biolink:OntologyClass	hp	UMLS:C4024543	Abnormally small size of the epiphyses located at the distal end of the metacarpals in respect to age-dependent norms.	http://purl.obolibrary.org/obo/HP_0009194		Small end part of the long bone of hand
OBO:HP_0009195	Epiphyseal stippling of the metacarpals	biolink:OntologyClass	hp	UMLS:C4021514	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the metacarpals.	http://purl.obolibrary.org/obo/HP_0009195		Speckled calcifications in end part of the long bone of hand|Stippling of the epiphyses of the metacarpals
OBO:HP_0009196	Absent metacarpal epiphyses	biolink:OntologyClass	hp	UMLS:C4021513	Absence of the epiphyses of the metacarpal bones, which are normally located at the distal ends of the metacarpals.	http://purl.obolibrary.org/obo/HP_0009196		Absent end part of the long bone of hand|Absent metacarpal ossification center
OBO:HP_0009197	Bracket epiphysis of the proximal phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024542	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.	http://purl.obolibrary.org/obo/HP_0009197		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
OBO:HP_0009198	Abnormality of the epiphysis of the distal phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4021512	Abnormality of the epiphysis of the distal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx.	http://purl.obolibrary.org/obo/HP_0009198		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
OBO:HP_0009199	Irregular epiphysis of the proximal phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024541	Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 5th finger.	http://purl.obolibrary.org/obo/HP_0009199		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
OBO:HP_0009200	Pseudoepiphysis of the proximal phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024540	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.	http://purl.obolibrary.org/obo/HP_0009200		
OBO:HP_0009201	Stippling of the epiphysis of the proximal phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024539	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 5th finger.	http://purl.obolibrary.org/obo/HP_0009201		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
OBO:HP_0009202	Fragmentation of the epiphysis of the proximal phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024538	Fragmented appearance of the epiphysis of the proximal phalanx of the 5th finger.	http://purl.obolibrary.org/obo/HP_0009202		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
OBO:HP_0009203	Absent epiphysis of the middle phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024537	Absence of the epiphysis located at the proximal end of the middle phalanx of the 5th finger.	http://purl.obolibrary.org/obo/HP_0009203		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
OBO:HP_0009204	Bracket epiphysis of the middle phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024536	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.	http://purl.obolibrary.org/obo/HP_0009204		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
OBO:HP_0009205	Cone-shaped epiphysis of the middle phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024535	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.	http://purl.obolibrary.org/obo/HP_0009205		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
OBO:HP_0009206	Enlarged epiphysis of the middle phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024534	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.	http://purl.obolibrary.org/obo/HP_0009206		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
OBO:HP_0009207	Fragmentation of the epiphysis of the middle phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024533	Fragmented appearance of the epiphysis of the middle phalanx of the 5th finger.	http://purl.obolibrary.org/obo/HP_0009207		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
OBO:HP_0009208	Irregular epiphysis of the middle phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024532	Irregular radiographic opacity of the epiphysis of the middle phalanx of the 5th finger.	http://purl.obolibrary.org/obo/HP_0009208		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
OBO:HP_0009209	Ivory epiphysis of the middle phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024531	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.	http://purl.obolibrary.org/obo/HP_0009209		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
OBO:HP_0009210	Pseudoepiphysis of the middle phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024530	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.	http://purl.obolibrary.org/obo/HP_0009210		
OBO:HP_0009211	Small epiphysis of the middle phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024529	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.	http://purl.obolibrary.org/obo/HP_0009211		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
OBO:HP_0009212	Stippling of the epiphysis of the middle phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024528	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 5th finger.	http://purl.obolibrary.org/obo/HP_0009212		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
OBO:HP_0009213	Triangular epiphysis of the middle phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4021511	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.	http://purl.obolibrary.org/obo/HP_0009213		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
OBO:HP_0009214	Absent epiphysis of the middle phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024527	Absence of the epiphysis located at the proximal end of the middle phalanx of the 4th finger.	http://purl.obolibrary.org/obo/HP_0009214		Absent end part of the middle bone of the ring finger
OBO:HP_0009215	Bracket epiphysis of the middle phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024526	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.	http://purl.obolibrary.org/obo/HP_0009215		Bracket shaped end part of the middle bone of the ring finger
OBO:HP_0009216	Cone-shaped epiphysis of the middle phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024525	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.	http://purl.obolibrary.org/obo/HP_0009216		Cone-shaped end part of the middle bone of the ring finger
OBO:HP_0009217	Enlarged epiphysis of the middle phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024524	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.	http://purl.obolibrary.org/obo/HP_0009217		Enlarged end part of the middle bone of the ring finger
OBO:HP_0009218	Fragmentation of the epiphysis of the middle phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024523	Fragmented appearance of the epiphysis of the middle phalanx of the 4th finger.	http://purl.obolibrary.org/obo/HP_0009218		Fragmentation of end part of the middle bone of the ring finger
OBO:HP_0009219	Irregular epiphysis of the middle phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024522	Irregular radiographic opacity of the epiphysis of the middle phalanx of the 4th finger.	http://purl.obolibrary.org/obo/HP_0009219		Irregular end part of the middle bone of the ring finger
OBO:HP_0009220	Ivory epiphysis of the middle phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024521	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.	http://purl.obolibrary.org/obo/HP_0009220		Increased bone density of end part of the middle ring finger bone
OBO:HP_0009221	Pseudoepiphysis of the middle phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024520	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.	http://purl.obolibrary.org/obo/HP_0009221		
OBO:HP_0009222	Small epiphysis of the middle phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024519	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.	http://purl.obolibrary.org/obo/HP_0009222		Small end part of the middle bone of the ring finger
OBO:HP_0009223	Stippling of the epiphysis of the middle phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024518	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 4th finger.	http://purl.obolibrary.org/obo/HP_0009223		Speckled calcifications in end part of the middle bone of the ring finger
OBO:HP_0009224	Triangular epiphysis of the middle phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4021510	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.	http://purl.obolibrary.org/obo/HP_0009224		Triangular end part of the middle bone of the ring finger|Delta-shaped epiphysis of the middle phalanx of the 4th finger
OBO:HP_0009225	Aplasia of the proximal phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024517	Absence of the proximal phalanx of the little (5th) finger.	http://purl.obolibrary.org/obo/HP_0009225		Absent innermost bone of little finger|Absent innermost bone of pinkie finger|Absent innermost bone of pinky finger
OBO:HP_0009226	Short proximal phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4021509	Hypoplastic/small proximal phalanx of the fifth finger.	http://purl.obolibrary.org/obo/HP_0009226		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
OBO:HP_0009227	Broad proximal phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4021508	Increased width of the proximal phalanx of the 5th finger.	http://purl.obolibrary.org/obo/HP_0009227		Broad innermost little finger bone|Broad innermost pinkie finger bone|Broad innermost pinky finger bone|Wide proximal phalanx of the 5th finger
OBO:HP_0009228	Bullet-shaped proximal phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024516	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.	http://purl.obolibrary.org/obo/HP_0009228		Bullet-shaped innermost little finger bone|Bullet-shaped innermost pinkie finger bone|Bullet-shaped innermost pinky finger bone
OBO:HP_0009229	Curved proximal phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024515	Curved appearance of the proximal phalanx of the 5th finger.	http://purl.obolibrary.org/obo/HP_0009229		Curved innermost bone of little finger|Curved innermost bone of pinkie finger|Curved innermost bone of pinky finger
OBO:HP_0009230	Osteolytic defects of the proximal phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024514	Dissolution or degeneration of bone tissue of the proximal phalanx of the 5th finger.	http://purl.obolibrary.org/obo/HP_0009230		
OBO:HP_0009231	Patchy sclerosis of the proximal phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024513	Patchy increase in bone density of the proximal phalanx of the 5th finger.	http://purl.obolibrary.org/obo/HP_0009231		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
OBO:HP_0009232	Symphalangism affecting the proximal phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024512	Fusion of the proximal phalanx of the 5th finger with another bone.	http://purl.obolibrary.org/obo/HP_0009232		Fused innermost bone of little finger|Fused innermost bone of pinkie finger|Fused innermost bone of pinky finger
OBO:HP_0009233	Triangular shaped proximal phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024511	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.	http://purl.obolibrary.org/obo/HP_0009233		Triangular shaped innermost little finger bone|Triangular shaped innermost pinkie finger bone|Triangular shaped innermost pinky finger bone
OBO:HP_0009234	Symphalangism of the proximal phalanx of the 5th finger with the 5th metacarpal	biolink:OntologyClass	hp	UMLS:C4024510	Fusion of the proximal phalanx of the 5th finger with the 5th metacarpal.	http://purl.obolibrary.org/obo/HP_0009234		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
OBO:HP_0009236	Rhomboid or triangular shaped 5th finger proximal phalanx	biolink:OntologyClass	hp	UMLS:C4024509	Rhomboid or triangular shaped 5th (little) finger proximal phalanx.	http://purl.obolibrary.org/obo/HP_0009236		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
OBO:HP_0009237	Short 5th finger	biolink:OntologyClass	hp	UMLS:C1842878	Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger.	http://purl.obolibrary.org/obo/HP_0009237		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
OBO:HP_0009238	Aplasia of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024508	Absent 5th (little) finger.	http://purl.obolibrary.org/obo/HP_0009238		Absent little finger|Absent pinkie finger|Absent pinky finger
OBO:HP_0009239	Aplasia/Hypoplasia of the distal phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024507		http://purl.obolibrary.org/obo/HP_0009239		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
OBO:HP_0009240	Broad distal phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024506	Increased width of the distal phalanx of the 5th finger.	http://purl.obolibrary.org/obo/HP_0009240		Broad outermost little finger bone|Broad outermost pinkie finger bone|Broad outermost pinky finger bone|Wide outermost pinky finger bone
OBO:HP_0009241	Bullet-shaped distal phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024505	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.	http://purl.obolibrary.org/obo/HP_0009241		Bullet-shaped outermost little finger bone|Bullet-shaped outermost pinkie finger bone|Bullet-shaped outermost pinky finger bone
OBO:HP_0009242	Osteolytic defects of the distal phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024504	Dissolution or degeneration of bone tissue of the distal phalanx of the 5th finger.	http://purl.obolibrary.org/obo/HP_0009242		
OBO:HP_0009243	Patchy sclerosis of the distal phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024503	Patchy increase in bone density of the distal phalanx of the 5th finger.	http://purl.obolibrary.org/obo/HP_0009243		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
OBO:HP_0009244	Distal/middle symphalangism of 5th finger	biolink:OntologyClass	hp	UMLS:C1868573|UMLS:C4020781	Fusion of the terminal/distal and middle phalanges of the 5th finger.	http://purl.obolibrary.org/obo/HP_0009244		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
OBO:HP_0009245	Triangular shaped distal phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024502	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.	http://purl.obolibrary.org/obo/HP_0009245		Triangular shaped outermost little finger bone|Triangular shaped outermost pinkie finger bone|Triangular shaped outermost pinky finger bone
OBO:HP_0009246	Aplasia of the distal phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024501	Absence of the distal phalanx of the little (5th) finger.	http://purl.obolibrary.org/obo/HP_0009246		Absent outermost little finger bone|Absent outermost pinkie finger bone|Absent outermost pinky finger bone
OBO:HP_0009247	Abnormality of the epiphysis of the middle phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024500		http://purl.obolibrary.org/obo/HP_0009247		Abnormality of the end part of the middle bone of the ring finger
OBO:HP_0009248	Abnormality of the epiphysis of the proximal phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024499		http://purl.obolibrary.org/obo/HP_0009248		Abnormality of the end part of the innermost bone of the ring finger
OBO:HP_0009249	Abnormality of the epiphysis of the distal phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024498		http://purl.obolibrary.org/obo/HP_0009249		Abnormality of the end part of the outermost bone of the ring finger
OBO:HP_0009250	Absent epiphysis of the distal phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024497	Absence of the epiphysis located at the proximal end of the distal phalanx of the 4th finger.	http://purl.obolibrary.org/obo/HP_0009250		Absent end part of the outermost bone of the ring finger
OBO:HP_0009251	Bracket epiphysis of the distal phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024496	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.	http://purl.obolibrary.org/obo/HP_0009251		Bracket shaped end part of the outermost bone of the ring finger
OBO:HP_0009252	Cone-shaped epiphysis of the distal phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024495	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.	http://purl.obolibrary.org/obo/HP_0009252		Cone-shaped end part of the outermost bone of the ring finger
OBO:HP_0009253	Enlarged epiphysis of the distal phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024494	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.	http://purl.obolibrary.org/obo/HP_0009253		Enlarged end part of the outermost bone of the ring finger
OBO:HP_0009254	Fragmentation of the epiphysis of the distal phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024493	Fragmented appearance of the epiphysis of the distal phalanx of the 4th finger.	http://purl.obolibrary.org/obo/HP_0009254		Fragmentation of end part of the outermost bone of the ring finger
OBO:HP_0009255	Irregular epiphysis of the distal phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024492	Irregular radiographic opacity of the epiphysis of the distal phalanx of the 4th finger.	http://purl.obolibrary.org/obo/HP_0009255		Irregular end part of the outermost bone of the ring finger
OBO:HP_0009256	Ivory epiphysis of the distal phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024491	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.	http://purl.obolibrary.org/obo/HP_0009256		Increased bone density of end part of the outermost ring finger bone
OBO:HP_0009257	Pseudoepiphysis of the distal phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024490	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.	http://purl.obolibrary.org/obo/HP_0009257		
OBO:HP_0009258	Small epiphysis of the distal phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024489	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.	http://purl.obolibrary.org/obo/HP_0009258		Small end part of the outermost bone of the ring finger
OBO:HP_0009259	Stippling of the epiphysis of the distal phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024488	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 4th finger.	http://purl.obolibrary.org/obo/HP_0009259		Speckled calcifications in the end part of the outermost bone of the ring finger
OBO:HP_0009260	Triangular epiphysis of the distal phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4021507	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.	http://purl.obolibrary.org/obo/HP_0009260		Triangular end part of the outermost bone of ring finger|Delta-shaped epiphysis of the distal phalanx of the 4th finger
OBO:HP_0009261	Absent epiphysis of the proximal phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024487	Absence of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger.	http://purl.obolibrary.org/obo/HP_0009261		Absent end part of the innermost bone of the ring finger
OBO:HP_0009262	Bracket epiphysis of the proximal phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4021506	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.	http://purl.obolibrary.org/obo/HP_0009262		Bracket shaped end part of the innermost bone of the ring finger|Bracket proximal epiphysis of the ring finger
OBO:HP_0009263	Cone-shaped epiphysis of the proximal phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024486	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.	http://purl.obolibrary.org/obo/HP_0009263		Cone-shaped end part of the innermost bone of the ring finger
OBO:HP_0009264	Enlarged epiphysis of the proximal phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024485	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.	http://purl.obolibrary.org/obo/HP_0009264		Enlarged end part of the innermost bone of the ring finger
OBO:HP_0009265	Fragmentation of the epiphysis of the proximal phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024484	Fragmented appearance of the epiphysis of the proximal phalanx of the 4th finger.	http://purl.obolibrary.org/obo/HP_0009265		Fragmentation of end part of the innermost bone of the ring finger
OBO:HP_0009266	Irregular epiphysis of the proximal phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024483	Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 4th finger.	http://purl.obolibrary.org/obo/HP_0009266		Irregular end part of the innermost bone of the ring finger
OBO:HP_0009267	Ivory epiphysis of the proximal phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024482	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.	http://purl.obolibrary.org/obo/HP_0009267		Increased bone density of end part of the innermost ring finger bone
OBO:HP_0009268	Pseudoepiphysis of the proximal phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024481	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.	http://purl.obolibrary.org/obo/HP_0009268		
OBO:HP_0009269	Small epiphysis of the proximal phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024480	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.	http://purl.obolibrary.org/obo/HP_0009269		Small end part of the innermost bone of the ring finger
OBO:HP_0009270	Stippling of the epiphysis of the proximal phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024479	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 4th finger.	http://purl.obolibrary.org/obo/HP_0009270		Speckled calcifications in end part of the innermost bone of ring finger
OBO:HP_0009271	Triangular epiphysis of the proximal phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4021505	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.	http://purl.obolibrary.org/obo/HP_0009271		Triangular end part of the innermost bone of ring finger|Delta-shaped epiphysis of the proximal phalanx of the 4th finger
OBO:HP_0009272	Aplasia/Hypoplasia of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024478	A small/hypoplastic or absent/aplastic 4th (ring) finger.	http://purl.obolibrary.org/obo/HP_0009272		Absent/small ring finger bone|Absent/underdeveloped ring finger bone
OBO:HP_0009273	Deviation of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024477	Displacement of the 4th finger from its normal position.	http://purl.obolibrary.org/obo/HP_0009273		Deviation of the ring finger
OBO:HP_0009274	Joint contracture of the 4th finger	biolink:OntologyClass	hp	UMLS:C4021504	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.	http://purl.obolibrary.org/obo/HP_0009274		Joint contractures of the fourth finger
OBO:HP_0009275	Contracture of the distal interphalangeal joint of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024476	Chronic loss of joint motion of the distal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue.	http://purl.obolibrary.org/obo/HP_0009275		
OBO:HP_0009276	Contracture of the proximal interphalangeal joint of the 4th finger	biolink:OntologyClass	hp	UMLS:C4021503	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.	http://purl.obolibrary.org/obo/HP_0009276		4th finger camptodactyly|Camptodactyly of the 4th finger|Camptodactyly of the ring finger
OBO:HP_0009277	Contracture of the metacarpophalangeal joint of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024475	Chronic loss of joint motion of the metacarpophalangeal joint of the 4th finger due to structural changes in non-bony tissue.	http://purl.obolibrary.org/obo/HP_0009277		
OBO:HP_0009278	Ulnar deviation of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024474	Displacement of the 4th finger towards the ulnar side (i.e., towards the ring finger).	http://purl.obolibrary.org/obo/HP_0009278		Ulnar deviation of the ring finger
OBO:HP_0009279	Radial deviation of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024473	Displacement of the 4th finger towards the radial side (i.e., towards the thumb).	http://purl.obolibrary.org/obo/HP_0009279		Radial deviation of the ring finger
OBO:HP_0009280	Short 4th finger	biolink:OntologyClass	hp	UMLS:C4021502	Hypoplasia (congenital reduction in size) of the fourth finger, also known as the ring finger.	http://purl.obolibrary.org/obo/HP_0009280		Short ring finger|Hypoplastic/small 4th finger
OBO:HP_0009281	Aplasia of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024472	Absent 4th finger.	http://purl.obolibrary.org/obo/HP_0009281		Absent ring finger
OBO:HP_0009282	Abnormality of the distal phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024471		http://purl.obolibrary.org/obo/HP_0009282		Abnormality of the outermost bone of ring finger
OBO:HP_0009283	Abnormality of the middle phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4021501		http://purl.obolibrary.org/obo/HP_0009283		Abnormal middle bone of ring finger|Abnormality of the middle phalanx of the ring finger
OBO:HP_0009284	Abnormality of the proximal phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4021500		http://purl.obolibrary.org/obo/HP_0009284		Abnormal innermost bone of ring finger|Abnormality of the proximal phalanx of the ring finger
OBO:HP_0009285	Curved phalanges of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024470	Curved appearance of the phalanges of the 4th (ring) finger.	http://purl.obolibrary.org/obo/HP_0009285		Curved ring finger bone
OBO:HP_0009286	Curved distal phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024469	Curved appearance of the distal phalanx of the 4th (ring) finger.	http://purl.obolibrary.org/obo/HP_0009286		Curved outermost ring finger bone
OBO:HP_0009287	Curved middle phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024468	Curved appearance of the middle phalanx of the 4th (ring) finger.	http://purl.obolibrary.org/obo/HP_0009287		Curved middle ring finger bone
OBO:HP_0009288	Curved proximal phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024467		http://purl.obolibrary.org/obo/HP_0009288		Curved innermost ring finger bone
OBO:HP_0009289	Aplasia/Hypoplasia of the distal phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024466		http://purl.obolibrary.org/obo/HP_0009289		Absent/small outermost ring finger bone|Absent/underdeveloped outermost ring finger bone
OBO:HP_0009290	Short distal phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4021499	Hypoplastic/small distal phalanx of the fourth finger.	http://purl.obolibrary.org/obo/HP_0009290		Short outermost bone of ring finger|Hypoplastic/small distal phalanx of the 4th finger|Short distal phalanx of the fourth finger
OBO:HP_0009291	Aplasia of the distal phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024465	Absence of the distal phalanx of the ring (4th) finger.	http://purl.obolibrary.org/obo/HP_0009291		Absent outermost bone of ring finger
OBO:HP_0009292	Broad distal phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024464	Increased width of the distal phalanx of the 4th finger.	http://purl.obolibrary.org/obo/HP_0009292		Broad outermost bone of ring finger|Wide outermost bone of ring finger
OBO:HP_0009293	Broad middle phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024463	Increased width of the middle phalanx of the 4th finger.	http://purl.obolibrary.org/obo/HP_0009293		Broad middle bone of the 4th finger
OBO:HP_0009294	Absent middle phalanx of 4th finger	biolink:OntologyClass	hp	UMLS:C4021498	Absence of the middle phalanx of the ring (4th) finger.	http://purl.obolibrary.org/obo/HP_0009294		Absent middle bone of 4th finger|Aplasia of the middle phalanx of the 4th finger
OBO:HP_0009295	Short middle phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4021497	Hypoplastic/small middle phalanx of the 4th finger, also known as the ring finger.	http://purl.obolibrary.org/obo/HP_0009295		Short middle bone of 4th finger|Hypoplastic/small middle phalanx of ring finger|Hypoplastic/small middle phalanx of the 4th finger|Short middle phalanx of ring finger
OBO:HP_0009296	Bullet-shaped middle phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024462	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.	http://purl.obolibrary.org/obo/HP_0009296		Bullet-shaped middle bone of the 4th finger
OBO:HP_0009297	Osteolytic defects of the middle phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024461	Dissolution or degeneration of bone tissue of the middle phalanx of the 4th finger.	http://purl.obolibrary.org/obo/HP_0009297		
OBO:HP_0009298	Aplasia of the proximal phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024460	Absence of the proximal phalanx of the ring (4th) finger.	http://purl.obolibrary.org/obo/HP_0009298		Absent innermost ring finger bone
OBO:HP_0009299	Aplasia/Hypoplasia of the middle phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024459		http://purl.obolibrary.org/obo/HP_0009299		Absent/small middle ring finger bone|Absent/underdeveloped middle ring finger bone
OBO:HP_0009300	Aplasia/Hypoplasia of the proximal phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4020658		http://purl.obolibrary.org/obo/HP_0009300		Absent/small innermost ring finger bone|Absent/underdeveloped innermost ring finger bone
OBO:HP_0009301	Short proximal phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4021496	Hypoplastic/small proximal phalanx of the fourth finger.	http://purl.obolibrary.org/obo/HP_0009301		Short innermost bone of the ring finger|Hypoplastic/small proximal phalanx of the 4th finger|Short proximal phalanx of the fourth finger
OBO:HP_0009302	Bullet-shaped distal phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024458	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.	http://purl.obolibrary.org/obo/HP_0009302		Bullet-shaped outermost bone of ring finger
OBO:HP_0009303	Osteolytic defects of the distal phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024457	Dissolution or degeneration of bone tissue of the distal phalanx of the 4th finger.	http://purl.obolibrary.org/obo/HP_0009303		
OBO:HP_0009304	Patchy sclerosis of the distal phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024456	Uneven (irregular) increase in bone density of the distal phalanx of the fourth finger.	http://purl.obolibrary.org/obo/HP_0009304		Uneven increase in bone density in the outermost bone of the ring finger
OBO:HP_0009305	Distal/middle symphalangism of 4th finger	biolink:OntologyClass	hp	UMLS:C4021495	Fusion of the terminal/distal and middle phalanges of the 4th finger.	http://purl.obolibrary.org/obo/HP_0009305		Fused outermost and middle bones of ring finger|Symphalangism of the distal and middle phalanges of the 4th finger
OBO:HP_0009306	Triangular shaped distal phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024455	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.	http://purl.obolibrary.org/obo/HP_0009306		Triangular shaped outermost bone of the ring finger
OBO:HP_0009307	Patchy sclerosis of the middle phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024454	Uneven (irregular) increase in bone density of the middle phalanx of the fourth finger.	http://purl.obolibrary.org/obo/HP_0009307		Uneven increase in bone density in the middle bone of the ring finger
OBO:HP_0009308	Symphalangism of middle phalanx of 4th finger	biolink:OntologyClass	hp	UMLS:C4024453	Fusion of the middle phalanx of the 4th finger with another bone.	http://purl.obolibrary.org/obo/HP_0009308		Fused middle bone of ring finger
OBO:HP_0009309	Triangular shaped middle phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024452	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.	http://purl.obolibrary.org/obo/HP_0009309		Triangular shaped middle bone of the ring finger
OBO:HP_0009310	Broad proximal phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4020660	Increased width of the proximal phalanx of the 4th finger.	http://purl.obolibrary.org/obo/HP_0009310		Broad innermost ring finger bone
OBO:HP_0009311	Bullet-shaped proximal phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024451	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.	http://purl.obolibrary.org/obo/HP_0009311		Bullet-shaped innermost ring finger bone
OBO:HP_0009312	Osteolytic defects of the proximal phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024450	Dissolution or degeneration of bone tissue of the proximal phalanx of the 4th finger.	http://purl.obolibrary.org/obo/HP_0009312		
OBO:HP_0009313	Patchy sclerosis of the proximal phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024449	Uneven (irregular) increase in bone density of the proximal phalanx of the fourth finger.	http://purl.obolibrary.org/obo/HP_0009313		Uneven increase in bone density in the innermost bone of the ring finger
OBO:HP_0009314	Symphalangism affecting the proximal phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024448	Fusion of the proximal phalanx of the 4th finger with another bone.	http://purl.obolibrary.org/obo/HP_0009314		Fused innermost bone of ring finger
OBO:HP_0009315	Triangular shaped proximal phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024447	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.	http://purl.obolibrary.org/obo/HP_0009315		Triangular shaped innermost bone of the 4th finger|Triangular shaped innermost bone of the ring finger
OBO:HP_0009316	Abnormal 3rd finger phalanx morphology	biolink:OntologyClass	hp	UMLS:C4021494	Abnormality of the phalanges of the 3rd (middle) finger.	http://purl.obolibrary.org/obo/HP_0009316		Abnormality of the middle finger bones|Abnormality of 3rd finger phalanges|Abnormality of middle finger phalanges|Abnormality of the phalanges of the 3rd finger
OBO:HP_0009317	Deviation of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4021493	Displacement of the 3rd finger from its normal position.	http://purl.obolibrary.org/obo/HP_0009317		Deviated middle finger
OBO:HP_0009318	Aplasia/Hypoplasia of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024446	A small/hypoplastic or absent/aplastic 3rd (middle) finger.	http://purl.obolibrary.org/obo/HP_0009318		Absent/small middle finger|Absent/underdeveloped middle finger
OBO:HP_0009319	Joint contracture of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4021492	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.	http://purl.obolibrary.org/obo/HP_0009319		Camptodactyly of middle finger
OBO:HP_0009320	Abnormality of the epiphyses of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024445	Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 3rd finger.	http://purl.obolibrary.org/obo/HP_0009320		Abnormality of end part of the middle bone of the middle finger
OBO:HP_0009321	Absent epiphysis of the middle phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024444	Absence of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger.	http://purl.obolibrary.org/obo/HP_0009321		Absent end part of the middle bone of the middle finger
OBO:HP_0009322	Bracket epiphysis of the middle phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024443	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.	http://purl.obolibrary.org/obo/HP_0009322		Bracket shaped end part of the middle bone of the middle finger
OBO:HP_0009323	Cone-shaped epiphysis of the middle phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024442	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.	http://purl.obolibrary.org/obo/HP_0009323		Cone-shaped end part of the middle bone of the middle finger
OBO:HP_0009324	Enlarged epiphysis of the middle phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024441	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.	http://purl.obolibrary.org/obo/HP_0009324		Enlarged end part of the middle bone of the middle finger
OBO:HP_0009325	Fragmentation of the epiphysis of the middle phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024440	Fragmented appearance of the epiphysis of the middle phalanx of the 3rd finger.	http://purl.obolibrary.org/obo/HP_0009325		Fragmentation of end part of the middle bone of the middle finger
OBO:HP_0009326	Irregular epiphysis of the middle phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024439	Irregular radiographic opacity of the epiphysis of the middle phalanx of the 3rd finger.	http://purl.obolibrary.org/obo/HP_0009326		Irregular end part of the middle bone of the middle finger
OBO:HP_0009327	Ivory epiphysis of the middle phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024438	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.	http://purl.obolibrary.org/obo/HP_0009327		Increased bone density of end part of the middle bone of the middle finger
OBO:HP_0009328	Pseudoepiphysis of the middle phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4021491	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.	http://purl.obolibrary.org/obo/HP_0009328		Pseudoepiphyses of middle phalanx of middle-finger
OBO:HP_0009329	Small epiphysis of the middle phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024437	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.	http://purl.obolibrary.org/obo/HP_0009329		Small end part of the middle bone of the middle finger
OBO:HP_0009330	Stippling of the epiphysis of the middle phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024436	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 3rd finger.	http://purl.obolibrary.org/obo/HP_0009330		Speckled calcifications in end part of the middle bone of the middle finger
OBO:HP_0009331	Triangular epiphysis of the middle phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4021490	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.	http://purl.obolibrary.org/obo/HP_0009331		Triangular end part of the middle bone of the middle finger|Delta-shaped epiphysis of the middle phalanx of the 3rd finger
OBO:HP_0009332	Abnormality of the epiphysis of the distal phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024435		http://purl.obolibrary.org/obo/HP_0009332		Abnormality of the end part of the outermost bone of the middle finger
OBO:HP_0009333	Abnormality of the epiphysis of the proximal phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024434		http://purl.obolibrary.org/obo/HP_0009333		Abnormality of the end part of the innermost bone of the middle finger
OBO:HP_0009334	Abnormality of the epiphysis of the middle phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024433		http://purl.obolibrary.org/obo/HP_0009334		Abnormality of the middle part of the middle bone of the middle finger
OBO:HP_0009335	Absent epiphysis of the distal phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024432	Absence of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger.	http://purl.obolibrary.org/obo/HP_0009335		Absent end part of the outermost bone of the middle finger
OBO:HP_0009336	Bracket epiphysis of the distal phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024431	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.	http://purl.obolibrary.org/obo/HP_0009336		Bracket shaped end part of the outermost bone of the middle finger
OBO:HP_0009337	Cone-shaped epiphysis of the distal phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024430	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.	http://purl.obolibrary.org/obo/HP_0009337		Cone-shaped end part of the outermost bone of the middle finger
OBO:HP_0009338	Enlarged epiphysis of the distal phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024429	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.	http://purl.obolibrary.org/obo/HP_0009338		Enlarged end part of the outermost bone of the 3rd finger
OBO:HP_0009339	Fragmentation of the epiphysis of the distal phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024428	Fragmented appearance of the epiphysis of the distal phalanx of the 3rd finger.	http://purl.obolibrary.org/obo/HP_0009339		Fragmentation of end part of the outermost bone of the middle finger
OBO:HP_0009340	Irregular epiphysis of the distal phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024427	Irregular radiographic opacity of the epiphysis of the distal phalanx of the 3rd finger.	http://purl.obolibrary.org/obo/HP_0009340		Irregular end part of the outermost long bone of the middle finger
OBO:HP_0009341	Ivory epiphysis of the distal phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024426	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.	http://purl.obolibrary.org/obo/HP_0009341		Increased bone density of end part of the outermost middle finger bone
OBO:HP_0009342	Pseudoepiphysis of the distal phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024425	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.	http://purl.obolibrary.org/obo/HP_0009342		Pseudoepiphysis of the outermost bone of the middle finger
OBO:HP_0009343	Small epiphysis of the distal phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024424	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.	http://purl.obolibrary.org/obo/HP_0009343		Small end part of the outermost long bone of the middle finger
OBO:HP_0009344	Stippling of the epiphysis of the distal phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024423	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 3rd finger.	http://purl.obolibrary.org/obo/HP_0009344		Speckled calcifications in end part of the outermost long bone of the middle finger
OBO:HP_0009345	Triangular epiphysis of the distal phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4021489	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.	http://purl.obolibrary.org/obo/HP_0009345		Triangular end part of the outermost long bone of the middle finger|Delta-shaped epiphysis of the distal phalanx of the 3rd finger
OBO:HP_0009346	Absent epiphysis of the proximal phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024422	Absence of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger.	http://purl.obolibrary.org/obo/HP_0009346		Absent end part of innermost long bone of the middle finger
OBO:HP_0009347	Bracket epiphysis of the proximal phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024421	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.	http://purl.obolibrary.org/obo/HP_0009347		Bracket shaped end part of innermost long bone of the middle finger
OBO:HP_0009348	Cone-shaped epiphysis of the proximal phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024420	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.	http://purl.obolibrary.org/obo/HP_0009348		Cone-shaped end part of the innermost bone of the middle finger
OBO:HP_0009349	Enlarged epiphysis of the proximal phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4021488	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.	http://purl.obolibrary.org/obo/HP_0009349		Enlarged end part of innermost long bone of the middle finger|Large epiphysis of proximal middle-finger phalanx
OBO:HP_0009350	Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024419	Fragmented appearance of the epiphysis of the proximal phalanx of the 3rd finger.	http://purl.obolibrary.org/obo/HP_0009350		Fragmentation of end part of innermost long bone of the middle finger
OBO:HP_0009351	Irregular epiphysis of the proximal phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024418	Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 3rd finger.	http://purl.obolibrary.org/obo/HP_0009351		Irregular end part of innermost long bone of the middle finger
OBO:HP_0009352	Ivory epiphysis of the proximal phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024417	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.	http://purl.obolibrary.org/obo/HP_0009352		Increased bone density of end part of the innermost middle finger bone
OBO:HP_0009353	Pseudoepiphysis of the proximal phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024416	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.	http://purl.obolibrary.org/obo/HP_0009353		
OBO:HP_0009354	Small epiphysis of the proximal phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024415	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.	http://purl.obolibrary.org/obo/HP_0009354		Small end part of innermost long bone of the middle finger
OBO:HP_0009355	Stippling of the epiphysis of the proximal phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024414	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 3rd finger.	http://purl.obolibrary.org/obo/HP_0009355		Speckled calcifications in end part of innermost long bone of the middle finger
OBO:HP_0009356	Triangular epiphysis of the proximal phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4021487	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.	http://purl.obolibrary.org/obo/HP_0009356		Triangular end part of innermost long bone of the middle finger|Delta-shaped epiphysis of the proximal phalanx of the 3rd finger
OBO:HP_0009357	Abnormality of the distal phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4021486		http://purl.obolibrary.org/obo/HP_0009357		Abnormality of the outermost bone of the 3rd finger|Abnormality of terminal phalanx of middle-finger
OBO:HP_0009358	Abnormality of the proximal phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4021485		http://purl.obolibrary.org/obo/HP_0009358		Abnormal innermost bone of middle finger|Abnormality of proximal middle-finger phalanx
OBO:HP_0009370	Type A brachydactyly	biolink:OntologyClass	hp	UMLS:C4024413		http://purl.obolibrary.org/obo/HP_0009370		
OBO:HP_0009371	Type A1 brachydactyly	biolink:OntologyClass	hp	MSH:C537088|SNOMEDCT_US:715720006|UMLS:C1862151		http://purl.obolibrary.org/obo/HP_0009371		
OBO:HP_0009372	Type A2 brachydactyly	biolink:OntologyClass	hp	MSH:C537089|UMLS:C1832702		http://purl.obolibrary.org/obo/HP_0009372		Short index fingers and second toes
OBO:HP_0009373	Type C brachydactyly	biolink:OntologyClass	hp	MSH:C537093|UMLS:C1862103		http://purl.obolibrary.org/obo/HP_0009373		
OBO:HP_0009374	Broad phalanges of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024412	Increased width of the phalanges of the 5th finger.	http://purl.obolibrary.org/obo/HP_0009374		Broad little finger bones|Broad pinkie finger bones|Broad pinky finger bones
OBO:HP_0009375	Bullet-shaped phalanges of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024411	A fifth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.	http://purl.obolibrary.org/obo/HP_0009375		Bullet-shaped little finger bones|Bullet-shaped pinkie finger bones|Bullet-shaped pinky finger bones
OBO:HP_0009376	Aplasia/Hypoplasia of the phalanges of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024410	Aplasia/Hypoplasia of the phalanges of the 5th finger.	http://purl.obolibrary.org/obo/HP_0009376		Absent/small little finger bones|Absent/small pinkie finger bones|Absent/small pinky finger bones|Absent/underdeveloped pinky finger bones
OBO:HP_0009377	Patchy sclerosis of 5th finger phalanx	biolink:OntologyClass	hp	UMLS:C4021484	Uneven increase in bone density of one or more of the phalanges of the 5th finger.	http://purl.obolibrary.org/obo/HP_0009377		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
OBO:HP_0009378	Triangular shaped phalanges of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024409	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.	http://purl.obolibrary.org/obo/HP_0009378		Triangular shaped little finger bones|Triangular shaped pinkie finger bones|Triangular shaped pinky finger bones
OBO:HP_0009379	Rhomboid or triangular shaped 5th finger distal phalanx	biolink:OntologyClass	hp	UMLS:C4024408	Rhomboid or triangular shaped 5th (little) finger distal phalanx.	http://purl.obolibrary.org/obo/HP_0009379		Rhomboid or triangular shaped little finger bone|Rhomboid or triangular shaped pinkie finger bone|Rhomboid or triangular shaped pinky finger bone
OBO:HP_0009380	Aplasia of the fingers	biolink:OntologyClass	hp	SNOMEDCT_US:71358006|UMLS:C0728895	Aplasia of one or more fingers.	http://purl.obolibrary.org/obo/HP_0009380		Absent fingers
OBO:HP_0009381	Short finger	biolink:OntologyClass	hp	SNOMEDCT_US:249765007|UMLS:C0239594|UMLS:C1844548	Abnormally short finger associated with developmental hypoplasia.	http://purl.obolibrary.org/obo/HP_0009381	hposlim_core	Short finger|Stubby finger|Stubby fingers|Hypoplastic digits|Hypoplastic fingers|Hypoplastic/small fingers
OBO:HP_0009382	Absent epiphyses of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024407	Absence of one or more epiphyses of the 5th finger.	http://purl.obolibrary.org/obo/HP_0009382		Absent end part of little finger bone|Absent end part of pinkie finger bone|Absent end part of pinky finger bone
OBO:HP_0009383	Bracket epiphyses of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024406	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.	http://purl.obolibrary.org/obo/HP_0009383		Bracket shaped end part of little finger bone|Bracket shaped end part of pinkie finger bone|Bracket shaped end part of pinky finger bone
OBO:HP_0009384	Cone-shaped epiphyses of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024405	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.	http://purl.obolibrary.org/obo/HP_0009384		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
OBO:HP_0009385	Enlarged epiphyses of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024404	Abnormally large size of the epiphyses of the 5th finger with respect to age-dependent norms.	http://purl.obolibrary.org/obo/HP_0009385		Enlarged end part of the little finger bones|Enlarged end part of the pinkie finger bones|Enlarged end part of the pinky finger bones
OBO:HP_0009386	Fragmentation of the epiphyses of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024403	Fragmented appearance of the epiphyses of the 5th finger.	http://purl.obolibrary.org/obo/HP_0009386		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
OBO:HP_0009387	Irregular epiphyses of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024402	Irregular radiographic opacity of the epiphyses of the 5th finger.	http://purl.obolibrary.org/obo/HP_0009387		Irregular end part of the little finger bones|Irregular end part of the pinkie finger bones|Irregular end part of the pinky finger bones
OBO:HP_0009388	Ivory epiphyses of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024401	Sclerosis of the epiphyses of the 5th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.	http://purl.obolibrary.org/obo/HP_0009388		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
OBO:HP_0009389	Pseudoepiphyses of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024400	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.	http://purl.obolibrary.org/obo/HP_0009389		
OBO:HP_0009390	Small epiphyses of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024399	Abnormally small size of the epiphyses of the 5th finger with respect to age-dependent norms.	http://purl.obolibrary.org/obo/HP_0009390		Small end part of little finger bone|Small end part of pinkie finger bone|Small end part of pinky finger bone
OBO:HP_0009391	Stippling of the epiphyses of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024398	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th finger.	http://purl.obolibrary.org/obo/HP_0009391		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
OBO:HP_0009392	Triangular epiphyses of the 5th finger	biolink:OntologyClass	hp	UMLS:C4021483	A triangular appearance of the epiphyses of the 5th finger of the hand.	http://purl.obolibrary.org/obo/HP_0009392		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
OBO:HP_0009393	Absent epiphyses of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024397	Absence of one or more epiphyses of the 4th finger.	http://purl.obolibrary.org/obo/HP_0009393		Absent end part of the ring finger bone
OBO:HP_0009394	Bracket epiphyses of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024396	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.	http://purl.obolibrary.org/obo/HP_0009394		Bracket shaped end part of ring finger bones
OBO:HP_0009395	Cone-shaped epiphyses of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024395	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.	http://purl.obolibrary.org/obo/HP_0009395		Cone-shaped end part of the ring finger bones
OBO:HP_0009396	Enlarged epiphyses of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024394	Abnormally large size of the epiphyses of the 4th finger with respect to age-dependent norms.	http://purl.obolibrary.org/obo/HP_0009396		Enlarged end part of the ring finger bones
OBO:HP_0009397	Fragmentation of the epiphyses of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024393	Fragmented appearance of the epiphyses of the 4th finger.	http://purl.obolibrary.org/obo/HP_0009397		Fragmentation of the end part of the ring finger bones
OBO:HP_0009398	Irregular epiphyses of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024392	Irregular radiographic opacity of the epiphyses of the 4th finger.	http://purl.obolibrary.org/obo/HP_0009398		Irregular end part of the ring finger bones
OBO:HP_0009399	Ivory epiphyses of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024391	Sclerosis of the epiphyses of the 4th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.	http://purl.obolibrary.org/obo/HP_0009399		Increased bone density of end part of the ring finger bone
OBO:HP_0009400	Pseudoepiphyses of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024390	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.	http://purl.obolibrary.org/obo/HP_0009400		
OBO:HP_0009401	Small epiphyses of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024389	Abnormally small size of the epiphyses of the 4th finger with respect to age-dependent norms.	http://purl.obolibrary.org/obo/HP_0009401		Small end part of ring finger bone
OBO:HP_0009402	Stippling of the epiphyses of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024388	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th finger.	http://purl.obolibrary.org/obo/HP_0009402		Speckled calcifications in end part of ring finger bone
OBO:HP_0009403	Triangular epiphyses of the 4th finger	biolink:OntologyClass	hp	UMLS:C4021482	A triangular appearance of the epiphyses of the 4th finger of the hand.	http://purl.obolibrary.org/obo/HP_0009403		Triangular end part of ring finger bone|Delta-shaped epiphyses of the 4th finger
OBO:HP_0009404	Broad phalanges of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024387	Increased width of the phalanges of the 4th finger.	http://purl.obolibrary.org/obo/HP_0009404		Broad bones of ring finger
OBO:HP_0009405	Bullet-shaped phalanges of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024386	A fourth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.	http://purl.obolibrary.org/obo/HP_0009405		Bullet-shaped of bone of ring finger
OBO:HP_0009406	Patchy sclerosis of 4th finger phalanx	biolink:OntologyClass	hp	UMLS:C4021481	Uneven increase in bone density of one or more of the phalanges of the fourth (ring) finger.	http://purl.obolibrary.org/obo/HP_0009406		Uneven increase in bone density in ring finger bone|Patchy sclerosis of the phalanges of the 4th finger
OBO:HP_0009407	Triangular shaped phalanges of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024385	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.	http://purl.obolibrary.org/obo/HP_0009407		Triangular shaped bone of ring finger
OBO:HP_0009408	Aplasia/Hypoplasia of the phalanges of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024384		http://purl.obolibrary.org/obo/HP_0009408		Absent/small ring finger bones|Absent/underdeveloped ring finger bones
OBO:HP_0009410	Absent epiphyses of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024383	Absence of the epiphyses of the 3rd finger.	http://purl.obolibrary.org/obo/HP_0009410		Absent end part of middle finger bone
OBO:HP_0009411	Bracket epiphyses of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024382	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.	http://purl.obolibrary.org/obo/HP_0009411		Bracket shaped end part of middle finger bone
OBO:HP_0009412	Cone-shaped epiphyses of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024381	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.	http://purl.obolibrary.org/obo/HP_0009412		Cone-shaped end part of middle finger bone
OBO:HP_0009413	Enlarged epiphyses of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024380	Abnormally large size of the epiphyses of the 3rd finger with respect to age-dependent norms.	http://purl.obolibrary.org/obo/HP_0009413		Enlarged end part of middle finger bone
OBO:HP_0009414	Fragmentation of the epiphyses of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024379	Fragmented appearance of the epiphyses of the 3rd finger.	http://purl.obolibrary.org/obo/HP_0009414		Fragmentation of end part of middle finger bone
OBO:HP_0009415	Irregular epiphyses of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024378	Irregular radiographic opacity of the epiphyses of the 3rd finger.	http://purl.obolibrary.org/obo/HP_0009415		Irregular end part of middle finger bone
OBO:HP_0009416	Ivory epiphyses of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024377	Sclerosis of the epiphyses of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.	http://purl.obolibrary.org/obo/HP_0009416		Increased bone density of end part of the middle finger bone
OBO:HP_0009417	Pseudoepiphyses of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4021480	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.	http://purl.obolibrary.org/obo/HP_0009417		Pseudoepiphyses of middle finger phalanges
OBO:HP_0009418	Small epiphyses of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024376	Abnormally small size of the epiphyses of the 3rd finger with respect to age-dependent norms.	http://purl.obolibrary.org/obo/HP_0009418		Small end part of middle finger bone
OBO:HP_0009419	Stippling of the epiphyses of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024375	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd finger.	http://purl.obolibrary.org/obo/HP_0009419		Speckled calcifications in end part of middle finger bone
OBO:HP_0009420	Triangular epiphyses of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4021479	A triangular appearance of the epiphyses of the 3rd finger of the hand.	http://purl.obolibrary.org/obo/HP_0009420		Triangular end part of middle finger bone|Delta-shaped epiphyses of the 3rd finger
OBO:HP_0009421	Aplasia/Hypoplasia of the distal phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024374		http://purl.obolibrary.org/obo/HP_0009421		Absent/small outermost middle finger bone|Absent/underdeveloped outermost middle finger bone
OBO:HP_0009422	Broad distal phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024373	Increased width of the distal phalanx of the 3rd finger.	http://purl.obolibrary.org/obo/HP_0009422		Broad outermost bone of middle finger
OBO:HP_0009423	Bullet-shaped distal phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024372	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.	http://purl.obolibrary.org/obo/HP_0009423		Bullet-shaped outermost bone of the middle finger
OBO:HP_0009424	Osteolytic defects of the distal phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4021478	Dissolution or degeneration of bone tissue of the distal phalanx of the 3rd finger.	http://purl.obolibrary.org/obo/HP_0009424		Lytic defect of terminal phalanx of middle finger
OBO:HP_0009425	Patchy sclerosis of the distal phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024371	Uneven (irregular) increase in bone density of the distal phalanx of the third finger.	http://purl.obolibrary.org/obo/HP_0009425		Uneven increase in bone density in the outermost bone of the 3rd finger
OBO:HP_0009426	Distal/middle symphalangism of 3rd finger	biolink:OntologyClass	hp	UMLS:C4021477	Fusion of the terminal/distal and middle phalanges of the 3rd finger.	http://purl.obolibrary.org/obo/HP_0009426		Fused outermost and middle bones of middle finger|Symphalangism of the distal and middle phalanges of the 3rd finger
OBO:HP_0009427	Triangular shaped distal phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024370	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.	http://purl.obolibrary.org/obo/HP_0009427		Triangular shaped outermost bone of the middle finger
OBO:HP_0009428	Curved distal phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024369	Curved appearance of the distal phalanx of the 3rd finger.	http://purl.obolibrary.org/obo/HP_0009428		Curved outermost bone of the 3rd finger
OBO:HP_0009429	Aplasia of the distal phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024368	Absence of the distal phalanx of the middle (3rd) finger.	http://purl.obolibrary.org/obo/HP_0009429		Absent of the outermost bone of the middle finger
OBO:HP_0009430	Broad middle phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4021476	Increased width of the middle phalanx of the 3rd finger.	http://purl.obolibrary.org/obo/HP_0009430		Broad middle bone of middle finger|Wide/broad middle phalanx of middle-finger
OBO:HP_0009431	Bullet-shaped middle phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024367	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.	http://purl.obolibrary.org/obo/HP_0009431		Bullet-shaped middle bone of middle finger
OBO:HP_0009432	Curved middle phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024366	Curved appearance of the middle phalanx of the 3rd (middle) finger.	http://purl.obolibrary.org/obo/HP_0009432		Curved middle bone of the middle finger
OBO:HP_0009433	Osteolytic defects of the middle phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024365	Dissolution or degeneration of bone tissue of the middle phalanx of the 3rd finger.	http://purl.obolibrary.org/obo/HP_0009433		
OBO:HP_0009434	Patchy sclerosis of the middle phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024364	Uneven (irregular) increase in bone density of the middle phalanx of the third finger.	http://purl.obolibrary.org/obo/HP_0009434		Uneven increase in bone density in the middle bone of the middle finger
OBO:HP_0009435	Symphalangism of middle phalanx of 3rd finger	biolink:OntologyClass	hp	UMLS:C4024363	Fusion of the middle phalanx of the 3rd finger with another bone.	http://purl.obolibrary.org/obo/HP_0009435		Fused middle bone of middle finger
OBO:HP_0009436	Triangular shaped middle phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024362	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.	http://purl.obolibrary.org/obo/HP_0009436		Triangular shaped middle bone of the middle finger
OBO:HP_0009437	Aplasia/Hypoplasia of the middle phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024361		http://purl.obolibrary.org/obo/HP_0009437		Absent/small middle bone of the middle finger|Absent/underdeveloped middle bone of the middle finger
OBO:HP_0009438	Absent middle phalanx of 3rd finger	biolink:OntologyClass	hp	UMLS:C4021475	Absence of the middle phalanx of the middle (3rd) finger.	http://purl.obolibrary.org/obo/HP_0009438		Absent middle bone of middle finger|Absent middle phalanx of middle finger|Aplasia of the middle phalanx of the 3rd finger
OBO:HP_0009439	Short middle phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4021474	Hypoplasia (congenital reduction in size) of the middle phalanx of the third finger.	http://purl.obolibrary.org/obo/HP_0009439		Short middle bone of middle finger|Hypoplastic/small middle phalanx of the 3rd finger
OBO:HP_0009440	Broad phalanges of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4021473	Increased width of the phalanges of the 3rd finger.	http://purl.obolibrary.org/obo/HP_0009440		Wide bones of middle finger|Wide/broad middle finger phalanges
OBO:HP_0009441	Bullet-shaped phalanges of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024360	A third finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.	http://purl.obolibrary.org/obo/HP_0009441		Bullet-shaped bones of middle finger
OBO:HP_0009442	Curved phalanges of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024359	Curved appearance of the phalanges of the 3rd finger.	http://purl.obolibrary.org/obo/HP_0009442		Curved bones of middle finger
OBO:HP_0009443	Osteolytic defects of the phalanges of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4021472	Dissolution or degeneration of bone tissue of the phalanges of the 3rd finger.	http://purl.obolibrary.org/obo/HP_0009443		Lytic defects of middle finger phalanges
OBO:HP_0009444	Patchy sclerosis of 3rd finger phalanx	biolink:OntologyClass	hp	UMLS:C4021471	Uneven (irregular) increase in bone density of one or more of the phalanges of the third finger.	http://purl.obolibrary.org/obo/HP_0009444		Uneven increase in bone density in middle finger bone|Patchy sclerosis of middle finger phalanges|Patchy sclerosis of the phalanges of the 3rd finger
OBO:HP_0009445	Symphalangism of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024358	Fusion of two or more bones of the 3rd finger.	http://purl.obolibrary.org/obo/HP_0009445		Fused middle finger
OBO:HP_0009446	Triangular shaped phalanges of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024357	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.	http://purl.obolibrary.org/obo/HP_0009446		Triangular shaped bone of the middle finger
OBO:HP_0009447	Aplasia/Hypoplasia of the phalanges of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024356		http://purl.obolibrary.org/obo/HP_0009447		Absent/small middle finger bone|Absent/underdeveloped middle finger bone|Hypoplastic middle finger phalanges|Short middle finger phalanges|Small middle finger phalanges
OBO:HP_0009448	obsolete Aplasia of the phalanges of the 3rd finger	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0009448		
OBO:HP_0009449	obsolete Hypoplastic/small phalanges of the 3rd finger	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0009449		
OBO:HP_0009450	Broad proximal phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024355	Increased width of the proximal phalanx of the 3rd finger.	http://purl.obolibrary.org/obo/HP_0009450		Broad innermost bone of middle finger
OBO:HP_0009451	Bullet-shaped proximal phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024354	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.	http://purl.obolibrary.org/obo/HP_0009451		Bullet-shaped innermost bone of the middle finger
OBO:HP_0009452	Curved proximal phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024353	Curved appearance of the proximal phalanx of the 3rd finger.	http://purl.obolibrary.org/obo/HP_0009452		Curved innermost bone of middle finger
OBO:HP_0009453	Osteolytic defects of the proximal phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024352	Dissolution or degeneration of bone tissue of the proximal phalanx of the 3rd finger.	http://purl.obolibrary.org/obo/HP_0009453		
OBO:HP_0009454	Patchy sclerosis of the proximal phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024351	Uneven (irregular) increase in bone density of the proximal phalanx of the third finger.	http://purl.obolibrary.org/obo/HP_0009454		Uneven increase in bone density in the innermost bone of the middle finger
OBO:HP_0009455	Symphalangism affecting the proximal phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024350	Fusion of the proximal phalanx of the 3rd finger with another bone.	http://purl.obolibrary.org/obo/HP_0009455		Fused innermost bone of middle finger
OBO:HP_0009456	Triangular shaped proximal phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024349	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.	http://purl.obolibrary.org/obo/HP_0009456		Triangular shaped innermost bone of middle finger
OBO:HP_0009457	Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024348		http://purl.obolibrary.org/obo/HP_0009457		Absent/small innermost bone of middle finger|Absent/underdeveloped innermost bone of middle finger
OBO:HP_0009458	Aplasia of the proximal phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024347	Absence of the proximal phalanx of the 3rd finger.	http://purl.obolibrary.org/obo/HP_0009458		Absent innermost bone of middle finger
OBO:HP_0009459	Short proximal phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4021470	Hypoplasia (congenital reduction in size) of the proximal phalanx of the third finger.	http://purl.obolibrary.org/obo/HP_0009459		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
OBO:HP_0009460	Aplasia of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024346	Absent 3rd finger.	http://purl.obolibrary.org/obo/HP_0009460		Absent middle finger
OBO:HP_0009461	Short 3rd finger	biolink:OntologyClass	hp	UMLS:C4021469	Hypoplastic/small 3rd (middle) finger.	http://purl.obolibrary.org/obo/HP_0009461		Short 3rd finger|Short middle finger|Hypoplastic/small 3rd finger
OBO:HP_0009462	Radial deviation of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024345	Displacement of the 3rd finger towards the radial side (i.e., towards the thumb).	http://purl.obolibrary.org/obo/HP_0009462		Inward turned middle finger
OBO:HP_0009463	Ulnar deviation of the 3rd finger	biolink:OntologyClass	hp	UMLS:C3554614	Displacement of the 3rd finger towards the ulnar side (i.e., towards the ring finger).	http://purl.obolibrary.org/obo/HP_0009463		Ulnar deviation of middle fingers
OBO:HP_0009464	Ulnar deviation of the 2nd finger	biolink:OntologyClass	hp	UMLS:C1844891	Displacement of the 2nd (index) finger towards the ulnar side.	http://purl.obolibrary.org/obo/HP_0009464		Medially deviated index finger|Second finger ulnar deviation|Ulnar angulation of the index finger|Ulnar deviation of index fingers
OBO:HP_0009465	Ulnar deviation of finger	biolink:OntologyClass	hp	SNOMEDCT_US:276662009|SNOMEDCT_US:367510009|UMLS:C0231679	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.	http://purl.obolibrary.org/obo/HP_0009465	hposlim_core	Finger bends toward pinky|Ulnar Drift
OBO:HP_0009466	Radial deviation of finger	biolink:OntologyClass	hp	UMLS:C1836189	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.	http://purl.obolibrary.org/obo/HP_0009466	hposlim_core	Radially deviated fingers|Radially deviated phalanges
OBO:HP_0009467	Radial deviation of the 2nd finger	biolink:OntologyClass	hp	UMLS:C1844709	Displacement of the 2nd finger towards the radial side.	http://purl.obolibrary.org/obo/HP_0009467		Radially deviated index finger
OBO:HP_0009468	Deviation of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4021468	Displacement of the 2nd finger from its normal position.	http://purl.obolibrary.org/obo/HP_0009468		Displaced index finger|Deviated index finger
OBO:HP_0009469	Contracture of the distal interphalangeal joint of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024344	Chronic loss of joint motion of the distal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue.	http://purl.obolibrary.org/obo/HP_0009469		Contracture of the outermost hinge joint of the 3rd finger
OBO:HP_0009470	Contracture of the metacarpophalangeal joint of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024343	Chronic loss of joint motion of the metacarpophalangeal joint of the 3rd finger due to structural changes in non-bony tissue.	http://purl.obolibrary.org/obo/HP_0009470		
OBO:HP_0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4021467	Chronic loss of joint motion of the proximal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue.	http://purl.obolibrary.org/obo/HP_0009471		Camptodactyly of the 3rd finger|Camptodactyly of the third finger
OBO:HP_0009473	Joint contracture of the hand	biolink:OntologyClass	hp	MEDDRA:10010821|SNOMEDCT_US:86414002|UMLS:C0158113	Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue.	http://purl.obolibrary.org/obo/HP_0009473	hposlim_core	Contractures involving the hands|Contractures of the hands
OBO:HP_0009477	Proximal/middle symphalangism of 4th finger	biolink:OntologyClass	hp	UMLS:C4024342	Fusion of the proximal and middle phalanges of the 4th finger.	http://purl.obolibrary.org/obo/HP_0009477		Fused innermost and middle bone of fourth finger
OBO:HP_0009478	Symphalangism of the proximal phalanx of the 4th finger with the 4th metacarpal	biolink:OntologyClass	hp	UMLS:C4024341	Fusion of the proximal phalanx of the 4th finger with the 4th metacarpal.	http://purl.obolibrary.org/obo/HP_0009478		Fused innermost bone of ring finger with 4th long bone of hand
OBO:HP_0009482	Proximal/middle symphalangism of 3rd finger	biolink:OntologyClass	hp	UMLS:C4024340	Fusion of the proximal and middle phalanges of the 3rd finger.	http://purl.obolibrary.org/obo/HP_0009482		Fused of innermost and middle bones of middle finger
OBO:HP_0009483	Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metacarpal	biolink:OntologyClass	hp	UMLS:C4024339	Fusion of the proximal phalanx of the 3rd finger with the 3rd metacarpal.	http://purl.obolibrary.org/obo/HP_0009483		Fused innermost bones of middle finger with middle long bone of hand
OBO:HP_0009484	Deviation of the hand or of fingers of the hand	biolink:OntologyClass	hp	UMLS:C4024338	Displacement of the hand or of fingers of the hand from their normal position.	http://purl.obolibrary.org/obo/HP_0009484		Displaced hand or fingers of the hand
OBO:HP_0009485	Radial deviation of the hand or of fingers of the hand	biolink:OntologyClass	hp	UMLS:C4024337		http://purl.obolibrary.org/obo/HP_0009485		
OBO:HP_0009486	Radial deviation of the hand	biolink:OntologyClass	hp	SNOMEDCT_US:299035006|UMLS:C0575803	An abnormal position of the hand in which the wrist is bent toward the radius (i.e., toward the thumb).	http://purl.obolibrary.org/obo/HP_0009486	hposlim_core	Radial deviation of hands
OBO:HP_0009487	Ulnar deviation of the hand	biolink:OntologyClass	hp	SNOMEDCT_US:249757009|UMLS:C0241521	Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger).	http://purl.obolibrary.org/obo/HP_0009487	hposlim_core	Ulnar deviation of hands|Ulnar deviation of the hands
OBO:HP_0009488	Absent epiphyses of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024336	Absence of the epiphyses of the 2nd finger.	http://purl.obolibrary.org/obo/HP_0009488		Absent end part of index finger
OBO:HP_0009489	Bracket epiphyses of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4021466	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.	http://purl.obolibrary.org/obo/HP_0009489		Bracket shaped end part of index finger|Bracket-epiphyses of index finger
OBO:HP_0009490	Cone-shaped epiphyses of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024335	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.	http://purl.obolibrary.org/obo/HP_0009490		Cone-shaped end part of the index finger
OBO:HP_0009491	Enlarged epiphyses of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024334	Abnormally large size of the epiphyses of the 2nd finger with respect to age-dependent norms.	http://purl.obolibrary.org/obo/HP_0009491		Enlarged end part of the index finger
OBO:HP_0009492	Fragmentation of the epiphyses of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024333	Fragmented appearance of the epiphyses of the 2nd finger.	http://purl.obolibrary.org/obo/HP_0009492		Fragmentation of end part of the index finger
OBO:HP_0009493	Irregular epiphyses of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024332	Irregular radiographic opacity of the epiphyses of the 2nd finger.	http://purl.obolibrary.org/obo/HP_0009493		Irregular end part of the index finger
OBO:HP_0009494	Ivory epiphyses of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024331	Sclerosis of the epiphyses of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.	http://purl.obolibrary.org/obo/HP_0009494		Increased bone density of end part of the index finger bone
OBO:HP_0009495	Pseudoepiphyses of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4021465	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.	http://purl.obolibrary.org/obo/HP_0009495		Accessory index finger phalanges
OBO:HP_0009496	Small epiphyses of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024330	Abnormally small size of the epiphyses of the 2nd finger with respect to age-dependent norms.	http://purl.obolibrary.org/obo/HP_0009496		Small end part of the index finger
OBO:HP_0009497	Stippling of the epiphyses of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024329	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd finger.	http://purl.obolibrary.org/obo/HP_0009497		Speckled calcifications in end part of the index finger
OBO:HP_0009498	Triangular epiphyses of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024328	A triangular appearance of the epiphyses of the 2nd finger of the hand.	http://purl.obolibrary.org/obo/HP_0009498		Triangular end part of the index finger
OBO:HP_0009499	Abnormality of the epiphysis of the distal phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4021464		http://purl.obolibrary.org/obo/HP_0009499		Abnormality of the end part of the outermost bone of the index finger|Epiphyseal abnormality of terminal index finger phalanx
OBO:HP_0009500	Abnormality of the epiphysis of the middle phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4021463		http://purl.obolibrary.org/obo/HP_0009500		Abnormality of end part of the middle bone of the index finger|Epiphyseal abnormality of middle phalanx of the 2nd finger
OBO:HP_0009501	Abnormality of the epiphysis of the proximal phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4021462		http://purl.obolibrary.org/obo/HP_0009501		Epiphyseal abnormality of the proximal phalanx of the 2nd finger
OBO:HP_0009502	Absent epiphysis of the distal phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4021461	Absence of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger.	http://purl.obolibrary.org/obo/HP_0009502		Absent end part of the outermost bone of the index finger|Absent ossification/absent epiphysis of terminal index finger phalanx
OBO:HP_0009503	Bracket epiphysis of the distal phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024327	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.	http://purl.obolibrary.org/obo/HP_0009503		Bracket shaped end part of the outermost bone of the index finger
OBO:HP_0009504	Cone-shaped epiphysis of the distal phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024326	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.	http://purl.obolibrary.org/obo/HP_0009504		Cone-shaped end part of the outermost bone of the index finger
OBO:HP_0009505	Enlarged epiphysis of the distal phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024325	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.	http://purl.obolibrary.org/obo/HP_0009505		Enlarged end part of the outermost bone of the index finger
OBO:HP_0009506	Fragmentation of the epiphysis of the distal phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024324	Fragmented appearance of the epiphysis of the distal phalanx of the 2nd finger.	http://purl.obolibrary.org/obo/HP_0009506		Fragmentation of end part of the outermost bone of the index finger
OBO:HP_0009507	Irregular epiphysis of the distal phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024323	Irregular radiographic opacity of the epiphysis of the distal phalanx of the 2nd finger.	http://purl.obolibrary.org/obo/HP_0009507		Irregular end part of the outermost bone of the index finger
OBO:HP_0009508	Ivory epiphysis of the distal phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4021460	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.	http://purl.obolibrary.org/obo/HP_0009508		Increased bone density of end part of the outermost bone of the index finger|Ivory epiphysis of terminal index finger phalanx
OBO:HP_0009509	Pseudoepiphysis of the distal phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024322	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.	http://purl.obolibrary.org/obo/HP_0009509		
OBO:HP_0009510	Small epiphysis of the distal phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024321	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.	http://purl.obolibrary.org/obo/HP_0009510		Small end part of the outermost bone of the index finger
OBO:HP_0009511	Stippling of the epiphysis of the distal phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024320	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd finger.	http://purl.obolibrary.org/obo/HP_0009511		Speckled calcifications in end part of the outermost bone of the index finger
OBO:HP_0009512	Triangular epiphysis of the distal phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024319	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.	http://purl.obolibrary.org/obo/HP_0009512		Triangular end part of the outermost bone of the index finger
OBO:HP_0009513	Absent epiphysis of the middle phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4021459		http://purl.obolibrary.org/obo/HP_0009513		Missing end part of the middle long bone of the index finger|Absent epiphyses of middle phalanx of index finger
OBO:HP_0009514	Bracket epiphysis of the middle phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024318	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.	http://purl.obolibrary.org/obo/HP_0009514		Bracket shaped end part of the middle long bone of the index finger
OBO:HP_0009515	Cone-shaped epiphysis of the middle phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4021458		http://purl.obolibrary.org/obo/HP_0009515		Cone-shaped end part of the middle long bone of the index finger|Cone-shaped epiphyses of middle phalanx of index finger
OBO:HP_0009516	Enlarged epiphysis of the middle phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024317		http://purl.obolibrary.org/obo/HP_0009516		Enlarged end part of the middle bone of the index finger
OBO:HP_0009517	Fragmentation of the epiphysis of the middle phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024316		http://purl.obolibrary.org/obo/HP_0009517		Fragmentation of end part of the middle long bone of the index finger
OBO:HP_0009518	Irregular epiphysis of the middle phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024315		http://purl.obolibrary.org/obo/HP_0009518		Irregular end part of the middle long bone of the index finger
OBO:HP_0009519	Ivory epiphysis of the middle phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024314		http://purl.obolibrary.org/obo/HP_0009519		Increased bone density of end part of the middle bone of the index finger
OBO:HP_0009520	Pseudoepiphysis of the middle phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024313	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.	http://purl.obolibrary.org/obo/HP_0009520		
OBO:HP_0009521	Small epiphysis of the middle phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024312		http://purl.obolibrary.org/obo/HP_0009521		Small end part of the innermost long bone of index finger
OBO:HP_0009522	Stippling of the epiphysis of the middle phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024311		http://purl.obolibrary.org/obo/HP_0009522		Speckled calcifications in end part of the middle bone of the index finger
OBO:HP_0009523	Triangular epiphysis of the middle phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024310		http://purl.obolibrary.org/obo/HP_0009523		Triangular end part of the middle bone of the index finger
OBO:HP_0009524	Absent epiphysis of the proximal phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024309		http://purl.obolibrary.org/obo/HP_0009524		Absent end part of innermost long bone of index finger
OBO:HP_0009525	Bracket epiphysis of the proximal phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4021457	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.	http://purl.obolibrary.org/obo/HP_0009525		Bracket shaped end part of innermost long bone of index finger|Bracket epiphyses of proximal index finger phalanx
OBO:HP_0009526	Cone-shaped epiphysis of the proximal phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4021456		http://purl.obolibrary.org/obo/HP_0009526		Cone-shaped end part of innermost long bone of index finger|Cone-shaped epiphysis of proximal index finger phalanx
OBO:HP_0009527	Enlarged epiphysis of the proximal phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4021455		http://purl.obolibrary.org/obo/HP_0009527		Enlarged end part of innermost long bone of index finger|Large epiphysis of proximal index finger phalanx
OBO:HP_0009528	Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024308		http://purl.obolibrary.org/obo/HP_0009528		Fragmentation of end part of innermost long bone of index finger
OBO:HP_0009529	Irregular epiphysis of the proximal phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024307		http://purl.obolibrary.org/obo/HP_0009529		Irregular end part of innermost long bone of index finger
OBO:HP_0009530	Ivory epiphysis of the proximal phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024306		http://purl.obolibrary.org/obo/HP_0009530		Increased bone density of end part of the innermost bone of the index finger
OBO:HP_0009531	Pseudoepiphysis of the proximal phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024305	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.	http://purl.obolibrary.org/obo/HP_0009531		
OBO:HP_0009532	Small epiphysis of the proximal phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024304		http://purl.obolibrary.org/obo/HP_0009532		Small end part of proximal long bond of index finger
OBO:HP_0009533	Stippling of the epiphysis of the proximal phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024303		http://purl.obolibrary.org/obo/HP_0009533		Speckled calcifications in end part of the innermost long bone of index finger
OBO:HP_0009534	Triangular epiphysis of the proximal phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4021454		http://purl.obolibrary.org/obo/HP_0009534		Triangular end part of innermost long bone of index finger|Triangular epiphysis of proximal index finger phalanx
OBO:HP_0009535	Aplasia of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4021453	Absent 2nd (index) finger.	http://purl.obolibrary.org/obo/HP_0009535		Absent index finger|Absent index finger phalanges|Aplasia of the index finger
OBO:HP_0009536	Short 2nd finger	biolink:OntologyClass	hp	UMLS:C1862142	Hypoplasia of the second finger, also known as the index finger.	http://purl.obolibrary.org/obo/HP_0009536		Short index finger|Short index fingers|Hypoplastic index finger phalanges|Hypoplastic/small index finger|Short index finger phalanges
OBO:HP_0009537	Flexion contracture of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4021452	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.	http://purl.obolibrary.org/obo/HP_0009537		Joint contractures of the 2nd finger
OBO:HP_0009538	Contracture of the distal interphalangeal joint of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024302	Chronic loss of joint motion of the distal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue.	http://purl.obolibrary.org/obo/HP_0009538		
OBO:HP_0009539	Contracture of the metacarpophalangeal joint of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024301	Chronic loss of joint motion of the metacarpophalangeal joint of the 2nd finger due to structural changes in non-bony tissue.	http://purl.obolibrary.org/obo/HP_0009539		
OBO:HP_0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4021451	Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue.	http://purl.obolibrary.org/obo/HP_0009540		Camptodactyly of 2nd finger|Camptodactyly of index finger|Camptodactyly of second finger
OBO:HP_0009541	Abnormality of the phalanges of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4021450	Abnormality of the phalanges of the 2nd (index) finger.	http://purl.obolibrary.org/obo/HP_0009541		Abnormal index finger bones|Abnormality of 2nd finger phalanges
OBO:HP_0009542	Abnormality of the distal phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4021449		http://purl.obolibrary.org/obo/HP_0009542		Abnormality of the outermost bone of the 2nd finger|Abnormality of terminal index finger phalanx
OBO:HP_0009543	Abnormality of the middle phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4021448		http://purl.obolibrary.org/obo/HP_0009543		Abnormal middle index finger bone|Abnormality of middle 2nd finger phalanx
OBO:HP_0009544	Abnormality of the proximal phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4021447		http://purl.obolibrary.org/obo/HP_0009544		Abnormal innermost index finger bone|Abnormality of the proximal 2nd finger phalanx
OBO:HP_0009545	Symphalangism of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4021446		http://purl.obolibrary.org/obo/HP_0009545		Fused index finger bones|Symphalangism of index finger phalanges
OBO:HP_0009546	Triangular shaped phalanges of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4021445	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.	http://purl.obolibrary.org/obo/HP_0009546		Triangular bones of index finger|Triangular index finger phalanges
OBO:HP_0009547	Broad phalanges of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4021444		http://purl.obolibrary.org/obo/HP_0009547		Wide index finger bones|Wide/broad index finger phalanges
OBO:HP_0009548	Bullet-shaped phalanges of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024300	A second finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.	http://purl.obolibrary.org/obo/HP_0009548		Bullet-shaped index finger bones
OBO:HP_0009549	Curved phalanges of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024299		http://purl.obolibrary.org/obo/HP_0009549		Curved index finger bones
OBO:HP_0009550	Osteolytic defects of the phalanges of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4021443		http://purl.obolibrary.org/obo/HP_0009550		Lytic defect in index finger phalanges
OBO:HP_0009551	Patchy sclerosis of 2nd finger phalanx	biolink:OntologyClass	hp	UMLS:C4021442	Uneven (irregular) increase in bone density of one or more of the phalanges of the 2nd finger.	http://purl.obolibrary.org/obo/HP_0009551		Uneven increase in bone density in index finger bone|Patchy sclerosis of the phalanges of the 2nd finger
OBO:HP_0009552	Aplasia/Hypoplasia of the phalanges of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024298		http://purl.obolibrary.org/obo/HP_0009552		Absent/small index finger bone|Absent/underdeveloped index finger bone
OBO:HP_0009553	Abnormality of the hairline	biolink:OntologyClass	hp	UMLS:C4024297	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.	http://purl.obolibrary.org/obo/HP_0009553		Abnormality of the hairline
OBO:HP_0009554	Preauricular hair displacement	biolink:OntologyClass	hp	UMLS:C4024296	An tongue-like extension of hair towards the cheeks, in which hair growth extends in front of the ear to the lateral cheekbones.	http://purl.obolibrary.org/obo/HP_0009554		Hair growing down to cheek|Projection of scalp hair onto lateral cheek|Hair displacement, preauricular, towards lateral cheekbone
OBO:HP_0009555	Hypoplasia of the pharynx	biolink:OntologyClass	hp	UMLS:C4024295|UMLS:C4280396|UMLS:C4280397|UMLS:C4280398|UMLS:C4280399|UMLS:C4280400	Underdevelopment of the pharynx.	http://purl.obolibrary.org/obo/HP_0009555		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
OBO:HP_0009556	Absent tibia	biolink:OntologyClass	hp	UMLS:C3276744	Absence of the tibia.	http://purl.obolibrary.org/obo/HP_0009556	hposlim_core	Absent shankbone|Absent shinbone|Aplasia of the tibia
OBO:HP_0009557	Aplasia/Hypoplasia of the distal phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024294		http://purl.obolibrary.org/obo/HP_0009557		Absent/small outermost index finger bone|Absent/underdeveloped outermost index finger bone
OBO:HP_0009558	Broad distal phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024293	Increased width of the distal phalanx of the 2nd finger.	http://purl.obolibrary.org/obo/HP_0009558		Wide outermost bone of the index finger
OBO:HP_0009559	Bullet-shaped distal phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024292	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.	http://purl.obolibrary.org/obo/HP_0009559		Bullet-shaped outermost bone of the index finger
OBO:HP_0009560	Curved distal phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024291	Curved appearance of the distal phalanx of the 2nd finger.	http://purl.obolibrary.org/obo/HP_0009560		Curved outermost bone of the index finger
OBO:HP_0009561	Osteolytic defects of the distal phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4021441	Dissolution or degeneration of bone tissue of the distal phalanx of the 2nd finger.	http://purl.obolibrary.org/obo/HP_0009561		Acro-osteolysis of index finger|Acro-osteolysis of terminal index finger phalanx|Osteolytic defects of the outermost bone of the 2nd finger
OBO:HP_0009562	Patchy sclerosis of the distal phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024290	Uneven (irregular) increase in bone density of the distal phalanx of the second finger.	http://purl.obolibrary.org/obo/HP_0009562		Uneven increase in bone density in the outermost bone of the 2nd finger
OBO:HP_0009563	Distal/middle symphalangism of 2nd finger	biolink:OntologyClass	hp	UMLS:C4021440	Fusion of the terminal/distal and middle phalanges of the 2nd finger.	http://purl.obolibrary.org/obo/HP_0009563		Fused outermost and middle index finger bones|Symphalangism of the distal and middle phalanges of the 2nd finger
OBO:HP_0009564	Triangular shaped distal phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024289	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.	http://purl.obolibrary.org/obo/HP_0009564		Triangular shaped outermost bone of the 2nd finger
OBO:HP_0009565	Aplasia of the distal phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4021439		http://purl.obolibrary.org/obo/HP_0009565		Absent outermost index finger bone|Absent terminal index finger phalanx
OBO:HP_0009566	Short distal phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4021438	Hypoplasia (congenital reduction in size) of the distal phalanx of the second finger.	http://purl.obolibrary.org/obo/HP_0009566		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
OBO:HP_0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C1862144		http://purl.obolibrary.org/obo/HP_0009568		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
OBO:HP_0009569	Broad middle phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024288	Increased width of the middle phalanx of the second finger.	http://purl.obolibrary.org/obo/HP_0009569		Broad middle bone of the index finger
OBO:HP_0009570	Bullet-shaped middle phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024287	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.	http://purl.obolibrary.org/obo/HP_0009570		Bullet-shaped middle bone of index finger
OBO:HP_0009571	Curved middle phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024286	Curved appearance of the middle phalanx of the 2nd finger.	http://purl.obolibrary.org/obo/HP_0009571		Curved middle bone of the index finger
OBO:HP_0009572	Osteolytic defects of the middle phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4021437	Dissolution or degeneration of bone tissue of the middle phalanx of the 2nd finger.	http://purl.obolibrary.org/obo/HP_0009572		Lytic defects of middle index finger phalanx
OBO:HP_0009573	Patchy sclerosis of the middle phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024285	Uneven (irregular) increase in bone density of the middle phalanx of the second finger.	http://purl.obolibrary.org/obo/HP_0009573		Uneven increase in bone density in the middle bone of the index finger
OBO:HP_0009574	Symphalangism of middle phalanx of 2nd finger	biolink:OntologyClass	hp	UMLS:C4024284	Fusion of the middle phalanx of the 2nd finger with another bone.	http://purl.obolibrary.org/obo/HP_0009574		Fused middle bone of index finger
OBO:HP_0009575	Triangular shaped middle phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024283	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.	http://purl.obolibrary.org/obo/HP_0009575		Triangular shaped middle bone of index finger
OBO:HP_0009576	Absent middle phalanx of 2nd finger	biolink:OntologyClass	hp	UMLS:C4021436	Absence of the middle phalanx of the index (2nd) finger.	http://purl.obolibrary.org/obo/HP_0009576		Absent middle bone of index finger|Absent middle phalanx of index finger|Aplasia of the middle phalanx of the 2nd finger
OBO:HP_0009577	Short middle phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4021435	Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger.	http://purl.obolibrary.org/obo/HP_0009577		Short middle bone of index finger|Hypoplastic middle index finger phalanx|Hypoplastic/small middle phalanx of the 2nd finger
OBO:HP_0009579	Proximal/middle symphalangism of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024282	Fusion of the proximal and middle phalanges of the 2nd finger.	http://purl.obolibrary.org/obo/HP_0009579		Fused innermost and middle index finger bones
OBO:HP_0009580	Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024281		http://purl.obolibrary.org/obo/HP_0009580		Absent/small innermost index finger bone|Absent/underdeveloped innermost index finger bone
OBO:HP_0009581	Broad proximal phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4021434	Increased width of the proximal phalanx of the 2nd finger.	http://purl.obolibrary.org/obo/HP_0009581		Wide innermost bone of index finger|Wide/broad proximal index finger phalanx
OBO:HP_0009582	Bullet-shaped proximal phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024280	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.	http://purl.obolibrary.org/obo/HP_0009582		Bullet-shaped innermost bone of index finger
OBO:HP_0009583	Curved proximal phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024279	Curved appearance of the proximal phalanx of the 2nd finger.	http://purl.obolibrary.org/obo/HP_0009583		Curved innermost bone of index finger
OBO:HP_0009584	Osteolytic defects of the proximal phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4021433	Dissolution or degeneration of bone tissue of the proximal phalanx of the 2nd finger.	http://purl.obolibrary.org/obo/HP_0009584		Lytic defects of proximal index finger phalanx
OBO:HP_0009585	Patchy sclerosis of the proximal phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024278	Uneven (irregular) increase in bone density of the proximal phalanx of the second finger.	http://purl.obolibrary.org/obo/HP_0009585		Uneven increase in bone density in innermost index finger bone
OBO:HP_0009586	Symphalangism affecting the proximal phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024277	Fusion of the proximal phalanx of the 2nd finger with another bone.	http://purl.obolibrary.org/obo/HP_0009586		Fused innermost bone of index finger
OBO:HP_0009587	Triangular shaped proximal phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4021432	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.	http://purl.obolibrary.org/obo/HP_0009587		Triangular shaped innermost bone of index finger|Triangular proximal index finger phalanx
OBO:HP_0009588	Vestibular Schwannoma	biolink:OntologyClass	hp	MSH:D009464|NCIT:C3269|SNOMEDCT_US:126949007|SNOMEDCT_US:985004|UMLS:C0027859	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.	http://purl.obolibrary.org/obo/HP_0009588	hposlim_core	Acoustic Neuroma|Vestibular Schwann cell tumor|Vestibular neurilemmoma|Vestibular neurinoma|Vestibular neurolemmoma
OBO:HP_0009589	Bilateral vestibular Schwannoma	biolink:OntologyClass	hp	MSH:D016518|UMLS:C1136042	A bilateral vestibular Schwannoma (acoustic neurinoma).	http://purl.obolibrary.org/obo/HP_0009589		Bilateral acoustic neuromas
OBO:HP_0009590	Unilateral vestibular Schwannoma	biolink:OntologyClass	hp	UMLS:C1863653	A unilateral vestibular Schwannoma (acoustic neurinoma).	http://purl.obolibrary.org/obo/HP_0009590		
OBO:HP_0009591	Abnormality of the vestibulocochlear nerve	biolink:OntologyClass	hp	UMLS:C4021431	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.	http://purl.obolibrary.org/obo/HP_0009591		Abnormality of the VIIIth cranial nerve|Abnormality of the eighth cranial nerve
OBO:HP_0009592	Astrocytoma	biolink:OntologyClass	hp	MSH:D001254|SNOMEDCT_US:38713004|UMLS:C0004114	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.	http://purl.obolibrary.org/obo/HP_0009592		
OBO:HP_0009593	Peripheral Schwannoma	biolink:OntologyClass	hp	UMLS:C4024276	The presence of a peripheral schwannoma.	http://purl.obolibrary.org/obo/HP_0009593		
OBO:HP_0009594	Retinal hamartoma	biolink:OntologyClass	hp	UMLS:C1863411	A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina.	http://purl.obolibrary.org/obo/HP_0009594		
OBO:HP_0009595	Occasional neurofibromas	biolink:OntologyClass	hp	UMLS:C3810474	Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1.	http://purl.obolibrary.org/obo/HP_0009595		
OBO:HP_0009596	Aplasia of the proximal phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024275	Absence of the proximal phalanx of the 2nd finger.	http://purl.obolibrary.org/obo/HP_0009596		Absent innermost bone of index finger
OBO:HP_0009597	Short proximal phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4021430	Hypoplasia (congenital reduction in size) of the proximal phalanx of the second finger.	http://purl.obolibrary.org/obo/HP_0009597		Hypoplastic/small proximal phalanx of the 2nd finger|Short proximal index finger phalanx|Short proximal phalanx of the second finger
OBO:HP_0009598	Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal	biolink:OntologyClass	hp	UMLS:C4024274	Fusion of the proximal phalanx of the 2nd finger with the 2nd metacarpal.	http://purl.obolibrary.org/obo/HP_0009598		Fused innermost bone of index finger with 2nd long bone of hand
OBO:HP_0009599	Abnormality of thumb epiphysis	biolink:OntologyClass	hp	UMLS:C4021429	Abnormality of one or all of the epiphyses of the proximal, and distal phalanges of the thumb and/or the 1st metacarpal.	http://purl.obolibrary.org/obo/HP_0009599		Abnormality of end part of thumb long bone|Abnormality of the epiphyses of the thumb|Abnormality of thumb epiphyses
OBO:HP_0009600	Flexion contracture of thumb	biolink:OntologyClass	hp	SNOMEDCT_US:239736003|UMLS:C0409346	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.	http://purl.obolibrary.org/obo/HP_0009600		Contracture of thumb|Flexion deformities of thumbs|Joint contractures of the thumb
OBO:HP_0009601	Aplasia/Hypoplasia of the thumb	biolink:OntologyClass	hp	MSH:C536903|UMLS:C3179508	Hypoplastic/small or absent thumb.	http://purl.obolibrary.org/obo/HP_0009601		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
OBO:HP_0009602	Abnormality of thumb phalanx	biolink:OntologyClass	hp	UMLS:C4021428	A structural anomaly of one or more phalanges of the thumb.	http://purl.obolibrary.org/obo/HP_0009602		Abnormality of the thumb bones|Abnormality of thumb phalanges
OBO:HP_0009603	Deviation of the thumb	biolink:OntologyClass	hp	UMLS:C3552414	Displacement of the thumb from its normal position.	http://purl.obolibrary.org/obo/HP_0009603		Abnormal thumb placement|Deviated thumb|Displacement of the thumb
OBO:HP_0009606	Complete duplication of distal phalanx of the thumb	biolink:OntologyClass	hp	UMLS:C4021427	Complete duplication of the distal phalanx of the thumb. On x-ray two separate bones appear side to side.	http://purl.obolibrary.org/obo/HP_0009606		Complete duplication of outermost bone of the thumb
OBO:HP_0009608	Complete duplication of proximal phalanx of the thumb	biolink:OntologyClass	hp	UMLS:C4024273	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.	http://purl.obolibrary.org/obo/HP_0009608		Complete duplication of the innermost bone of the thumb
OBO:HP_0009609	Duplication of the 1st metacarpal	biolink:OntologyClass	hp	UMLS:C4021426	Partail or complete duplication of the first metacarpal bone.	http://purl.obolibrary.org/obo/HP_0009609		Partial/complete duplication of the 1st long bone of hand|Partial/complete duplication of the 1st metacarpal
OBO:HP_0009611	Bifid distal phalanx of the thumb	biolink:OntologyClass	hp	UMLS:C1860162	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.	http://purl.obolibrary.org/obo/HP_0009611		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
OBO:HP_0009612	Duplication of the distal phalanx of the thumb	biolink:OntologyClass	hp	UMLS:C4021425	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.	http://purl.obolibrary.org/obo/HP_0009612		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
OBO:HP_0009613	Duplication of the proximal phalanx of the thumb	biolink:OntologyClass	hp	UMLS:C4021424	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.	http://purl.obolibrary.org/obo/HP_0009613		Notched innermost bone of thumb|Partial/complete duplication of the proximal phalanx of the thumb
OBO:HP_0009614	Bifid proximal phalanx of the thumb	biolink:OntologyClass	hp	UMLS:C4024272	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.	http://purl.obolibrary.org/obo/HP_0009614		Notched thumb bone
OBO:HP_0009615	Complete duplication of the first metacarpal	biolink:OntologyClass	hp	UMLS:C4024271	Complete duplication of the first metacarpal bone.	http://purl.obolibrary.org/obo/HP_0009615		Complete duplication of the first long bone of hand
OBO:HP_0009616	Bifid first metacarpal	biolink:OntologyClass	hp	UMLS:C4021423	Partial duplication of the first metacarpal bone.	http://purl.obolibrary.org/obo/HP_0009616		Notched first long bone of hand|partial duplication of the first metacarpal
OBO:HP_0009617	Abnormality of the distal phalanx of the thumb	biolink:OntologyClass	hp	UMLS:C4021422	Any anomaly of the distal phalanx of thumb.	http://purl.obolibrary.org/obo/HP_0009617		Abnormality of the outermost bone of the thumb|Abnormality of terminal thumb phalanx
OBO:HP_0009618	Abnormality of the proximal phalanx of the thumb	biolink:OntologyClass	hp	UMLS:C4021421	An anomaly of the shape or form of the proximal phalanx of the thumb.	http://purl.obolibrary.org/obo/HP_0009618		Abnormal innermost thumb bone|Abnormality of proximal thumb phalanx
OBO:HP_0009620	obsolete Radial deviation of the thumb	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0009620		
OBO:HP_0009621	obsolete Ulnar deviation of the thumb	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0009621		
OBO:HP_0009622	Distally placed thumb	biolink:OntologyClass	hp	UMLS:C4024270	Insertion of thumb at a more distal location than normal.	http://purl.obolibrary.org/obo/HP_0009622		
OBO:HP_0009623	Proximal placement of thumb	biolink:OntologyClass	hp	UMLS:C1865572	Proximal mislocalization of the thumb.	http://purl.obolibrary.org/obo/HP_0009623	hposlim_core	Attachment of thumb close to wrist|Low implantation of the thumb|Low-set thumb|Proximally placed thumbs
OBO:HP_0009624	Contractures of the carpometacarpal joint of the thumb	biolink:OntologyClass	hp	UMLS:C4024269	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.	http://purl.obolibrary.org/obo/HP_0009624		
OBO:HP_0009625	Contractures of the metacarpophalangeal joint of the thumb	biolink:OntologyClass	hp	UMLS:C2108151	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.	http://purl.obolibrary.org/obo/HP_0009625		
OBO:HP_0009626	Contractures of the interphalangeal joint of the thumb	biolink:OntologyClass	hp	UMLS:C2108146	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.	http://purl.obolibrary.org/obo/HP_0009626		Interphalangeal extension contractures of thumbs
OBO:HP_0009629	Aplasia/Hypoplasia of the proximal phalanx of the thumb	biolink:OntologyClass	hp	UMLS:C4024268	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.	http://purl.obolibrary.org/obo/HP_0009629		Absent/small innermost thumb bone|Absent/underdeveloped innermost thumb bone
OBO:HP_0009630	Broad proximal phalanx of the thumb	biolink:OntologyClass	hp	UMLS:C4024267	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.	http://purl.obolibrary.org/obo/HP_0009630		Broad innermost thumb bone
OBO:HP_0009631	Bullet-shaped proximal phalanx of the thumb	biolink:OntologyClass	hp	UMLS:C4024266	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.	http://purl.obolibrary.org/obo/HP_0009631		Bullet-shaped innermost thumb bone
OBO:HP_0009632	Curved proximal phalanx of the thumb	biolink:OntologyClass	hp	UMLS:C4024265	A deviation from the normal straight shape of the proximal phalanx of the thumb.	http://purl.obolibrary.org/obo/HP_0009632		Curved innermost thumb bone
OBO:HP_0009633	Osteolytic defect of the proximal phalanx of the thumb	biolink:OntologyClass	hp	UMLS:C4021420	Dissolution or degeneration of bone tissue of the proximal phalanx of the thumb.	http://purl.obolibrary.org/obo/HP_0009633		Osteolytic defects of the proximal phalanx of the thumb
OBO:HP_0009634	Patchy sclerosis of the proximal phalanx of the thumb	biolink:OntologyClass	hp	UMLS:C4024264	An uneven increase in bone density of the proximal phalanx of the thumb.	http://purl.obolibrary.org/obo/HP_0009634		Uneven increase in bone density in the innermost thumb bone
OBO:HP_0009635	Synostosis of thumb phalanx	biolink:OntologyClass	hp	UMLS:C4024263	Fusion of a phalanx of the thumb with another bone.	http://purl.obolibrary.org/obo/HP_0009635		Fusion of thumb bone
OBO:HP_0009636	Triangular shaped proximal phalanx of the thumb	biolink:OntologyClass	hp	UMLS:C4021419	Triangular shaped proximal phalanx of the thumb.	http://purl.obolibrary.org/obo/HP_0009636		Triangular innermost thumb bone|Triangular proximal thumb phalanx
OBO:HP_0009637	Absent proximal phalanx of thumb	biolink:OntologyClass	hp	UMLS:C4021418	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.	http://purl.obolibrary.org/obo/HP_0009637		Absent innermost thumb bone|Absent ossification/absent proximal thumb phalanx|Aplasia of the proximal phalanx of the thumb
OBO:HP_0009638	Short proximal phalanx of thumb	biolink:OntologyClass	hp	UMLS:C1855091	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.	http://purl.obolibrary.org/obo/HP_0009638		Hypoplastic/small proximal phalanx of the thumb|Short proximal phalanges of thumb|Short proximal thumb bone|Short proximal thumb phalanx
OBO:HP_0009640	Synostosis of the proximal phalanx of the thumb with the 1st metacarpal	biolink:OntologyClass	hp	UMLS:C4024262	Fusion of the proximal phalanx of the thumb with the 1st metacarpal.	http://purl.obolibrary.org/obo/HP_0009640		Fusion of the innermost bone of the thumb with the 1st long bone of hand
OBO:HP_0009641	Aplasia/Hypoplasia of the distal phalanx of the thumb	biolink:OntologyClass	hp	UMLS:C4024261		http://purl.obolibrary.org/obo/HP_0009641		Absent/small outermost thumb bone|Absent/underdeveloped outermost thumb bone
OBO:HP_0009642	Broad distal phalanx of the thumb	biolink:OntologyClass	hp	UMLS:C1863402	Increased width of the distal phalanx of thumb.	http://purl.obolibrary.org/obo/HP_0009642		Broad outermost bone of the thumb|Wide outermost bone of thumb|Broad terminal thumb phalanx|Wide distal phalanx of thumb
OBO:HP_0009643	Bullet-shaped distal phalanx of the thumb	biolink:OntologyClass	hp	UMLS:C4024260	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.	http://purl.obolibrary.org/obo/HP_0009643		Bullet-shaped outermost bone of the thumb
OBO:HP_0009644	Curved distal phalanx of the thumb	biolink:OntologyClass	hp	UMLS:C4024259	A deviation from the normal straight shape of the distal phalanx of the thumb.	http://purl.obolibrary.org/obo/HP_0009644		Curved outermost bone of the thumb
OBO:HP_0009645	Osteolytic defect of the distal phalanx of the thumb	biolink:OntologyClass	hp	UMLS:C4021417	Dissolution or degeneration of bone tissue of the distal phalanx of the thumb.	http://purl.obolibrary.org/obo/HP_0009645		Osteolytic defects of the distal phalanx of the thumb|Osteolytic defects of the outermost bone of the thumb
OBO:HP_0009646	Patchy sclerosis of the distal phalanx of the thumb	biolink:OntologyClass	hp	UMLS:C4024258	An uneven increase in bone density of the distal phalanx of the thumb.	http://purl.obolibrary.org/obo/HP_0009646		Uneven increase in bone density in the outermost bone of the thumb
OBO:HP_0009648	Triangular shaped distal phalanx of the thumb	biolink:OntologyClass	hp	UMLS:C4024257	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.	http://purl.obolibrary.org/obo/HP_0009648		Triangular shaped outermost bone of the thumb
OBO:HP_0009649	Aplasia of the distal phalanx of the thumb	biolink:OntologyClass	hp	UMLS:C4021416	Absence of the distal/terminal phalanx of the thumb.	http://purl.obolibrary.org/obo/HP_0009649		Absence of the outermost bone of the thumb|Absent ossification/absent terminal thumb phalanx|Aplasia of the outermost bone of the thumb
OBO:HP_0009650	Short distal phalanx of the thumb	biolink:OntologyClass	hp	UMLS:C1862313	Hypoplastic (short) distal phalanx of the thumb.	http://purl.obolibrary.org/obo/HP_0009650		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
OBO:HP_0009652	Bullet-shaped thumb phalanx	biolink:OntologyClass	hp	UMLS:C4021415	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.	http://purl.obolibrary.org/obo/HP_0009652		Bullet-shaped thumb bone|Bullet-shaped phalanges of the thumb
OBO:HP_0009653	Curved thumb phalanx	biolink:OntologyClass	hp	UMLS:C4021414	A deviation from the normal straight shape of a thumb phalanx.	http://purl.obolibrary.org/obo/HP_0009653		Curved thumb bone|Curved phalanges of the thumb
OBO:HP_0009654	Osteolytic defect of thumb phalanx	biolink:OntologyClass	hp	UMLS:C4020905	Dissolution or degeneration of bone tissue of one or more phalanges of the thumb.	http://purl.obolibrary.org/obo/HP_0009654		Osteolytic defects of the phalanges of the thumb
OBO:HP_0009655	Patchy sclerosis of thumb phalanx	biolink:OntologyClass	hp	UMLS:C4021413	An uneven increase in bone density of one or more of the phalanges of the thumb.	http://purl.obolibrary.org/obo/HP_0009655		Uneven increase in bone density in thumb bone|Patchy sclerosis of the phalanges of the thumb
OBO:HP_0009656	Symphalangism of the thumb	biolink:OntologyClass	hp	UMLS:C1834032	Congenital fusion (ankylosis) of the interphalangeal joint of the thumb.	http://purl.obolibrary.org/obo/HP_0009656		Fused thumb bones|Fused thumb phalanges|Symphalangism of the distal and proximal phalanges of the thumb
OBO:HP_0009657	Triangular shaped thumb phalanx	biolink:OntologyClass	hp	UMLS:C4021412	Abnormal shape of one or more phalanges of the thumb such that affected phalanges resemble a triangle.	http://purl.obolibrary.org/obo/HP_0009657		Triangular shaped thumb bone|Triangular shaped phalanges of the thumb|Triangular thumb phalanges
OBO:HP_0009658	Aplasia/Hypoplasia of the phalanges of the thumb	biolink:OntologyClass	hp	UMLS:C4024256		http://purl.obolibrary.org/obo/HP_0009658		Absent/small thumb bones|Absent/underdeveloped thumb bones
OBO:HP_0009659	Partial absence of thumb	biolink:OntologyClass	hp	UMLS:C4020780|UMLS:C4024255	The absence of a phalangeal segment of a thumb.	http://purl.obolibrary.org/obo/HP_0009659		Partial absence of thumb|Aplasia of the phalanges of the thumb
OBO:HP_0009660	Short phalanx of the thumb	biolink:OntologyClass	hp	UMLS:C4021411	Hypoplastic (short) thumb phalanx.	http://purl.obolibrary.org/obo/HP_0009660		Short thumb bone|Hypoplastic thumb phalanges|Hypoplastic/small phalanges of the thumb|Short thumb phalanges
OBO:HP_0009662	Abnormality of the epiphysis of the distal phalanx of the thumb	biolink:OntologyClass	hp	UMLS:C4021410	Abnormality of the epiphysis of the distal phalanx of the thumb. This epiphysis is located on the proximal end of the phalanx.	http://purl.obolibrary.org/obo/HP_0009662		Abnormality of the end part of the outermost bone of the thumb|Abnormality of terminal thumb epiphysis
OBO:HP_0009663	Abnormality of the epiphysis of the proximal phalanx of the thumb	biolink:OntologyClass	hp	UMLS:C4024254	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.	http://purl.obolibrary.org/obo/HP_0009663		Abnormality of end part of thumb innermost long bone
OBO:HP_0009664	Absent epiphysis of the proximal phalanx of the thumb	biolink:OntologyClass	hp	UMLS:C4024253	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.	http://purl.obolibrary.org/obo/HP_0009664		Absent end part of thumb innermost long bone
OBO:HP_0009665	Bracket epiphysis of the proximal phalanx of the thumb	biolink:OntologyClass	hp	UMLS:C4024252	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.	http://purl.obolibrary.org/obo/HP_0009665		Bracket shaped end part of thumb innermost long bone
OBO:HP_0009666	Cone-shaped epiphysis of the proximal phalanx of the thumb	biolink:OntologyClass	hp	UMLS:C4024251	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.	http://purl.obolibrary.org/obo/HP_0009666		Cone-shaped end part of thumb innermost long bone
OBO:HP_0009667	Enlarged epiphysis of the proximal phalanx of the thumb	biolink:OntologyClass	hp	UMLS:C4024250	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.	http://purl.obolibrary.org/obo/HP_0009667		Enlarged end part of thumb innermost long bone
OBO:HP_0009668	Fragmentation of the epiphysis of the proximal phalanx of the thumb	biolink:OntologyClass	hp	UMLS:C4024249	Epiphysis of the proximal phalanx of the thumb having multiple bony fragments.	http://purl.obolibrary.org/obo/HP_0009668		Fragmentation of end part of thumb innermost long bone
OBO:HP_0009669	Irregular epiphysis of the proximal phalanx of the thumb	biolink:OntologyClass	hp	UMLS:C4024248	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.	http://purl.obolibrary.org/obo/HP_0009669		Irregular end part of thumb innermost long bone
OBO:HP_0009670	Ivory epiphysis of the proximal phalanx of the thumb	biolink:OntologyClass	hp	UMLS:C4024247	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.	http://purl.obolibrary.org/obo/HP_0009670		Increased bone density of end part of the innermost bone of the thumb
OBO:HP_0009671	Pseudoepiphysis of the proximal phalanx of the thumb	biolink:OntologyClass	hp	UMLS:C4024246	A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the proximal phalanx of the thumb.	http://purl.obolibrary.org/obo/HP_0009671		
OBO:HP_0009672	Small epiphysis of the proximal phalanx of the thumb	biolink:OntologyClass	hp	UMLS:C4024245	Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms.	http://purl.obolibrary.org/obo/HP_0009672		Small end part of thumb innermost long bone
OBO:HP_0009673	Stippling of the epiphysis of the proximal phalanx of the thumb	biolink:OntologyClass	hp	UMLS:C4024244	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.	http://purl.obolibrary.org/obo/HP_0009673		Speckled calcifications in end part of thumb innermost long bone
OBO:HP_0009674	Triangular epiphysis of the proximal phalanx of the thumb	biolink:OntologyClass	hp	UMLS:C4024243	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.	http://purl.obolibrary.org/obo/HP_0009674		Triangular end part of thumb innermost long bone
OBO:HP_0009675	Absent epiphysis of the distal phalanx of the thumb	biolink:OntologyClass	hp	UMLS:C4024242	Absence of the epiphysis located at the proximal end of the distal phalanx of the thumb.	http://purl.obolibrary.org/obo/HP_0009675		Absent end part of thumb outermost long bone
OBO:HP_0009676	Bracket epiphysis of the distal phalanx of the thumb	biolink:OntologyClass	hp	UMLS:C4024241	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.	http://purl.obolibrary.org/obo/HP_0009676		Bracket shaped end part of thumb outermost long bone
OBO:HP_0009677	Cone-shaped epiphysis of the distal phalanx of the thumb	biolink:OntologyClass	hp	UMLS:C4021409	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.	http://purl.obolibrary.org/obo/HP_0009677		Cone-shaped end part of thumb outermost long bone|Cone-shaped terminal thumb phalanx epiphysis
OBO:HP_0009678	Enlarged epiphysis of the distal phalanx of the thumb	biolink:OntologyClass	hp	UMLS:C4021408	Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms.	http://purl.obolibrary.org/obo/HP_0009678		Enlarged end part of thumb outermost long bone|Large terminal thumb phalanx epiphysis
OBO:HP_0009679	Fragmentation of the epiphysis of the distal phalanx of the thumb	biolink:OntologyClass	hp	UMLS:C4024240	Epiphysis of the distal phalanx of the thumb having multiple bony fragments.	http://purl.obolibrary.org/obo/HP_0009679		Fragmentation of end part thumb outermost long bone
OBO:HP_0009680	Irregular epiphysis of the distal phalanx of the thumb	biolink:OntologyClass	hp	UMLS:C4024239	Uneven radiographic opacity of the epiphysis of the distal phalanx of the thumb.	http://purl.obolibrary.org/obo/HP_0009680		Irregular end part of thumb outermost bone
OBO:HP_0009681	Ivory epiphysis of the distal phalanx of the thumb	biolink:OntologyClass	hp	UMLS:C4024238	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.	http://purl.obolibrary.org/obo/HP_0009681		Increased bone density of end part of the outermost bone of the thumb
OBO:HP_0009682	Pseudoepiphysis of the distal phalanx of the thumb	biolink:OntologyClass	hp	UMLS:C4024237	A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the distal phalanx of the thumb.	http://purl.obolibrary.org/obo/HP_0009682		Pseudoepiphysis of the outermost bone of the thumb
OBO:HP_0009683	Small epiphysis of the distal phalanx of the thumb	biolink:OntologyClass	hp	UMLS:C4024236	Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms.	http://purl.obolibrary.org/obo/HP_0009683		Small end part of thumb outermost bone
OBO:HP_0009684	Stippling of the epiphysis of the distal phalanx of the thumb	biolink:OntologyClass	hp	UMLS:C4024235	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the thumb.	http://purl.obolibrary.org/obo/HP_0009684		Speckled calcifications in the end part of the outermost thumb bone
OBO:HP_0009685	Triangular epiphysis of the distal phalanx of the thumb	biolink:OntologyClass	hp	UMLS:C4024234	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.	http://purl.obolibrary.org/obo/HP_0009685		Triangular end part of thumb outermost bone|Triangular epiphysis of the outermost bone of the thumb
OBO:HP_0009686	Absent epiphyses of the thumb	biolink:OntologyClass	hp	UMLS:C4024233	Absence of one or more epiphyses of the thumb.	http://purl.obolibrary.org/obo/HP_0009686		
OBO:HP_0009687	Bracket epiphyses of the thumb	biolink:OntologyClass	hp	UMLS:C4024232	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.	http://purl.obolibrary.org/obo/HP_0009687		Bracket shaped end part of the thumb bone
OBO:HP_0009688	Cone-shaped epiphysis of the thumb	biolink:OntologyClass	hp	UMLS:C4021407	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.	http://purl.obolibrary.org/obo/HP_0009688		Cone-shaped end part of thumb long bone|Cone-shaped epiphyses of the thumb|Cone-shaped thumb epiphyses
OBO:HP_0009689	Enlarged thumb epiphysis	biolink:OntologyClass	hp	UMLS:C4021406	Abnormally large size of the epiphyses of the thumb with respect to age-dependent norms.	http://purl.obolibrary.org/obo/HP_0009689		Enlarged end part of thumb long bone|Enlarged epiphyses of the thumb
OBO:HP_0009690	Fragmentation of thumb epiphysis	biolink:OntologyClass	hp	UMLS:C4021405	Epiphysis of the thumb having multiple bony fragments.	http://purl.obolibrary.org/obo/HP_0009690		Fragmentation of end part of long bone of thumb|Fragmentation of the epiphyses of the thumb
OBO:HP_0009691	Irregular thumb epiphysis	biolink:OntologyClass	hp	UMLS:C4021404	Uneven radiographic opacity of the one or more epiphyses of the thumb.	http://purl.obolibrary.org/obo/HP_0009691		Irregular end part of thumb long bone|Irregular epiphyses of the thumb
OBO:HP_0009692	Ivory epiphysis of the thumb	biolink:OntologyClass	hp	UMLS:C4021403	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.	http://purl.obolibrary.org/obo/HP_0009692		Increased bone density of end part of the thumb|Ivory epiphyses of the thumb
OBO:HP_0009693	Pseudoepiphysis of the thumb	biolink:OntologyClass	hp	UMLS:C3552484	A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of one or more phalanges of the thumb.	http://purl.obolibrary.org/obo/HP_0009693		Pseudoepiphyses of the thumb
OBO:HP_0009694	Small thumb epiphysis	biolink:OntologyClass	hp	UMLS:C4021402	Abnormally small size of one or more of the epiphyses of the thumb with respect to age-dependent norms.	http://purl.obolibrary.org/obo/HP_0009694		Small end part of thumb long bone|Small epiphyses of the thumb
OBO:HP_0009695	Stippling of thumb epiphysis	biolink:OntologyClass	hp	UMLS:C4021401	The presence of abnormal punctate (speckled, dot-like) calcifications in one or more of the epiphyses of the thumb.	http://purl.obolibrary.org/obo/HP_0009695		Speckled calcifications in end part of thumb bone|Stippling of the epiphyses of the thumb
OBO:HP_0009696	Triangular epiphyses of the thumb	biolink:OntologyClass	hp	UMLS:C4024231		http://purl.obolibrary.org/obo/HP_0009696		Triangular end part of the thumb bone
OBO:HP_0009697	Contracture of the distal interphalangeal joint of the fingers	biolink:OntologyClass	hp	UMLS:C4024230	Chronic loss of joint motion in one or more distal interphalangeal joints of the fingers.	http://purl.obolibrary.org/obo/HP_0009697		
OBO:HP_0009699	Osteolytic defects of the hand bones	biolink:OntologyClass	hp	UMLS:C4021400		http://purl.obolibrary.org/obo/HP_0009699		Lytic defects of hand bones
OBO:HP_0009700	Finger symphalangism	biolink:OntologyClass	hp	UMLS:C4021399	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.	http://purl.obolibrary.org/obo/HP_0009700		Fused finger bones|Symphalangism of the hand|Synostosis involving bones of the fingers
OBO:HP_0009701	Metacarpal synostosis	biolink:OntologyClass	hp	UMLS:C4021398	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).	http://purl.obolibrary.org/obo/HP_0009701	hposlim_core	Fused long bones of hand|Synostosis involving metacarpal bones|Synostosis involving the metacarpal bones
OBO:HP_0009702	Carpal synostosis	biolink:OntologyClass	hp	SNOMEDCT_US:253930002|UMLS:C0431863	Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform).	http://purl.obolibrary.org/obo/HP_0009702	hposlim_core	Fused wrist bones|Carpal bone fusion|Carpal fusion|Fused carpal bones|Fusion of carpal bones|Synostosis involving the carpal bones
OBO:HP_0009703	Synostosis involving the 1st metacarpal	biolink:OntologyClass	hp	UMLS:C4021397	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.	http://purl.obolibrary.org/obo/HP_0009703		Fusion involving 1st long bone of hand|First metacarpophalangeal joint synostosis|Symphalangism affecting the 1st metacarpal
OBO:HP_0009704	Chronic CSF lymphocytosis	biolink:OntologyClass	hp	UMLS:C4024229	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.	http://purl.obolibrary.org/obo/HP_0009704		Chronic cerebrospinal fluid lymphocytosis
OBO:HP_0009705	Synostosis involving the 2nd metacarpal	biolink:OntologyClass	hp	UMLS:C4024228		http://purl.obolibrary.org/obo/HP_0009705		Fusion involving the 2nd long bone of hand
OBO:HP_0009706	Synostosis involving the 3rd metacarpal	biolink:OntologyClass	hp	UMLS:C4024227		http://purl.obolibrary.org/obo/HP_0009706		Fusion involving the 3rd long bone of hand
OBO:HP_0009707	Synostosis involving the 4th metacarpal	biolink:OntologyClass	hp	UMLS:C4024226		http://purl.obolibrary.org/obo/HP_0009707		Fusion involving the 4th long bone of hand
OBO:HP_0009708	Synostosis involving the 5th metacarpal	biolink:OntologyClass	hp	UMLS:C4024225		http://purl.obolibrary.org/obo/HP_0009708		Fusion involving the 5th long bone of hand
OBO:HP_0009709	Increased CSF interferon alpha	biolink:OntologyClass	hp	UMLS:C1856983	Increased concentration of interferon alpha in the cerebrospinal fluid (CSF).	http://purl.obolibrary.org/obo/HP_0009709		
OBO:HP_0009710	Chilblains	biolink:OntologyClass	hp	UMLS:C4024224	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.	http://purl.obolibrary.org/obo/HP_0009710		Chilblain lesions
OBO:HP_0009711	Retinal capillary hemangioma	biolink:OntologyClass	hp	NCIT:C3801|SNOMEDCT_US:312935003|UMLS:C0730303|UMLS:C1514915	A benign vascular tumor of the retina without any neoplastic characteristics.	http://purl.obolibrary.org/obo/HP_0009711	hposlim_core	Retinal hemangioblastoma
OBO:HP_0009713	Spinal hemangioblastoma	biolink:OntologyClass	hp	NCIT:C3801|UMLS:C4024223	A hemangioblastoma of the spinal cord.	http://purl.obolibrary.org/obo/HP_0009713		
OBO:HP_0009714	Abnormality of the epididymis	biolink:OntologyClass	hp	UMLS:C4024222	An abnormality of the epididymis.	http://purl.obolibrary.org/obo/HP_0009714		
OBO:HP_0009715	Papillary cystadenoma of the epididymis	biolink:OntologyClass	hp	NCIT:C2974|UMLS:C4024221	A cystadenoma, an epithelial tumor, that originates within the head of the epididymis.	http://purl.obolibrary.org/obo/HP_0009715		
OBO:HP_0009716	Subependymal nodules	biolink:OntologyClass	hp	UMLS:C1968958	Small nodular masses which originate in the subependymal region of the lateral ventricles and protrude into the ventricular cavity. They may represent subependymal hamartomas of tuberous sclerosis or nodular heterotopia of grey matter.	http://purl.obolibrary.org/obo/HP_0009716		
OBO:HP_0009717	Cortical tubers	biolink:OntologyClass	hp	UMLS:C1968959	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.	http://purl.obolibrary.org/obo/HP_0009717		
OBO:HP_0009718	Subependymal giant-cell astrocytoma	biolink:OntologyClass	hp	MSH:D001254|SNOMEDCT_US:1586004|SNOMEDCT_US:449799008|UMLS:C0205768	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.	http://purl.obolibrary.org/obo/HP_0009718		
OBO:HP_0009719	Hypomelanotic macule	biolink:OntologyClass	hp	UMLS:C4024220	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.	http://purl.obolibrary.org/obo/HP_0009719		Hypomelanotic macules
OBO:HP_0009720	Adenoma sebaceum	biolink:OntologyClass	hp	MSH:D014402|SNOMEDCT_US:36025004|SNOMEDCT_US:78424008|UMLS:C0265319|UMLS:C1368816	The presence of a sebaceous adenoma with origin in the sebum secreting cells of the skin.	http://purl.obolibrary.org/obo/HP_0009720		Facial angiofibromas|Sebaceous adenoma|Sebaceous adenomas
OBO:HP_0009721	Shagreen patch	biolink:OntologyClass	hp	SNOMEDCT_US:254244007|UMLS:C0432363	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.	http://purl.obolibrary.org/obo/HP_0009721	hposlim_core	
OBO:HP_0009722	Dental enamel pits	biolink:OntologyClass	hp	UMLS:C1860711	The presence of small depressions in the dental enamel.	http://purl.obolibrary.org/obo/HP_0009722		Dental enamel pits|Pitting of tooth enamel|Tooth enamel pits|Dental enamel pitting
OBO:HP_0009723	Abnormality of the subungual region	biolink:OntologyClass	hp	UMLS:C4024219	A lesion located beneath a fingernail or toenail.	http://purl.obolibrary.org/obo/HP_0009723		
OBO:HP_0009724	Subungual fibromas	biolink:OntologyClass	hp	SNOMEDCT_US:39295002|UMLS:C0266003	The presence of fibromata beneath finger or toenails.	http://purl.obolibrary.org/obo/HP_0009724		Subungual fibroma
OBO:HP_0009725	Bladder neoplasm	biolink:OntologyClass	hp	MSH:D001749|NCIT:C3262|SNOMEDCT_US:126885006|UMLS:C0005695	The presence of a neoplasm of the urinary bladder.	http://purl.obolibrary.org/obo/HP_0009725		Bladder cancer|Bladder tumor
OBO:HP_0009726	Renal neoplasm	biolink:OntologyClass	hp	MSH:D007680|NCIT:C3262|SNOMEDCT_US:126880001|UMLS:C0022665|UMLS:C1378703	The presence of a neoplasm of the kidney.	http://purl.obolibrary.org/obo/HP_0009726		Kidney cancer|Renal tumors|Neoplasia of the kidneys|Renal neoplasia
OBO:HP_0009727	Achromatic retinal patches	biolink:OntologyClass	hp	UMLS:C1860710	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.	http://purl.obolibrary.org/obo/HP_0009727		Punched out areas of chorioretinal hypopigmentation
OBO:HP_0009728	Neoplasm of striated muscle	biolink:OntologyClass	hp	NCIT:C3262|UMLS:C4021396	A benign or malignant neoplasm (tumour) originating in striated muscle, either skeletal muscle or cardiac muscle.	http://purl.obolibrary.org/obo/HP_0009728		Tumors of striated muscle
OBO:HP_0009729	Cardiac rhabdomyoma	biolink:OntologyClass	hp	UMLS:C1332852	A benign tumor of cardiac striated muscle.	http://purl.obolibrary.org/obo/HP_0009729		
OBO:HP_0009730	Rhabdomyoma	biolink:OntologyClass	hp	MSH:D012207|NCIT:C3358|SNOMEDCT_US:302846007|SNOMEDCT_US:402877008|SNOMEDCT_US:43375002|UMLS:C0035411	A benign tumor of striated muscle.	http://purl.obolibrary.org/obo/HP_0009730		
OBO:HP_0009731	Cerebral hamartoma	biolink:OntologyClass	hp	UMLS:C4024218	The presence of a hamartoma of the cerebrum.	http://purl.obolibrary.org/obo/HP_0009731		Cerebral hamartomata
OBO:HP_0009732	Plexiform neurofibroma	biolink:OntologyClass	hp	MSH:D018318|SNOMEDCT_US:403818001|SNOMEDCT_US:41252002|UMLS:C0206728	A neurofibroma in which Schwann cells proliferate inside the nerve sheath, producing an irregularly thickened, distorted, tortuous structure.	http://purl.obolibrary.org/obo/HP_0009732		
OBO:HP_0009733	Glioma	biolink:OntologyClass	hp	MSH:D005910|NCIT:C3059|SNOMEDCT_US:115240006|SNOMEDCT_US:393564001|SNOMEDCT_US:74532006|UMLS:C0017638	The presence of a glioma, which is a neoplasm of the central nervous system originating from a glial cell (astrocytes or oligodendrocytes).	http://purl.obolibrary.org/obo/HP_0009733		
OBO:HP_0009734	Optic nerve glioma	biolink:OntologyClass	hp	MSH:D020339|SNOMEDCT_US:254976006|SNOMEDCT_US:404662003|UMLS:C0346326	A glioma originating in the optic nerve or optic chiasm.	http://purl.obolibrary.org/obo/HP_0009734		Optic glioma
OBO:HP_0009735	Spinal neurofibromas	biolink:OntologyClass	hp	UMLS:C4024217	Neurofibromas originating in the spine.	http://purl.obolibrary.org/obo/HP_0009735		
OBO:HP_0009736	Tibial pseudarthrosis	biolink:OntologyClass	hp	UMLS:C4024216	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.	http://purl.obolibrary.org/obo/HP_0009736		Tibial pseudoarthrosis
OBO:HP_0009737	Lisch nodules	biolink:OntologyClass	hp	UMLS:C1860334	The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris..	http://purl.obolibrary.org/obo/HP_0009737	hposlim_core	Iris hamartomas
OBO:HP_0009738	Abnormality of the antihelix	biolink:OntologyClass	hp	UMLS:C4021395	An abnormality of the antihelix.	http://purl.obolibrary.org/obo/HP_0009738	hposlim_core	Abnormal antehelix|Abnormal anthelix|Abnormal antihelix
OBO:HP_0009739	Hypoplasia of the antihelix	biolink:OntologyClass	hp	UMLS:C4021394	Developmental hypoplasia of the antihelix.	http://purl.obolibrary.org/obo/HP_0009739		Hypoplastic antihelix
OBO:HP_0009740	Aplasia of the parotid gland	biolink:OntologyClass	hp	UMLS:C1400252|UMLS:C4020779|UMLS:C4024215	Absence of the parotid gland.	http://purl.obolibrary.org/obo/HP_0009740		Abnormally small parotid gland|Underdevelopment of parotid gland|Absence of the parotid gland|Hypoplasia of parotid gland
OBO:HP_0009741	Nephrosclerosis	biolink:OntologyClass	hp	MSH:D009400|SNOMEDCT_US:32916005|UMLS:C0027719	Nephrosclerosis refers to thickening or scarring ("sclerosis") resulting from damage to the renal arterioles, also referred to as arteriosclerosis of the kidney arteries.	http://purl.obolibrary.org/obo/HP_0009741		Scarring of kidney arteries|Thickening of kidney artiries
OBO:HP_0009742	Stiff shoulders	biolink:OntologyClass	hp	SNOMEDCT_US:249918006|UMLS:C0241042	Shoulder joint stiffness is a perceived sensation of tightness in shoulders when attempting to move them after a period of inactivity.	http://purl.obolibrary.org/obo/HP_0009742		Stiff shoulders
OBO:HP_0009743	Distichiasis	biolink:OntologyClass	hp	SNOMEDCT_US:95339000|UMLS:C0423848	Double rows of eyelashes.	http://purl.obolibrary.org/obo/HP_0009743	hposlim_core	Distichiasis of eyelid eyelashes
OBO:HP_0009744	Abnormal spinal dura mater morphology	biolink:OntologyClass	hp	UMLS:C4024214	An abnormality of the spinal dura mater, which is the outermost of the three layers of the meninges surrounding the spinal cord.	http://purl.obolibrary.org/obo/HP_0009744		Abnormality of the spinal dura mater
OBO:HP_0009745	Spinalarachnoid cyst	biolink:OntologyClass	hp	UMLS:C4021393	Presence of arachnoid cysts of the spinal canal extradurally in the epidural space.	http://purl.obolibrary.org/obo/HP_0009745		Epidural arachnoid cysts of the spinal canal
OBO:HP_0009746	Thick nasal septum	biolink:OntologyClass	hp	UMLS:C1844810	Abnormally increased thickness of the nasal septum.	http://purl.obolibrary.org/obo/HP_0009746		Broad nasal septum|Broad septum of nose|Thick nasal septum|Thick septum of nose|Wide nasal septum|Wide septum of nose
OBO:HP_0009747	Lumbosacral hirsutism	biolink:OntologyClass	hp	UMLS:C1851095	Abnormally increased hair growth in the lumbosacral region.	http://purl.obolibrary.org/obo/HP_0009747		
OBO:HP_0009748	Large earlobe	biolink:OntologyClass	hp	UMLS:C1844573	Increased volume of the earlobe, that is, abnormally prominent ear lobules.	http://purl.obolibrary.org/obo/HP_0009748	hposlim_core	Fleshy earlobe|Fleshy earlobes|Large earlobe|Prominent ear lobes|prominent ear lobules
OBO:HP_0009751	Aplasia of the pectoralis major muscle	biolink:OntologyClass	hp	UMLS:C4024213	Absence of the pectoralis major muscle.	http://purl.obolibrary.org/obo/HP_0009751		Absent pectoralis major muscle
OBO:HP_0009752	Cleft in skull base	biolink:OntologyClass	hp	UMLS:C1856027	A bony defect in the skull base.	http://purl.obolibrary.org/obo/HP_0009752		Cleft in skull base|Cleft in cranial base
OBO:HP_0009754	Fibrous syngnathia	biolink:OntologyClass	hp	UMLS:C4021392	Complete or nearly complete soft tissue fusion of the alveolar ridges.	http://purl.obolibrary.org/obo/HP_0009754	hposlim_core	Alveolar synechiae|Fusion of the alveolar ridges
OBO:HP_0009755	Ankyloblepharon	biolink:OntologyClass	hp	MSH:C536373|SNOMEDCT_US:193953008|SNOMEDCT_US:400952003|UMLS:C0339182|UMLS:C1302999	Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue.	http://purl.obolibrary.org/obo/HP_0009755	hposlim_core	Adhesion of eyelids|Eyelids stuck together|Ankyloblepharon filiforme adnatum|Eyelid synechiae
OBO:HP_0009756	Popliteal pterygium	biolink:OntologyClass	hp	UMLS:C3805420	A pterygium (or pterygia) occurring in the popliteal region (the back of the knee).	http://purl.obolibrary.org/obo/HP_0009756	hposlim_core	
OBO:HP_0009757	Intercrural pterygium	biolink:OntologyClass	hp	UMLS:C3810471	A pterygium (or pterygia) in the intercrural (groin) region.	http://purl.obolibrary.org/obo/HP_0009757		
OBO:HP_0009758	Pyramidal skinfold extending from the base to the top of the nails	biolink:OntologyClass	hp	UMLS:C4024212	Pyramidal skinfold extending from the base to the top of the nails is a rare and distinctive anomaly seen in popliteal pterygia syndrome.	http://purl.obolibrary.org/obo/HP_0009758		
OBO:HP_0009759	Neck pterygia	biolink:OntologyClass	hp	UMLS:C1849577	Pterygia affecting the neck.	http://purl.obolibrary.org/obo/HP_0009759		Neck pterygium
OBO:HP_0009760	Antecubital pterygium	biolink:OntologyClass	hp	MSH:C566738|UMLS:C1867439	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.	http://purl.obolibrary.org/obo/HP_0009760	hposlim_core	Pterygium cubitale|Webbed elbow
OBO:HP_0009761	Anterior clefting of vertebral bodies	biolink:OntologyClass	hp	UMLS:C1849579	Anterior schisis (cleft or cleavage) of vertebral bodies.	http://purl.obolibrary.org/obo/HP_0009761		
OBO:HP_0009762	Facial wrinkling	biolink:OntologyClass	hp	SNOMEDCT_US:248194004|UMLS:C0262478	Excessive wrinkling of the skin of the face.	http://purl.obolibrary.org/obo/HP_0009762		Facial wrinkling
OBO:HP_0009763	Limb pain	biolink:OntologyClass	hp	SNOMEDCT_US:90834002|UMLS:C0030196	Chronic pain in the limbs with no clear focal etiology.	http://purl.obolibrary.org/obo/HP_0009763		Limb pain|Pain in extremities
OBO:HP_0009765	Low hanging columella	biolink:OntologyClass	hp	UMLS:C1856119|UMLS:C4280395	Columella extending inferior to the level of the nasal base, when viewed from the side.	http://purl.obolibrary.org/obo/HP_0009765		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
OBO:HP_0009767	Aplasia/Hypoplasia of the phalanges of the hand	biolink:OntologyClass	hp	UMLS:C1848670	Small or missing phalangeal bones of the fingers of the hand.	http://purl.obolibrary.org/obo/HP_0009767		Aplastic/hypoplastic phalanges|Aplastic/hypoplastic phalanges of the hand|Hypoplastic/absent phalanges
OBO:HP_0009768	Broad phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4021391	Increased width of the phalanges of the hand.	http://purl.obolibrary.org/obo/HP_0009768		Wide hand bones|Widening of phalanges of the hand
OBO:HP_0009769	Bullet-shaped phalanges of the hand	biolink:OntologyClass	hp	UMLS:C1854952	The presence of short and wide phalanges which taper distally ("bullet shaped").	http://purl.obolibrary.org/obo/HP_0009769		Bullet-shaped hand bones|Bullet-shaped phalanges of the hands|Conical bullet-shaped distal ends of phalanges
OBO:HP_0009770	Curved phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4024211		http://purl.obolibrary.org/obo/HP_0009770		Curved hand bones
OBO:HP_0009771	Osteolytic defects of the phalanges of the hand	biolink:OntologyClass	hp	MSH:D030981|SNOMEDCT_US:27201004|SNOMEDCT_US:63122002|UMLS:C0917990	Dissolution or degeneration of bone tissue of the phalanges of the hand.	http://purl.obolibrary.org/obo/HP_0009771		Breakdown of small bones of fingers|Acro-osteolysis|Acroosteolysis
OBO:HP_0009772	Patchy sclerosis of finger phalanx	biolink:OntologyClass	hp	UMLS:C1857508	Uneven (irregular) increase in bone density of one or more of the phalanges of the hand.	http://purl.obolibrary.org/obo/HP_0009772		Uneven increase in bone density in finger bone|Patchy sclerosis of the phalanges of the hand|Phalangeal sclerosis
OBO:HP_0009773	Symphalangism affecting the phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4021390	Fusion of two or more phalangeal bones of the hand.	http://purl.obolibrary.org/obo/HP_0009773		Fused finger bones of the hand|Synostosis involving phalanges of the hand
OBO:HP_0009774	Triangular shaped phalanges of the hand	biolink:OntologyClass	hp	UMLS:C2673397		http://purl.obolibrary.org/obo/HP_0009774		Triangular shaped hand bones|Delta phalanx/delta-like phalanx
OBO:HP_0009775	Amniotic constriction ring	biolink:OntologyClass	hp	MSH:C535821|MSH:D000652|SNOMEDCT_US:19988008|SNOMEDCT_US:238879003|UMLS:C0334166|UMLS:C1527388	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.	http://purl.obolibrary.org/obo/HP_0009775		Amniotic bands|Pseudoainhum|Amniotic constriction band
OBO:HP_0009776	Adactyly	biolink:OntologyClass	hp	Fyler:4173|SNOMEDCT_US:275348004|UMLS:C0238591|UMLS:C4280394	The absence of all phalanges of all the digits of a limb and the associated soft tissues.	http://purl.obolibrary.org/obo/HP_0009776	hposlim_core	Absent fingers or toes|Aphalangy
OBO:HP_0009777	Absent thumb	biolink:OntologyClass	hp	UMLS:C3278811	Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues.	http://purl.obolibrary.org/obo/HP_0009777	hposlim_core	Absent thumb|Absent thumbs|Aplasia of the thumb|Thumb aplasia
OBO:HP_0009778	Short thumb	biolink:OntologyClass	hp	MSH:C536903|SNOMEDCT_US:253936008|UMLS:C0431890	Hypoplasia (congenital reduction in size) of the thumb.	http://purl.obolibrary.org/obo/HP_0009778	hposlim_core	Short thumb|Short thumbs|Small thumbs|Hypoplastic thumb|Hypoplastic thumbs|Hypoplastic/small thumb|Thumb brachydactyly|Thumb hypoplasia
OBO:HP_0009779	3-4 toe syndactyly	biolink:OntologyClass	hp	UMLS:C1834062	Syndactyly with fusion of toes three and four.	http://purl.obolibrary.org/obo/HP_0009779		Webbed 3rd-4th toes|syndactyly of 3rd - 4th toes
OBO:HP_0009780	Iliac horns	biolink:OntologyClass	hp	SNOMEDCT_US:84308008|UMLS:C0263925	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.	http://purl.obolibrary.org/obo/HP_0009780		
OBO:HP_0009781	Lester's sign	biolink:OntologyClass	hp	UMLS:C4024210	A zone of darker pigmentation around the central part of the iris with a roughly cloverleaf or flower shape.	http://purl.obolibrary.org/obo/HP_0009781		
OBO:HP_0009782	Aplasia/Hypoplasia of the biceps	biolink:OntologyClass	hp	UMLS:C4024209	Absence or underdevelopment of the biceps muscle.	http://purl.obolibrary.org/obo/HP_0009782		Absent/small biceps|Absent/underdeveloped biceps
OBO:HP_0009783	Biceps aplasia	biolink:OntologyClass	hp	UMLS:C3805764	Absence of the biceps muscle.	http://purl.obolibrary.org/obo/HP_0009783		Absent biceps
OBO:HP_0009784	Aplasia/Hypoplasia of the triceps	biolink:OntologyClass	hp	UMLS:C4024208	Absence or underdevelopment of the triceps muscle.	http://purl.obolibrary.org/obo/HP_0009784		Absent/small triceps|Absent/underdeveloped triceps
OBO:HP_0009785	Triceps aplasia	biolink:OntologyClass	hp	UMLS:C3810484	Absence of the triceps muscle.	http://purl.obolibrary.org/obo/HP_0009785		Absent triceps
OBO:HP_0009786	Aplasia/Hypoplasia of the musculature of the thigh	biolink:OntologyClass	hp	UMLS:C4024207	Absence or underdevelopment involving the musculature of the thigh.	http://purl.obolibrary.org/obo/HP_0009786		Absent/small thigh muscles|Absent/underdeveloped thigh muscles
OBO:HP_0009787	Aplasia/Hypoplasia of the quadriceps	biolink:OntologyClass	hp	UMLS:C4024206	Absence or underdevelopment of the quadriceps muscle.	http://purl.obolibrary.org/obo/HP_0009787		Absent/small quadriceps|Absent/underdeveloped quadriceps
OBO:HP_0009788	Quadriceps aplasia	biolink:OntologyClass	hp	UMLS:C3805765	Absence of the quadriceps muscle.	http://purl.obolibrary.org/obo/HP_0009788		Absent quads
OBO:HP_0009789	Perianal abscess	biolink:OntologyClass	hp	SNOMEDCT_US:82127005|UMLS:C0031019	The presence of an abscess located around the anus.	http://purl.obolibrary.org/obo/HP_0009789		
OBO:HP_0009790	Hemisacrum	biolink:OntologyClass	hp	UMLS:C2677632	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.	http://purl.obolibrary.org/obo/HP_0009790		
OBO:HP_0009791	Bifid sacrum	biolink:OntologyClass	hp	UMLS:C4024204	Presence of a bifid sacral bone.	http://purl.obolibrary.org/obo/HP_0009791		
OBO:HP_0009792	Teratoma	biolink:OntologyClass	hp	MSH:D013724|NCIT:C3403|SNOMEDCT_US:55818009|UMLS:C0039538	The presence of a teratoma.	http://purl.obolibrary.org/obo/HP_0009792		
OBO:HP_0009793	Presacral teratoma	biolink:OntologyClass	hp	UMLS:C1867782	A type of sacrococcygeal teratoma located anterior to the sacrum and entirely inside the body (Altman type IV).	http://purl.obolibrary.org/obo/HP_0009793		Altman type IV sacrococcygeal teratoma|Retrorectal teratoma
OBO:HP_0009794	Branchial anomaly	biolink:OntologyClass	hp	UMLS:C1862066	Congenital developmental defect arising from the primitive branchial apparatus.	http://purl.obolibrary.org/obo/HP_0009794	hposlim_core	Abnormality of branchial apparatus|Abnormality of branchial arch|Branchial abnormality|Branchial anomalies
OBO:HP_0009795	Branchial fistula	biolink:OntologyClass	hp	SNOMEDCT_US:204268008|UMLS:C0546968	A congenital fistula in the neck resulting from incomplete closure of a branchial cleft.	http://purl.obolibrary.org/obo/HP_0009795	hposlim_core	Branchial cleft fistula
OBO:HP_0009796	Branchial cyst	biolink:OntologyClass	hp	MSH:D001935|SNOMEDCT_US:42362005|SNOMEDCT_US:59857007|UMLS:C0006131	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.	http://purl.obolibrary.org/obo/HP_0009796		Branchial cysts|Branchial cleft cyst
OBO:HP_0009797	Cholesteatoma	biolink:OntologyClass	hp	MSH:D002781|SNOMEDCT_US:363668000|SNOMEDCT_US:575006|UMLS:C0008373	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.	http://purl.obolibrary.org/obo/HP_0009797		
OBO:HP_0009798	Euthyroid goiter	biolink:OntologyClass	hp	MSH:C562732|SNOMEDCT_US:32251000119106|UMLS:C0302859	A goiter that is not associated with functional thyroid abnormalities.	http://purl.obolibrary.org/obo/HP_0009798		Euthyroid goitre
OBO:HP_0009799	Supernumerary spleens	biolink:OntologyClass	hp	SNOMEDCT_US:10362008|UMLS:C0266631	The presence of two or more accessory spleens.	http://purl.obolibrary.org/obo/HP_0009799		Extra spleen
OBO:HP_0009800	Maternal diabetes	biolink:OntologyClass	hp	MSH:D016640|SNOMEDCT_US:11687002|UMLS:C0085207|UMLS:C4020778	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.	http://purl.obolibrary.org/obo/HP_0009800		Maternal diabetes|gestational diabetes|maternal hyperglycemia
OBO:HP_0009802	Aplasia of the phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4024203|UMLS:C4280393	Absence of one or more of the phalanges of the hand.	http://purl.obolibrary.org/obo/HP_0009802		Absent finger bone of the hand
OBO:HP_0009803	Short phalanx of finger	biolink:OntologyClass	hp	UMLS:C0877165	Short (hypoplastic) phalanx of finger, affecting one or more phalanges.	http://purl.obolibrary.org/obo/HP_0009803		Short finger bones|Hypoplastic phalanges|Hypoplastic phalanges of hands|Hypoplastic/small phalanges of the hand|Phalangeal hypoplasia|Rudimentary phalanges|Short phalanges|Shortened phalanges
OBO:HP_0009804	Reduced number of teeth	biolink:OntologyClass	hp	UMLS:C4024202|UMLS:C4083050	The presence of a reduced number of teeth as in Hypodontia or as in Anodontia.	http://purl.obolibrary.org/obo/HP_0009804		Decreased tooth count|Reduced number of teeth|Decreased number of teeth|Fewer teeth than normal|Missing some teeth|Tooth agenesis|Failure of development of some teeth
OBO:HP_0009805	Low-output congestive heart failure	biolink:OntologyClass	hp	UMLS:C4024201	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.	http://purl.obolibrary.org/obo/HP_0009805		
OBO:HP_0009806	Nephrogenic diabetes insipidus	biolink:OntologyClass	hp	MSH:D018500|SNOMEDCT_US:111395007|UMLS:C0162283	A form of diabetes insipidus caused by failure of the kidneys to respond to vasopressin (AVP).	http://purl.obolibrary.org/obo/HP_0009806		
OBO:HP_0009808	Anomaly of the upper limb diaphyses	biolink:OntologyClass	hp	UMLS:C4021389	A structural abnormality of a diaphysis of the arm.	http://purl.obolibrary.org/obo/HP_0009808		Abnormality of shaft of long bone of the upper limbs|Abnormality involving the diaphyses of the upper limbs|Diaphyseal abnormality of the upper limbs
OBO:HP_0009809	Abnormality of upper limb metaphysis	biolink:OntologyClass	hp	UMLS:C4021388	An anomaly of one or more metaphyses of the arms.	http://purl.obolibrary.org/obo/HP_0009809		Abnormality of the wide portion of upper limb bone|Metaphyseal abnormality of the upper limbs
OBO:HP_0009810	Abnormality of upper limb joint	biolink:OntologyClass	hp	UMLS:C4021387		http://purl.obolibrary.org/obo/HP_0009810		Abnormality of the joints of the upper limbs|Abnormality of upper limb joint
OBO:HP_0009811	Abnormality of the elbow	biolink:OntologyClass	hp	UMLS:C4021386	An anomaly of the joint that connects the upper and the lower arm.	http://purl.obolibrary.org/obo/HP_0009811	hposlim_core	Abnormality of the elbow|Abnormality of the elbows
OBO:HP_0009812	Amelia involving the upper limbs	biolink:OntologyClass	hp	UMLS:C4024200	Amelia of one or both upper limbs.	http://purl.obolibrary.org/obo/HP_0009812		
OBO:HP_0009813	Upper limb phocomelia	biolink:OntologyClass	hp	SNOMEDCT_US:253926000|UMLS:C0265573	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).	http://purl.obolibrary.org/obo/HP_0009813		
OBO:HP_0009814	Upper limb peromelia	biolink:OntologyClass	hp	UMLS:C4024199	Peromelia affecting only the upper limbs. That is, the distal parts of the arm are missing leading to stump formation.	http://purl.obolibrary.org/obo/HP_0009814		
OBO:HP_0009815	Aplasia/hypoplasia of the extremities	biolink:OntologyClass	hp	UMLS:C0239399	Absence (due to failure to form) or underdevelopment of the extremities.	http://purl.obolibrary.org/obo/HP_0009815		Absent/small extremities|Absent/underdeveloped extremities|Short or absent limbs|Shortened limbs
OBO:HP_0009816	Lower limb undergrowth	biolink:OntologyClass	hp	SNOMEDCT_US:253959002|UMLS:C0345371	Leg shortening because of underdevelopment of one or more bones of the lower extremity.	http://purl.obolibrary.org/obo/HP_0009816		Lower limb undergrowth|Underdeveloped lower limb bones|Hypoplasia involving bones of the lower limbs|Hypoplasia of the lower limbs
OBO:HP_0009817	Aplasia involving bones of the lower limbs	biolink:OntologyClass	hp	UMLS:C4024198		http://purl.obolibrary.org/obo/HP_0009817		Absent bones of the lower limbs
OBO:HP_0009818	Amelia involving the lower limbs	biolink:OntologyClass	hp	UMLS:C4024197	Amelia of one or both legs.	http://purl.obolibrary.org/obo/HP_0009818		
OBO:HP_0009819	Lower limb phocomelia	biolink:OntologyClass	hp	SNOMEDCT_US:253963009|UMLS:C0265625	Phocomelia affecting only the lower limbs.	http://purl.obolibrary.org/obo/HP_0009819		
OBO:HP_0009820	Lower limb peromelia	biolink:OntologyClass	hp	UMLS:C4024196	Peromelia affecting only the lower limbs. That is, the distal parts of the leg are missing leading to stump formation.	http://purl.obolibrary.org/obo/HP_0009820		
OBO:HP_0009821	Forearm undergrowth	biolink:OntologyClass	hp	UMLS:C1855299	Forearm shortening because of underdevelopment of one or more bones of the forearm.	http://purl.obolibrary.org/obo/HP_0009821		Forearm undergrowth|Short forearm bones|Short forearms|Shortened forearm|Hypoplasia involving forearm bones
OBO:HP_0009822	Aplasia involving forearm bones	biolink:OntologyClass	hp	UMLS:C4024195		http://purl.obolibrary.org/obo/HP_0009822		Absent forearm bones
OBO:HP_0009823	Aplasia involving bones of the upper limbs	biolink:OntologyClass	hp	UMLS:C4024194		http://purl.obolibrary.org/obo/HP_0009823		Absent bones of the upper limbs
OBO:HP_0009824	Upper limb undergrowth	biolink:OntologyClass	hp	UMLS:C1837406	Arm shortening because of underdevelopment of one or more bones of the upper extremity.	http://purl.obolibrary.org/obo/HP_0009824		Short arms|Shortening of the arms|Upper limb undergrowth|Hypoplasia involving bones of the upper limbs
OBO:HP_0009825	Aplasia involving bones of the extremities	biolink:OntologyClass	hp	UMLS:C4024193		http://purl.obolibrary.org/obo/HP_0009825		Absent bones of the extremities
OBO:HP_0009826	Limb undergrowth	biolink:OntologyClass	hp	UMLS:C0239399	Limb shortening because of underdevelopment of one or more bones of the extremities.	http://purl.obolibrary.org/obo/HP_0009826		Limb undergrowth|Short limb|Short limbs|limb shortening|Hypoplasia involving bones of the extremities
OBO:HP_0009827	Amelia	biolink:OntologyClass	hp	MEDDRA:10001926|MSH:D004480|SNOMEDCT_US:62588002|UMLS:C0002447	Congenital absence (aplasia) of one or more limbs.	http://purl.obolibrary.org/obo/HP_0009827	hposlim_core	
OBO:HP_0009828	Peromelia	biolink:OntologyClass	hp	UMLS:C4024192	The distal parts of the limbs are missing leading to a stump formation.	http://purl.obolibrary.org/obo/HP_0009828		
OBO:HP_0009829	Phocomelia	biolink:OntologyClass	hp	MEDDRA:10034923|MSH:D004480|SNOMEDCT_US:22841008|UMLS:C0031575	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).	http://purl.obolibrary.org/obo/HP_0009829	hposlim_core	
OBO:HP_0009830	Peripheral neuropathy	biolink:OntologyClass	hp	MSH:D010523|SNOMEDCT_US:302226006|SNOMEDCT_US:386033004|SNOMEDCT_US:42658009|UMLS:C0031117|UMLS:C0442874	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.	http://purl.obolibrary.org/obo/HP_0009830		Peripheral nerve damage|Peripheral neuritis|Neuropathy
OBO:HP_0009831	Mononeuropathy	biolink:OntologyClass	hp	MSH:D020422|SNOMEDCT_US:128189008|UMLS:C0494491	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.	http://purl.obolibrary.org/obo/HP_0009831		Single damaged nerve
OBO:HP_0009832	Abnormal distal phalanx morphology of finger	biolink:OntologyClass	hp	UMLS:C4021385	Any anomaly of distal phalanx of finger.	http://purl.obolibrary.org/obo/HP_0009832		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
OBO:HP_0009833	Abnormal middle phalanx morphology of the hand	biolink:OntologyClass	hp	UMLS:C4024191	An anomaly of middle phalanx of finger.	http://purl.obolibrary.org/obo/HP_0009833		Abnormality of the middle finger bones of the hand|Abnormality of the middle phalanges of the hand
OBO:HP_0009834	Abnormal proximal phalanx morphology of the hand	biolink:OntologyClass	hp	UMLS:C4024190		http://purl.obolibrary.org/obo/HP_0009834		Abnormality of the innermost finger bones of the hand|Abnormality of the proximal phalanges of the hand
OBO:HP_0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	biolink:OntologyClass	hp	UMLS:C1861336	Absence or underdevelopment of the distal phalanges.	http://purl.obolibrary.org/obo/HP_0009835		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
OBO:HP_0009836	Broad distal phalanx of finger	biolink:OntologyClass	hp	UMLS:C1850630	Abnormally wide (broad) distal phalanx of finger.	http://purl.obolibrary.org/obo/HP_0009836		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
OBO:HP_0009837	Bullet-shaped distal phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4024189	Short and wide distal phalanges that taper distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.	http://purl.obolibrary.org/obo/HP_0009837		Bullet-shaped outermost finger bone of the hand
OBO:HP_0009838	Curved distal phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4024188		http://purl.obolibrary.org/obo/HP_0009838		Curved outermost finger bone of the hand
OBO:HP_0009839	Osteolytic defects of the distal phalanges of the hand	biolink:OntologyClass	hp	UMLS:C1849547		http://purl.obolibrary.org/obo/HP_0009839		Acro-osteolysis of distal phalanges|Acroosteolysis of distal phalanges|Osteolytic defects of the outermost finger bone of the hand
OBO:HP_0009840	Patchy sclerosis of distal phalanx of finger	biolink:OntologyClass	hp	UMLS:C4021384	Uneven (irregular) increase in bone density of the distal phalanges of the hand.	http://purl.obolibrary.org/obo/HP_0009840		Uneven increase in bone density in outermost finger bone|Patchy sclerosis of the distal phalanges of the hand
OBO:HP_0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	biolink:OntologyClass	hp	UMLS:C1862152		http://purl.obolibrary.org/obo/HP_0009843		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
OBO:HP_0009844	Broad middle phalanx of finger	biolink:OntologyClass	hp	UMLS:C4021383	Increased width of the middle phalanx of finger.	http://purl.obolibrary.org/obo/HP_0009844		Broad middle finger bones|Broad middle phalanges of finger|Broad middle phalanges of the hand
OBO:HP_0009845	Bullet-shaped middle phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4024187	Any of the middle phalanges with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.	http://purl.obolibrary.org/obo/HP_0009845		
OBO:HP_0009846	Curved middle phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4024186		http://purl.obolibrary.org/obo/HP_0009846		Curved middle finger bonds of the hand
OBO:HP_0009847	Osteolytic defects of the middle phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4024185		http://purl.obolibrary.org/obo/HP_0009847		
OBO:HP_0009848	Patchy sclerosis of middle phalanx of finger	biolink:OntologyClass	hp	UMLS:C4021382	Uneven (irregular) increase in bone density of one or more of the middle phalanges of the hand.	http://purl.obolibrary.org/obo/HP_0009848		Uneven increase in bone density in the middle finger bones of the hand|Patchy sclerosis of the middle phalanges of the hand
OBO:HP_0009849	Symphalangism of middle phalanx of finger	biolink:OntologyClass	hp	UMLS:C4024184	Fusion of a middle phalanx of a finger with another bone.	http://purl.obolibrary.org/obo/HP_0009849		Fused middle finger bone
OBO:HP_0009850	Triangular shaped middle phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4024183		http://purl.obolibrary.org/obo/HP_0009850		Triangular shaped middle finger bones of the hand
OBO:HP_0009851	Aplasia/Hypoplasia of the proximal phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4024182		http://purl.obolibrary.org/obo/HP_0009851		Absent/small innermost finger bones of the hand|Absent/underdeveloped innermost finger bones of the hand
OBO:HP_0009852	Broad proximal phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4024181	Increased width of the proximal phalanges of the finger.	http://purl.obolibrary.org/obo/HP_0009852		Broad innermost finger bones of the hand|Wide innermost finger bones of the hand
OBO:HP_0009853	Bullet-shaped proximal phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4024180	Short and wide proximal phalanges that taper distally . Bullet-shaped phalanges lack the normal diaphyseal constriction.	http://purl.obolibrary.org/obo/HP_0009853		Bullet-shaped innermost finger bones of the hand
OBO:HP_0009854	Curved proximal phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4024179		http://purl.obolibrary.org/obo/HP_0009854		Curved innermost finger bones of the hand
OBO:HP_0009855	Osteolytic defects of the proximal phalanges of the hand	biolink:OntologyClass	hp	UMLS:C1850148		http://purl.obolibrary.org/obo/HP_0009855		Proximal phalanges osteolysis
OBO:HP_0009856	Patchy sclerosis of proximal phalanx of finger	biolink:OntologyClass	hp	UMLS:C4021381	Uneven increase in bone density of the proximal phalanges of the hand.	http://purl.obolibrary.org/obo/HP_0009856		Uneven increase in bone density in innermost finger bone|Patchy sclerosis of the proximal phalanges of the hand
OBO:HP_0009857	Symphalangism affecting the proximal phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4024178		http://purl.obolibrary.org/obo/HP_0009857		Fused innermost hand bones
OBO:HP_0009858	Triangular shaped proximal phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4024177		http://purl.obolibrary.org/obo/HP_0009858		Triangular shaped innermost finger bone
OBO:HP_0009875	Triangular shaped distal phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4024176		http://purl.obolibrary.org/obo/HP_0009875		Triangular shaped outermost bone of the hand
OBO:HP_0009878	Cerebellar ataxia associated with quadrupedal gait	biolink:OntologyClass	hp	UMLS:C4024175	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).	http://purl.obolibrary.org/obo/HP_0009878		
OBO:HP_0009879	Simplified gyral pattern	biolink:OntologyClass	hp	UMLS:C2749675	An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly.	http://purl.obolibrary.org/obo/HP_0009879		Cortical gyral simplification
OBO:HP_0009880	Broad distal phalanges of all fingers	biolink:OntologyClass	hp	UMLS:C4024174	Abnormally wide (broad) distal phalanx of finger of all fingers.	http://purl.obolibrary.org/obo/HP_0009880		Broad outermost hand bones
OBO:HP_0009881	Aplasia of the distal phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4024173		http://purl.obolibrary.org/obo/HP_0009881		Absent outermost hand bone|Absent distal phalanges of the hand|Aplasia of outermost hand bone
OBO:HP_0009882	Short distal phalanx of finger	biolink:OntologyClass	hp	UMLS:C1839829	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.	http://purl.obolibrary.org/obo/HP_0009882	hposlim_core	Short outermost finger bone|Brachytelophalangy|Distal phalangeal hypoplasia|Hypoplasia of the distal phalanges|Hypoplasia of the distal phalanges of the hand|Hypoplasic terminal phalanges|Hypoplastic distal phalanges|Hypoplastic terminal phalanges|Short distal phalanges|Terminal phalangeal hypoplasia of hand
OBO:HP_0009883	Duplication of the distal phalanx of hand	biolink:OntologyClass	hp	UMLS:C1849343	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.	http://purl.obolibrary.org/obo/HP_0009883		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
OBO:HP_0009884	Tapered distal phalanges of finger	biolink:OntologyClass	hp	UMLS:C1969237	A reduction in diameter of the distal phalanx of finger towards the distal end.	http://purl.obolibrary.org/obo/HP_0009884		Tapered outermost finger bone|Tapered distal phalanges|Tapered distal phalanges of the hand
OBO:HP_0009885	obsolete Prenatal short stature	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0009885		
OBO:HP_0009886	Trichorrhexis nodosa	biolink:OntologyClass	hp	SNOMEDCT_US:22486004|SNOMEDCT_US:238736006|UMLS:C0263485	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.	http://purl.obolibrary.org/obo/HP_0009886		
OBO:HP_0009887	Abnormality of hair pigmentation	biolink:OntologyClass	hp	UMLS:C4024172	An abnormality of hair pigmentation (color).	http://purl.obolibrary.org/obo/HP_0009887		Abnormality of hair color|Abnormality of hair pigmentation
OBO:HP_0009888	Abnormality of secondary sexual hair	biolink:OntologyClass	hp	UMLS:C4024171	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.	http://purl.obolibrary.org/obo/HP_0009888		Abnormality of secondary sexual hair
OBO:HP_0009889	Localized hirsutism	biolink:OntologyClass	hp	UMLS:C4024170	Abnormally increased hair growth with a localized distribution.	http://purl.obolibrary.org/obo/HP_0009889		Localized abnormal hair growth|Localised hirsutism
OBO:HP_0009890	High anterior hairline	biolink:OntologyClass	hp	UMLS:C3276036	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.	http://purl.obolibrary.org/obo/HP_0009890	hposlim_core	High frontal hairline
OBO:HP_0009891	Underdeveloped supraorbital ridges	biolink:OntologyClass	hp	UMLS:C1861869|UMLS:C4020777	Flatness of the supraorbital portion of the frontal bones.	http://purl.obolibrary.org/obo/HP_0009891	hposlim_core	Flattened bony protrusion above eyes|Underdeveloped brows|Depressed supraorbital margins|Depressed supraorbital ridge|Flat supraorbital margins|Flat supraorbital ridge|Hypoplasia of supraorbital margins|Hypoplasia of the supraorbital ridges|Hypoplastic supraorbital ridges|Shallow orbital ridges|Shallow supraorbital ridge
OBO:HP_0009892	Anotia	biolink:OntologyClass	hp	MSH:D065817|SNOMEDCT_US:57436000|UMLS:C0702139|UMLS:C1408788	Complete absence of any auricular structures.	http://purl.obolibrary.org/obo/HP_0009892	hposlim_core	Absent ear|Absent ears|Congenital absence of external ear
OBO:HP_0009893	Telangiectasia of the ear	biolink:OntologyClass	hp	UMLS:C4024169	The presence of telangiectasia of the ear.	http://purl.obolibrary.org/obo/HP_0009893	hposlim_core	
OBO:HP_0009894	Thickened ears	biolink:OntologyClass	hp	UMLS:C4024168	Increased thickness of the external ear.	http://purl.obolibrary.org/obo/HP_0009894	hposlim_core	Thickened ears
OBO:HP_0009895	Abnormality of the crus of the helix	biolink:OntologyClass	hp	UMLS:C4021380	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.	http://purl.obolibrary.org/obo/HP_0009895		Abnormality of the crus of the ear
OBO:HP_0009896	Abnormality of the antitragus	biolink:OntologyClass	hp	UMLS:C4024167	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.	http://purl.obolibrary.org/obo/HP_0009896	hposlim_core	
OBO:HP_0009897	Horizontal crus of helix	biolink:OntologyClass	hp	UMLS:C4021379	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.	http://purl.obolibrary.org/obo/HP_0009897	hposlim_core	Helix, crus, horizontal|Horizontal orientation of the crus of helix|Horizontal orientation of the ear crus
OBO:HP_0009898	Underdeveloped crus of the helix	biolink:OntologyClass	hp	UMLS:C4021378	Developmental hypoplasia of the crus of the helix. That is, flatter and/or shorter crus helix than average.	http://purl.obolibrary.org/obo/HP_0009898	hposlim_core	Hypoplasia of the crus of the ear|Underdeveloped crus of the ear
OBO:HP_0009899	Prominent crus of helix	biolink:OntologyClass	hp	UMLS:C4021377	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.	http://purl.obolibrary.org/obo/HP_0009899	hposlim_core	Abnormal prominence of the crus of the ear|Helix, crus, prominent|Hyperplastic helix crus|Hypertrophic helix crus
OBO:HP_0009900	Unilateral deafness	biolink:OntologyClass	hp	MSH:D046088|SNOMEDCT_US:162342008|UMLS:C2607947	A unilateral absence of sensory perception of sound.	http://purl.obolibrary.org/obo/HP_0009900		Deafness in one ear|Deafness, unilateral
OBO:HP_0009901	Crumpled ear	biolink:OntologyClass	hp	UMLS:C4024166	Distortion of the course of the normal folds of the ear and the appearance of supernumerary crura and folds.	http://purl.obolibrary.org/obo/HP_0009901	hposlim_core	Crumpled ear
OBO:HP_0009902	Cleft helix	biolink:OntologyClass	hp	UMLS:C4021376	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.	http://purl.obolibrary.org/obo/HP_0009902	hposlim_core	Notched helix|Notching of the ear helix
OBO:HP_0009903	Conjunctival nodule	biolink:OntologyClass	hp	SNOMEDCT_US:428477002|UMLS:C1996949	Presence of nodules in the conjunctiva of the eye.	http://purl.obolibrary.org/obo/HP_0009903	hposlim_core	
OBO:HP_0009904	Prominent ear helix	biolink:OntologyClass	hp	UMLS:C4020776|UMLS:C4024165	Abnormally prominent ear helix.	http://purl.obolibrary.org/obo/HP_0009904		Large helix
OBO:HP_0009905	Thin ear helix	biolink:OntologyClass	hp	UMLS:C4024164	Decreased thickness of the helix of the ear.	http://purl.obolibrary.org/obo/HP_0009905	hposlim_core	
OBO:HP_0009906	Aplasia/Hypoplasia of the earlobes	biolink:OntologyClass	hp	UMLS:C1851792	Absence or underdevelopment of the ear lobes.	http://purl.obolibrary.org/obo/HP_0009906		Absent/small ear lobes|Absent/underdeveloped ear lobes
OBO:HP_0009907	Attached earlobe	biolink:OntologyClass	hp	UMLS:C4021375	Attachment of the lobe to the side of the face at the lowest point of the lobe without curving upward.	http://purl.obolibrary.org/obo/HP_0009907	hposlim_core	Attached earlobe|Adherent earlobe
OBO:HP_0009908	Anterior creases of earlobe	biolink:OntologyClass	hp	UMLS:C1851897	Sharply demarcated, typically linear and approximately horizontal, indentations in the outer surface of the ear lobe.	http://purl.obolibrary.org/obo/HP_0009908	hposlim_core	Earlobe crease|Transverse earlobe creases
OBO:HP_0009909	Uplifted earlobe	biolink:OntologyClass	hp	UMLS:C1856117	An abnormal orientation of the earlobes such that they point out- and upward. That is, the lateral surface of ear lobe faces superiorly.	http://purl.obolibrary.org/obo/HP_0009909	hposlim_core	Lobe, uplifted|Uplifted earlobe|Upturned earlobe|Uplifted earlobes|Upturned earlobes|Fleshy upturned lobules
OBO:HP_0009910	Aplasia of the middle ear ossicles	biolink:OntologyClass	hp	UMLS:C4021374	Absence of the middle ear ossicles, malleus, incus, and stapes.	http://purl.obolibrary.org/obo/HP_0009910		Absent middle ear bones|Absent middle ear ossicles
OBO:HP_0009911	Abnormal temporal bone morphology	biolink:OntologyClass	hp	UMLS:C4024163	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.	http://purl.obolibrary.org/obo/HP_0009911	hposlim_core	Abnormality of the temporal bone
OBO:HP_0009912	Abnormality of the tragus	biolink:OntologyClass	hp	UMLS:C4024162	An abnormality of the tragus.	http://purl.obolibrary.org/obo/HP_0009912		
OBO:HP_0009913	Aplasia/Hypoplasia of the tragus	biolink:OntologyClass	hp	UMLS:C4024161	Aplasia or developmental hypoplasia of the tragus.	http://purl.obolibrary.org/obo/HP_0009913		Absent/small tragus|Absent/underdeveloped tragus
OBO:HP_0009914	Cyclopia	biolink:OntologyClass	hp	MSH:C562573|SNOMEDCT_US:205798005|UMLS:C0266667	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.	http://purl.obolibrary.org/obo/HP_0009914	hposlim_core	Cyclops eye|Single central eye
OBO:HP_0009915	Corneal asymmetry	biolink:OntologyClass	hp	UMLS:C4021373	The presence of a size difference between the left and right cornea.	http://purl.obolibrary.org/obo/HP_0009915	hposlim_core	Asymmetry of the corneas
OBO:HP_0009916	Anisocoria	biolink:OntologyClass	hp	MSH:D015875|SNOMEDCT_US:13045009|UMLS:C0003079	Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease.	http://purl.obolibrary.org/obo/HP_0009916	hposlim_core	Asymmetric pupil sizes|Asymmetry of the pupils|Unequal pupil size|Unequal pupil dilatation
OBO:HP_0009917	Persistent pupillary membrane	biolink:OntologyClass	hp	SNOMEDCT_US:95500008|UMLS:C0344541	The presence of remnants of a fetal membrane that persist as strands of tissue crossing the pupil.	http://purl.obolibrary.org/obo/HP_0009917		
OBO:HP_0009918	Ectopia pupillae	biolink:OntologyClass	hp	MSH:C536185|SNOMEDCT_US:193523008|SNOMEDCT_US:392461003|UMLS:C1271219	A malposition of the pupil owing to a developmental defect of the iris.	http://purl.obolibrary.org/obo/HP_0009918	hposlim_core	Displaced pupil|Corectopia
OBO:HP_0009919	Retinoblastoma	biolink:OntologyClass	hp	MSH:D012175|MSH:D019572|NCIT:C7541|SNOMEDCT_US:127002001|SNOMEDCT_US:19906005|SNOMEDCT_US:370967009|UMLS:C0035335|UMLS:C0524801	A tumor of the eye originating from cells of the retina.	http://purl.obolibrary.org/obo/HP_0009919		Retina tumor
OBO:HP_0009920	Nevus of Ota	biolink:OntologyClass	hp	MSH:D009507|SNOMEDCT_US:254817005|SNOMEDCT_US:414929001|UMLS:C0027961	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.	http://purl.obolibrary.org/obo/HP_0009920		Naevus fuscoceruleus ophthalmomaxillaris|Congenital melanosis bulbi|Nevus fuscoceruleus ophthalmomaxillaris|Oculodermal melanocytosis
OBO:HP_0009921	Duane anomaly	biolink:OntologyClass	hp	MSH:D004370|SNOMEDCT_US:60318001|UMLS:C0013261|UMLS:C1846464|UMLS:C4072873	A condition associated with a limitation of the horizontal ocular movement with retraction of the globe and narrowing of the palpebral fissure on adduction	http://purl.obolibrary.org/obo/HP_0009921	hposlim_core	Limited eye motility from Duane anomaly|Limited eye movement from Duane anomaly|Globe retraction and deviation on adduction
OBO:HP_0009922	Vascular remnant arising from the disc	biolink:OntologyClass	hp	UMLS:C4024160	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.	http://purl.obolibrary.org/obo/HP_0009922		Persistence of the hyaloid artery|Persistent hyaloid artery
OBO:HP_0009924	Aplasia/Hypoplasia involving the nose	biolink:OntologyClass	hp	SNOMEDCT_US:204519007|SNOMEDCT_US:93278002|UMLS:C0685684|UMLS:C4024159|UMLS:C4280392	Underdevelopment or absence of the nose or parts thereof.	http://purl.obolibrary.org/obo/HP_0009924		Decreased nasal size|Decreased size of nose|Hypoplasia of the nose|Hypotrophic nose
OBO:HP_0009926	Epiphora	biolink:OntologyClass	hp	MSH:D007766|SNOMEDCT_US:193982009|SNOMEDCT_US:418035005|UMLS:C0152227	Abnormally increased lacrimation, that is, excessive tearing (watering eye).	http://purl.obolibrary.org/obo/HP_0009926	hposlim_core	Increased tears|Tearing|Watery eyes|Increased lacrimation
OBO:HP_0009927	Aplasia of the nose	biolink:OntologyClass	hp	MSH:C537438|SNOMEDCT_US:111317000|UMLS:C0265740|UMLS:C4280391	Complete absence of all nasal structures.	http://purl.obolibrary.org/obo/HP_0009927	hposlim_core	Absent nose|Failure of development of nose|Nasal underdevelopment|Underdevelopment of nose|Missing nose|Arrhinia
OBO:HP_0009928	Thick nasal alae	biolink:OntologyClass	hp	UMLS:C1844809	Increase in bulk of the ala nasi.	http://purl.obolibrary.org/obo/HP_0009928	hposlim_core	Ala nasi, thick|Thickening of the alae nasi
OBO:HP_0009929	Abnormality of the columella	biolink:OntologyClass	hp	UMLS:C4024158	An abnormality of the columella.	http://purl.obolibrary.org/obo/HP_0009929		Anomaly of the columella|Deformity of the columella|Malformation of the columella
OBO:HP_0009930	Asymmetry of the nares	biolink:OntologyClass	hp	UMLS:C4024157	Asymmetry or size difference between the left and right nostril.	http://purl.obolibrary.org/obo/HP_0009930	hposlim_core	Asymmetry of nostrils|Crooked nostrils|Unequal nostril shape|Unequal nostril size|Uneven nostril shape|Uneven nostril size
OBO:HP_0009931	Enlarged naris	biolink:OntologyClass	hp	SNOMEDCT_US:399353008|UMLS:C0426440	Increased aperture of the nostril.	http://purl.obolibrary.org/obo/HP_0009931	hposlim_core	Broad nostril|Dilated nostril|Enlarged nostril|Wide nares|Wide nostril|Dilated nares|Enlarged nares|Increased diameter of nares|Increased diameter of nostril|Increased width of nares|Large nares|Naris, broad|Naris, enlarged
OBO:HP_0009932	Single naris	biolink:OntologyClass	hp	SNOMEDCT_US:95266003|UMLS:C0685682	The presence of only a single nostril.	http://purl.obolibrary.org/obo/HP_0009932	hposlim_core	Mono nostril|One nostril|Single nostril|Single nare
OBO:HP_0009933	Narrow naris	biolink:OntologyClass	hp	SNOMEDCT_US:249336003|SNOMEDCT_US:249339005|UMLS:C0426436|UMLS:C0426439|UMLS:C1849366|UMLS:C4280390	Slender, slit-like aperture of the nostril.	http://purl.obolibrary.org/obo/HP_0009933	hposlim_core	Narrow nostrils|Slit-like nostrils|Small nostrils|Thin nostrils|Collapsed nostrils|Naris, narrow|Naris, slit-like|Narrow nares|Thin nares
OBO:HP_0009934	Supernumerary naris	biolink:OntologyClass	hp	UMLS:C4021372	The presence of more than two nostrils.	http://purl.obolibrary.org/obo/HP_0009934	hposlim_core	Extra nostril|Accessory nares|Accessory nostril|Supernumerary nares|Supernumerary nostrils
OBO:HP_0009935	Aplasia/Hypoplasia of the nasal septum	biolink:OntologyClass	hp	UMLS:C4024156	Absence or underdevelopment of the nasal septum.	http://purl.obolibrary.org/obo/HP_0009935		Underdevelopment of nasal septum|Failure of development of nasal septum|Ageneis of nasal septum
OBO:HP_0009936	Narrow nasal septum	biolink:OntologyClass	hp	UMLS:C4024155	Abnormally narrow nasal septum.	http://purl.obolibrary.org/obo/HP_0009936	hposlim_core	Decreased width of nasal septum|Narrow nasal septum|Narrow septum of nose|Thin nasal septum|Thin septum of nose
OBO:HP_0009937	Facial hirsutism	biolink:OntologyClass	hp	UMLS:C1850041|UMLS:C2128203	Excess facial hair.	http://purl.obolibrary.org/obo/HP_0009937		Excessive face hair
OBO:HP_0009938	Sunken cheeks	biolink:OntologyClass	hp	UMLS:C4024154	Lack or loss of the soft tissues between the zygomata and mandible.	http://purl.obolibrary.org/obo/HP_0009938	hposlim_core	Depressed cheeks|Hollow cheeks|Sunken cheeks
OBO:HP_0009939	Mandibular aplasia	biolink:OntologyClass	hp	SNOMEDCT_US:91896009|SNOMEDCT_US:91922000|UMLS:C0685775|UMLS:C0685776|UMLS:C4021371	Absence of the mandible.	http://purl.obolibrary.org/obo/HP_0009939		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
OBO:HP_0009940	Asymmetry of the mandible	biolink:OntologyClass	hp	SNOMEDCT_US:235082006|UMLS:C0399518|UMLS:C4082201	Lack of symmetry between the left and right mandible.	http://purl.obolibrary.org/obo/HP_0009940	hposlim_core	Asymmetry of lower jaw|Crooked lower jaw|Lower jaw shifted to one side|Tilted lower jaw|Uneven lower jaw|Deviation of the lower jaw|Tilted mandible|Canted lower jaw|Canted mandible|Deviation of lower jaw|Deviation of mandible|Uneven mandible|Deviation of the mandible
OBO:HP_0009941	Asymmetry of the mouth	biolink:OntologyClass	hp	UMLS:C4024153	The presence of an asymmetric mouth.	http://purl.obolibrary.org/obo/HP_0009941	hposlim_core	Asymmetry of the mouth|Crooked mouth|Tilted mouth|Uneven mouth|Canted mouth|Asymmetry of oral cavity
OBO:HP_0009942	Duplication of thumb phalanx	biolink:OntologyClass	hp	UMLS:C4021370	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.	http://purl.obolibrary.org/obo/HP_0009942		Complete/partial duplication of phalanges of the thumb|Duplicated thumbs|Duplication of phalanx of thumb|Duplicated thumb
OBO:HP_0009943	Complete duplication of thumb phalanx	biolink:OntologyClass	hp	UMLS:C3554724	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.	http://purl.obolibrary.org/obo/HP_0009943		Complete duplication of thumb bones|Complete duplication of the phalanges of the thumb|Digitalization of thumb|Digitalization of thumbs
OBO:HP_0009944	Partial duplication of thumb phalanx	biolink:OntologyClass	hp	UMLS:C4082168	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.	http://purl.obolibrary.org/obo/HP_0009944		Partial duplication of the thumb bones|Bifid thumb|Notching of thumb phalanges|Partial duplication of the phalanges of the thumb
OBO:HP_0009945	Duplication of phalanx of 2nd finger	biolink:OntologyClass	hp	UMLS:C4021369	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.	http://purl.obolibrary.org/obo/HP_0009945		Duplication of the bones of index finger|Partial/complete duplication of phalanges of the 2nd finger
OBO:HP_0009946	Polydactyly affecting the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024152		http://purl.obolibrary.org/obo/HP_0009946		Extra index finger
OBO:HP_0009947	Duplication of the proximal phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4021368	Partial or complete duplication of the second proximal phalanx of hand.	http://purl.obolibrary.org/obo/HP_0009947		Duplication of the proximal bones of the index finger|Partial/complete duplication of the proximal phalanx of the 2nd finger
OBO:HP_0009948	Duplication of the distal phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4021367	Partial or complete duplication of the distal phalanx of index finger.	http://purl.obolibrary.org/obo/HP_0009948		Partial/complete duplication of the outermost bone of the index finger|Partial/complete duplication of the distal phalanx of the 2nd finger
OBO:HP_0009949	Duplication of the middle phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4021366	Partial or complete duplication of the middle phalanx of index finger.	http://purl.obolibrary.org/obo/HP_0009949		Partial/complete duplication of the middle bones of the index finger|Partial/complete duplication of the middle phalanx of the 2nd finger
OBO:HP_0009950	Complete duplication of the distal phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024151	Complete duplication of the distal phalanx of index finger.	http://purl.obolibrary.org/obo/HP_0009950		Complete duplication of the outermost bone of the index finger
OBO:HP_0009951	Partial duplication of the distal phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4021365	Partial duplication of the distal phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx.	http://purl.obolibrary.org/obo/HP_0009951		Notched outermost bone of the index finger|Partial duplication of the outermost bone of the 2nd finger|Bifid terminal phalanx of the 2nd finger
OBO:HP_0009952	Complete duplication of the middle phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024150	Complete duplication of the middle phalanx of index finger.	http://purl.obolibrary.org/obo/HP_0009952		Complete duplication of the middle bone of the index finger
OBO:HP_0009953	Partial duplication of the middle phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024149	Partial duplication of the middle phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx.	http://purl.obolibrary.org/obo/HP_0009953		Partial duplication of the middle bone of the index finger
OBO:HP_0009954	Complete duplication of the proximal phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024148	Complete duplication of the second proximal phalanx of hand.	http://purl.obolibrary.org/obo/HP_0009954		Complete duplication of the proximal bone of the index finger
OBO:HP_0009955	Partial duplication of the proximal phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024147	Partial duplication of the second proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.	http://purl.obolibrary.org/obo/HP_0009955		Partial duplication of the proximal bones of the index finger
OBO:HP_0009956	Partial duplication of the phalanges of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024146	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.	http://purl.obolibrary.org/obo/HP_0009956		Partial duplication of the bones of the index finger
OBO:HP_0009957	Complete duplication of the phalanges of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4024145	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.	http://purl.obolibrary.org/obo/HP_0009957		Complete duplication of the bones of the index finger
OBO:HP_0009958	Polydactyly affecting the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024144		http://purl.obolibrary.org/obo/HP_0009958		Extra middle finger
OBO:HP_0009959	Duplication of phalanx of 3rd finger	biolink:OntologyClass	hp	UMLS:C4021364	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.	http://purl.obolibrary.org/obo/HP_0009959		Duplication of middle finger bone|Partial/complete duplication of phalanges of the 3rd finger
OBO:HP_0009960	Complete duplication of the phalanges of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024143	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.	http://purl.obolibrary.org/obo/HP_0009960		Complete duplication of middle finger bones
OBO:HP_0009961	Partial duplication of the phalanges of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024142	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.	http://purl.obolibrary.org/obo/HP_0009961		Partial duplication of middle finger bones
OBO:HP_0009962	Duplication of the distal phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4021363	Partial or complete duplication of the distal phalanx of middle finger.	http://purl.obolibrary.org/obo/HP_0009962		Partial/complete duplication of the outermost bone of the middle finger|Partial/complete duplication of the distal phalanx of the 3rd finger
OBO:HP_0009963	Duplication of the middle phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4021362	Partial or complete duplication of the middle phalanx of middle finger.	http://purl.obolibrary.org/obo/HP_0009963		Duplication of the middle bone of the middle finger|Partial/complete duplication of the middle phalanx of the 3rd finger
OBO:HP_0009964	Duplication of the proximal phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4021361	Partial or complete duplication of the third proximal phalanx of hand.	http://purl.obolibrary.org/obo/HP_0009964		Duplication of the proximal bone of the middle finger|Partial/complete duplication of the proximal phalanx of the 3rd finger
OBO:HP_0009965	Complete duplication of the distal phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024141	Complete duplication of the distal phalanx of middle finger	http://purl.obolibrary.org/obo/HP_0009965		Complete duplication of the outermost bone of the 3rd finger
OBO:HP_0009966	Complete duplication of the middle phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024140	Complete duplication of the middle phalanx of middle finger.	http://purl.obolibrary.org/obo/HP_0009966		Complete duplication of the middle bone of the middle finger
OBO:HP_0009967	Complete duplication of the proximal phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024139	Complete duplication of the third proximal phalanx of hand.	http://purl.obolibrary.org/obo/HP_0009967		Complete duplication of the innermost bone of the 3rd finger
OBO:HP_0009968	Partial duplication of the distal phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4021360	Partial duplication of the distal phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx.	http://purl.obolibrary.org/obo/HP_0009968		Notched outermost bone of the middle finger|Partial duplication of the outermost bone of the middle finger|Bifid terminal phalanx of the 3rd finger
OBO:HP_0009969	Partial duplication of the middle phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024138	Partial duplication of the middle phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx.	http://purl.obolibrary.org/obo/HP_0009969		Partial duplication of the middle bone of the 3rd finger
OBO:HP_0009970	Partial duplication of the proximal phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4024137	Partial duplication of the third proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.	http://purl.obolibrary.org/obo/HP_0009970		Partial duplication of the proximal bone of the middle finger
OBO:HP_0009971	Polydactyly affecting the 4th finger	biolink:OntologyClass	hp	UMLS:C4024136		http://purl.obolibrary.org/obo/HP_0009971		Extra ring finger
OBO:HP_0009972	Duplication of phalanx of 4th finger	biolink:OntologyClass	hp	UMLS:C4021359	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.	http://purl.obolibrary.org/obo/HP_0009972		Duplication of bones of the ring finger|Partial/complete duplication of phalanges of the 4th finger
OBO:HP_0009973	Complete duplication of the phalanges of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024135	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.	http://purl.obolibrary.org/obo/HP_0009973		Complete duplication of the bones of the ring finger
OBO:HP_0009974	Partial duplication of the phalanges of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024134	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.	http://purl.obolibrary.org/obo/HP_0009974		Partial duplication of the bones of the ring finger
OBO:HP_0009975	Duplication of the distal phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4021358	Partial or complete duplication of the distal phalanx of ring finger.	http://purl.obolibrary.org/obo/HP_0009975		Partial/complete duplication of the outermost bone of the ring finger|Partial/complete duplication of the distal phalanx of the 4th finger
OBO:HP_0009976	Duplication of the middle phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4021357	Partial or complete duplication of the middle phalanx of ring finger.	http://purl.obolibrary.org/obo/HP_0009976		Partial/complete duplication of the middle bone of the ring finger|Partial/complete duplication of the middle phalanx of the 4th finger
OBO:HP_0009977	Duplication of the proximal phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4021356	Partial or complete duplication of the fourth proximal phalanx of hand.	http://purl.obolibrary.org/obo/HP_0009977		Duplication of the proximal bone of the ring finger|Partial/complete duplication of the proximal phalanx of the 4th finger
OBO:HP_0009978	Complete duplication of the distal phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024133	Complete duplication of the distal phalanx of ring finger.	http://purl.obolibrary.org/obo/HP_0009978		Complete duplication of the outermost bone of the ring finger
OBO:HP_0009979	Complete duplication of the middle phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024132	Complete duplication of the middle phalanx of ring finger.	http://purl.obolibrary.org/obo/HP_0009979		Complete duplication of the middle bone of the ring finger
OBO:HP_0009980	Complete duplication of the proximal phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024131	Complete duplication of the fourth proximal phalanx of hand.	http://purl.obolibrary.org/obo/HP_0009980		Complete duplication of the proximal bone of the ring finger
OBO:HP_0009981	Partial duplication of the distal phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4021355	Partial duplication of the distal phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx.	http://purl.obolibrary.org/obo/HP_0009981		Notched outermost bone of the ring finger|Partial duplication of the outermost bone of the ring finger|Bifid terminal phalanx of the 4th finger
OBO:HP_0009982	Partial duplication of the middle phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024130	Partial duplication of the middle phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx.	http://purl.obolibrary.org/obo/HP_0009982		Partial duplication of the middle bone of the ring finger
OBO:HP_0009983	Partial duplication of the proximal phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4024129	Partial duplication of the fourth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.	http://purl.obolibrary.org/obo/HP_0009983		Partial duplication of the innermost bone of the ring finger
OBO:HP_0009985	Duplication of phalanx of 5th finger	biolink:OntologyClass	hp	UMLS:C4021354	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.	http://purl.obolibrary.org/obo/HP_0009985		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
OBO:HP_0009986	Complete duplication of the phalanges of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024128	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.	http://purl.obolibrary.org/obo/HP_0009986		Complete duplication of the little finger bone|Complete duplication of the pinkie finger bone|Complete duplication of the pinky finger bone
OBO:HP_0009987	Partial duplication of the phalanges of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024127	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.	http://purl.obolibrary.org/obo/HP_0009987		Partial duplication of the little finger bone|Partial duplication of the pinkie finger bone|Partial duplication of the pinky finger bone
OBO:HP_0009988	Duplication of the distal phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4021353	Partial or complete duplication of the distal phalanx of little finger.	http://purl.obolibrary.org/obo/HP_0009988		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
OBO:HP_0009989	Duplication of the middle phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4021352	Partial or complete duplication of the fifth middle phalanx of hand.	http://purl.obolibrary.org/obo/HP_0009989		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
OBO:HP_0009990	Duplication of the proximal phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4021351	Partial or complete duplication of the fifth proximal phalanx of hand.	http://purl.obolibrary.org/obo/HP_0009990		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
OBO:HP_0009991	Complete duplication of the distal phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024126	Complete duplication of the distal phalanx of little finger.	http://purl.obolibrary.org/obo/HP_0009991		Complete duplication of the outermost little finger bone|Complete duplication of the outermost pinkie finger bone|Complete duplication of the outermost pinky finger bone
OBO:HP_0009992	Complete duplication of the middle phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024125	Complete duplication of the fifth middle phalanx of hand.	http://purl.obolibrary.org/obo/HP_0009992		Complete duplication of the middle little finger bone|Complete duplication of the middle pinkie finger bone|Complete duplication of the middle pinky finger bone
OBO:HP_0009993	Complete duplication of the proximal phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024124	Complete duplication of the fifth proximal phalanx of hand.	http://purl.obolibrary.org/obo/HP_0009993		Complete duplication of the innermost little finger bone|Complete duplication of the innermost pinkie finger bone|Complete duplication of the innermost pinky finger bone
OBO:HP_0009994	Partial duplication of the distal phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4021350	Partial duplication of the distal phalanx of little finger, seen on x-rays as a broad and/or bifid phalanx.	http://purl.obolibrary.org/obo/HP_0009994		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
OBO:HP_0009995	Partial duplication of the middle phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024123	Partial duplication of the fifth middle phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.	http://purl.obolibrary.org/obo/HP_0009995		Partial duplication of the middle little finger bone|Partial duplication of the middle pinkie finger bone|Partial duplication of the middle pinky finger bone
OBO:HP_0009996	Partial duplication of the proximal phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4024122	Partial or complete duplication of the fifth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.	http://purl.obolibrary.org/obo/HP_0009996		Partial duplication of the innermost little finger bone|Partial duplication of the innermost pinkie finger bone|Partial duplication of the innermost pinky finger bone
OBO:HP_0009997	Duplication of phalanx of hand	biolink:OntologyClass	hp	UMLS:C4021349	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.	http://purl.obolibrary.org/obo/HP_0009997		Duplication of finger bones
OBO:HP_0009998	Complete duplication of phalanx of hand	biolink:OntologyClass	hp	UMLS:C4024121	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.	http://purl.obolibrary.org/obo/HP_0009998		Complete duplication of hand bones
OBO:HP_0009999	Partial duplication of the phalanx of hand	biolink:OntologyClass	hp	UMLS:C4024120	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.	http://purl.obolibrary.org/obo/HP_0009999		Partial duplication of hand bones
OBO:HP_0010000	Complete duplication of the proximal phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4024119	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.	http://purl.obolibrary.org/obo/HP_0010000		Complete duplication of the innermost bones of the hand
OBO:HP_0010001	Complete duplication of the distal phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4024118	A complete duplication affecting one or more of the distal phalanges of the hand.	http://purl.obolibrary.org/obo/HP_0010001		Complete duplication of the outermost bones of the hand
OBO:HP_0010002	Complete duplication of the middle phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4024117	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.	http://purl.obolibrary.org/obo/HP_0010002		Complete duplication of the middle bones of the hand
OBO:HP_0010003	Partial duplication of the proximal phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4024116	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.	http://purl.obolibrary.org/obo/HP_0010003		Partial duplication of the innermost bones of the hand
OBO:HP_0010004	Partial duplication of the distal phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4021348	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.	http://purl.obolibrary.org/obo/HP_0010004		Partial duplication of the outermost bone of the hand|Bifid terminal phalanges of the hand
OBO:HP_0010005	Partial duplication of the middle phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4024115	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.	http://purl.obolibrary.org/obo/HP_0010005		Partial duplication of the middle bones of hand
OBO:HP_0010006	Duplication of the proximal phalanx of hand	biolink:OntologyClass	hp	UMLS:C4021347	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.	http://purl.obolibrary.org/obo/HP_0010006		Duplication of the innermost bones of hand|Partial/complete duplication of the proximal phalanges of the hand
OBO:HP_0010008	Duplication of the middle phalanx of hand	biolink:OntologyClass	hp	UMLS:C4021346	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.	http://purl.obolibrary.org/obo/HP_0010008		Duplication of the middle bones of hand|Partial/complete duplication of the middle phalanges of the hand
OBO:HP_0010009	Abnormality of the 1st metacarpal	biolink:OntologyClass	hp	UMLS:C4024114	A structural anomaly of the first metacarpal.	http://purl.obolibrary.org/obo/HP_0010009		Abnormality of the 1st long bone of hand
OBO:HP_0010010	Abnormality of the 2nd metacarpal	biolink:OntologyClass	hp	UMLS:C4024113	Any abnormality of the second metacarpal bone.	http://purl.obolibrary.org/obo/HP_0010010		Abnormality of the 2nd long bone of hand
OBO:HP_0010011	Abnormality of the 3rd metacarpal	biolink:OntologyClass	hp	UMLS:C4024112	Any abnormality of the third metacarpal bone.	http://purl.obolibrary.org/obo/HP_0010011		Abnormality of the 3rd long bone of hand
OBO:HP_0010012	Abnormality of the 4th metacarpal	biolink:OntologyClass	hp	UMLS:C4024111	Any abnormality of the fourth metacarpal bone.	http://purl.obolibrary.org/obo/HP_0010012		Abnormality of the 4th long bone of hand
OBO:HP_0010013	Abnormality of the 5th metacarpal	biolink:OntologyClass	hp	UMLS:C4024110	Any abnormality of the fifth metacarpal bone.	http://purl.obolibrary.org/obo/HP_0010013		Abnormality of the 5th long bone of hand
OBO:HP_0010014	Abnormality of the epiphysis of the 1st metacarpal	biolink:OntologyClass	hp	UMLS:C4024109	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.	http://purl.obolibrary.org/obo/HP_0010014		Abnormality of the end part of the 1st long bone of hand
OBO:HP_0010015	Absent epiphysis of the 1st metacarpal	biolink:OntologyClass	hp	UMLS:C4024108		http://purl.obolibrary.org/obo/HP_0010015		Absent end part of the 1st long bone of hand
OBO:HP_0010016	Bracket epiphysis of the 1st metacarpal	biolink:OntologyClass	hp	UMLS:C4024107	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.	http://purl.obolibrary.org/obo/HP_0010016		Bracket shaped end part of 1st long bone of hand
OBO:HP_0010017	Cone-shaped epiphysis of the 1st metacarpal	biolink:OntologyClass	hp	UMLS:C4024106	A cone-shaped appearance of the epiphysis of the 1st metacarpal, producing a 'ball-in-a-socket' appearance.	http://purl.obolibrary.org/obo/HP_0010017		Cone-shaped end part of the 1st long bone of hand
OBO:HP_0010018	Enlarged epiphysis of the 1st metacarpal	biolink:OntologyClass	hp	UMLS:C4024105	Abnormally large size of the epiphyses of the 1st metacarpal with respect to age-dependent norms.	http://purl.obolibrary.org/obo/HP_0010018		Enlarged end part of the 1st long bone of hand
OBO:HP_0010019	Fragmentation of the epiphysis of the 1st metacarpal	biolink:OntologyClass	hp	UMLS:C4024104	Epiphysis of the 1st metacarpal having multiple bony fragments.	http://purl.obolibrary.org/obo/HP_0010019		Fragmentation of the end part of the 1st long bone of hand
OBO:HP_0010020	Irregular epiphysis of the 1st metacarpal	biolink:OntologyClass	hp	UMLS:C4024103	Uneven radiographic opacity of the epiphysis of the 1st metacarpal.	http://purl.obolibrary.org/obo/HP_0010020		Irregular end part of the 1st long bone of hand
OBO:HP_0010021	Ivory epiphysis of the 1st metacarpal	biolink:OntologyClass	hp	UMLS:C4024102	The epiphysis of the 1st metacarpal are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.	http://purl.obolibrary.org/obo/HP_0010021		Increased bone density of end part of the 1st long bone of hand
OBO:HP_0010022	Pseudoepiphysis of the 1st metacarpal	biolink:OntologyClass	hp	UMLS:C4024101	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.	http://purl.obolibrary.org/obo/HP_0010022		
OBO:HP_0010023	Small epiphysis of the 1st metacarpal	biolink:OntologyClass	hp	UMLS:C4024100	Abnormally small size of the epiphysis of the 1st metacarpal with respect to age-dependent norms.	http://purl.obolibrary.org/obo/HP_0010023		Small end part of the 1st long bone of hand
OBO:HP_0010024	Epiphyseal stippling of the first metacarpal	biolink:OntologyClass	hp	UMLS:C4021345	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the first metacarpal bone.	http://purl.obolibrary.org/obo/HP_0010024		Speckled calcifications in the end part of the first long bone of hand|Stippling of the epiphysis of the 1st metacarpal
OBO:HP_0010025	Triangular epiphysis of the 1st metacarpal	biolink:OntologyClass	hp	UMLS:C4024099		http://purl.obolibrary.org/obo/HP_0010025		Triangular end part of the 1st long bone of hand
OBO:HP_0010026	Aplasia/Hypoplasia of the 1st metacarpal	biolink:OntologyClass	hp	UMLS:C4024098	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).	http://purl.obolibrary.org/obo/HP_0010026		Absent/small 1st long bone of hand|Absent/underdeveloped 1st long bone of hand
OBO:HP_0010027	Broad 1st metacarpal	biolink:OntologyClass	hp	UMLS:C4024097	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.	http://purl.obolibrary.org/obo/HP_0010027		Wide 1st long bone of hand
OBO:HP_0010028	Bullet-shaped 1st metacarpal	biolink:OntologyClass	hp	UMLS:C4024096	The presence of short and wide 1st metacarpal which tapers distally ("bullet shaped").	http://purl.obolibrary.org/obo/HP_0010028		Bullet-shaped 1st long bone of hand
OBO:HP_0010029	Curved 1st metacarpal	biolink:OntologyClass	hp	UMLS:C4024095	A deviation from the normal straight shape of the first metacarpal.	http://purl.obolibrary.org/obo/HP_0010029		Curved 1st long bone of hand
OBO:HP_0010030	Osteolytic defects of the 1st metacarpal	biolink:OntologyClass	hp	UMLS:C4024094	Dissolution or degeneration of bone tissue of the 1st metacarpal.	http://purl.obolibrary.org/obo/HP_0010030		
OBO:HP_0010031	Patchy sclerosis of the 1st metacarpal	biolink:OntologyClass	hp	UMLS:C4024093	Uneven increase in bone density within the 1st metacarpal.	http://purl.obolibrary.org/obo/HP_0010031		Uneven increase in bone density in 1st long bone of hand
OBO:HP_0010033	Triangular shaped 1st metacarpal	biolink:OntologyClass	hp	UMLS:C4024092	This term applies to a triangular shaped 1st metacarpal.	http://purl.obolibrary.org/obo/HP_0010033		Triangular shaped 1st long bone of hand
OBO:HP_0010034	Short 1st metacarpal	biolink:OntologyClass	hp	UMLS:C1849311	A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand.	http://purl.obolibrary.org/obo/HP_0010034	hposlim_core	Shortened 1st long bone of hand|First metacarpal hypoplasia|First metacarpals hypoplastic|Hypoplastic 1st metacarpal|Short first metacarpal|Short first metacarpals
OBO:HP_0010035	Aplasia of the 1st metacarpal	biolink:OntologyClass	hp	UMLS:C1838610	Absent first metacarpal (long bone) of the hand.	http://purl.obolibrary.org/obo/HP_0010035		Absent 1st long bone of hand|Absent first metacarpal
OBO:HP_0010036	Aplasia/Hypoplasia of the 2nd metacarpal	biolink:OntologyClass	hp	UMLS:C4024091	Aplasia or Hypoplasia affecting the 2nd metacarpal.	http://purl.obolibrary.org/obo/HP_0010036		Absent/small 2nd long bone of hand|Absent/underdeveloped 2nd long bone of hand
OBO:HP_0010037	Aplasia of the 2nd metacarpal	biolink:OntologyClass	hp	UMLS:C4024090	Absence of the second long bone of the hand.	http://purl.obolibrary.org/obo/HP_0010037		Absent 2nd long bone of hand
OBO:HP_0010038	Short 2nd metacarpal	biolink:OntologyClass	hp	UMLS:C1969397|UMLS:C4020774	Short second metacarpal bone because of developmental hypoplasia.	http://purl.obolibrary.org/obo/HP_0010038		Shortened 2nd long bone of hand|Rudimentary 2nd metacarpal|Hypoplastic 2nd metacarpal
OBO:HP_0010039	Aplasia/Hypoplasia of the 3rd metacarpal	biolink:OntologyClass	hp	UMLS:C4024089	Aplasia or Hypoplasia affecting the 3rd metacarpal.	http://purl.obolibrary.org/obo/HP_0010039		Absent/small 3rd long bone of hand|Absent/underdeveloped 3rd long bone of hand
OBO:HP_0010040	Aplasia of the 3rd metacarpal	biolink:OntologyClass	hp	UMLS:C4024088	Absence of the third long bone of the hand.	http://purl.obolibrary.org/obo/HP_0010040		Absent 3rd long bone of hand
OBO:HP_0010041	Short 3rd metacarpal	biolink:OntologyClass	hp	UMLS:C1850631	Short third metacarpal bone.	http://purl.obolibrary.org/obo/HP_0010041		Shortened 3rd long bone of hand|Hypoplastic 3rd metacarpal|Short third metacarpals|Small 3rd metacarpals
OBO:HP_0010042	Aplasia/Hypoplasia of the 4th metacarpal	biolink:OntologyClass	hp	UMLS:C4024087	Aplasia or Hypoplasia affecting the 4th metacarpal.	http://purl.obolibrary.org/obo/HP_0010042		Absent/small 4th long bone of hand|Absent/underdeveloped 4th long bone of hand
OBO:HP_0010043	Aplasia of the 4th metacarpal	biolink:OntologyClass	hp	UMLS:C4024086	Absence of the fourth long bone of the hand.	http://purl.obolibrary.org/obo/HP_0010043		Absent 4th long bone of hand
OBO:HP_0010044	Short 4th metacarpal	biolink:OntologyClass	hp	UMLS:C1840309	Short fourth metacarpal bone.	http://purl.obolibrary.org/obo/HP_0010044		Shortened 4th long bone of hand|Hypoplastic fourth metacarpal|Short 4th metacarpals|Short fourth metacarpals
OBO:HP_0010045	Aplasia/Hypoplasia of the 5th metacarpal	biolink:OntologyClass	hp	UMLS:C4024085	Aplasia or Hypoplasia affecting the 5th metacarpal.	http://purl.obolibrary.org/obo/HP_0010045		Absent/small 5th long bone of hand|Absent/underdeveloped 5th long bone of hand
OBO:HP_0010046	Aplasia of the 5th metacarpal	biolink:OntologyClass	hp	UMLS:C1867929	Absence of the fifth long bone of the hand.	http://purl.obolibrary.org/obo/HP_0010046		Absent 5th long bone of hand|Absent 5th metacarpal
OBO:HP_0010047	Short 5th metacarpal	biolink:OntologyClass	hp	UMLS:C1861388	Short fifth metacarpal bone.	http://purl.obolibrary.org/obo/HP_0010047		Shortened 5th long bone of hand|Fifth metacarpal hypoplasia|Hypoplastic 5th metacarpal|Short fifth metacarpal|Short fifth metacarpals
OBO:HP_0010048	Aplasia of metacarpal bones	biolink:OntologyClass	hp	UMLS:C1846473	Developmental defect associated with absence of one or more metacarpal bones.	http://purl.obolibrary.org/obo/HP_0010048	hposlim_core	Absent long bone of hand|Absent metacarpal|Absent metacarpals
OBO:HP_0010049	Short metacarpal	biolink:OntologyClass	hp	UMLS:C1837084	Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.	http://purl.obolibrary.org/obo/HP_0010049	hposlim_core	Shortened long bone of hand|Brachymetacarpalia|Hypoplastic metacarpal|Metacarpal hypoplasia|Short metacarpals|Shortened long bones of hand|Shortened metacarpals|Shortening of metacarpals|Short metacarpal bones
OBO:HP_0010051	Deviation of the hallux	biolink:OntologyClass	hp	UMLS:C4021344	Displacement of the big toe from its normal position.	http://purl.obolibrary.org/obo/HP_0010051		Displacement of big toe|Displacement of the hallux
OBO:HP_0010052	Abnormal morphology of the proximal phalanx of the hallux	biolink:OntologyClass	hp	UMLS:C4024084	An abnormal shape or form of the proximal phalanx of the big toe.	http://purl.obolibrary.org/obo/HP_0010052		Abnormal innermost big toe bone|Abnormality of the proximal phalanx of the hallux
OBO:HP_0010053	Abnormality of the distal phalanx of the hallux	biolink:OntologyClass	hp	UMLS:C4024083		http://purl.obolibrary.org/obo/HP_0010053		Abnormality of the outermost bone of the big toe
OBO:HP_0010054	Abnormality of the first metatarsal bone	biolink:OntologyClass	hp	UMLS:C4024082	An anomaly of the first metatarsal bone.	http://purl.obolibrary.org/obo/HP_0010054		Abnormality of the 1st long bone of foot
OBO:HP_0010055	Broad hallux	biolink:OntologyClass	hp	UMLS:C1867131	Visible increase in width of the hallux without an increase in the dorso-ventral dimension.	http://purl.obolibrary.org/obo/HP_0010055	hposlim_core	Broad big toe|Wide big toe|Abnormally broad great toes|Broad great toe|Broad great toes|Broad halluces
OBO:HP_0010056	Abnormality of the epiphyses of the hallux	biolink:OntologyClass	hp	UMLS:C4024081		http://purl.obolibrary.org/obo/HP_0010056		Abnormality of the end part of the big toe bone
OBO:HP_0010057	Abnormality of the phalanges of the hallux	biolink:OntologyClass	hp	UMLS:C4024080		http://purl.obolibrary.org/obo/HP_0010057		Abnormal big toe bones
OBO:HP_0010058	Aplasia/Hypoplasia of the phalanges of the hallux	biolink:OntologyClass	hp	UMLS:C4024079		http://purl.obolibrary.org/obo/HP_0010058		Absent/small big toe bone|Absent/underdeveloped big toe bone
OBO:HP_0010059	Broad hallux phalanx	biolink:OntologyClass	hp	UMLS:C4021343	An increase in width in one or more phalanges of the big toe.	http://purl.obolibrary.org/obo/HP_0010059		Broad bone of big toe|Wide bone of big toe|Broad phalanges of the hallux
OBO:HP_0010060	Bullet-shaped hallux phalanx	biolink:OntologyClass	hp	UMLS:C4021342	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.	http://purl.obolibrary.org/obo/HP_0010060		Bullet-shaped bone of big toe|Bullet-shaped phalanges of the hallux
OBO:HP_0010061	Curved hallux phalanx	biolink:OntologyClass	hp	UMLS:C4021341	A deviation from the normal straight form of one or more phalanges of the big toe.	http://purl.obolibrary.org/obo/HP_0010061		Curve bones of big toe|Curved phalanges of the hallux
OBO:HP_0010062	Osteolytic defects of the phalanges of the hallux	biolink:OntologyClass	hp	UMLS:C4024078		http://purl.obolibrary.org/obo/HP_0010062		
OBO:HP_0010063	Patchy sclerosis of hallux phalanx	biolink:OntologyClass	hp	UMLS:C4021340	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.	http://purl.obolibrary.org/obo/HP_0010063		Uneven increase in bone density in big toe bone|Patchy sclerosis of the phalanges of the hallux
OBO:HP_0010064	Symphalangism affecting the phalanges of the hallux	biolink:OntologyClass	hp	UMLS:C1836216		http://purl.obolibrary.org/obo/HP_0010064		Fused big toe bones|hallucal symphalangism
OBO:HP_0010065	Triangular shaped phalanges of the hallux	biolink:OntologyClass	hp	UMLS:C4024077		http://purl.obolibrary.org/obo/HP_0010065		Triangular shaped bones of big toe
OBO:HP_0010066	Duplication of phalanx of hallux	biolink:OntologyClass	hp	UMLS:C1860164|UMLS:C4020691	Partial or complete duplication of one or more phalanx of big toe.	http://purl.obolibrary.org/obo/HP_0010066		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
OBO:HP_0010067	Aplasia/hypoplasia of the 1st metatarsal	biolink:OntologyClass	hp	UMLS:C4024076	Absence or underdevelopment of the first metatarsal bone.	http://purl.obolibrary.org/obo/HP_0010067		Absent/small 1st long bone of foot|Absent/underdeveloped 1st long bone of foot
OBO:HP_0010068	Broad first metatarsal	biolink:OntologyClass	hp	UMLS:C1855899	Increased side-to-side width of the first metatarsal bone.	http://purl.obolibrary.org/obo/HP_0010068		Wide 1st long bone of foot|Broad 1st metatarsal|Enlarged first metatarsal
OBO:HP_0010069	Bullet-shaped 1st metatarsal	biolink:OntologyClass	hp	UMLS:C4024075	An abnormal morphology of the firstmetatarsal bone, which is short and wide and tapers distally, and lacks the normal diaphyseal constriction.	http://purl.obolibrary.org/obo/HP_0010069		Bullet-shaped 1st long bone of foot
OBO:HP_0010070	Curved 1st metatarsal	biolink:OntologyClass	hp	UMLS:C4024074	A deviation from the normal straight shape of a proximal phalanx of the 1st metatarsal bone.	http://purl.obolibrary.org/obo/HP_0010070		Curved 1st long bone of foot
OBO:HP_0010071	Osteolytic defects of the 1st metatarsal	biolink:OntologyClass	hp	UMLS:C4024073	Dissolution or degeneration of bone tissue of the first metatarsal.	http://purl.obolibrary.org/obo/HP_0010071		
OBO:HP_0010072	Patchy sclerosis of the 1st metatarsal	biolink:OntologyClass	hp	UMLS:C4024072		http://purl.obolibrary.org/obo/HP_0010072		Uneven increase in bone density of the 1st long bone of foot
OBO:HP_0010073	Synostosis involving the 1st metatarsal	biolink:OntologyClass	hp	UMLS:C4024071		http://purl.obolibrary.org/obo/HP_0010073		Fusion involving the 1st long bone of foot
OBO:HP_0010074	Triangular shaped 1st metatarsal	biolink:OntologyClass	hp	UMLS:C4024070		http://purl.obolibrary.org/obo/HP_0010074		Triangular shaped 1st long bone of foot
OBO:HP_0010075	Duplication of the 1st metatarsal	biolink:OntologyClass	hp	UMLS:C1851855	A developmental defect consisting in the duplication of the first metatarsal bone.	http://purl.obolibrary.org/obo/HP_0010075		Duplicated 1st long bone of foot|Duplicated first metatarsals
OBO:HP_0010076	Aplasia/Hypoplasia of the distal phalanx of the hallux	biolink:OntologyClass	hp	UMLS:C4024069		http://purl.obolibrary.org/obo/HP_0010076		Absent/small outermost big toe bone|Absent/underdeveloped outermost big toe bone
OBO:HP_0010077	Broad distal phalanx of the hallux	biolink:OntologyClass	hp	UMLS:C4024068	An increase in width of the distal phalanx of the big toe.	http://purl.obolibrary.org/obo/HP_0010077		Broad outermost bone of big toe|Wide outermost bone of big toe
OBO:HP_0010078	Bullet-shaped distal phalanx of the hallux	biolink:OntologyClass	hp	UMLS:C4024067	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.	http://purl.obolibrary.org/obo/HP_0010078		Bullet-shaped outermost bone of big toe
OBO:HP_0010079	Curved distal phalanx of the hallux	biolink:OntologyClass	hp	UMLS:C4024066	A deviation from the normal straight form of the distal phalanx of the big toe.	http://purl.obolibrary.org/obo/HP_0010079		Curved outermost bone of big toe
OBO:HP_0010080	Osteolytic defects of the distal phalanx of the hallux	biolink:OntologyClass	hp	UMLS:C4024065		http://purl.obolibrary.org/obo/HP_0010080		
OBO:HP_0010081	Patchy sclerosis of the distal phalanx of the hallux	biolink:OntologyClass	hp	UMLS:C4024064		http://purl.obolibrary.org/obo/HP_0010081		Uneven increase in bone density in the outermost bone of big toe
OBO:HP_0010082	Symphalangism affecting the distal phalanx of the hallux	biolink:OntologyClass	hp	UMLS:C4024063		http://purl.obolibrary.org/obo/HP_0010082		Fused outermost bone of big toe
OBO:HP_0010083	Triangular shaped distal phalanx of the hallux	biolink:OntologyClass	hp	UMLS:C4024062		http://purl.obolibrary.org/obo/HP_0010083		Triangular shaped outermost bone of the big toe
OBO:HP_0010084	Duplication of the distal phalanx of the hallux	biolink:OntologyClass	hp	UMLS:C4021339		http://purl.obolibrary.org/obo/HP_0010084		Duplication of the outermost bone of big toe|Partial/complete duplication of the distal phalanx of the hallux
OBO:HP_0010085	Aplasia/Hypoplasia of the proximal phalanx of the hallux	biolink:OntologyClass	hp	UMLS:C4024061		http://purl.obolibrary.org/obo/HP_0010085		Absent/small innermost big toe bone|Absent/underdeveloped innermost big toe bone
OBO:HP_0010086	Broad proximal phalanx of the hallux	biolink:OntologyClass	hp	UMLS:C4021338	Increased width of proximal phalanx of big toe.	http://purl.obolibrary.org/obo/HP_0010086		Broad innermost bone of the big toe|Broad proximal phalanx of the big toe
OBO:HP_0010087	Bullet-shaped proximal phalanx of the hallux	biolink:OntologyClass	hp	UMLS:C4024060	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.	http://purl.obolibrary.org/obo/HP_0010087		Bullet-shaped innermost bone of the big toe
OBO:HP_0010088	Curved proximal phalanx of the hallux	biolink:OntologyClass	hp	UMLS:C4024059	A deviation from the normal straight form of the proximal phalanx of the big toe.	http://purl.obolibrary.org/obo/HP_0010088		Curved innermost bone of the big toe
OBO:HP_0010089	Osteolytic defects of the proximal phalanx of the hallux	biolink:OntologyClass	hp	UMLS:C4024058		http://purl.obolibrary.org/obo/HP_0010089		
OBO:HP_0010090	Patchy sclerosis of the proximal phalanx of the hallux	biolink:OntologyClass	hp	UMLS:C4024057		http://purl.obolibrary.org/obo/HP_0010090		Uneven increase in bone density in the innermost bone of the big toe
OBO:HP_0010091	Symphalangism affecting the proximal phalanx of the hallux	biolink:OntologyClass	hp	UMLS:C4024056		http://purl.obolibrary.org/obo/HP_0010091		Fused innermost bone of big toe
OBO:HP_0010092	Triangular shaped proximal phalanx of the hallux	biolink:OntologyClass	hp	UMLS:C4024055		http://purl.obolibrary.org/obo/HP_0010092		Triangular shaped innermost bone of big toe
OBO:HP_0010093	Duplication of the proximal phalanx of the hallux	biolink:OntologyClass	hp	UMLS:C4024054	Partial or complete duplication of the proximal phalanx of big toe.	http://purl.obolibrary.org/obo/HP_0010093		Duplication of the innermost bone of big toe
OBO:HP_0010094	Complete duplication of the proximal phalanx of the hallux	biolink:OntologyClass	hp	UMLS:C4024053	Complete duplication of the proximal phalanx of big toe.	http://purl.obolibrary.org/obo/HP_0010094		Complete duplication of the innermost bone of big toe
OBO:HP_0010095	Partial duplication of the proximal phalanx of the hallux	biolink:OntologyClass	hp	UMLS:C4024052	Partial duplication of the proximal phalanx of big toe.	http://purl.obolibrary.org/obo/HP_0010095		Partial duplication of the innermost bone of big toe
OBO:HP_0010096	Complete duplication of the distal phalanx of the hallux	biolink:OntologyClass	hp	UMLS:C4024051		http://purl.obolibrary.org/obo/HP_0010096		Complete duplication of the outermost bone of the big toe
OBO:HP_0010097	Partial duplication of the distal phalanx of the hallux	biolink:OntologyClass	hp	UMLS:C4021337		http://purl.obolibrary.org/obo/HP_0010097		Notched outermost bone of big toe|Partial duplication of the outermost bone of big toe|Bifid distal phalanx of hallux
OBO:HP_0010098	Complete duplication of the 1st metatarsal	biolink:OntologyClass	hp	UMLS:C4024050	A developmental defect consisting in the complete duplication of the first metatarsal bone.	http://purl.obolibrary.org/obo/HP_0010098		Complete duplication of the 1st long bone of foot
OBO:HP_0010099	Partial duplication of the 1st metatarsal	biolink:OntologyClass	hp	UMLS:C4024049	A developmental defect consisting in the duplication of part of the first metatarsal bone.	http://purl.obolibrary.org/obo/HP_0010099		Partial duplication of the 1st long bone of foot
OBO:HP_0010100	Complete duplication of hallux phalanx	biolink:OntologyClass	hp	UMLS:C4021336	Complete duplication of one or more phalanx of big toe.	http://purl.obolibrary.org/obo/HP_0010100		Complete duplication of big toe bones|Complete duplication of the phalanges of the hallux
OBO:HP_0010101	Partial duplication of the phalanges of the hallux	biolink:OntologyClass	hp	UMLS:C1855005		http://purl.obolibrary.org/obo/HP_0010101		Partial duplication of big toe|partial duplication of hallux
OBO:HP_0010102	Aplasia of the distal phalanx of the hallux	biolink:OntologyClass	hp	UMLS:C4024048		http://purl.obolibrary.org/obo/HP_0010102		Absent outermost bone of big toe
OBO:HP_0010103	Short distal phalanx of hallux	biolink:OntologyClass	hp	UMLS:C4021335	Underdevelopment (hypoplasia) of the distal phalanx of big toe.	http://purl.obolibrary.org/obo/HP_0010103		Small outermost bone of big toe|Hypoplastic/small distal phalanx of the hallux|Small distal phalanx of big toe|Small distal phalanx of hallux
OBO:HP_0010104	Absent first metatarsal	biolink:OntologyClass	hp	UMLS:C1863382	A developmental defect characterized by the absence of the first metatarsal bone.	http://purl.obolibrary.org/obo/HP_0010104		Absent 1st long bone of foot|Absent 1st metatarsal|Aplasia of the 1st metatarsal
OBO:HP_0010105	Short first metatarsal	biolink:OntologyClass	hp	UMLS:C1841688	Short first metatarsal bone.	http://purl.obolibrary.org/obo/HP_0010105		Short 1st long bone of foot|First metatarsal hypoplasia|First metatarsals hypoplastic
OBO:HP_0010106	Aplasia of the proximal phalanx of the hallux	biolink:OntologyClass	hp	UMLS:C4024047		http://purl.obolibrary.org/obo/HP_0010106		Absent innermost bone of big toe
OBO:HP_0010107	Short proximal phalanx of hallux	biolink:OntologyClass	hp	UMLS:C1862159	Underdevelopment (hypoplasia) of the proximal phalanx of big toe.	http://purl.obolibrary.org/obo/HP_0010107		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
OBO:HP_0010109	Short hallux	biolink:OntologyClass	hp	UMLS:C1865992	Underdevelopment (hypoplasia) of the big toe.	http://purl.obolibrary.org/obo/HP_0010109		Short big toe|Hypoplastic big toes|Hypoplastic hallux|Short halluces|Small hallux
OBO:HP_0010110	Aplasia of the phalanges of the hallux	biolink:OntologyClass	hp	UMLS:C4024046		http://purl.obolibrary.org/obo/HP_0010110		Absent bone of big toe
OBO:HP_0010111	Short phalanx of hallux	biolink:OntologyClass	hp	UMLS:C4021334	Underdevelopment (hypoplasia) of a phalanx of big toe.	http://purl.obolibrary.org/obo/HP_0010111		Hypoplastic phalanges of the hallux|Short bone of big toe
OBO:HP_0010112	Mesoaxial foot polydactyly	biolink:OntologyClass	hp	UMLS:C4021333	The presence of a supernumerary toe (not a hallux) involving the third or fourth metatarsal with associated osseous syndactyly.	http://purl.obolibrary.org/obo/HP_0010112	hposlim_core	Central polydactyly of feet
OBO:HP_0010113	Absent hallux epiphysis	biolink:OntologyClass	hp	UMLS:C4020906	Failure to form (agenesis) of one or more epiphyses of the big toe.	http://purl.obolibrary.org/obo/HP_0010113		Absent end part of big toe bone|Absent epiphyses of the hallux
OBO:HP_0010114	Bracket epiphyses of the hallux	biolink:OntologyClass	hp	UMLS:C4024045		http://purl.obolibrary.org/obo/HP_0010114		Bracket shaped end part of big toe bone
OBO:HP_0010115	Cone-shaped epiphyses of the hallux	biolink:OntologyClass	hp	UMLS:C4024044		http://purl.obolibrary.org/obo/HP_0010115		Cone-shaped end part of the big toe bone
OBO:HP_0010116	Enlarged epiphyses of the hallux	biolink:OntologyClass	hp	UMLS:C4024043		http://purl.obolibrary.org/obo/HP_0010116		Enlarged end part of the big toe bone
OBO:HP_0010117	Fragmentation of the epiphyses of the hallux	biolink:OntologyClass	hp	UMLS:C4024042		http://purl.obolibrary.org/obo/HP_0010117		Fragmentation of the end part of the big toe bone
OBO:HP_0010118	Irregular epiphyses of the hallux	biolink:OntologyClass	hp	UMLS:C4024041		http://purl.obolibrary.org/obo/HP_0010118		Irregular end part of big toe bone
OBO:HP_0010119	Ivory epiphyses of the hallux	biolink:OntologyClass	hp	UMLS:C4024040		http://purl.obolibrary.org/obo/HP_0010119		Increased bone density of end part of the big toe bone
OBO:HP_0010120	Pseudoepiphyses of the hallux	biolink:OntologyClass	hp	UMLS:C4024039		http://purl.obolibrary.org/obo/HP_0010120		
OBO:HP_0010121	Small epiphyses of the hallux	biolink:OntologyClass	hp	UMLS:C4024038		http://purl.obolibrary.org/obo/HP_0010121		Small end part of the big toe bone
OBO:HP_0010122	Stippling of the epiphyses of the hallux	biolink:OntologyClass	hp	UMLS:C4024037	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the hallux.	http://purl.obolibrary.org/obo/HP_0010122		Speckled calcifications in the end part of the big toe bone
OBO:HP_0010123	Triangular epiphyses of the hallux	biolink:OntologyClass	hp	UMLS:C4024036		http://purl.obolibrary.org/obo/HP_0010123		Triangular end part of the big toe bone
OBO:HP_0010124	Abnormality of the epiphysis of the distal phalanx of the hallux	biolink:OntologyClass	hp	UMLS:C4024035		http://purl.obolibrary.org/obo/HP_0010124		Abnormality of the end part of the outermost bone of the big toe bone
OBO:HP_0010125	Abnormality of the epiphysis of the 1st metatarsal	biolink:OntologyClass	hp	UMLS:C4024034	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.	http://purl.obolibrary.org/obo/HP_0010125		Abnormality of the end part of the 1st long bone of foot
OBO:HP_0010126	Abnormality of the epiphysis of the proximal phalanx of the hallux	biolink:OntologyClass	hp	UMLS:C4024033	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.	http://purl.obolibrary.org/obo/HP_0010126		Abnormality of the end part of the innermost bone of the big toe
OBO:HP_0010127	Absent epiphysis of the proximal phalanx of the hallux	biolink:OntologyClass	hp	UMLS:C4024032	Failure to form (agenesis) of the epiphysis of the proximal phalanx of the hallux.	http://purl.obolibrary.org/obo/HP_0010127		Absent end part of the innermost bone of the big toe
OBO:HP_0010128	Bracket epiphysis of the proximal phalanx of the hallux	biolink:OntologyClass	hp	UMLS:C4024031	The epiphysis of the proximal phalanx of the hallux surrounds the diaphysis, having a bracket-like form.	http://purl.obolibrary.org/obo/HP_0010128		Bracket shaped end part of the innermost bone of big toe
OBO:HP_0010129	Cone-shaped epiphysis of the proximal phalanx of the hallux	biolink:OntologyClass	hp	UMLS:C4024030		http://purl.obolibrary.org/obo/HP_0010129		Cone-shaped end part of the innermost bone of the big toe
OBO:HP_0010130	Enlarged epiphysis of the proximal phalanx of the hallux	biolink:OntologyClass	hp	UMLS:C4024029		http://purl.obolibrary.org/obo/HP_0010130		Enlarged end part of the innermost bone of the big toe
OBO:HP_0010131	Fragmentation of the epiphysis of the proximal phalanx of the hallux	biolink:OntologyClass	hp	UMLS:C4024028		http://purl.obolibrary.org/obo/HP_0010131		Fragmentation of the end part of the innermost bone of the big toe
OBO:HP_0010132	Irregular epiphysis of the proximal phalanx of the hallux	biolink:OntologyClass	hp	UMLS:C4024027		http://purl.obolibrary.org/obo/HP_0010132		Irregular end part of the innermost bone of the big toe
OBO:HP_0010133	Ivory epiphysis of the proximal phalanx of the hallux	biolink:OntologyClass	hp	UMLS:C4024026		http://purl.obolibrary.org/obo/HP_0010133		Increased bone density of end part of the innermost bone of the big toe
OBO:HP_0010134	Pseudoepiphysis of the proximal phalanx of the hallux	biolink:OntologyClass	hp	UMLS:C4024025		http://purl.obolibrary.org/obo/HP_0010134		
OBO:HP_0010135	Small epiphysis of the proximal phalanx of the hallux	biolink:OntologyClass	hp	UMLS:C4024024		http://purl.obolibrary.org/obo/HP_0010135		Small end part of the innermost bone of the big toe
OBO:HP_0010136	Stippling of the epiphysis of the proximal phalanx of the hallux	biolink:OntologyClass	hp	UMLS:C4024023	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the hallux.	http://purl.obolibrary.org/obo/HP_0010136		Speckled calcifications in the end part of the innermost bone of the big toe
OBO:HP_0010137	Triangular epiphysis of the proximal phalanx of the hallux	biolink:OntologyClass	hp	UMLS:C4024022		http://purl.obolibrary.org/obo/HP_0010137		Triangular end part of the innermost bone of the big toe
OBO:HP_0010138	Absent epiphysis of the distal phalanx of the hallux	biolink:OntologyClass	hp	UMLS:C4024021	Failure to form (agenesis) of the epiphysis of the distal phalanx of the hallux.	http://purl.obolibrary.org/obo/HP_0010138		Absent end part of the outermost bone of the big toe
OBO:HP_0010139	Bracket epiphysis of the distal phalanx of the hallux	biolink:OntologyClass	hp	UMLS:C4024020	The epiphysis of the distal phalanx of the hallux surrounds the diaphysis, having a bracket-like form.	http://purl.obolibrary.org/obo/HP_0010139		Bracket shaped end part of the outermost bone of big toe
OBO:HP_0010140	Cone-shaped epiphysis of the distal phalanx of the hallux	biolink:OntologyClass	hp	UMLS:C4024019		http://purl.obolibrary.org/obo/HP_0010140		Cone-shaped end part of the outermost bone of the big toe
OBO:HP_0010141	Enlarged epiphysis of the distal phalanx of the hallux	biolink:OntologyClass	hp	UMLS:C4024018		http://purl.obolibrary.org/obo/HP_0010141		Enlarged end part of the outermost bone of the big toe
OBO:HP_0010142	Fragmentation of the epiphysis of the distal phalanx of the hallux	biolink:OntologyClass	hp	UMLS:C4024017		http://purl.obolibrary.org/obo/HP_0010142		Fragmentation of the end part of the outermost bone of the big toe
OBO:HP_0010143	Irregular epiphysis of the distal phalanx of the hallux	biolink:OntologyClass	hp	UMLS:C4024016		http://purl.obolibrary.org/obo/HP_0010143		Irregular end part of the outermost bone of the big toe
OBO:HP_0010144	Ivory epiphysis of the distal phalanx of the hallux	biolink:OntologyClass	hp	UMLS:C4024015		http://purl.obolibrary.org/obo/HP_0010144		Increased bone density of end part of the outermost bone of the big toe
OBO:HP_0010145	Pseudoepiphysis of the distal phalanx of the hallux	biolink:OntologyClass	hp	UMLS:C4024014		http://purl.obolibrary.org/obo/HP_0010145		
OBO:HP_0010146	Small epiphysis of the distal phalanx of the hallux	biolink:OntologyClass	hp	UMLS:C4024013		http://purl.obolibrary.org/obo/HP_0010146		Small end part of the outermost bone of the big toe
OBO:HP_0010147	Stippling of the epiphysis of the distal phalanx of the hallux	biolink:OntologyClass	hp	UMLS:C4024012	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the hallux.	http://purl.obolibrary.org/obo/HP_0010147		Speckled calcifications in the end part of the outermost bone of the big toe
OBO:HP_0010148	Triangular epiphysis of the distal phalanx of the hallux	biolink:OntologyClass	hp	UMLS:C4024011		http://purl.obolibrary.org/obo/HP_0010148		Triangular end part of the outermost bone of the big toe
OBO:HP_0010149	Absent epiphysis of the 1st metatarsal	biolink:OntologyClass	hp	UMLS:C4024010	Failure to form (agenesis) of the epiphysis of the 1st metatarsal.	http://purl.obolibrary.org/obo/HP_0010149		Absent end part of the 1st long bone of foot
OBO:HP_0010150	Bracket epiphysis of the 1st metatarsal	biolink:OntologyClass	hp	UMLS:C4024009	The epiphysis of the 1st metatarsal surrounds the diaphysis, having a bracket-like form.	http://purl.obolibrary.org/obo/HP_0010150		Bracket shaped end part of 1st long bone of foot
OBO:HP_0010151	Cone-shaped epiphysis of the 1st metatarsal	biolink:OntologyClass	hp	UMLS:C4024008	A conical (cone-shaped) appearance of the epiphysis of the first metatarsal of the foot.	http://purl.obolibrary.org/obo/HP_0010151		Cone-shaped end part of the 1st long bone of foot
OBO:HP_0010152	Enlarged epiphysis of the 1st metatarsal	biolink:OntologyClass	hp	UMLS:C4024007		http://purl.obolibrary.org/obo/HP_0010152		Enlarged end part of the 1st long bone of foot
OBO:HP_0010153	Fragmentation of the epiphysis of the 1st metatarsal	biolink:OntologyClass	hp	UMLS:C4024006		http://purl.obolibrary.org/obo/HP_0010153		Fragmentation of the end part of the 1st long bone of foot
OBO:HP_0010154	Irregular epiphysis of the 1st metatarsal	biolink:OntologyClass	hp	UMLS:C4024005		http://purl.obolibrary.org/obo/HP_0010154		Irregular end part of the 1st long bone of foot
OBO:HP_0010155	Ivory epiphysis of the 1st metatarsal	biolink:OntologyClass	hp	UMLS:C4024004	The epiphysis of the 1st metatarsal are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.	http://purl.obolibrary.org/obo/HP_0010155		Increased bone density of end part of the 1st long bone of foot
OBO:HP_0010156	Pseudoepiphysis of the 1st metatarsal	biolink:OntologyClass	hp	UMLS:C4024003		http://purl.obolibrary.org/obo/HP_0010156		
OBO:HP_0010157	Small epiphysis of the 1st metatarsal	biolink:OntologyClass	hp	UMLS:C4024002		http://purl.obolibrary.org/obo/HP_0010157		Small end part of the 1st long bone of foot
OBO:HP_0010158	Stippling of the epiphysis of the 1st metatarsal	biolink:OntologyClass	hp	UMLS:C4024001		http://purl.obolibrary.org/obo/HP_0010158		Speckled calcifications in the end part of the 1st long bone of foot
OBO:HP_0010159	Triangular epiphysis of the 1st metatarsal	biolink:OntologyClass	hp	UMLS:C4024000		http://purl.obolibrary.org/obo/HP_0010159		Triangular end part of the 1st long bone of foot
OBO:HP_0010160	Abnormality of the epiphyses of the toes	biolink:OntologyClass	hp	UMLS:C4023999		http://purl.obolibrary.org/obo/HP_0010160		Abnormality of the end part of the toe bones
OBO:HP_0010161	Abnormality of the phalanges of the toes	biolink:OntologyClass	hp	UMLS:C4023998		http://purl.obolibrary.org/obo/HP_0010161		Abnormality of the long bones of the toes
OBO:HP_0010162	Absent epiphyses of the toes	biolink:OntologyClass	hp	UMLS:C4023997	Absence of the epiphyses of the phalanges of the toes.	http://purl.obolibrary.org/obo/HP_0010162		Absent end part of the toe bones
OBO:HP_0010163	Bracket epiphyses of the toes	biolink:OntologyClass	hp	UMLS:C4023996		http://purl.obolibrary.org/obo/HP_0010163		Bracket shaped end part of the toe bones
OBO:HP_0010164	Cone-shaped epiphyses of the toes	biolink:OntologyClass	hp	UMLS:C4023995		http://purl.obolibrary.org/obo/HP_0010164		Cone-shaped end part of the toe bones
OBO:HP_0010165	Enlarged epiphyses of the toes	biolink:OntologyClass	hp	UMLS:C4023994		http://purl.obolibrary.org/obo/HP_0010165		Enlarged end part of the toe bones
OBO:HP_0010166	Fragmentation of the epiphyses of the toes	biolink:OntologyClass	hp	UMLS:C4023993		http://purl.obolibrary.org/obo/HP_0010166		Fragmentation of the end part of the toe bones
OBO:HP_0010167	Irregular epiphyses of the toes	biolink:OntologyClass	hp	UMLS:C4023992		http://purl.obolibrary.org/obo/HP_0010167		Irregular end part of the toe bones
OBO:HP_0010168	Ivory epiphyses of the toes	biolink:OntologyClass	hp	UMLS:C4023991		http://purl.obolibrary.org/obo/HP_0010168		Increased bone density of end part of the toes
OBO:HP_0010169	Pseudoepiphyses of the toes	biolink:OntologyClass	hp	UMLS:C4023990		http://purl.obolibrary.org/obo/HP_0010169		
OBO:HP_0010170	Small epiphyses of the toes	biolink:OntologyClass	hp	UMLS:C4023989		http://purl.obolibrary.org/obo/HP_0010170		Small end part of the toe bones
OBO:HP_0010171	Epiphyseal stippling of toe phalanges	biolink:OntologyClass	hp	UMLS:C4021332	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the toes.	http://purl.obolibrary.org/obo/HP_0010171		Speckled calcifications in long toe bones|Stippling of the epiphyses of the toes
OBO:HP_0010172	Triangular epiphyses of the toes	biolink:OntologyClass	hp	UMLS:C4023988		http://purl.obolibrary.org/obo/HP_0010172		Triangular end part of the toe bones
OBO:HP_0010173	Aplasia/Hypoplasia of the phalanges of the toes	biolink:OntologyClass	hp	UMLS:C4023987		http://purl.obolibrary.org/obo/HP_0010173		Absent/small toe bones|Absent/underdeveloped toe bones
OBO:HP_0010174	Broad phalanx of the toes	biolink:OntologyClass	hp	UMLS:C4023986	Increased width of phalanx of one or more toes.	http://purl.obolibrary.org/obo/HP_0010174		Wide toe bones
OBO:HP_0010175	Bullet-shaped toe phalanx	biolink:OntologyClass	hp	UMLS:C4021331	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.	http://purl.obolibrary.org/obo/HP_0010175		Bullet-shaped phalanges of the toes|Bullet-shaped toe bone
OBO:HP_0010176	Curved toe phalanx	biolink:OntologyClass	hp	UMLS:C4021330	A deviation from the normal straight form of one or more toe phalanges.	http://purl.obolibrary.org/obo/HP_0010176		Curved toe bone|Curved phalanges of the toes
OBO:HP_0010177	Osteolytic defects of the phalanges of the toes	biolink:OntologyClass	hp	UMLS:C4023985		http://purl.obolibrary.org/obo/HP_0010177		
OBO:HP_0010178	Patchy sclerosis of toe phalanx	biolink:OntologyClass	hp	UMLS:C4021329	Uneven (irregular) increase in bone density of one or more of the phalanges of the foot.	http://purl.obolibrary.org/obo/HP_0010178		Uneven increase in bone density in toe bone|Patchy sclerosis of the phalanges of the toes
OBO:HP_0010179	Symphalangism affecting the phalanges of the toes	biolink:OntologyClass	hp	UMLS:C4023984		http://purl.obolibrary.org/obo/HP_0010179		Fused toe bones
OBO:HP_0010180	Triangular shaped phalanges of the toes	biolink:OntologyClass	hp	UMLS:C4023983		http://purl.obolibrary.org/obo/HP_0010180		Triangular shaped toe bones
OBO:HP_0010181	Duplication of phalanx of toe	biolink:OntologyClass	hp	UMLS:C4021328	Partial/complete duplication of one or more phalanx of toe.	http://purl.obolibrary.org/obo/HP_0010181		Duplicated toe bone|Partial/complete duplication of the phalanges of the toes
OBO:HP_0010182	Abnormality of the distal phalanges of the toes	biolink:OntologyClass	hp	UMLS:C4023982		http://purl.obolibrary.org/obo/HP_0010182		Abnormality of the outermost bone of the toes
OBO:HP_0010183	Abnormality of the middle phalanges of the toes	biolink:OntologyClass	hp	UMLS:C4023981		http://purl.obolibrary.org/obo/HP_0010183		Abnormal middle bones of toe
OBO:HP_0010184	Abnormality of toe proximal phalanx	biolink:OntologyClass	hp	UMLS:C4021327	A morphological anomaly of one or more proximal phalanges of one or more toes.	http://purl.obolibrary.org/obo/HP_0010184		Abnormal innermost toe bone|Abnormality of the proximal phalanges of the toes
OBO:HP_0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	biolink:OntologyClass	hp	UMLS:C4020773|UMLS:C4021326	Absence or underdevelopment of the distal phalanges of the toes.	http://purl.obolibrary.org/obo/HP_0010185		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
OBO:HP_0010186	Broad distal phalanx of the toes	biolink:OntologyClass	hp	UMLS:C4023980	Increased width of the distal phalanx of toe of one or more toes.	http://purl.obolibrary.org/obo/HP_0010186		Broad outermost bone of the toe|Wide outermost bone of the toe
OBO:HP_0010187	Bullet-shaped distal toe phalanx	biolink:OntologyClass	hp	UMLS:C4021325	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.	http://purl.obolibrary.org/obo/HP_0010187		Bullet-shaped outermost bone of the toe|Bullet-shaped distal phalanges of the toes
OBO:HP_0010188	Curved distal toe phalanx	biolink:OntologyClass	hp	UMLS:C4021324	A deviation from the normal straight form of one or more distal toe phalanges.	http://purl.obolibrary.org/obo/HP_0010188		Curved outermost bone of the toe|Curved distal phalanges of the toes
OBO:HP_0010189	Osteolytic defects of the distal phalanges of the toes	biolink:OntologyClass	hp	UMLS:C4023979		http://purl.obolibrary.org/obo/HP_0010189		
OBO:HP_0010190	Patchy sclerosis of distal toe phalanx	biolink:OntologyClass	hp	UMLS:C4021323	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.	http://purl.obolibrary.org/obo/HP_0010190		Uneven increase in bone density in outermost toe bone|Patchy sclerosis of the distal phalanges of the toes
OBO:HP_0010191	Symphalangism affecting the distal phalanges of the toes	biolink:OntologyClass	hp	UMLS:C4023978		http://purl.obolibrary.org/obo/HP_0010191		Fused outermost bones of toes
OBO:HP_0010192	Triangular shaped distal phalanges of the toes	biolink:OntologyClass	hp	UMLS:C4023977		http://purl.obolibrary.org/obo/HP_0010192		Triangular shaped outermost bone of the toes
OBO:HP_0010193	Duplication of distal phalanx of toe	biolink:OntologyClass	hp	UMLS:C4021322	A partial or complete duplication of one or more distal phalanx of toe.	http://purl.obolibrary.org/obo/HP_0010193		Duplication of outermost bone of toe|Partial/complete duplication of the distal phalanges of the toes
OBO:HP_0010194	Aplasia/Hypoplasia of the middle phalanges of the toes	biolink:OntologyClass	hp	UMLS:C4023976		http://purl.obolibrary.org/obo/HP_0010194		Absent/small middle bones of toe|Absent/underdeveloped middle bones of toe
OBO:HP_0010195	Broad middle phalanges of the toes	biolink:OntologyClass	hp	UMLS:C4023975		http://purl.obolibrary.org/obo/HP_0010195		Broad middle bones of the toes
OBO:HP_0010196	Bullet-shaped middle toe phalanx	biolink:OntologyClass	hp	UMLS:C4021321	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.	http://purl.obolibrary.org/obo/HP_0010196		Bullet-shaped middle bones of the toes|Bullet-shaped middle phalanges of the toes
OBO:HP_0010197	Curved middle toe phalanx	biolink:OntologyClass	hp	UMLS:C4021320	A deviation from the normal straight form of one or more middle toe phalanges.	http://purl.obolibrary.org/obo/HP_0010197		Curved middle bones of the toes|Curved middle phalanges of the toes
OBO:HP_0010198	Osteolytic defects of the middle phalanges of the toes	biolink:OntologyClass	hp	UMLS:C4023974		http://purl.obolibrary.org/obo/HP_0010198		
OBO:HP_0010199	Patchy sclerosis of middle toe phalanx	biolink:OntologyClass	hp	UMLS:C4021319	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.	http://purl.obolibrary.org/obo/HP_0010199		Uneven increase in bone density in middle toe bone|Patchy sclerosis of the middle phalanges of the toes
OBO:HP_0010200	Symphalangism affecting the middle phalanges of the toes	biolink:OntologyClass	hp	UMLS:C4023973		http://purl.obolibrary.org/obo/HP_0010200		Fused middle bones of toes
OBO:HP_0010201	Triangular shaped middle phalanges of the toes	biolink:OntologyClass	hp	UMLS:C4023972		http://purl.obolibrary.org/obo/HP_0010201		Triangular shaped middle bones of toes
OBO:HP_0010202	Duplication of middle phalanx of toe	biolink:OntologyClass	hp	UMLS:C4021318	Partial or complete duplication of a middle phalanx of toe.	http://purl.obolibrary.org/obo/HP_0010202		Partial/complete duplication of the middle bones of the toes|Partial/complete duplication of the middle phalanges of the toes
OBO:HP_0010203	Aplasia/hypoplasia of proximal toe phalanx	biolink:OntologyClass	hp	UMLS:C4021317	Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the toes.	http://purl.obolibrary.org/obo/HP_0010203		Absent/small innermost toe bones|Absent/underdeveloped innermost toe bones|Aplasia/Hypoplasia of the proximal phalanges of the toes
OBO:HP_0010204	Broad proximal phalanx of toe	biolink:OntologyClass	hp	UMLS:C4023971	An increase in width of one ore more proximal toe phalanges.	http://purl.obolibrary.org/obo/HP_0010204		Broad innermost toe bone
OBO:HP_0010205	Bullet-shaped proximal toe phalanx	biolink:OntologyClass	hp	UMLS:C4021316	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.	http://purl.obolibrary.org/obo/HP_0010205		Bullet-shaped innermost toe bone|Bullet-shaped proximal phalanges of the toes|Bullet-shaped proximal phalanges of toe
OBO:HP_0010206	Curved proximal toe phalanx	biolink:OntologyClass	hp	UMLS:C4021315	A deviation from the normal straight shape of a proximal phalanx of one or more toes.	http://purl.obolibrary.org/obo/HP_0010206		Curved innermost toe bones|Curved proximal phalanges of the toes
OBO:HP_0010207	Osteolytic defect of the proximal toe phalanx	biolink:OntologyClass	hp	UMLS:C4021314	Dissolution or degeneration of bone tissue of the proximal toe phalanx.	http://purl.obolibrary.org/obo/HP_0010207		Osteolytic defects of the proximal phalanges of the toes
OBO:HP_0010208	Patchy sclerosis of proximal toe phalanx	biolink:OntologyClass	hp	UMLS:C4021313	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.	http://purl.obolibrary.org/obo/HP_0010208		Uneven increase in bone density in innermost toe bone|Patchy sclerosis of the proximal phalanges of the toes
OBO:HP_0010209	Symphalangism affecting the proximal phalanges of the toes	biolink:OntologyClass	hp	UMLS:C4023970		http://purl.obolibrary.org/obo/HP_0010209		Fused innermost bones of toes
OBO:HP_0010210	Triangular shaped proximal phalanges of the toes	biolink:OntologyClass	hp	UMLS:C4023969		http://purl.obolibrary.org/obo/HP_0010210		Triangular shaped innermost toe bones
OBO:HP_0010211	Duplication of proximal phalanx of toe	biolink:OntologyClass	hp	UMLS:C4021312	Partial/complete duplication of a proximal phalanx of toe.	http://purl.obolibrary.org/obo/HP_0010211		Duplication of innermost toe bones|Partial/complete duplication of the proximal phalanges of the toes
OBO:HP_0010212	Flexion contracture of the hallux	biolink:OntologyClass	hp	UMLS:C4021311	One or more bent (flexed) joints of the first (big) toe that cannot be straightened actively or passively.	http://purl.obolibrary.org/obo/HP_0010212		Joint contracture of the big toe|Joint contracture of the hallux
OBO:HP_0010213	Contracture of the tarsometatarsal joint of the hallux	biolink:OntologyClass	hp	UMLS:C4023968	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.	http://purl.obolibrary.org/obo/HP_0010213		
OBO:HP_0010214	Contracture of the interphalangeal joint of the hallux	biolink:OntologyClass	hp	UMLS:C4023967	The interphalangeal joint of the big toe cannot be straightened actively or passively.	http://purl.obolibrary.org/obo/HP_0010214		
OBO:HP_0010215	Contractures of the metatarsophalangeal joint of the hallux	biolink:OntologyClass	hp	UMLS:C4023966	The joint between the first metatarsal and the proximal phalanx of the first (big) toe cannot be straightened actively or passively.	http://purl.obolibrary.org/obo/HP_0010215		
OBO:HP_0010219	Structural foot deformity	biolink:OntologyClass	hp	UMLS:C4023965	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.	http://purl.obolibrary.org/obo/HP_0010219		
OBO:HP_0010220	Abnormality of the epiphysis of the 2nd metacarpal	biolink:OntologyClass	hp	UMLS:C4023964	Any abnormality of the epiphysis of the second metacarpal bone.	http://purl.obolibrary.org/obo/HP_0010220		Abnormality of the end part of the 2nd long bone of hand
OBO:HP_0010221	obsolete Pseudoepiphysis of the 2nd metacarpal	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0010221		
OBO:HP_0010222	Abnormality of the epiphysis of the 3rd metacarpal	biolink:OntologyClass	hp	UMLS:C4023962	Any abnormality of the epiphysis of the third metacarpal bone.	http://purl.obolibrary.org/obo/HP_0010222		Abnormality of the end part of the 3rd long bone of hand
OBO:HP_0010223	Pseudoepiphysis of the 3rd metacarpal	biolink:OntologyClass	hp	UMLS:C4023961	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.	http://purl.obolibrary.org/obo/HP_0010223		
OBO:HP_0010224	Abnormality of the epiphysis of the 4th metacarpal	biolink:OntologyClass	hp	UMLS:C4023960	Any abnormality of the epiphysis of the 4th metacarpal bone.	http://purl.obolibrary.org/obo/HP_0010224		Abnormality of the end part of the 4th long bone of hand
OBO:HP_0010225	Pseudoepiphysis of the 4th metacarpal	biolink:OntologyClass	hp	UMLS:C4023959	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.	http://purl.obolibrary.org/obo/HP_0010225		
OBO:HP_0010226	Abnormality of the epiphysis of the 5th metacarpal	biolink:OntologyClass	hp	UMLS:C4023958	Any abnormality of the epiphysis of the fifth metacarpal bone.	http://purl.obolibrary.org/obo/HP_0010226		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
OBO:HP_0010227	Pseudoepiphysis of the 5th metacarpal	biolink:OntologyClass	hp	UMLS:C4023957	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.	http://purl.obolibrary.org/obo/HP_0010227		
OBO:HP_0010228	Absent epiphyses of the phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4021310	Absence of one or more epiphyses of the phalanges of the fingers.	http://purl.obolibrary.org/obo/HP_0010228		Absent end part of fingers|Absent epiphyses of the fingers
OBO:HP_0010229	Bracket epiphyses of the phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4021309	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.	http://purl.obolibrary.org/obo/HP_0010229		Bracket shaped end part of finger bones|Bracket epiphyses of the fingers
OBO:HP_0010230	Cone-shaped epiphyses of the phalanges of the hand	biolink:OntologyClass	hp	UMLS:C1859480	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.	http://purl.obolibrary.org/obo/HP_0010230		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
OBO:HP_0010231	Enlarged epiphyses of the phalanges of the hand	biolink:OntologyClass	hp	UMLS:C1865036	Abnormally large size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms.	http://purl.obolibrary.org/obo/HP_0010231		Enlarged end part of finger bones|Enlarged epiphyses of the fingers|Enlarged phalangeal epiphyses
OBO:HP_0010232	Fragmentation of the epiphyses of the phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4021308	Fragmented appearance of the epiphyses of the phalanges of the fingers.	http://purl.obolibrary.org/obo/HP_0010232		Fragmentation of end part of finger bones|Fragmentation of the epiphyses of the fingers
OBO:HP_0010233	Irregular epiphyses of the phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4021307	Irregular radiographic opacity of the epiphyses of the phalanges of the fingers.	http://purl.obolibrary.org/obo/HP_0010233		Irregular end part of finger bones|Irregular epiphyses of the fingers
OBO:HP_0010234	Ivory epiphyses of the phalanges of the hand	biolink:OntologyClass	hp	UMLS:C1857651	Sclerosis of the epiphyses of the phalanges of the fingers, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.	http://purl.obolibrary.org/obo/HP_0010234		Increased bone density of end part of the hand bones|Ivory epiphyses of the fingers|Sclerotic ivory phalangeal epiphyses
OBO:HP_0010235	Pseudoepiphyses of the phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4021306	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.	http://purl.obolibrary.org/obo/HP_0010235		Pseudoepiphysis of the fingers
OBO:HP_0010236	Small epiphyses of the phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4021305	Abnormally small size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms.	http://purl.obolibrary.org/obo/HP_0010236		Small end part of finger bones|Small epiphyses of the fingers
OBO:HP_0010237	Epiphyseal stippling of finger phalanges	biolink:OntologyClass	hp	UMLS:C4021304	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the fingers.	http://purl.obolibrary.org/obo/HP_0010237		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
OBO:HP_0010238	Triangular epiphyses of the phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4021303	A triangular appearance of the epiphyses of the phalanges of the fingers of the hand.	http://purl.obolibrary.org/obo/HP_0010238		Triangular end part of finger bones|Delta-shaped epiphyses of the fingers|Triangular epiphyses of the fingers
OBO:HP_0010239	Aplasia of the middle phalanx of the hand	biolink:OntologyClass	hp	UMLS:C1862096	Absence of one or more middle phalanx of a finger.	http://purl.obolibrary.org/obo/HP_0010239		Absent middle bones of hand|Absent middle phalanges|Missing middle phalanges
OBO:HP_0010241	Short proximal phalanx of finger	biolink:OntologyClass	hp	UMLS:C1860606	Congenital hypoplasia of one or more proximal phalanx of finger.	http://purl.obolibrary.org/obo/HP_0010241		Short innermost finger bones|Short proximal phalanx of finger|Hypoplasia of the proximal phalanges of the hand|Short proximal phalanges|Shortening in proximal phalanges
OBO:HP_0010242	Aplasia of the proximal phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4021302		http://purl.obolibrary.org/obo/HP_0010242		Absent innermost bones|Absent proximal phalanges
OBO:HP_0010243	Abnormality of the epiphyses of the distal phalanx of finger	biolink:OntologyClass	hp	UMLS:C4023956	Any anomaly of distal epiphysis of phalanx of finger.	http://purl.obolibrary.org/obo/HP_0010243		Abnormality of the end part of the outermost bone of finger
OBO:HP_0010244	Abnormality of the epiphyses of the middle phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4023955		http://purl.obolibrary.org/obo/HP_0010244		Abnormality of the end part of the middle hand bones
OBO:HP_0010245	Abnormality of the epiphyses of the proximal phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4023954		http://purl.obolibrary.org/obo/HP_0010245		Abnormality of the end part of the innermost hand bones
OBO:HP_0010246	Absent epiphyses of the distal phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4023953		http://purl.obolibrary.org/obo/HP_0010246		Absent end part of the outermost hand bones
OBO:HP_0010247	Bracket epiphyses of the distal phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4023952	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.	http://purl.obolibrary.org/obo/HP_0010247		Bracket shaped end part of the outermost hand bones
OBO:HP_0010248	Cone-shaped epiphyses of the distal phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4023951		http://purl.obolibrary.org/obo/HP_0010248		Cone-shaped end part of the outermost hand bones
OBO:HP_0010249	Enlarged epiphyses of the distal phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4023950		http://purl.obolibrary.org/obo/HP_0010249		Enlarged end part of the outermost hand bones
OBO:HP_0010250	Fragmentation of the epiphyses of the distal phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4023949		http://purl.obolibrary.org/obo/HP_0010250		Fragmentation of the end part of the outermost hand bones
OBO:HP_0010251	Irregular epiphyses of the distal phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4023948		http://purl.obolibrary.org/obo/HP_0010251		Irregular end part of the outermost hand bones
OBO:HP_0010252	Ivory epiphyses of the distal phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4021301	Distal epiphyses of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.	http://purl.obolibrary.org/obo/HP_0010252		Increased bone density of end part of the outermost hand bones|Eburnated epiphyses of distal phalanges
OBO:HP_0010253	Pseudoepiphyses of the distal phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4023947	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.	http://purl.obolibrary.org/obo/HP_0010253		
OBO:HP_0010254	Small epiphyses of the distal phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4023946		http://purl.obolibrary.org/obo/HP_0010254		Small end part of the outermost hand bones
OBO:HP_0010255	Stippling of the epiphyses of the distal phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4023945		http://purl.obolibrary.org/obo/HP_0010255		Speckled calcifications in the end part of the outermost hand bones
OBO:HP_0010256	Triangular epiphyses of the distal phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4023944		http://purl.obolibrary.org/obo/HP_0010256		Triangular end part of the outermost hand bones
OBO:HP_0010257	Absent epiphyses of the middle phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4023943		http://purl.obolibrary.org/obo/HP_0010257		Absent end part of the middle hand bones
OBO:HP_0010258	Bracket epiphyses of the middle phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4023942	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.	http://purl.obolibrary.org/obo/HP_0010258		Bracket shaped end part of the middle hand bones
OBO:HP_0010259	Cone-shaped epiphyses of the middle phalanges of the hand	biolink:OntologyClass	hp	UMLS:C1860828		http://purl.obolibrary.org/obo/HP_0010259		Cone-shaped end part of the middle hand bones|Cone-shaped epiphyses of middle phalanges
OBO:HP_0010260	Enlarged epiphyses of the middle phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4023941		http://purl.obolibrary.org/obo/HP_0010260		Enlarged end part of the middle hand bones
OBO:HP_0010261	Fragmentation of the epiphyses of the middle phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4023940	Fragmented appearance of the epiphyses of the middle phalanges of the hand.	http://purl.obolibrary.org/obo/HP_0010261		Fragmentation of the end part of the middle hand bones
OBO:HP_0010262	Irregular epiphyses of the middle phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4023939		http://purl.obolibrary.org/obo/HP_0010262		Irregular end part of middle hand bones
OBO:HP_0010263	Ivory epiphyses of the middle phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4023938	Epiphyses of the middle phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.	http://purl.obolibrary.org/obo/HP_0010263		Increased bone density of end part of the middle hand bones
OBO:HP_0010264	Pseudoepiphyses of the middle phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4023937	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.	http://purl.obolibrary.org/obo/HP_0010264		
OBO:HP_0010265	Small epiphyses of the middle phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4023936		http://purl.obolibrary.org/obo/HP_0010265		Small end part of the middle hand bones
OBO:HP_0010266	Stippling of the epiphyses of the middle phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4023935		http://purl.obolibrary.org/obo/HP_0010266		Speckled calcifications in the end part of the middle hand bones
OBO:HP_0010267	Triangular epiphyses of the middle phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4023934		http://purl.obolibrary.org/obo/HP_0010267		Triangular end part of the middle hand bones
OBO:HP_0010268	Absent epiphyses of the proximal phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4023933		http://purl.obolibrary.org/obo/HP_0010268		Absent end part of the innermost hand bones
OBO:HP_0010269	Bracket epiphyses of the proximal phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4023932	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.	http://purl.obolibrary.org/obo/HP_0010269		Bracket shaped end part of the innermost hand bones
OBO:HP_0010270	Cone-shaped epiphyses of the proximal phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4023931		http://purl.obolibrary.org/obo/HP_0010270		Cone-shaped end part of the innermost hand bones
OBO:HP_0010271	Enlarged epiphyses of the proximal phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4023930		http://purl.obolibrary.org/obo/HP_0010271		Enlarged end part of the innermost hand bones
OBO:HP_0010272	Fragmentation of the epiphyses of the proximal phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4023929		http://purl.obolibrary.org/obo/HP_0010272		Fragmentation of the end part of the innermost hand bones
OBO:HP_0010273	Irregular epiphyses of the proximal phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4023928		http://purl.obolibrary.org/obo/HP_0010273		Irregular end part of the innermost hand bones
OBO:HP_0010274	Ivory epiphyses of the proximal phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4023927	Epiphyses of the proximal phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.	http://purl.obolibrary.org/obo/HP_0010274		Increased bone density of end part of the innermost hand bones
OBO:HP_0010275	Pseudoepiphyses of the proximal phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4023926	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.	http://purl.obolibrary.org/obo/HP_0010275		
OBO:HP_0010276	Small epiphyses of the proximal phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4023925		http://purl.obolibrary.org/obo/HP_0010276		Small end part of the innermost hand bones
OBO:HP_0010277	Stippling of the epiphyses of the proximal phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4023924		http://purl.obolibrary.org/obo/HP_0010277		Speckled calcifications in the end part of the innermost hand bones
OBO:HP_0010278	Triangular epiphyses of the proximal phalanges of the hand	biolink:OntologyClass	hp	UMLS:C4023923		http://purl.obolibrary.org/obo/HP_0010278		Triangular end part of the innermost hand bones
OBO:HP_0010280	Stomatitis	biolink:OntologyClass	hp	MSH:D013280|SNOMEDCT_US:20607006|SNOMEDCT_US:61170000|UMLS:C0038362|UMLS:C0149704	Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth.	http://purl.obolibrary.org/obo/HP_0010280	hposlim_core	Inflammation of the mouth|Gingivostomatitis
OBO:HP_0010281	Cleft lower lip	biolink:OntologyClass	hp	UMLS:C1856026	A gap in the lower lip.	http://purl.obolibrary.org/obo/HP_0010281	hposlim_core	Cleft lower lip|Cleft of the lower lip|Lower labial cleft
OBO:HP_0010282	Thin lower lip vermilion	biolink:OntologyClass	hp	UMLS:C2053440	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).	http://purl.obolibrary.org/obo/HP_0010282		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
OBO:HP_0010284	Intra-oral hyperpigmentation	biolink:OntologyClass	hp	SNOMEDCT_US:235038002|UMLS:C0399483|UMLS:C0877541|UMLS:C4280387|UMLS:C4280388|UMLS:C4280389	Increased pigmentation, either focal or generalized, of the mucosa of the mouth.	http://purl.obolibrary.org/obo/HP_0010284	hposlim_core	Dark color of gums|Pigmented gums|Hyperpigmentation of oral mucosa|Oral mucosa melanin pigmentation|Oral racial pigmentation|Gingival hyperpigmentation|Gingival melanin pigmentation
OBO:HP_0010285	Oral synechia	biolink:OntologyClass	hp	UMLS:C4023921	Fibrous band between the mucosal surfaces of the upper and lower alveolar ridges.	http://purl.obolibrary.org/obo/HP_0010285	hposlim_core	Oral fibrous bands|Synechiae of the mouth
OBO:HP_0010286	Abnormal salivary gland morphology	biolink:OntologyClass	hp	MSH:D012466|SNOMEDCT_US:10890000|UMLS:C0036093|UMLS:C0149772	Any abnormality of the salivary glands, the exocrine glands that produce saliva.	http://purl.obolibrary.org/obo/HP_0010286	hposlim_core	Abnormality of the salivary glands|Salivary gland disease
OBO:HP_0010287	Abnormality of the submandibular glands	biolink:OntologyClass	hp	UMLS:C4023920	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.	http://purl.obolibrary.org/obo/HP_0010287		Abnormality of the submaxillary glands
OBO:HP_0010288	Abnormality of the sublingual glands	biolink:OntologyClass	hp	UMLS:C4023919	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.	http://purl.obolibrary.org/obo/HP_0010288		
OBO:HP_0010289	Cleft of alveolar ridge of maxilla	biolink:OntologyClass	hp	SNOMEDCT_US:445306000|UMLS:C1398533|UMLS:C2919907|UMLS:C4280386	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.	http://purl.obolibrary.org/obo/HP_0010289	hposlim_core	Cleft of gum ridge|Notch of gum ridge|Alveolar ridge cleft|Notch of alveolar ridge|Cleft of alveolar process|Notch of alveolar process
OBO:HP_0010290	Short hard palate	biolink:OntologyClass	hp	UMLS:C1398301|UMLS:C4020772|UMLS:C4023918	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).	http://purl.obolibrary.org/obo/HP_0010290		Decreased length of hard palate|Hypoplastic palate|Short palate
OBO:HP_0010291	Prominent palatine ridges	biolink:OntologyClass	hp	UMLS:C4021300	Increased size and/or number of soft tissue folds on the palatal side of the maxillary alveolar ridge.	http://purl.obolibrary.org/obo/HP_0010291	hposlim_core	Large lateral palatal folds|Large lateral palatal ridges|Prominent lateral palatal folds|Prominent lateral palatal ridges|Prominent palatine folds
OBO:HP_0010292	Absent uvula	biolink:OntologyClass	hp	SNOMEDCT_US:25148007|UMLS:C0266121	Lack of the uvula.	http://purl.obolibrary.org/obo/HP_0010292	hposlim_core	Absent palatine uvula|Congenital absence of uvula|Missing uvula|Uvula aplasia|Agenesis of uvula
OBO:HP_0010293	Aplasia/Hypoplasia of the uvula	biolink:OntologyClass	hp	UMLS:C4023917	Underdevelopment or absence of the uvula.	http://purl.obolibrary.org/obo/HP_0010293		Aplasia/hypoplasia of palatine uvula
OBO:HP_0010294	Palate fistula	biolink:OntologyClass	hp	UMLS:C2032780|UMLS:C4280385	A fistula which connects the oral cavity and the pharyngeal area via the aspects of the soft palate.	http://purl.obolibrary.org/obo/HP_0010294		Hole in roof of mouth|Palatal hole|Palatal perforation
OBO:HP_0010295	Aplasia/Hypoplasia of the tongue	biolink:OntologyClass	hp	UMLS:C4023916|UMLS:C4280384	Absence or underdevelopment of the tongue.	http://purl.obolibrary.org/obo/HP_0010295		Lingual aplasia/hypoplasia
OBO:HP_0010296	Ankyloglossia	biolink:OntologyClass	hp	MSH:D000072676|SNOMEDCT_US:67787004|UMLS:C0152415	Short or anteriorly attached lingual frenulum, associated with limited mobility of the tongue.	http://purl.obolibrary.org/obo/HP_0010296		Tongue tied|Tongue tie
OBO:HP_0010297	Bifid tongue	biolink:OntologyClass	hp	SNOMEDCT_US:84557007|UMLS:C0266111|UMLS:C4255098	Tongue with a median apical indentation or fork.	http://purl.obolibrary.org/obo/HP_0010297	hposlim_core	Cleft tongue|Forked tongue|Split tongue|Snake tongue|Bifurcated tongue|Bilobed tongue
OBO:HP_0010298	Smooth tongue	biolink:OntologyClass	hp	SNOMEDCT_US:9491003|UMLS:C0155964|UMLS:C4280381|UMLS:C4280382|UMLS:C4280383	Glossy appearance of the entire tongue surface.	http://purl.obolibrary.org/obo/HP_0010298	hposlim_core	Smooth surface of tongue|Smooth tongue|Smooth lingual surface|Smooth dorsum of tongue|Atrophy of dorsum of tongue|Atrophy of lingual surface|Atrophy of tongue surface
OBO:HP_0010299	Abnormality of dentin	biolink:OntologyClass	hp	UMLS:C4021299	Any abnormality of dentin.	http://purl.obolibrary.org/obo/HP_0010299	hposlim_core	Abnormal dentin|Abnormality of dentin|Abnormality of dentine
OBO:HP_0010300	Abnormally low-pitched voice	biolink:OntologyClass	hp	UMLS:C4023915	An abnormally low-pitched voice.	http://purl.obolibrary.org/obo/HP_0010300		
OBO:HP_0010301	Spinal dysraphism	biolink:OntologyClass	hp	MSH:D009436|SNOMEDCT_US:253098009|UMLS:C0027794	A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life.	http://purl.obolibrary.org/obo/HP_0010301		Incomplete closure of the vertebral arch
OBO:HP_0010302	Spinal cord tumor	biolink:OntologyClass	hp	MSH:D013120|NCIT:C3262|SNOMEDCT_US:126962006|UMLS:C0037930	A neoplasm affecting the spinal cord.	http://purl.obolibrary.org/obo/HP_0010302		Spinal cord tumor|Tumor of the spinal cord|Spinal cord tumour|Spinal tumor|Spinal tumors
OBO:HP_0010303	Abnormal spinal meningeal morphology	biolink:OntologyClass	hp	UMLS:C4023914	Any abnormality of the spinal meninges, the system of membranes (dura mater, the arachnoid mater, and the pia mater) which envelops the spinal cord.	http://purl.obolibrary.org/obo/HP_0010303		Abnormality of the spinal meninges
OBO:HP_0010304	Spinal meningeal diverticulum	biolink:OntologyClass	hp	UMLS:C4023913	An outpouching of the spinal meninges.	http://purl.obolibrary.org/obo/HP_0010304		
OBO:HP_0010305	Absence of the sacrum	biolink:OntologyClass	hp	MSH:C537221|SNOMEDCT_US:205425003|UMLS:C0344490	Absence (aplasia) of the sacrum.	http://purl.obolibrary.org/obo/HP_0010305	hposlim_core	Sacrococcygeal agenesis|Absent sacrum|Sacral agenesis
OBO:HP_0010306	Short thorax	biolink:OntologyClass	hp	SNOMEDCT_US:249670005|UMLS:C0426789	Reduced inferior to superior extent of the thorax.	http://purl.obolibrary.org/obo/HP_0010306		Shorter than typical length between neck and abdomen
OBO:HP_0010307	Stridor	biolink:OntologyClass	hp	MSH:D012135|SNOMEDCT_US:248573009|SNOMEDCT_US:70407001|UMLS:C0038450|UMLS:C0237304	Stridor is a high pitched sound resulting from turbulent air flow in the upper airway.	http://purl.obolibrary.org/obo/HP_0010307		Noisy breathing
OBO:HP_0010308	Asternia	biolink:OntologyClass	hp	UMLS:C4023912	The congenital absence of the sternum.	http://purl.obolibrary.org/obo/HP_0010308		Aplasia of the sternum|Breast bone aplasia
OBO:HP_0010309	Bifid sternum	biolink:OntologyClass	hp	SNOMEDCT_US:54008006|UMLS:C0265696	The sternal cleft is a rare congenital anomaly resulting from a fusion failure of the sternum.	http://purl.obolibrary.org/obo/HP_0010309	hposlim_core	Sternal cleft
OBO:HP_0010310	Chylothorax	biolink:OntologyClass	hp	MSH:D002916|SNOMEDCT_US:83035003|UMLS:C0008733	Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity.	http://purl.obolibrary.org/obo/HP_0010310		
OBO:HP_0010311	Aplasia/Hypoplasia of the breasts	biolink:OntologyClass	hp	UMLS:C4023911	Absence or underdevelopment of the breasts.	http://purl.obolibrary.org/obo/HP_0010311		Absent/small breasts|Absent/underdeveloped breasts
OBO:HP_0010312	Asymmetry of the breasts	biolink:OntologyClass	hp	MSH:C565299|UMLS:C1854013	The presence of asymmetrical breasts.	http://purl.obolibrary.org/obo/HP_0010312	hposlim_core	
OBO:HP_0010313	Breast hypertrophy	biolink:OntologyClass	hp	MSH:C536821|SNOMEDCT_US:372281005|SNOMEDCT_US:372283008|SNOMEDCT_US:372285001|UMLS:C0020565|UMLS:C0392533|UMLS:C2225524	The presence of hypertrophy of the breast.	http://purl.obolibrary.org/obo/HP_0010313	hposlim_core	Breast enlargement|Breasts enlarged|Gigantomastia|Hypertrophy of the breasts|Large breast|Macromastia
OBO:HP_0010314	Premature thelarche	biolink:OntologyClass	hp	SNOMEDCT_US:102889008|UMLS:C0425772	Premature development of the breasts.	http://purl.obolibrary.org/obo/HP_0010314		Premature breast development
OBO:HP_0010315	Aplasia/Hypoplasia of the diaphragm	biolink:OntologyClass	hp	UMLS:C4023910	Absence or underdevelopment of the diaphragm.	http://purl.obolibrary.org/obo/HP_0010315		Absent/small diaprhagm|Absent/underdeveloped diaprhagm
OBO:HP_0010316	Ebstein anomaly of the tricuspid valve	biolink:OntologyClass	hp	EPCC:06.01.34|ICD-10:Q22.5|MSH:D004437|SNOMEDCT_US:204357006|UMLS:C0013481	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.	http://purl.obolibrary.org/obo/HP_0010316		Ebstein's anomaly|Ebstein's anomaly of the tricuspid valve|Ebstein's malformation
OBO:HP_0010317	Scapular aplasia	biolink:OntologyClass	hp	UMLS:C4021298	Absence of the scapulae.	http://purl.obolibrary.org/obo/HP_0010317	hposlim_core	Absent shoulder blade|Absent scapula
OBO:HP_0010318	Aplasia/Hypoplasia of the abdominal wall musculature	biolink:OntologyClass	hp	UMLS:C4023909	Absence or underdevelopment of the abdominal musculature.	http://purl.obolibrary.org/obo/HP_0010318		Absent/small abdominal wall muscles|Absent/underdeveloped abdominal wall muscles
OBO:HP_0010319	Abnormality of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4023908	An anomaly of the second toe.	http://purl.obolibrary.org/obo/HP_0010319		
OBO:HP_0010320	Abnormality of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4023907	An anomaly of the third toe.	http://purl.obolibrary.org/obo/HP_0010320		Abnormality of the 3rd toe
OBO:HP_0010321	Abnormality of the 4th toe	biolink:OntologyClass	hp	UMLS:C4023906	An anomaly of the fourth toe.	http://purl.obolibrary.org/obo/HP_0010321		Abnormality of the 4th toe
OBO:HP_0010322	Abnormality of the 5th toe	biolink:OntologyClass	hp	UMLS:C4023905	An anomaly of the little toe.	http://purl.obolibrary.org/obo/HP_0010322		Abnormality of the little toe|Abnormality of the pinkie toe|Abnormality of the pinky toe
OBO:HP_0010323	Abnormality of the epiphyses of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4023904		http://purl.obolibrary.org/obo/HP_0010323		Abnormality of the end part of the 2nd toe bone
OBO:HP_0010324	Abnormality of phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4023903	An anomaly of a phalanx of second toe.	http://purl.obolibrary.org/obo/HP_0010324		Abnormality of the 2nd toe bone
OBO:HP_0010325	Aplasia/Hypoplasia of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4023902		http://purl.obolibrary.org/obo/HP_0010325		Absent/small 2nd toe|Absent/underdeveloped 2nd toe
OBO:HP_0010326	Deviation of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4021297		http://purl.obolibrary.org/obo/HP_0010326		Displacement of the 2nd toe
OBO:HP_0010327	Flexion contracture of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4021296	One or more bent (flexed) joints of the second toe that cannot be straightened actively or passively.	http://purl.obolibrary.org/obo/HP_0010327		Joint contractures of the 2nd toe
OBO:HP_0010328	Polydactyly affecting the 2nd toe	biolink:OntologyClass	hp	UMLS:C4023901		http://purl.obolibrary.org/obo/HP_0010328		
OBO:HP_0010329	Abnormality of the epiphyses of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4023900		http://purl.obolibrary.org/obo/HP_0010329		Abnormality of the end part of the 3rd toe bone
OBO:HP_0010330	Abnormality of the phalanges of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4023899		http://purl.obolibrary.org/obo/HP_0010330		Abnormality of the bones of the 3rd toe
OBO:HP_0010331	Aplasia/Hypoplasia of the 3rd toe	biolink:OntologyClass	hp	UMLS:C1862698		http://purl.obolibrary.org/obo/HP_0010331		Absent/small 3rd toe|Absent/underdeveloped 3rd toe|Absent/hypoplastic third toe
OBO:HP_0010332	Deviation of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4021295		http://purl.obolibrary.org/obo/HP_0010332		Displacement of the 3rd toe
OBO:HP_0010333	Flexion contracture of 3rd toe	biolink:OntologyClass	hp	UMLS:C4021294	One or more bent (flexed) joints of the third toe that cannot be straightened actively or passively.	http://purl.obolibrary.org/obo/HP_0010333		Joint contractures of the 3rd toe
OBO:HP_0010334	Polydactyly affecting the 3rd toe	biolink:OntologyClass	hp	UMLS:C4023898		http://purl.obolibrary.org/obo/HP_0010334		
OBO:HP_0010335	Abnormality of the epiphyses of the 4th toe	biolink:OntologyClass	hp	UMLS:C4023897		http://purl.obolibrary.org/obo/HP_0010335		Abnormality of the end part of the 4th toe bone
OBO:HP_0010336	Abnormality of the phalanges of the 4th toe	biolink:OntologyClass	hp	UMLS:C4023896		http://purl.obolibrary.org/obo/HP_0010336		
OBO:HP_0010337	Aplasia/Hypoplasia of the 4th toe	biolink:OntologyClass	hp	UMLS:C4023895		http://purl.obolibrary.org/obo/HP_0010337		Absent/small 4th toe|Absent/underdeveloped 4th toe
OBO:HP_0010338	Deviation of the 4th toe	biolink:OntologyClass	hp	UMLS:C4021293		http://purl.obolibrary.org/obo/HP_0010338		Displacement of the 4th toe
OBO:HP_0010339	Flexion contracture of the 4th toe	biolink:OntologyClass	hp	UMLS:C4021292	One or more bent (flexed) joints of the fourth toe that cannot be straightened actively or passively.	http://purl.obolibrary.org/obo/HP_0010339		Joint contractures of the 4th toe
OBO:HP_0010340	Polydactyly affecting the 4th toe	biolink:OntologyClass	hp	UMLS:C4023894		http://purl.obolibrary.org/obo/HP_0010340		
OBO:HP_0010341	Abnormality of the epiphyses of the 5th toe	biolink:OntologyClass	hp	UMLS:C4023893		http://purl.obolibrary.org/obo/HP_0010341		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
OBO:HP_0010342	Abnormality of the phalanges of the 5th toe	biolink:OntologyClass	hp	UMLS:C4023892		http://purl.obolibrary.org/obo/HP_0010342		Abnormality of the little toe bones|Abnormality of the pinkie toe bones|Abnormality of the pinky toe bones
OBO:HP_0010343	Aplasia/Hypoplasia of the 5th toe	biolink:OntologyClass	hp	UMLS:C4023891		http://purl.obolibrary.org/obo/HP_0010343		Absent/small little toe|Absent/small pinkie toe|Absent/underdeveloped pinky toe|Absent/small pinky toe
OBO:HP_0010344	Deviation of the 5th toe	biolink:OntologyClass	hp	UMLS:C4021291		http://purl.obolibrary.org/obo/HP_0010344		Displacement of the little toe|Displacement of the pinkie toe|Displacement of the pinky toe|Displacement of the 5th toe
OBO:HP_0010345	Flexion contracture of the 5th toe	biolink:OntologyClass	hp	UMLS:C4021290	One or more bent (flexed) joints of the fifth toe that cannot be straightened actively or passively.	http://purl.obolibrary.org/obo/HP_0010345		Joint contractures of the 5th toe
OBO:HP_0010347	Aplasia/Hypoplasia of the phalanges of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4023890		http://purl.obolibrary.org/obo/HP_0010347		Absent/small bones of 2nd toe|Absent/underdeveloped bones of 2nd toe
OBO:HP_0010348	Broad phalanges of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4023889		http://purl.obolibrary.org/obo/HP_0010348		Broad bones of the 2nd toe
OBO:HP_0010349	Bullet-shaped 2nd toe phalanx	biolink:OntologyClass	hp	UMLS:C4021289	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.	http://purl.obolibrary.org/obo/HP_0010349		Bullet-shaped bones of the 2nd toe|Bullet-shaped phalanges of the 2nd toe
OBO:HP_0010350	Curved 2nd toe phalanx	biolink:OntologyClass	hp	UMLS:C4021288	A deviation from the normal straight form of one or more phalanges of the second toe.	http://purl.obolibrary.org/obo/HP_0010350		Curved bones of the 2nd toe|Curved phalanges of the 2nd toe
OBO:HP_0010351	Osteolytic defects of the phalanges of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4023888		http://purl.obolibrary.org/obo/HP_0010351		
OBO:HP_0010352	Patchy sclerosis of 2nd toe phalanx	biolink:OntologyClass	hp	UMLS:C4021287	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.	http://purl.obolibrary.org/obo/HP_0010352		Uneven increase in bone density in 2nd toe bone|Patchy sclerosis of the phalanges of the 2nd toe
OBO:HP_0010353	Symphalangism affecting the phalanges of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4023887	Fusion of the interphalangeal joints of the 2nd toe.	http://purl.obolibrary.org/obo/HP_0010353		Fused bones of 2nd toe
OBO:HP_0010354	Triangular shaped phalanges of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4023886		http://purl.obolibrary.org/obo/HP_0010354		Triangular shaped bone of 2nd toe|Triangular shaped bone of second toe
OBO:HP_0010355	Duplication of the phalanges of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4021286	Partial or complete duplication of a phalanx of second toe.	http://purl.obolibrary.org/obo/HP_0010355		Duplication of the bones of the 2nd toe|Partial/complete duplication of the phalanges of the 2nd toe
OBO:HP_0010356	Abnormality of the distal phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4023885		http://purl.obolibrary.org/obo/HP_0010356		Abnormality of the outermost bone of the 2nd toe
OBO:HP_0010357	Abnormality of the middle phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4023884		http://purl.obolibrary.org/obo/HP_0010357		Abnormality of the middle bone of the 2nd toe
OBO:HP_0010358	Abnormality of the proximal phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4023883		http://purl.obolibrary.org/obo/HP_0010358		Abnormality of the innermost bone of the 2nd toe
OBO:HP_0010359	Aplasia/Hypoplasia of the phalanges of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4023882		http://purl.obolibrary.org/obo/HP_0010359		Absent/small bones of 3rd toe|Absent/underdeveloped bones of 3rd toe
OBO:HP_0010360	Broad phalanges of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4023881		http://purl.obolibrary.org/obo/HP_0010360		Wide bones of 3rd toe
OBO:HP_0010361	Bullet-shaped 3rd toe phalanx	biolink:OntologyClass	hp	UMLS:C4021285	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.	http://purl.obolibrary.org/obo/HP_0010361		Bullet-shaped bones of 3rd toe|Bullet-shaped phalanges of the 3rd toe
OBO:HP_0010362	Curved 3rd toe phalanx	biolink:OntologyClass	hp	UMLS:C4021284	A deviation from the normal straight form of one or more phalanges of the third toe.	http://purl.obolibrary.org/obo/HP_0010362		Curved bones of 3rd toe|Curved phalanges of the 3rd toe
OBO:HP_0010363	Osteolytic defects of the phalanges of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4021825		http://purl.obolibrary.org/obo/HP_0010363		
OBO:HP_0010364	Patchy sclerosis of 3rd toe phalanx	biolink:OntologyClass	hp	UMLS:C4021283	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.	http://purl.obolibrary.org/obo/HP_0010364		Uneven increase in bone density in 3rd toe bone|Patchy sclerosis of the phalanges of the 3rd toe
OBO:HP_0010365	Symphalangism affecting the phalanges of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4023880		http://purl.obolibrary.org/obo/HP_0010365		Fused bones of 3rd toe
OBO:HP_0010366	Triangular shaped phalanges of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4023879		http://purl.obolibrary.org/obo/HP_0010366		Triangular shaped 3rd toe bones
OBO:HP_0010367	Duplication of phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4021282	Partial or complete duplication of phalanx of third toe.	http://purl.obolibrary.org/obo/HP_0010367		Duplication of 3rd toe bone|Duplication of phalanx of the third toe|Partial/complete duplication of the phalanges of the 3rd toe
OBO:HP_0010368	Abnormality of the distal phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4023878		http://purl.obolibrary.org/obo/HP_0010368		Abnormality of the outermost bone of the 3rd toe
OBO:HP_0010369	Abnormality of the middle phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4023877		http://purl.obolibrary.org/obo/HP_0010369		Abnormality of the middle bone of 3rd toe
OBO:HP_0010370	Abnormality of the proximal phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4023876	An anomaly of the proximal phalanx of third toe.	http://purl.obolibrary.org/obo/HP_0010370		Abnormality of the innermost bone of 3rd toe
OBO:HP_0010371	Aplasia/Hypoplasia of the phalanges of the 4th toe	biolink:OntologyClass	hp	UMLS:C4023875		http://purl.obolibrary.org/obo/HP_0010371		Absent/small bones of 4th toe|Absent/underdeveloped bones of 4th toe
OBO:HP_0010372	Broad phalanges of the 4th toe	biolink:OntologyClass	hp	UMLS:C4023874		http://purl.obolibrary.org/obo/HP_0010372		Broad bones of the 4th toe
OBO:HP_0010373	Bullet-shaped 4th toe phalanx	biolink:OntologyClass	hp	UMLS:C4021281	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.	http://purl.obolibrary.org/obo/HP_0010373		Bullet-shaped bones of the 4th toe|Bullet-shaped phalanges of the 4th toe
OBO:HP_0010374	Curved 4th toe phalanx	biolink:OntologyClass	hp	UMLS:C4021280	A deviation from the normal straight form of one or more phalanges of the fourth toe.	http://purl.obolibrary.org/obo/HP_0010374		Curved bones of 4th toe|Curved phalanges of the 4th toe
OBO:HP_0010375	Osteolytic defects of the phalanges of the 4th toe	biolink:OntologyClass	hp	UMLS:C4023873		http://purl.obolibrary.org/obo/HP_0010375		
OBO:HP_0010376	Patchy sclerosis of 4th toe phalanx	biolink:OntologyClass	hp	UMLS:C4021279	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.	http://purl.obolibrary.org/obo/HP_0010376		Patchy sclerosis of the phalanges of the 4th toe|Uneven increase in bone density in 4th toe bone
OBO:HP_0010377	Symphalangism affecting the phalanges of the 4th toe	biolink:OntologyClass	hp	UMLS:C4023872		http://purl.obolibrary.org/obo/HP_0010377		Fused bones of 4th toe
OBO:HP_0010378	Triangular shaped phalanges of the 4th toe	biolink:OntologyClass	hp	UMLS:C4023871		http://purl.obolibrary.org/obo/HP_0010378		Triangular shaped bones of 4th toe
OBO:HP_0010379	Duplication of phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4021278	Partial or complete duplication of phalanx of fourth toe.	http://purl.obolibrary.org/obo/HP_0010379		Duplication of 4th toe bone|Duplication of phalanx of the fourth toe|Partial/complete duplication of the phalanges of the 4th toe
OBO:HP_0010380	Abnormality of the distal phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4023870		http://purl.obolibrary.org/obo/HP_0010380		Abnormality of the outermost 4th toe bone
OBO:HP_0010381	Abnormality of the middle phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4023869		http://purl.obolibrary.org/obo/HP_0010381		Abnormality of middle 4th toe bone
OBO:HP_0010382	Abnormality of the proximal phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4023868		http://purl.obolibrary.org/obo/HP_0010382		Abnormal innermost 4th toe bone
OBO:HP_0010383	Aplasia/Hypoplasia of the phalanges of the 5th toe	biolink:OntologyClass	hp	UMLS:C4023867		http://purl.obolibrary.org/obo/HP_0010383		Absent/small little toe bones|Absent/small pinkie toe bones|Absent/underdeveloped pinky toe bones|Absent/small pinky toe bones
OBO:HP_0010384	Broad phalanges of the 5th toe	biolink:OntologyClass	hp	UMLS:C4023866		http://purl.obolibrary.org/obo/HP_0010384		Broad bones of the little toe|Broad bones of the pinkie toe|Broad bones of the pinky toe
OBO:HP_0010385	Bullet-shaped 5th toe phalanx	biolink:OntologyClass	hp	UMLS:C4021277	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.	http://purl.obolibrary.org/obo/HP_0010385		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
OBO:HP_0010386	Curved 5th toe phalanx	biolink:OntologyClass	hp	UMLS:C4021276	A deviation from the normal straight form of one or more phalanges of the fifth toe.	http://purl.obolibrary.org/obo/HP_0010386		Curved little toe bones|Curved phalanges of the 5th toe|Curved pinkie toe bones|Curved pinky toe bones
OBO:HP_0010387	Osteolytic defects of the phalanges of the 5th toe	biolink:OntologyClass	hp	UMLS:C4023865		http://purl.obolibrary.org/obo/HP_0010387		
OBO:HP_0010388	Patchy sclerosis of 5th toe phalanx	biolink:OntologyClass	hp	UMLS:C4021275	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.	http://purl.obolibrary.org/obo/HP_0010388		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
OBO:HP_0010389	Symphalangism affecting the phalanges of the 5th toe	biolink:OntologyClass	hp	UMLS:C4023864		http://purl.obolibrary.org/obo/HP_0010389		Fused bones in the little toe|Fused bones in the pinkie toe|Fused bones in the pinky toe
OBO:HP_0010390	Triangular shaped phalanges of the 5th toe	biolink:OntologyClass	hp	UMLS:C4023863		http://purl.obolibrary.org/obo/HP_0010390		Triangular shaped little toe bone|Triangular shaped pinkie toe bone|Triangular shaped pinky toe bone
OBO:HP_0010391	Duplication of the phalanges of the 5th toe	biolink:OntologyClass	hp	UMLS:C4020903	Partial or complete duplication of one or more phalanx of little toe.	http://purl.obolibrary.org/obo/HP_0010391		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
OBO:HP_0010392	Abnormality of the distal phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4023862		http://purl.obolibrary.org/obo/HP_0010392		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
OBO:HP_0010393	Abnormality of the middle phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4023861		http://purl.obolibrary.org/obo/HP_0010393		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
OBO:HP_0010394	Abnormality of the proximal phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4023860		http://purl.obolibrary.org/obo/HP_0010394		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
OBO:HP_0010395	Aplasia/hypoplasia of the proximal phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4023859	Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the 2nd toe.	http://purl.obolibrary.org/obo/HP_0010395		Absent/small innermost 2nd toe bone|Absent/underdeveloped innermost 2nd toe bone
OBO:HP_0010396	Broad proximal phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4023858		http://purl.obolibrary.org/obo/HP_0010396		Broad innermost bone of 2nd toe
OBO:HP_0010397	Bullet-shaped proximal phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4023857	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.	http://purl.obolibrary.org/obo/HP_0010397		Bullet-shaped innermost bone of 2nd toe
OBO:HP_0010398	Curved proximal phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4023856	A deviation from the normal straight form of the proximal phalanx of the 2nd toe.	http://purl.obolibrary.org/obo/HP_0010398		Curved innermost bone of 2nd toe
OBO:HP_0010399	Osteolytic defects of the proximal phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4023855		http://purl.obolibrary.org/obo/HP_0010399		
OBO:HP_0010400	Patchy sclerosis of the proximal phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4023854		http://purl.obolibrary.org/obo/HP_0010400		Uneven increase in bone density in the innermost bone of the 2nd toe
OBO:HP_0010401	Symphalangism affecting the proximal phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4023853		http://purl.obolibrary.org/obo/HP_0010401		Fused innermost bone of the 2nd toe
OBO:HP_0010402	Triangular shaped proximal phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4023852		http://purl.obolibrary.org/obo/HP_0010402		Triangular shaped innermost 2nd toe bone
OBO:HP_0010403	Duplication of the proximal phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4021274	Partial or complete duplication of proximal phalanx of second toe.	http://purl.obolibrary.org/obo/HP_0010403		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
OBO:HP_0010404	Aplasia/Hypoplasia of the middle phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4023851		http://purl.obolibrary.org/obo/HP_0010404		Absent/small middle bone of 2nd toe|Absent/underdeveloped middle bone of 2nd toe
OBO:HP_0010405	Broad middle phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4023850		http://purl.obolibrary.org/obo/HP_0010405		Broad middle bone of 2nd toe
OBO:HP_0010406	Bullet-shaped middle phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4023849	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.	http://purl.obolibrary.org/obo/HP_0010406		Bullet-shaped middle bone of 2nd toe
OBO:HP_0010407	Curved middle phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4023848	A deviation from the normal straight form of the middle phalanx of the 2nd toe.	http://purl.obolibrary.org/obo/HP_0010407		Curved middle bone of 2nd toe
OBO:HP_0010408	Osteolytic defects of the middle phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4023847		http://purl.obolibrary.org/obo/HP_0010408		
OBO:HP_0010409	Patchy sclerosis of the middle phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4023846		http://purl.obolibrary.org/obo/HP_0010409		Uneven increase in bone density in the middle bone of the 2nd toe
OBO:HP_0010410	Symphalangism affecting the middle phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4023845		http://purl.obolibrary.org/obo/HP_0010410		Fused middle bone of 2nd toe
OBO:HP_0010411	Triangular shaped middle phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4023844		http://purl.obolibrary.org/obo/HP_0010411		Triangular shaped middle bone of 2nd toe
OBO:HP_0010412	Duplication of the middle phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4021273	Partial or complete duplication of middle phalanx of second toe.	http://purl.obolibrary.org/obo/HP_0010412		Duplication of middle bone of 2nd toe|Partial/complete duplication of the middle phalanx of the 2nd toe
OBO:HP_0010413	Aplasia/Hypoplasia of the distal phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4023843		http://purl.obolibrary.org/obo/HP_0010413		Absent/small outermost 2nd toe bone|Absent/underdeveloped outermost 2nd toe bone
OBO:HP_0010414	Broad distal phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4023842		http://purl.obolibrary.org/obo/HP_0010414		Broad outermost bone of the 2nd toe|Wide outermost bone of the 2nd toe
OBO:HP_0010415	Bullet-shaped distal phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4023841	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.	http://purl.obolibrary.org/obo/HP_0010415		Bullet-shaped outermost bone of the 2nd toe
OBO:HP_0010416	Curved distal phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4023840	A deviation from the normal straight form of the distal phalanx of the 2nd toe.	http://purl.obolibrary.org/obo/HP_0010416		Curved outermost bone of the 2nd toe
OBO:HP_0010417	Osteolytic defects of the distal phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4023839		http://purl.obolibrary.org/obo/HP_0010417		
OBO:HP_0010418	Patchy sclerosis of the distal phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4023838		http://purl.obolibrary.org/obo/HP_0010418		Uneven increase in bone density in the outermost bone of the 2nd toe
OBO:HP_0010419	Symphalangism affecting the distal phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4023837		http://purl.obolibrary.org/obo/HP_0010419		Fused outermost bone of the 2nd toe
OBO:HP_0010420	Triangular shaped distal phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4023836		http://purl.obolibrary.org/obo/HP_0010420		Triangular shaped outermost 2nd toe bone
OBO:HP_0010421	Duplication of the distal phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4021272	Partial or complete duplication of the distal phalanx of second toe.	http://purl.obolibrary.org/obo/HP_0010421		Duplication of the outermost bone of the 2nd toe|Partial/complete duplication of the distal phalanx of the 2nd toe
OBO:HP_0010422	Complete duplication of the proximal phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4021271	Complete duplication of proximal phalanx of second toe.	http://purl.obolibrary.org/obo/HP_0010422		Complete duplication of the innermost 2nd toe bone|Complete duplication of the proximal phalanx of the second toe
OBO:HP_0010423	Partial duplication of the proximal phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4021270	Partial duplication of proximal phalanx of second toe.	http://purl.obolibrary.org/obo/HP_0010423		Partial duplication of the innermost 2nd toe bone|Partial duplication of the proximal phalanx of the second toe
OBO:HP_0010424	Complete duplication of the distal phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4023835	Complete duplication of the distal phalanx of second toe.	http://purl.obolibrary.org/obo/HP_0010424		Complete duplication of the outermost bone of the 2nd toe
OBO:HP_0010425	Partial duplication of the distal phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4023834	Partial duplication of the distal phalanx of second toe.	http://purl.obolibrary.org/obo/HP_0010425		Partial duplication of the outermost bone of the 2nd toe
OBO:HP_0010426	Complete duplication of the middle phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4023833	Complete duplication of middle phalanx of second toe.	http://purl.obolibrary.org/obo/HP_0010426		Complete duplication of the middle bone of the 2nd toe
OBO:HP_0010427	Partial duplication of the middle phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4023832	Partial duplication of middle phalanx of second toe.	http://purl.obolibrary.org/obo/HP_0010427		Partial duplication of the middle bone of the 2nd toe
OBO:HP_0010428	Partial duplication of phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4023831	Partial duplication of a phalanx of second toe.	http://purl.obolibrary.org/obo/HP_0010428		Partial duplication of 2nd toe bone
OBO:HP_0010429	Complete duplication of the phalanges of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4023830	Complete duplication of a phalanx of second toe.	http://purl.obolibrary.org/obo/HP_0010429		Complete duplication of the 2nd toe bones
OBO:HP_0010430	Aplasia of the phalanges of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4023829		http://purl.obolibrary.org/obo/HP_0010430		Absent 2nd toe bones
OBO:HP_0010431	Short phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4021269	Reduced length of one or more phalanx of second toe as a result of developmental hypoplasia.	http://purl.obolibrary.org/obo/HP_0010431		Short 2nd toe bone|Hypoplastic/small phalanges of the 2nd toe|Short phalanx of the second toe
OBO:HP_0010432	Absent distal phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4021268	Absence of distal phalanx of the second toe as a result of developmental aplasia.	http://purl.obolibrary.org/obo/HP_0010432		Absent outermost bone of the 2nd toe|Absent distal phalanx of the second toe|Aplasia of the distal phalanx of the 2nd toe
OBO:HP_0010433	Short distal phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4021267	Reduced length of the distal phalanx of the second toe as a result of developmental hypoplasia.	http://purl.obolibrary.org/obo/HP_0010433		Short outermost bone of the 2nd toe|Hypoplastic/small distal phalanx of the 2nd toe|Short distal phalanx of the second toe
OBO:HP_0010434	Aplasia of the middle phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4023828		http://purl.obolibrary.org/obo/HP_0010434		Absent middle bone of 2nd toe
OBO:HP_0010435	Short middle phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4021266	Reduced length of the middle phalanx of second toe as a result of developmental hypoplasia.	http://purl.obolibrary.org/obo/HP_0010435		Short middle 2nd toe bone|Hypoplastic/small middle phalanx of the 2nd toe|Short middle phalanx of the second toe
OBO:HP_0010436	Aplasia of the proximal phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4023827		http://purl.obolibrary.org/obo/HP_0010436		Absent innermost 2nd toe bone
OBO:HP_0010437	Short proximal phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4021265	Reduced length of the proximal phalanx of second toe as a result of developmental hypoplasia.	http://purl.obolibrary.org/obo/HP_0010437		Short innermost 2nd toe bone|Hypoplastic/small proximal phalanx of the 2nd toe|Short proximal phalanx of the second toe
OBO:HP_0010438	Abnormal ventricular septum morphology	biolink:OntologyClass	hp	Fyler:1815|UMLS:C4021264	A structural abnormality of the interventricular septum.	http://purl.obolibrary.org/obo/HP_0010438		Abnormal interventricular septum morphology|Abnormality of the ventricular septum|Ventricular septum abnormality
OBO:HP_0010440	Ectopic accesory toe-like appendage	biolink:OntologyClass	hp	UMLS:C4023826	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).	http://purl.obolibrary.org/obo/HP_0010440		
OBO:HP_0010441	Ectopic accessory finger-like appendage	biolink:OntologyClass	hp	UMLS:C4023825	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).	http://purl.obolibrary.org/obo/HP_0010441		
OBO:HP_0010442	Polydactyly	biolink:OntologyClass	hp	Fyler:4103|MSH:D017689|SNOMEDCT_US:367506006|UMLS:C0152427	A congenital anomaly characterized by the presence of supernumerary fingers or toes.	http://purl.obolibrary.org/obo/HP_0010442		More than five fingers or toes on hands or feet
OBO:HP_0010443	Bifid femur	biolink:OntologyClass	hp	UMLS:C4023824	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.	http://purl.obolibrary.org/obo/HP_0010443	hposlim_core	Notched thighbone|Split thighbone
OBO:HP_0010444	Pulmonary insufficiency	biolink:OntologyClass	hp	MSH:D011665|SNOMEDCT_US:91434003|UMLS:C0034088	The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole.	http://purl.obolibrary.org/obo/HP_0010444		Pulmonary incompetence|Puolmonary valve insufficiency
OBO:HP_0010445	Primum atrial septal defect	biolink:OntologyClass	hp	Fyler:1110|MSH:C536112|MSH:C548006|SNOMEDCT_US:253373002|UMLS:C0344735|UMLS:C0741296	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.	http://purl.obolibrary.org/obo/HP_0010445		Atrial septal defect, primum type|Ostium primum atrial septal defect|Primum atrioventricular canal defect|Septum primum defect
OBO:HP_0010446	Tricuspid stenosis	biolink:OntologyClass	hp	EPCC:06.01.92|ICD-10:Q22.4|MSH:D014264|SNOMEDCT_US:49915006|UMLS:C0040963	A narrowing of the orifice of the tricuspid valve of the heart.	http://purl.obolibrary.org/obo/HP_0010446		
OBO:HP_0010447	Anal fistula	biolink:OntologyClass	hp	MEDDRA:10002156|MSH:D012003|SNOMEDCT_US:72779005|UMLS:C0205929	An abnormal connection between the epithelialised surface of the anal canal and the perianal skin.	http://purl.obolibrary.org/obo/HP_0010447	hposlim_core	Fistula in ano
OBO:HP_0010448	Colonic atresia	biolink:OntologyClass	hp	MSH:C562562|SNOMEDCT_US:37054000|UMLS:C0266190	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.	http://purl.obolibrary.org/obo/HP_0010448		Atresia of the large intestine|Large intestinal atresia
OBO:HP_0010450	Esophageal stenosis	biolink:OntologyClass	hp	MSH:D004940|SNOMEDCT_US:63305008|UMLS:C0014866	An abnormal narrowing of the lumen of the esophagus.	http://purl.obolibrary.org/obo/HP_0010450		Narrowing of the esophagus
OBO:HP_0010451	Aplasia/Hypoplasia of the spleen	biolink:OntologyClass	hp	UMLS:C4023823	Absence or underdevelopment of the spleen.	http://purl.obolibrary.org/obo/HP_0010451		Absent/small spleen|Absent/underdeveloped spleen
OBO:HP_0010452	Ectopia of the spleen	biolink:OntologyClass	hp	SNOMEDCT_US:65146007|UMLS:C0266632	An abnormal (non-anatomic) location of the spleen.	http://purl.obolibrary.org/obo/HP_0010452		Abnormal spleen location|Ectopic spleen
OBO:HP_0010453	Pelvic bone asymmetry	biolink:OntologyClass	hp	UMLS:C4021263	Pelvic asymmetry refers to asymmetric positioning of landmarks on the two sides of the pelvis and may have a structural or functional etiology.	http://purl.obolibrary.org/obo/HP_0010453	hposlim_core	Pelvic asymmetry|Asymmetric pelvis
OBO:HP_0010454	Acetabular spurs	biolink:OntologyClass	hp	UMLS:C3808270	The presence of osteophytes (bone spurs), i.e., of bony projections originating from the acetabulum.	http://purl.obolibrary.org/obo/HP_0010454	hposlim_core	
OBO:HP_0010455	Steep acetabular roof	biolink:OntologyClass	hp	UMLS:C3150931	An exaggeration of the normal arched form of the acetabular roof such that it takes on a steep appearance.	http://purl.obolibrary.org/obo/HP_0010455		
OBO:HP_0010456	Abnormal greater sciatic notch morphology	biolink:OntologyClass	hp	UMLS:C4023822	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.	http://purl.obolibrary.org/obo/HP_0010456		Abnormality of greater sciatic notch|Abnormality of the greater sacrosciatic notch|Abnormality of the sacroiliac notch
OBO:HP_0010457	obsolete Widening of the sacrosciatic notch	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0010457		
OBO:HP_0010458	Female pseudohermaphroditism	biolink:OntologyClass	hp	MSH:D058489|SNOMEDCT_US:8800006|UMLS:C0238394	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.	http://purl.obolibrary.org/obo/HP_0010458		
OBO:HP_0010459	True hermaphroditism	biolink:OntologyClass	hp	MSH:D050090|SNOMEDCT_US:18978002|UMLS:C0266361	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.	http://purl.obolibrary.org/obo/HP_0010459		Testicular and ovarian tissue present
OBO:HP_0010460	Abnormality of the female genitalia	biolink:OntologyClass	hp	UMLS:C4023820	Abnormality of the female genital system.	http://purl.obolibrary.org/obo/HP_0010460		
OBO:HP_0010461	Abnormality of the male genitalia	biolink:OntologyClass	hp	UMLS:C4023819	Abnormality of the male genital system.	http://purl.obolibrary.org/obo/HP_0010461		Abnormal male genitals|Abnormality of the male genitalia
OBO:HP_0010462	Aplasia/Hypoplasia of the ovary	biolink:OntologyClass	hp	UMLS:C4023818	Aplasia or developmental hypoplasia of the ovary.	http://purl.obolibrary.org/obo/HP_0010462		Absent/small ovary|Absent/underdeveloped ovary
OBO:HP_0010463	Aplasia of the ovary	biolink:OntologyClass	hp	SNOMEDCT_US:12017008|UMLS:C0266368	Aplasia, that is failure to develop, of the ovary.	http://purl.obolibrary.org/obo/HP_0010463		Absent ovary|Aplasia of the ovaries|Bilateral absent ovaries
OBO:HP_0010464	Streak ovary	biolink:OntologyClass	hp	SNOMEDCT_US:70550008|UMLS:C0266371	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.	http://purl.obolibrary.org/obo/HP_0010464		
OBO:HP_0010465	Precocious puberty in females	biolink:OntologyClass	hp	SNOMEDCT_US:19911007|UMLS:C0271616	The onset of puberty before the age of 8 years in girls.	http://purl.obolibrary.org/obo/HP_0010465		
OBO:HP_0010468	Aplasia/Hypoplasia of the testes	biolink:OntologyClass	hp	UMLS:C4023817	Absence or underdevelopment of the testes.	http://purl.obolibrary.org/obo/HP_0010468		Absent/small testes|Absent/underdeveloped testes
OBO:HP_0010469	Absent testis	biolink:OntologyClass	hp	UMLS:C4023816	Testis not palpable in the scrotum or inguinal canal.	http://purl.obolibrary.org/obo/HP_0010469		Absent testes|Absence of palpable testicules|Aplasia of the testes
OBO:HP_0010470	Supernumerary testes	biolink:OntologyClass	hp	SNOMEDCT_US:17471001|UMLS:C0266430	The presence of more than two testes.	http://purl.obolibrary.org/obo/HP_0010470		Extra testes|Polyorchidism
OBO:HP_0010471	Oligosacchariduria	biolink:OntologyClass	hp	UMLS:C4023815	Increased urinary excretion of oligosaccharides (low molecular weight carbohydrate chains composed of at least three monosaccharide subunits), derived from a partial degradation of glycoproteins.	http://purl.obolibrary.org/obo/HP_0010471		
OBO:HP_0010472	Abnormal circulating porphyrin concentration	biolink:OntologyClass	hp	UMLS:C4023814	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.	http://purl.obolibrary.org/obo/HP_0010472		
OBO:HP_0010473	Porphyrinuria	biolink:OntologyClass	hp	SNOMEDCT_US:44574006|UMLS:C0151861	Abnormally increased excretion of porphyrins in the urine.	http://purl.obolibrary.org/obo/HP_0010473		
OBO:HP_0010474	Bladder stones	biolink:OntologyClass	hp	MSH:D001744|SNOMEDCT_US:70650003|UMLS:C0005683	Buildups of minerals that form in the urinary bladder.	http://purl.obolibrary.org/obo/HP_0010474		
OBO:HP_0010475	Cloacal exstrophy	biolink:OntologyClass	hp	SNOMEDCT_US:20815007|UMLS:C0345217	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.	http://purl.obolibrary.org/obo/HP_0010475		
OBO:HP_0010476	Aplasia/Hypoplasia of the bladder	biolink:OntologyClass	hp	UMLS:C4023813	Absence or underdevelopment of the urinary bladder.	http://purl.obolibrary.org/obo/HP_0010476		Absent/small bladder|Absent/underdeveloped bladder
OBO:HP_0010477	Aplasia of the bladder	biolink:OntologyClass	hp	UMLS:C4023812	Aplasia (absence) of the urinary bladder.	http://purl.obolibrary.org/obo/HP_0010477		Absent bladder
OBO:HP_0010478	Abnormality of the urachus	biolink:OntologyClass	hp	UMLS:C4023811	Abnormality of the urachus.	http://purl.obolibrary.org/obo/HP_0010478		
OBO:HP_0010479	Patent urachus	biolink:OntologyClass	hp	SNOMEDCT_US:398316009|UMLS:C0266357	Persistence of the urachal canal resulting in a canal between the bladder and the umbilicus.	http://purl.obolibrary.org/obo/HP_0010479		Persistent urachus
OBO:HP_0010480	Urethral fistula	biolink:OntologyClass	hp	SNOMEDCT_US:14981000|UMLS:C0041970	The presence of an abnormal connection between the urethra and another organ or the skin.	http://purl.obolibrary.org/obo/HP_0010480		
OBO:HP_0010481	Urethral valve	biolink:OntologyClass	hp	SNOMEDCT_US:297163001|UMLS:C0266345	The presence of an abnormal membrane obstructing the urethra.	http://purl.obolibrary.org/obo/HP_0010481		
OBO:HP_0010482	Acromelia of the upper limbs	biolink:OntologyClass	hp	UMLS:C4023810	Shortening of the arms predominantly affecting terminal parts of the arm in relation to the upper and middle limb segments.	http://purl.obolibrary.org/obo/HP_0010482		
OBO:HP_0010483	Amniotic constriction rings of arms	biolink:OntologyClass	hp	UMLS:C4023809	Amniotic constriction rings affecting the arms.	http://purl.obolibrary.org/obo/HP_0010483		
OBO:HP_0010484	Hypertrophy of the upper limb	biolink:OntologyClass	hp	SNOMEDCT_US:298745009|UMLS:C0575518	Abnormal increase in size of the upper limbs (due to an increase of the size of cells).	http://purl.obolibrary.org/obo/HP_0010484		Increased size of upper limb
OBO:HP_0010485	Hyperextensibility at elbow	biolink:OntologyClass	hp	UMLS:C4023808	The ability of the elbow joint to move beyond its normal range of motion.	http://purl.obolibrary.org/obo/HP_0010485		
OBO:HP_0010486	Abnormality of the hypothenar eminence	biolink:OntologyClass	hp	UMLS:C4023807	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).	http://purl.obolibrary.org/obo/HP_0010486		
OBO:HP_0010487	Small hypothenar eminence	biolink:OntologyClass	hp	UMLS:C1861395	Reduced muscle mass on the ulnar side of the palm, that is, reduction in size of the hypothenar eminence.	http://purl.obolibrary.org/obo/HP_0010487	hposlim_core	Hypoplasia of the hypothenar eminence|Hypothenar hypoplasia
OBO:HP_0010488	Aplasia/Hypoplasia of the palmar creases	biolink:OntologyClass	hp	UMLS:C4023806	Absence or underdevelopment of the palmar creases.	http://purl.obolibrary.org/obo/HP_0010488		Absent/small palm crease|Absent/underdeveloped palm crease
OBO:HP_0010489	Absent palmar crease	biolink:OntologyClass	hp	UMLS:C4021262	The absence of the major creases of the palm (distal transverse crease, proximal transverse crease, or thenar crease).	http://purl.obolibrary.org/obo/HP_0010489	hposlim_core	Absent palm lines|Absence of the palmar creases|Aplasia of the palmar creases
OBO:HP_0010490	Abnormality of the palmar creases	biolink:OntologyClass	hp	SNOMEDCT_US:205557000|UMLS:C0221199	An abnormality of the creases of the skin of palm of hand.	http://purl.obolibrary.org/obo/HP_0010490	hposlim_core	Abnormality of the palm lines
OBO:HP_0010491	Digital constriction ring	biolink:OntologyClass	hp	UMLS:C4021261	A narrow segment of significantly reduced circumference of a digit.	http://purl.obolibrary.org/obo/HP_0010491	hposlim_core	Amniotic constriction rings of digits
OBO:HP_0010492	Osseous finger syndactyly	biolink:OntologyClass	hp	SNOMEDCT_US:2560006|UMLS:C0158736	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".	http://purl.obolibrary.org/obo/HP_0010492	hposlim_core	Osseous syndactyly of the fingers
OBO:HP_0010493	Long metacarpals	biolink:OntologyClass	hp	UMLS:C4021260	An abnormally increased length of the metacarpal bones.	http://purl.obolibrary.org/obo/HP_0010493	hposlim_core	Elongated long bone of hand|Increased length of metacarpals
OBO:HP_0010494	Acromelia of the lower limbs	biolink:OntologyClass	hp	UMLS:C4023805	Shortening of the legs predominantly affecting terminal parts of the leg in relation to the upper and middle arm segments.	http://purl.obolibrary.org/obo/HP_0010494		
OBO:HP_0010495	Amniotic constriction rings of legs	biolink:OntologyClass	hp	UMLS:C4023804	Amniotic constriction rings affecting the legs.	http://purl.obolibrary.org/obo/HP_0010495		
OBO:HP_0010496	Hypertrophy of the lower limb	biolink:OntologyClass	hp	UMLS:C4023803	Abnormal increase in size of the lower limbs (due to an increase of the size of cells).	http://purl.obolibrary.org/obo/HP_0010496		
OBO:HP_0010497	Sirenomelia	biolink:OntologyClass	hp	MEDDRA:10049216|MSH:D004480|SNOMEDCT_US:253191000|SNOMEDCT_US:67254002|SNOMEDCT_US:91089008|UMLS:C0037205	A developmental defect in which the legs are fused together.	http://purl.obolibrary.org/obo/HP_0010497	hposlim_core	Sympodia
OBO:HP_0010498	Bipartite patella	biolink:OntologyClass	hp	SNOMEDCT_US:79214007|UMLS:C0265666	A developmental defect that occurs if the two halves of the patella fail to fuse in early childhood.	http://purl.obolibrary.org/obo/HP_0010498	hposlim_core	
OBO:HP_0010499	Patellar subluxation	biolink:OntologyClass	hp	UMLS:C0857276	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.	http://purl.obolibrary.org/obo/HP_0010499		Partial knee cap dislocation|Subluxation of patella
OBO:HP_0010500	Hyperextensibility of the knee	biolink:OntologyClass	hp	UMLS:C4023802	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).	http://purl.obolibrary.org/obo/HP_0010500		
OBO:HP_0010501	Limitation of knee mobility	biolink:OntologyClass	hp	UMLS:C4021259	An abnormal limitation of knee joint mobility.	http://purl.obolibrary.org/obo/HP_0010501		Limitation of knee mobility|Limited knee movement
OBO:HP_0010502	Fibular bowing	biolink:OntologyClass	hp	UMLS:C4023801	A bending or abnormal curvature of the fibula.	http://purl.obolibrary.org/obo/HP_0010502		Bowed calf bone
OBO:HP_0010503	Fibular duplication	biolink:OntologyClass	hp	UMLS:C3276742	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.	http://purl.obolibrary.org/obo/HP_0010503	hposlim_core	Duplicated calf bone
OBO:HP_0010504	Increased length of the tibia	biolink:OntologyClass	hp	UMLS:C4021864	An abnormal increase in the length of the tibia.	http://purl.obolibrary.org/obo/HP_0010504		Increased length of shankbone|Increased length of shinbone
OBO:HP_0010505	Limitation of movement at ankles	biolink:OntologyClass	hp	UMLS:C4023800	An abnormal limitation of the mobility of the ankle joint.	http://purl.obolibrary.org/obo/HP_0010505		
OBO:HP_0010506	Abnormal plantar dermatoglyphics	biolink:OntologyClass	hp	UMLS:C4021258	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.	http://purl.obolibrary.org/obo/HP_0010506		Abnormal prints on feet|Abnormal dermatoglyphics on feet
OBO:HP_0010507	Foot asymmetry	biolink:OntologyClass	hp	UMLS:C4023799	A difference in size or shape between the left and right foot.	http://purl.obolibrary.org/obo/HP_0010507		
OBO:HP_0010508	Metatarsus valgus	biolink:OntologyClass	hp	MSH:D000070591|UMLS:C4082144	A condition in which the anterior part of the foot rotates outward away from the midline of the body and the heel remains straight.	http://purl.obolibrary.org/obo/HP_0010508		
OBO:HP_0010509	Aplasia of the tarsal bones	biolink:OntologyClass	hp	UMLS:C4021257	Absence of the tarsal bones.	http://purl.obolibrary.org/obo/HP_0010509		Absent ankle bone|Absent tarsals
OBO:HP_0010510	Hypermobility of toe joints	biolink:OntologyClass	hp	UMLS:C4023798	An ability of the toe joints to move beyond their normal range of motion.	http://purl.obolibrary.org/obo/HP_0010510		
OBO:HP_0010511	Long toe	biolink:OntologyClass	hp	UMLS:C3150613	Toes that appear disproportionately long compared to the foot.	http://purl.obolibrary.org/obo/HP_0010511	hposlim_core	Increased length of toes|Long toe|Long toes
OBO:HP_0010512	Adrenal calcification	biolink:OntologyClass	hp	SNOMEDCT_US:12286000|UMLS:C0271750	Calcification within the adrenal glands.	http://purl.obolibrary.org/obo/HP_0010512		
OBO:HP_0010513	Pituitary calcification	biolink:OntologyClass	hp	UMLS:C4023797	Deposition of calcium salts in the pituitary gland.	http://purl.obolibrary.org/obo/HP_0010513		
OBO:HP_0010514	Hyperpituitarism	biolink:OntologyClass	hp	MSH:D006964|SNOMEDCT_US:10649000|UMLS:C0020506	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.	http://purl.obolibrary.org/obo/HP_0010514		
OBO:HP_0010515	Aplasia/Hypoplasia of the thymus	biolink:OntologyClass	hp	UMLS:C3278004|UMLS:C4023796	Absence or underdevelopment of the thymus.	http://purl.obolibrary.org/obo/HP_0010515		Absent/small thymus|Absent/underdeveloped thymus|Thymic hypoplasia or aplasia
OBO:HP_0010516	Thymus hyperplasia	biolink:OntologyClass	hp	MSH:D013952|UMLS:C0040115	Enlargement of the thymus.	http://purl.obolibrary.org/obo/HP_0010516		Enlarged thymus|Thymic hyperplasia
OBO:HP_0010517	Ectopic thymus tissue	biolink:OntologyClass	hp	UMLS:C4023795	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.	http://purl.obolibrary.org/obo/HP_0010517		Abnormal thymus position
OBO:HP_0010518	Thyroglossal cyst	biolink:OntologyClass	hp	MSH:D013955|SNOMEDCT_US:39462005|UMLS:C0040124	An abnormality of the thyroid gland owing to the presence of a fibrous cyst resulting from the persistence of the thyroglossal duct.	http://purl.obolibrary.org/obo/HP_0010518	hposlim_core	Thyroglossal duct cyst
OBO:HP_0010519	Increased fetal movement	biolink:OntologyClass	hp	UMLS:C4021256	An abnormal increase in quantity or strength of fetal movements.	http://purl.obolibrary.org/obo/HP_0010519		Increased foetal movement|Fetal hyperkinesia
OBO:HP_0010521	Gait apraxia	biolink:OntologyClass	hp	MSH:D020235|SNOMEDCT_US:30767006|UMLS:C1510417	Gait apraxia affecting the ability to make walking movements with the legs.	http://purl.obolibrary.org/obo/HP_0010521		
OBO:HP_0010522	Dyslexia	biolink:OntologyClass	hp	MSH:D004410|SNOMEDCT_US:52824009|SNOMEDCT_US:59770006|SNOMEDCT_US:9236007|UMLS:C0476254	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).	http://purl.obolibrary.org/obo/HP_0010522		Reading disability
OBO:HP_0010523	Alexia	biolink:OntologyClass	hp	MSH:D004410|SNOMEDCT_US:9236007|UMLS:C0002018	An acquired type of sensory aphasia where damage to the brain leads to the loss of the ability to read.	http://purl.obolibrary.org/obo/HP_0010523		Text blindness|Word blindness
OBO:HP_0010524	Agnosia	biolink:OntologyClass	hp	MSH:D000377|SNOMEDCT_US:42341009|UMLS:C0001816	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.	http://purl.obolibrary.org/obo/HP_0010524		
OBO:HP_0010525	Finger agnosia	biolink:OntologyClass	hp	MSH:D000377|SNOMEDCT_US:3449007|UMLS:C0234509	An inability or difficulty differentiating among the fingers of either hand as well as the hands of others.	http://purl.obolibrary.org/obo/HP_0010525		
OBO:HP_0010526	Dysgraphia	biolink:OntologyClass	hp	MSH:D000381|SNOMEDCT_US:88278002|UMLS:C0234144	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.	http://purl.obolibrary.org/obo/HP_0010526		
OBO:HP_0010527	Astereognosia	biolink:OntologyClass	hp	MSH:D000377|SNOMEDCT_US:25094008|UMLS:C0234505	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.	http://purl.obolibrary.org/obo/HP_0010527		Astereognosis|Somatosensory agnosia
OBO:HP_0010528	Prosopagnosia	biolink:OntologyClass	hp	MSH:D020238|SNOMEDCT_US:18358003|UMLS:C0234512	Inability to recognize faces of familiar persons.	http://purl.obolibrary.org/obo/HP_0010528		Face blindness|Facial agnosia
OBO:HP_0010529	Echolalia	biolink:OntologyClass	hp	MSH:D004454|SNOMEDCT_US:64712007|UMLS:C0013528|UMLS:C4280380	The tendency to repeat vocalizations made by another person.	http://purl.obolibrary.org/obo/HP_0010529		Repeated speech|Echoing another person's speech|Echologia|Echophrasia
OBO:HP_0010530	Palatal myoclonus	biolink:OntologyClass	hp	MSH:D009207|SNOMEDCT_US:9366002|UMLS:C0030214	Palatal myoclonus is characterized by myoclonic (rhythmic involuntary jerky) movements of the soft palate.	http://purl.obolibrary.org/obo/HP_0010530		
OBO:HP_0010531	Spinal myoclonus	biolink:OntologyClass	hp	SNOMEDCT_US:698836007|UMLS:C3697670	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.	http://purl.obolibrary.org/obo/HP_0010531		
OBO:HP_0010532	Paroxysmal vertigo	biolink:OntologyClass	hp	MSH:D014717|SNOMEDCT_US:103290003|UMLS:C0522357	Paroxysmal episodes of vertigo.	http://purl.obolibrary.org/obo/HP_0010532		
OBO:HP_0010533	Spasmus nutans	biolink:OntologyClass	hp	MSH:D013036|SNOMEDCT_US:18191000|UMLS:C0546878	The combination of pendular nystagmus, head nodding, and torticollis.	http://purl.obolibrary.org/obo/HP_0010533		
OBO:HP_0010534	Transient global amnesia	biolink:OntologyClass	hp	MSH:D020236|SNOMEDCT_US:230736007|UMLS:C0338591	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.	http://purl.obolibrary.org/obo/HP_0010534		
OBO:HP_0010535	Sleep apnea	biolink:OntologyClass	hp	MSH:D012891|SNOMEDCT_US:73430006|UMLS:C0037315	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.	http://purl.obolibrary.org/obo/HP_0010535		Pauses in breathing while sleeping|Sleep apnoea
OBO:HP_0010536	Central sleep apnea	biolink:OntologyClass	hp	MSH:D020182|UMLS:C0520680	Sleep apnea resulting from a transient abolition of the central drive to the ventilatory muscles.	http://purl.obolibrary.org/obo/HP_0010536		Central sleep apnoea
OBO:HP_0010537	Wide cranial sutures	biolink:OntologyClass	hp	SNOMEDCT_US:268855009|UMLS:C0410935	An abnormally increased width of the cranial sutures for age-related norms (generally resulting from delayed closure).	http://purl.obolibrary.org/obo/HP_0010537	hposlim_core	Large cranial suture|Persistent open cranial sutures|Broad cranial sutures|Widened cranial sutures|open cranial sutures
OBO:HP_0010538	Small sella turcica	biolink:OntologyClass	hp	UMLS:C4023794|UMLS:C4072875|UMLS:C4072876	An abnormally small sella turcica.	http://purl.obolibrary.org/obo/HP_0010538	hposlim_core	Small hypophyseal fossa|Small pituitary fossa|Hypoplasia of sella turcica|Hypoplasia of hypophseal fossa|Hypoplasia of pituitary fossa
OBO:HP_0010539	Thin calvarium	biolink:OntologyClass	hp	UMLS:C1856231|UMLS:C4280379	The presence of an abnormally thin calvarium.	http://purl.obolibrary.org/obo/HP_0010539	hposlim_core	Thin skull bone|Thin cranial bone
OBO:HP_0010540	Advanced pneumatization of cranial sinuses	biolink:OntologyClass	hp	UMLS:C4023793	A degree of pneumatization that is increased compared to age-related norms.	http://purl.obolibrary.org/obo/HP_0010540		
OBO:HP_0010541	Cutis gyrata of scalp	biolink:OntologyClass	hp	SNOMEDCT_US:51603000|UMLS:C0263417|UMLS:C4072877|UMLS:C4280378	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.	http://purl.obolibrary.org/obo/HP_0010541		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
OBO:HP_0010542	Vestibular nystagmus	biolink:OntologyClass	hp	SNOMEDCT_US:46888001|UMLS:C0155379	Nystagmus due to disturbance of the vestibular system; eye movements are rhythmic, with slow and fast components.	http://purl.obolibrary.org/obo/HP_0010542		
OBO:HP_0010543	Opsoclonus	biolink:OntologyClass	hp	MSH:D015835|SNOMEDCT_US:194177006|UMLS:C0242567	Bursts of large-amplitude multidirectional saccades without intersaccadic interval	http://purl.obolibrary.org/obo/HP_0010543		
OBO:HP_0010544	Vertical nystagmus	biolink:OntologyClass	hp	MSH:D009759|SNOMEDCT_US:111533001|UMLS:C0271386	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.	http://purl.obolibrary.org/obo/HP_0010544	hposlim_core	
OBO:HP_0010545	Downbeat nystagmus	biolink:OntologyClass	hp	SNOMEDCT_US:307676006|UMLS:C0585544	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.	http://purl.obolibrary.org/obo/HP_0010545		
OBO:HP_0010546	Muscle fibrillation	biolink:OntologyClass	hp	SNOMEDCT_US:41405005|UMLS:C0231531	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.	http://purl.obolibrary.org/obo/HP_0010546		Twitching
OBO:HP_0010547	Muscle flaccidity	biolink:OntologyClass	hp	MSH:D009123|SNOMEDCT_US:186611004|SNOMEDCT_US:397488002|UMLS:C0026825	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.	http://purl.obolibrary.org/obo/HP_0010547		
OBO:HP_0010548	Percussion myotonia	biolink:OntologyClass	hp	MSH:D009222|UMLS:C0751359	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).	http://purl.obolibrary.org/obo/HP_0010548		Transient swelling of muscle induced by percussion
OBO:HP_0010549	Weakness due to upper motor neuron dysfunction	biolink:OntologyClass	hp	UMLS:C4021255	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.	http://purl.obolibrary.org/obo/HP_0010549		Paralysis due to lesions of the principle motor tracts
OBO:HP_0010550	Paraplegia	biolink:OntologyClass	hp	MSH:D010264|SNOMEDCT_US:60389000|UMLS:C0030486	Severe or complete weakness of both lower extremities with sparing of the upper extremities.	http://purl.obolibrary.org/obo/HP_0010550		Leg paralysis
OBO:HP_0010551	Paraplegia/paraparesis	biolink:OntologyClass	hp	UMLS:C4023792	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.	http://purl.obolibrary.org/obo/HP_0010551		
OBO:HP_0010553	Oculogyric crisis	biolink:OntologyClass	hp	SNOMEDCT_US:5332004|UMLS:C0085637	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.	http://purl.obolibrary.org/obo/HP_0010553		
OBO:HP_0010554	Cutaneous finger syndactyly	biolink:OntologyClass	hp	UMLS:C4021254	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.	http://purl.obolibrary.org/obo/HP_0010554	hposlim_core	Webbed fingers|Webbed skin of fingers|Cutaneous syndactyly of fingers|Cutaneous syndactyly of hands
OBO:HP_0010557	Overlapping fingers	biolink:OntologyClass	hp	UMLS:C1446712	A finger resting on the dorsal surface of an adjacent digit when the hand is at rest.	http://purl.obolibrary.org/obo/HP_0010557	hposlim_core	
OBO:HP_0010558	Abnormality of the clivus	biolink:OntologyClass	hp	UMLS:C4023791	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.	http://purl.obolibrary.org/obo/HP_0010558		
OBO:HP_0010559	Vertical clivus	biolink:OntologyClass	hp	UMLS:C1844702	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).	http://purl.obolibrary.org/obo/HP_0010559		
OBO:HP_0010560	Undulate clavicles	biolink:OntologyClass	hp	UMLS:C4021253	An abnormally wavy surface or edge of the clavicles.	http://purl.obolibrary.org/obo/HP_0010560		Wavy collarbone|Wavy clavicles
OBO:HP_0010561	Undulate ribs	biolink:OntologyClass	hp	UMLS:C1969185	An abnormally wavy surface or edge of the ribs.	http://purl.obolibrary.org/obo/HP_0010561		Wavy ribs
OBO:HP_0010562	Keloids	biolink:OntologyClass	hp	MEDDRA:10023330|MSH:D007627|SNOMEDCT_US:33659008|SNOMEDCT_US:58405006|UMLS:C0022548		http://purl.obolibrary.org/obo/HP_0010562	hposlim_core	
OBO:HP_0010564	Bifid epiglottis	biolink:OntologyClass	hp	SNOMEDCT_US:232412004|UMLS:C0339864	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.	http://purl.obolibrary.org/obo/HP_0010564		
OBO:HP_0010565	Aplasia/Hypoplasia of the Epiglottis	biolink:OntologyClass	hp	UMLS:C4023790	This term applies if the Epiglottis is absent or hypoplastic.	http://purl.obolibrary.org/obo/HP_0010565		
OBO:HP_0010566	Hamartoma	biolink:OntologyClass	hp	MSH:D006222|SNOMEDCT_US:400006008|SNOMEDCT_US:51398009|UMLS:C0018552	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.	http://purl.obolibrary.org/obo/HP_0010566		
OBO:HP_0010567	Y-shaped metatarsals	biolink:OntologyClass	hp	UMLS:C4023789	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.	http://purl.obolibrary.org/obo/HP_0010567		Y-shaped long bone of foot
OBO:HP_0010568	Hamartoma of the eye	biolink:OntologyClass	hp	UMLS:C4023788	A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the eye.	http://purl.obolibrary.org/obo/HP_0010568		
OBO:HP_0010569	Elevated 7-dehydrocholesterol	biolink:OntologyClass	hp	UMLS:C1849185	Elevated 7-dehydrocholesterol levels.	http://purl.obolibrary.org/obo/HP_0010569		Elevated levels of cholesta-5,7-dien-3beta-ol
OBO:HP_0010570	Low maternal serum alpha-fetoprotein	biolink:OntologyClass	hp	UMLS:C4023787	An abnormally low concentration of serum alpha-fetoprotein as compared to normal values for gestational-age.	http://purl.obolibrary.org/obo/HP_0010570		Low maternal serum alpha-fetoprotein
OBO:HP_0010571	Elevated levels of phytanic acid	biolink:OntologyClass	hp	UMLS:C4023786	An abnormal elevation of phytanic acid.	http://purl.obolibrary.org/obo/HP_0010571		Elevated levels of phytanic acid
OBO:HP_0010574	Abnormality of the epiphysis of the femoral head	biolink:OntologyClass	hp	UMLS:C4021252	Any abnormality of the proximal epiphysis of the femur.	http://purl.obolibrary.org/obo/HP_0010574		Abnormality of the end part of the innermost thighbone|Abnormality of the proximal femoral epiphysis
OBO:HP_0010575	Dysplasia of the femoral head	biolink:OntologyClass	hp	UMLS:C4021251|UMLS:C4280377	The presence of developmental dysplasia of the femoral head.	http://purl.obolibrary.org/obo/HP_0010575		Abnormality of femoral head development|Dysplastic femoral head
OBO:HP_0010576	Intracranial cystic lesion	biolink:OntologyClass	hp	UMLS:C4021250	A cystic lesion originating within the brain.	http://purl.obolibrary.org/obo/HP_0010576		Cerebral cystic malformation
OBO:HP_0010577	Absent epiphyses	biolink:OntologyClass	hp	UMLS:C4021862		http://purl.obolibrary.org/obo/HP_0010577		Absent end part of bone
OBO:HP_0010578	Bracket epiphyses	biolink:OntologyClass	hp	UMLS:C4023785		http://purl.obolibrary.org/obo/HP_0010578		Bracket shaped end part of long bone
OBO:HP_0010579	Cone-shaped epiphysis	biolink:OntologyClass	hp	UMLS:C1865037	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.	http://purl.obolibrary.org/obo/HP_0010579		Cone-shaped end part of bone|Cone-shaped epiphyses
OBO:HP_0010580	Enlarged epiphyses	biolink:OntologyClass	hp	UMLS:C1833328	Increased size of epiphyses.	http://purl.obolibrary.org/obo/HP_0010580		Large end part of bone|Large epiphyses|Widened, distorted epiphyses
OBO:HP_0010582	Irregular epiphyses	biolink:OntologyClass	hp	UMLS:C1846449	An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance.	http://purl.obolibrary.org/obo/HP_0010582		Irregular end part of long bone
OBO:HP_0010583	Ivory epiphyses	biolink:OntologyClass	hp	UMLS:C1856911	Sclerosis of the epiphyses, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.	http://purl.obolibrary.org/obo/HP_0010583		Increased bone density in end part of bone|Epiphyseal sclerosis
OBO:HP_0010584	Pseudoepiphyses	biolink:OntologyClass	hp	UMLS:C1841685		http://purl.obolibrary.org/obo/HP_0010584		
OBO:HP_0010585	Small epiphyses	biolink:OntologyClass	hp	UMLS:C1846803	Reduction in the size or volume of epiphyses.	http://purl.obolibrary.org/obo/HP_0010585		Small end part of bone
OBO:HP_0010587	Triangular epiphyses	biolink:OntologyClass	hp	UMLS:C4023784		http://purl.obolibrary.org/obo/HP_0010587		Triangular end part of bone
OBO:HP_0010588	Premature epimetaphyseal fusion	biolink:OntologyClass	hp	SNOMEDCT_US:89493005|UMLS:C0151628	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.	http://purl.obolibrary.org/obo/HP_0010588		Premature closure of epiphyses
OBO:HP_0010590	Abnormality of the distal femoral epiphysis	biolink:OntologyClass	hp	UMLS:C4023783	Any abnormality of the distal epiphysis of the femur.	http://purl.obolibrary.org/obo/HP_0010590		Abnormality of the end part of the outermost thighbone
OBO:HP_0010591	Abnormality of the proximal tibial epiphysis	biolink:OntologyClass	hp	UMLS:C4023782	Any abnormality of the proximal epiphysis of the tibia.	http://purl.obolibrary.org/obo/HP_0010591		Abnormality of the end part of innermost shankbone|Abnormality of the end part of innermost shinbone
OBO:HP_0010592	Abnormality of the distal tibial epiphysis	biolink:OntologyClass	hp	UMLS:C4023781		http://purl.obolibrary.org/obo/HP_0010592		Abnormality of the end part of outermost shankbone|Abnormality of the end part of outermost shinbone
OBO:HP_0010593	Abnormality of fibular epiphyses	biolink:OntologyClass	hp	UMLS:C4023780		http://purl.obolibrary.org/obo/HP_0010593		Abnormality of the end part of the calf bone
OBO:HP_0010594	Abnormality of the proximal fibular epiphysis	biolink:OntologyClass	hp	UMLS:C4023779	Any abnormality of the proximal epiphysis of the fibula.	http://purl.obolibrary.org/obo/HP_0010594		Abnormality of the innermost end part of calf bone
OBO:HP_0010595	Abnormality of the distal fibular epiphysis	biolink:OntologyClass	hp	UMLS:C4023778	Any abnormality of the distal epiphysis of the fibula.	http://purl.obolibrary.org/obo/HP_0010595		Abnormality of the outermost end part of calf bone
OBO:HP_0010596	Abnormality of the proximal radial epiphysis	biolink:OntologyClass	hp	UMLS:C4023777	Any abnormality of the proximal epiphysis of the radius.	http://purl.obolibrary.org/obo/HP_0010596		
OBO:HP_0010597	Abnormality of the distal radial epiphysis	biolink:OntologyClass	hp	UMLS:C4023776	Any abnormality of the distal epiphysis of the radius.	http://purl.obolibrary.org/obo/HP_0010597		
OBO:HP_0010598	Abnormality of the proximal humeral epiphysis	biolink:OntologyClass	hp	UMLS:C4023775	Any abnormality of the proximal epiphysis of the humerus.	http://purl.obolibrary.org/obo/HP_0010598		Abnormality of the end part of the innermost long bone in upper arm
OBO:HP_0010599	Abnormality of the distal humeral epiphysis	biolink:OntologyClass	hp	UMLS:C4023774	Any abnormality of the distal epiphysis of the humerus.	http://purl.obolibrary.org/obo/HP_0010599		Abnormality of the end part of the outermost long bone in upper arm
OBO:HP_0010600	Abnormality of the distal ulnar epiphysis	biolink:OntologyClass	hp	UMLS:C4023773	Any abnormality of the distal epiphysis of the ulna.	http://purl.obolibrary.org/obo/HP_0010600		
OBO:HP_0010601	Abnormality of the proximal ulnar epiphysis	biolink:OntologyClass	hp	UMLS:C4023772	Any abnormality of the proximal epiphysis of the ulna.	http://purl.obolibrary.org/obo/HP_0010601		
OBO:HP_0010602	Type 2 muscle fiber predominance	biolink:OntologyClass	hp	UMLS:C3277187	An abnormal predominance of type II muscle fibers (in general, this feature can only be observed on muscle biopsy).	http://purl.obolibrary.org/obo/HP_0010602		Type 2 muscle fibre predominance|Type II muscle fiber predominance
OBO:HP_0010603	Odontogenic keratocysts of the jaw	biolink:OntologyClass	hp	UMLS:C1708604	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.	http://purl.obolibrary.org/obo/HP_0010603		Keratocystic odontogenic tumor|Keratocysts of the jaw
OBO:HP_0010604	Cyst of the eyelid	biolink:OntologyClass	hp	SNOMEDCT_US:248514008|SNOMEDCT_US:301913002|SNOMEDCT_US:46210008|UMLS:C0155218|UMLS:C0424844|UMLS:C0578590		http://purl.obolibrary.org/obo/HP_0010604		Lesion of the eyelid|Cyst of the eyelid|Eyelid bump|Eyelid mass
OBO:HP_0010605	Chalazion	biolink:OntologyClass	hp	MSH:D017043|SNOMEDCT_US:1482004|UMLS:C0007933	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.	http://purl.obolibrary.org/obo/HP_0010605		Meibomian gland lipogranuloma
OBO:HP_0010606	Hordeolum	biolink:OntologyClass	hp	MSH:D006726|SNOMEDCT_US:1489008|SNOMEDCT_US:397513003|UMLS:C0019917|UMLS:C4280376	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.	http://purl.obolibrary.org/obo/HP_0010606		Stye of eyelid|Red bump on eyelid
OBO:HP_0010607	Hordeolum externum	biolink:OntologyClass	hp	SNOMEDCT_US:1489008|UMLS:C0019919	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.	http://purl.obolibrary.org/obo/HP_0010607		
OBO:HP_0010608	Hordeolum internum	biolink:OntologyClass	hp	SNOMEDCT_US:414521009|UMLS:C0085690|UMLS:C4280375	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.	http://purl.obolibrary.org/obo/HP_0010608		Stye of inner eyelid|Red bump on inner eyelid
OBO:HP_0010609	Skin tags	biolink:OntologyClass	hp	SNOMEDCT_US:201091002|SNOMEDCT_US:31069005|SNOMEDCT_US:80801001|UMLS:C0037293	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.	http://purl.obolibrary.org/obo/HP_0010609		Acrochorda
OBO:HP_0010610	Palmar pits	biolink:OntologyClass	hp	SNOMEDCT_US:247449001|UMLS:C0423776		http://purl.obolibrary.org/obo/HP_0010610		
OBO:HP_0010612	Plantar pits	biolink:OntologyClass	hp	UMLS:C1852301	The presence of multiple pits (small, pinpoint-large indentations on the surface of the skin) located on the skin of sole of foot.	http://purl.obolibrary.org/obo/HP_0010612		
OBO:HP_0010614	Fibroma	biolink:OntologyClass	hp	MSH:D005350|NCIT:C3041|SNOMEDCT_US:112682009|SNOMEDCT_US:424568000|UMLS:C0016045	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.	http://purl.obolibrary.org/obo/HP_0010614		
OBO:HP_0010615	Angiofibromas	biolink:OntologyClass	hp	MSH:D018322|NCIT:C3799|SNOMEDCT_US:302857002|SNOMEDCT_US:60392001|UMLS:C0206731	Angiofibroma consist of many often dilated vessels.	http://purl.obolibrary.org/obo/HP_0010615		
OBO:HP_0010616	Lung fibroma	biolink:OntologyClass	hp	NCIT:C3041|SNOMEDCT_US:707387004|UMLS:C1334444	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.	http://purl.obolibrary.org/obo/HP_0010616		
OBO:HP_0010617	Cardiac fibroma	biolink:OntologyClass	hp	NCIT:C3041|UMLS:C1096654	A fibroma of the heart.	http://purl.obolibrary.org/obo/HP_0010617		
OBO:HP_0010618	Ovarian fibroma	biolink:OntologyClass	hp	MSH:C562391|NCIT:C3041|SNOMEDCT_US:254865006|UMLS:C0149951	The presence of a fibroma of the ovary.	http://purl.obolibrary.org/obo/HP_0010618		
OBO:HP_0010619	Fibroadenoma of the breast	biolink:OntologyClass	hp	NCIT:C3744|SNOMEDCT_US:254845004|UMLS:C0178421	A benign biphasic tumor of the breast with epithelial and stromal components.	http://purl.obolibrary.org/obo/HP_0010619		Breast fibroadenoma|Breast fibroadenomas|Breast fibroadenosis|Fibroadenosis - breast|Fibroadenosis of breast
OBO:HP_0010620	Malar prominence	biolink:OntologyClass	hp	UMLS:C1858732|UMLS:C4280374	Prominence of the malar process of the maxilla and infraorbital area appreciated in profile and from in front of the face.	http://purl.obolibrary.org/obo/HP_0010620	hposlim_core	Malar excess|Malar hyperplasia|Prominent malar region|Hyperplasia of malar bones
OBO:HP_0010621	Cutaneous syndactyly of toes	biolink:OntologyClass	hp	UMLS:C1834737	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.	http://purl.obolibrary.org/obo/HP_0010621	hposlim_core	Webbed skin of toes|Cutaneous syndactyly of feet|soft tissue syndactyly of toes
OBO:HP_0010622	Neoplasm of the skeletal system	biolink:OntologyClass	hp	NCIT:C3262|SNOMEDCT_US:442868003|UMLS:C2732838|UMLS:C4020771	A tumor (abnormal growth of tissue) of the skeleton.	http://purl.obolibrary.org/obo/HP_0010622		Skeletal tumor|Neoplasia of the skeletal system|Bone neoplasm
OBO:HP_0010624	Aplastic/hypoplastic toenail	biolink:OntologyClass	hp	UMLS:C1856749	Absence or underdevelopment of the toenail.	http://purl.obolibrary.org/obo/HP_0010624		Absent/small toenails|Absent/underdeveloped toenails|Aplastic/hypoplastic toenails|Hypoplastic-absent toenails
OBO:HP_0010625	Anterior pituitary dysgenesis	biolink:OntologyClass	hp	MSH:D010903|SNOMEDCT_US:62818001|UMLS:C0032008|UMLS:C4023771	Absence or underdevelopment of the anterior pituitary gland, also known as the adenohypophysis.	http://purl.obolibrary.org/obo/HP_0010625		Adenohypophysis
OBO:HP_0010626	Anterior pituitary agenesis	biolink:OntologyClass	hp	UMLS:C4021249	Absence of the anterior pituitary gland resulting from a developmental defect.	http://purl.obolibrary.org/obo/HP_0010626		Absent pituitary gland|Aplasia of the pituitary gland
OBO:HP_0010627	Anterior pituitary hypoplasia	biolink:OntologyClass	hp	UMLS:C0948740|UMLS:C1859775	Underdevelopment of the anterior pituitary gland.	http://purl.obolibrary.org/obo/HP_0010627		Underdeveloped pituitary gland|Hypoplasia of the pituitary gland
OBO:HP_0010628	Facial palsy	biolink:OntologyClass	hp	MSH:D005158|MSH:D020330|SNOMEDCT_US:193093009|SNOMEDCT_US:95666008|UMLS:C0376175|UMLS:C0427055|UMLS:C1858719	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.	http://purl.obolibrary.org/obo/HP_0010628	hposlim_core	Bell's palsy|Cranial nerve VII palsy|Facial nerve palsy|Facial nerve paralysis|Facial palsy, unilateral or bilateral|Seventh cranial nerve palsy|VII th cranial nerve palsy|Facial muscle weakness of muscles innervated by CN VII
OBO:HP_0010629	Abnormal morphology of the cortex of the humerus	biolink:OntologyClass	hp	UMLS:C4023770	Any abnormality affecting the cortex of the humerus.	http://purl.obolibrary.org/obo/HP_0010629		
OBO:HP_0010630	Abnormality of metatarsal epiphysis	biolink:OntologyClass	hp	UMLS:C4021248	Any abnormality of a metatarsal bone epiphysis.	http://purl.obolibrary.org/obo/HP_0010630		Abnormality of end part of long bone of foot|Abnormality of the epiphyses of the metatarsals
OBO:HP_0010631	Abnormality of the epiphyses of the feet	biolink:OntologyClass	hp	UMLS:C4023769	Any abnormality of the epiphyses of the feet.	http://purl.obolibrary.org/obo/HP_0010631		Abnormality of the end part of the foot bone
OBO:HP_0010632	Total anosmia	biolink:OntologyClass	hp	UMLS:C4023768	Inability to detect any qualitative olfactory sensation.	http://purl.obolibrary.org/obo/HP_0010632		
OBO:HP_0010633	Partial anosmia	biolink:OntologyClass	hp	UMLS:C4023767	Inability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants).	http://purl.obolibrary.org/obo/HP_0010633		
OBO:HP_0010634	Total hyposmia	biolink:OntologyClass	hp	UMLS:C4023766	Reduced ability to detect any qualitative olfactory sensation.	http://purl.obolibrary.org/obo/HP_0010634		
OBO:HP_0010635	Partial hyposmia	biolink:OntologyClass	hp	UMLS:C4023765	Reduced ability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants).	http://purl.obolibrary.org/obo/HP_0010635		
OBO:HP_0010636	Schizencephaly	biolink:OntologyClass	hp	MSH:D065707|SNOMEDCT_US:253159001|SNOMEDCT_US:38353004|UMLS:C0266484	The presence of a cleft in the cerebral cortex unilaterally or bilaterally, usually located in the frontal area.	http://purl.obolibrary.org/obo/HP_0010636		
OBO:HP_0010637	Conjunctival amyloidosis	biolink:OntologyClass	hp	SNOMEDCT_US:59017008|UMLS:C0268402	A form of amyloidosis that affects the conjunctiva.	http://purl.obolibrary.org/obo/HP_0010637		
OBO:HP_0010638	Elevated alkaline phosphatase of hepatic origin	biolink:OntologyClass	hp	UMLS:C4023764	An abnormally increased level of liver isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.	http://purl.obolibrary.org/obo/HP_0010638		Elevated ALP of hepatic origin
OBO:HP_0010639	Elevated alkaline phosphatase of bone origin	biolink:OntologyClass	hp	UMLS:C1833667	An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.	http://purl.obolibrary.org/obo/HP_0010639		Elevated ALP of bone origin|Elevated alkaline phosphatase of bone origin|Increased serum bone-specific alkaline phosphatase
OBO:HP_0010640	Abnormality of the nasal cavity	biolink:OntologyClass	hp	UMLS:C4023763	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).	http://purl.obolibrary.org/obo/HP_0010640		
OBO:HP_0010641	Abnormality of the midnasal cavity	biolink:OntologyClass	hp	UMLS:C4021861	Abnormality of the midnasal cavity which includes the cavity between the nares and the choanae.	http://purl.obolibrary.org/obo/HP_0010641		
OBO:HP_0010643	Midnasal atresia	biolink:OntologyClass	hp	UMLS:C4023762	Absence or abnormal closure of the midnasal cavity.	http://purl.obolibrary.org/obo/HP_0010643		
OBO:HP_0010644	Midnasal stenosis	biolink:OntologyClass	hp	UMLS:C1840238	Abnormal narrowing (stenosis) of the midnasal cavity, i.e., of the middle nasal meatus, which in neonates can cause respiratory distress.	http://purl.obolibrary.org/obo/HP_0010644		Midnasal atresia or stenosis
OBO:HP_0010645	Aplasia of the distal phalanges of the toes	biolink:OntologyClass	hp	UMLS:C4023761	Absence of the distal phalanges of the toes.	http://purl.obolibrary.org/obo/HP_0010645		Absent outermost bone of the toes
OBO:HP_0010646	Cervical spine instability	biolink:OntologyClass	hp	SNOMEDCT_US:202821008|UMLS:C0410652	An abnormal lack of stability of the cervical spine.	http://purl.obolibrary.org/obo/HP_0010646		
OBO:HP_0010647	Abnormal elasticity of skin	biolink:OntologyClass	hp	UMLS:C4023760	Any abnormal increase or reduction in skin elasticity.	http://purl.obolibrary.org/obo/HP_0010647		
OBO:HP_0010648	Dermal translucency	biolink:OntologyClass	hp	UMLS:C1836646	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.	http://purl.obolibrary.org/obo/HP_0010648	hposlim_core	Translucent skin
OBO:HP_0010649	Flat nasal alae	biolink:OntologyClass	hp	UMLS:C4023759	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).	http://purl.obolibrary.org/obo/HP_0010649		Depressed nasal alae|Flat nasal alar cartilage
OBO:HP_0010650	Hypoplasia of the premaxilla	biolink:OntologyClass	hp	UMLS:C4020770|UMLS:C4072878	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.	http://purl.obolibrary.org/obo/HP_0010650	hposlim_core	Hypoplasia of the primary palate bone|Premaxillary bone deficiency|Primary palate bone deficiency|Small premaxilla|Small primary palate bone|Underdevelopment of the premaxilla|Underdevelopment of the primary palate bone|Premaxillary retrusion|Primary palate bone retrusion|Decreased size of premaxilla|Decreased size of the primary palate bone|Hypoplasia of the intermaxillary bone|Premaxillary underdevelopment|Underdevelopment of premaxilla|Premaxillary bone retrusion
OBO:HP_0010651	Abnormal meningeal morphology	biolink:OntologyClass	hp	UMLS:C4023758	An abnormality of the Meninges, including any abnormality of the Dura mater, the Arachnoid mater, and the Pia mater.	http://purl.obolibrary.org/obo/HP_0010651		Abnormality of the meninges
OBO:HP_0010652	Abnormal dura mater morphology	biolink:OntologyClass	hp	UMLS:C4023757	An abnormality of the Dura mater.	http://purl.obolibrary.org/obo/HP_0010652		Abnormality of the dura mater
OBO:HP_0010653	Abnormality of the falx cerebri	biolink:OntologyClass	hp	UMLS:C4021247	An abnormality of the Falx cerebri.	http://purl.obolibrary.org/obo/HP_0010653		Abnormality of the cerebral falx
OBO:HP_0010654	Aplasia of the falx cerebri	biolink:OntologyClass	hp	UMLS:C4023756	A developmental defect characterized by aplasia of the Falx cerebri.	http://purl.obolibrary.org/obo/HP_0010654		Absent cerebral falx
OBO:HP_0010655	Epiphyseal stippling	biolink:OntologyClass	hp	SNOMEDCT_US:360507004|UMLS:C1859126	The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses.	http://purl.obolibrary.org/obo/HP_0010655		Speckled calcifications in end part of bone|Epiphyseal punctate calcifications|Stippled epiphyses|Stippling of the epiphyses
OBO:HP_0010656	Abnormal epiphyseal ossification	biolink:OntologyClass	hp	UMLS:C4021246	An abnormality of the formation and mineralization of an epiphysis.	http://purl.obolibrary.org/obo/HP_0010656		Abnormal maturation of the end part of a bone|Abnormality of the mineralisation or ossification of the epiphyses
OBO:HP_0010657	Patchy reduction of bone mineral density	biolink:OntologyClass	hp	UMLS:C4023755	Patchy (irregular) reduction in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays.	http://purl.obolibrary.org/obo/HP_0010657		
OBO:HP_0010658	Patchy changes of bone mineral density	biolink:OntologyClass	hp	UMLS:C4023754	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).	http://purl.obolibrary.org/obo/HP_0010658		
OBO:HP_0010659	Patchy variation in bone mineral density	biolink:OntologyClass	hp	UMLS:C4021245	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.	http://purl.obolibrary.org/obo/HP_0010659		Patchy increased and decreased bone mineral density
OBO:HP_0010660	Abnormal hand bone ossification	biolink:OntologyClass	hp	UMLS:C4021244	An abnormality of the formation and mineralization of any bone of the skeleton of hand.	http://purl.obolibrary.org/obo/HP_0010660		Abnormal maturation of the hand bones|Abnormal ossification of hand bones|Abnormality of the mineralisation and ossification of bones of the hand
OBO:HP_0010661	Absence of the third cerebral ventricle	biolink:OntologyClass	hp	UMLS:C4023753	A developmental defect characterized by the absence of the Third ventricle.	http://purl.obolibrary.org/obo/HP_0010661		
OBO:HP_0010662	Abnormality of the diencephalon	biolink:OntologyClass	hp	UMLS:C4023752	An abnormality of the Diencephalon, which together with the cerebrum (telencephalon) makes up the forebrain.	http://purl.obolibrary.org/obo/HP_0010662		
OBO:HP_0010663	Abnormality of thalamus morphology	biolink:OntologyClass	hp	UMLS:C4021243	An abnormality of the thalamus.	http://purl.obolibrary.org/obo/HP_0010663		Abnormal shape of thalamus|Abnormality of the thalamus
OBO:HP_0010664	Fusion of the left and right thalami	biolink:OntologyClass	hp	UMLS:C1834930|UMLS:C4020769	A developmental defect characterized by fusion of the left and right halves of the thalamus.	http://purl.obolibrary.org/obo/HP_0010664		Fused thalami|Undivided thalami|Fusion of thamali
OBO:HP_0010665	Bilateral coxa valga	biolink:OntologyClass	hp	UMLS:C3810018	The presence of bilateral coxa valga.	http://purl.obolibrary.org/obo/HP_0010665		
OBO:HP_0010666	Hypoplasia of the anterior nasal spine	biolink:OntologyClass	hp	UMLS:C4023751|UMLS:C4280372|UMLS:C4280373	Underdevelopment of the anterior nasal spine of maxilla.	http://purl.obolibrary.org/obo/HP_0010666		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
OBO:HP_0010667	Aplasia of the maxilla	biolink:OntologyClass	hp	UMLS:C4023750|UMLS:C4280371	A congenital defect characterized by absence of the Maxilla.	http://purl.obolibrary.org/obo/HP_0010667		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
OBO:HP_0010668	Abnormality of the zygomatic bone	biolink:OntologyClass	hp	UMLS:C4023749	An abnormality of the zygomatic bone.	http://purl.obolibrary.org/obo/HP_0010668		Abnormality of the cheekbone|Deformity of the cheekbone|Anomaly of the zygomatic bone|Deformity of the zygomatic bone|Malformation of the zygomatic bone
OBO:HP_0010669	Hypoplasia of the zygomatic bone	biolink:OntologyClass	hp	UMLS:C4021242|UMLS:C4072879|UMLS:C4280368|UMLS:C4280369|UMLS:C4280370	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.	http://purl.obolibrary.org/obo/HP_0010669		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
OBO:HP_0010672	Abnormality of the third metatarsal bone	biolink:OntologyClass	hp	UMLS:C4023748	An abnormality of the third metatarsal bone.	http://purl.obolibrary.org/obo/HP_0010672		Abnormality of the 3rd long bone of foot
OBO:HP_0010674	Abnormality of the curvature of the vertebral column	biolink:OntologyClass	hp	UMLS:C4023747	The presence of an abnormal curvature of the vertebral column.	http://purl.obolibrary.org/obo/HP_0010674		Abnormal curve of the backbone|Abnormal curve of the spine|Abnormal curving of the spine|Curvature of spine|Curved spine
OBO:HP_0010675	Abnormal foot bone ossification	biolink:OntologyClass	hp	UMLS:C4020768|UMLS:C4021241|UMLS:C4280367	An abnormality of the formation and mineralization of any bone of the skeleton of foot.	http://purl.obolibrary.org/obo/HP_0010675		Abnormality of the mineralisation and ossification of bones of the feet|Abnormal maturation of foot bones|Abnormal ossification involving bones of the feet
OBO:HP_0010676	Mechanical ileus	biolink:OntologyClass	hp	SNOMEDCT_US:46420000|UMLS:C0400843		http://purl.obolibrary.org/obo/HP_0010676		
OBO:HP_0010677	Enuresis nocturna	biolink:OntologyClass	hp	MSH:D053206|SNOMEDCT_US:8009008|UMLS:C0270327	Enuresis occurring during sleeping hours.	http://purl.obolibrary.org/obo/HP_0010677		Nocturnal enuresis
OBO:HP_0010678	Enuresis diurna	biolink:OntologyClass	hp	UMLS:C4023746	Enuresis occurring during waking hours of the day.	http://purl.obolibrary.org/obo/HP_0010678		
OBO:HP_0010679	Elevated tissue non-specific alkaline phosphatase	biolink:OntologyClass	hp	UMLS:C4021240	An abnormally increased level of alkaline phosphatase, tissue-nonspecific isozyme in the blood.	http://purl.obolibrary.org/obo/HP_0010679		Elevated tissue non-specific ALP|Elevated alkaline phosphatase, liver/bone/kidney
OBO:HP_0010680	Elevated alkaline phosphatase of renal origin	biolink:OntologyClass	hp	UMLS:C4023745	An abnormally increased level of kidney isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.	http://purl.obolibrary.org/obo/HP_0010680		Elevated ALP of renal origin
OBO:HP_0010681	Elevated intestinal alkaline phosphatase	biolink:OntologyClass	hp	UMLS:C4023744	An abnormally increased level of alkaline phosphatase, intestinal type in the blood.	http://purl.obolibrary.org/obo/HP_0010681		Elevated intestinal ALP
OBO:HP_0010682	Elevated placental alkaline phosphatase	biolink:OntologyClass	hp	UMLS:C4023743	An abnormally increased level of alkaline phosphatase, placental type in the blood.	http://purl.obolibrary.org/obo/HP_0010682		Elevated placental ALP
OBO:HP_0010683	Low tissue non-specific alkaline phosphatase	biolink:OntologyClass	hp	UMLS:C4023742	An abnormally reduced level of alkaline phosphatase, tissue-nonspecific isozyme in the blood.	http://purl.obolibrary.org/obo/HP_0010683		Low tissue non-specific ALP
OBO:HP_0010684	Low alkaline phosphatase of bone origin	biolink:OntologyClass	hp	UMLS:C4023741	An abnormally reduced level of bone isoforms of alkaline phosphatase in the blood.	http://purl.obolibrary.org/obo/HP_0010684		Low ALP of bone origin
OBO:HP_0010685	Low alkaline phosphatase of renal origin	biolink:OntologyClass	hp	UMLS:C4023740	An abnormally reduced level of kidney isoforms of alkaline phosphatase in the blood.	http://purl.obolibrary.org/obo/HP_0010685		Low ALP of renal origin
OBO:HP_0010686	Low alkaline phosphatase of hepatic origin	biolink:OntologyClass	hp	UMLS:C4023739	An abnormally reduced level of liver isoforms of alkaline phosphatase in the blood.	http://purl.obolibrary.org/obo/HP_0010686		Low ALP of hepatic origin
OBO:HP_0010687	Low intestinal alkaline phosphatase	biolink:OntologyClass	hp	UMLS:C4023738	An abnormally reduced level of alkaline phosphatase, intestinal type in the blood.	http://purl.obolibrary.org/obo/HP_0010687		Low intestinal ALP
OBO:HP_0010688	Low placental alkaline phosphatase	biolink:OntologyClass	hp	UMLS:C4023737	An abnormally reduced level of alkaline phosphatase, placental type in the blood.	http://purl.obolibrary.org/obo/HP_0010688		Low placental ALP
OBO:HP_0010689	Mirror image polydactyly	biolink:OntologyClass	hp	MSH:C535689|SNOMEDCT_US:715440003|UMLS:C1851100	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.	http://purl.obolibrary.org/obo/HP_0010689		Mirror image duplication of digits
OBO:HP_0010690	Mirror image hand polydactyly	biolink:OntologyClass	hp	UMLS:C4021239	Mirror image duplication of digits affecting the hands only.	http://purl.obolibrary.org/obo/HP_0010690	hposlim_core	Mirror image dupliction of fingers
OBO:HP_0010691	Mirror image foot polydactyly	biolink:OntologyClass	hp	UMLS:C4021238	Mirror image duplication of digits affecting the feet.	http://purl.obolibrary.org/obo/HP_0010691		Mirror image dupliction of toes
OBO:HP_0010692	2-5 finger syndactyly	biolink:OntologyClass	hp	UMLS:C4023736	Syndactyly with fusion of fingers two to five.	http://purl.obolibrary.org/obo/HP_0010692		Webbed 2nd-5th fingers|Webbed index, middle and little finger|Webbed index, middle and pinkie finger|Webbed index, middle and pinky finger
OBO:HP_0010693	Pulverulent cataract	biolink:OntologyClass	hp	MSH:C563426|UMLS:C1833118	A kind of congenital cataract that is characterized by a hollow sphere of punctate opacities involving the fetal nucleus and that usually occurs bilaterally.	http://purl.obolibrary.org/obo/HP_0010693		Pulverulent cataract
OBO:HP_0010694	Lamellar pulverulent cataract	biolink:OntologyClass	hp	UMLS:C4023735	A Lamellar cataract with a pulverulent (punctate, "dust-like" opacities) appearance.	http://purl.obolibrary.org/obo/HP_0010694		
OBO:HP_0010695	Sutural cataract	biolink:OntologyClass	hp	UMLS:C4023734	A type of congenital cataract in which the opacity follows the anterior or posterior Y suture.	http://purl.obolibrary.org/obo/HP_0010695		
OBO:HP_0010696	Polar cataract	biolink:OntologyClass	hp	UMLS:C2025392	A type of Congenital cataract in which the opacities occupy the subcapsular cortex at the anterior or posterior pole of the lens.	http://purl.obolibrary.org/obo/HP_0010696		
OBO:HP_0010697	Anterior pyramidal cataract	biolink:OntologyClass	hp	UMLS:C1392099	A type of anterior polar cataract which projects as a conical opacity into the anterior chamber.	http://purl.obolibrary.org/obo/HP_0010697		Pyramidal cataract
OBO:HP_0010698	Nuclear pulverulent cataract	biolink:OntologyClass	hp	UMLS:C4021237	A type of nuclear cataract involving congenital dust-like (pulverulent) opacity of the embryonal and fetal nucleus.	http://purl.obolibrary.org/obo/HP_0010698		Central pulverulent cataract|Coppock-like cataract|Pulverulent nuclear cataract|cataracta pulverulenta centralis
OBO:HP_0010699	Triangular nuclear cataract	biolink:OntologyClass	hp	UMLS:C4023733	A nuclear cataract with a triangular form.	http://purl.obolibrary.org/obo/HP_0010699		
OBO:HP_0010700	obsolete Total cataract	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0010700		
OBO:HP_0010701	Abnormal immunoglobulin level	biolink:OntologyClass	hp	UMLS:C1855755	An abnormal deviation from normal levels of immunoglobulins in blood.	http://purl.obolibrary.org/obo/HP_0010701		Abnormal immunoglobulin concentration|Abnormal serum immunoglobulin concentration|Abnormal serum immunoglobulin levels|Abnormal serum level of immunoglobulin|Immunoglobulin abnormality
OBO:HP_0010702	Increased circulating antibody level	biolink:OntologyClass	hp	MSH:D006942|SNOMEDCT_US:127388009|SNOMEDCT_US:129646001|UMLS:C0020455|UMLS:C0151669|UMLS:C0541985|UMLS:C1306857|UMLS:C2048011	An increased level of gamma globulin (immunoglobulin) in the blood.	http://purl.obolibrary.org/obo/HP_0010702		Elevated immunoglobulin levels|Hypergammaglobulinaemia|Hypergammaglobulinemia|Hyperglobulinemia|Increased antibody level in blood|Increased gamma globulin|Increased immunoglobulin level|Increased serum gamma globulin|Raised immunoglobulin levels
OBO:HP_0010704	1-2 finger syndactyly	biolink:OntologyClass	hp	UMLS:C4023732	Syndactyly with fusion of fingers one and two.	http://purl.obolibrary.org/obo/HP_0010704		Webbed 1st-2nd finger|Webbed thumb and index finger
OBO:HP_0010705	4-5 finger syndactyly	biolink:OntologyClass	hp	UMLS:C4023731	Syndactyly with fusion of fingers four and five.	http://purl.obolibrary.org/obo/HP_0010705		Webbed 4th-5th finger
OBO:HP_0010706	1-3 finger syndactyly	biolink:OntologyClass	hp	UMLS:C4023730	Syndactyly with fusion of fingers one to three.	http://purl.obolibrary.org/obo/HP_0010706		Webbed 1st-3rd finger
OBO:HP_0010707	1-4 finger syndactyly	biolink:OntologyClass	hp	UMLS:C4023729	Syndactyly with fusion of fingers one to four.	http://purl.obolibrary.org/obo/HP_0010707		Webbed 1st-4th finger
OBO:HP_0010708	1-5 finger syndactyly	biolink:OntologyClass	hp	UMLS:C4023728	Syndactyly with fusion of fingers one to five (complete syndactyly of all fingers of the hand).	http://purl.obolibrary.org/obo/HP_0010708		Webbed 1st-5th fingers|Webbed 1-5 fingers
OBO:HP_0010709	2-4 finger syndactyly	biolink:OntologyClass	hp	UMLS:C4021236	Syndactyly with fusion of the fingers two to four.	http://purl.obolibrary.org/obo/HP_0010709		Webbed index through ring fingers|Syndactyly of second to fourth fingers
OBO:HP_0010710	3-5 finger syndactyly	biolink:OntologyClass	hp	UMLS:C4023727	Syndactyly with fusion of fingers three to five.	http://purl.obolibrary.org/obo/HP_0010710		Webbed third, fourth and fifth toes
OBO:HP_0010711	1-2 toe syndactyly	biolink:OntologyClass	hp	UMLS:C4023726	Syndactyly with fusion of toes one and two.	http://purl.obolibrary.org/obo/HP_0010711		Webbed first and second toes|Webbed 1st-2nd toes
OBO:HP_0010712	1-4 toe syndactyly	biolink:OntologyClass	hp	UMLS:C4023725	Syndactyly with fusion of toes one to four.	http://purl.obolibrary.org/obo/HP_0010712		Webbed first through fourth toes
OBO:HP_0010713	1-5 toe syndactyly	biolink:OntologyClass	hp	UMLS:C4021235	Syndactyly with fusion of toes one to five (complete syndactyly of all toes of the foot).	http://purl.obolibrary.org/obo/HP_0010713		Webbed 1st-5th toes|Syndactyly of all toes
OBO:HP_0010714	2-4 toe syndactyly	biolink:OntologyClass	hp	UMLS:C4021234	Syndactyly with fusion of toes two to four.	http://purl.obolibrary.org/obo/HP_0010714		Webbed 2nd-4th toes|Syndactyly of toes 2, 3 and 4|Syndactyly toes 2-4
OBO:HP_0010715	2-5 toe syndactyly	biolink:OntologyClass	hp	UMLS:C4023724	Syndactyly with fusion of toes two to five.	http://purl.obolibrary.org/obo/HP_0010715		Webbed 2nd-5th toes
OBO:HP_0010716	3-5 toe syndactyly	biolink:OntologyClass	hp	UMLS:C4023723	Syndactyly with fusion of toes three to five.	http://purl.obolibrary.org/obo/HP_0010716		Webbed 3rd-5th toes
OBO:HP_0010717	Osseous syndactyly of toes	biolink:OntologyClass	hp	SNOMEDCT_US:32113001|SNOMEDCT_US:38859008|UMLS:C0158738	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".	http://purl.obolibrary.org/obo/HP_0010717	hposlim_core	Osseous syndactyly of the toes
OBO:HP_0010719	Abnormality of hair texture	biolink:OntologyClass	hp	UMLS:C4023722|UMLS:C4072880|UMLS:C4072881|UMLS:C4073290	An abnormality of the texture of the hair.	http://purl.obolibrary.org/obo/HP_0010719		Abnormality of hair texture|Abnormality of hair consistency|Abnormality of hair curl pattern|Abnormality of hair volume
OBO:HP_0010720	Abnormal hair pattern	biolink:OntologyClass	hp	UMLS:C4023721	An abnormality of the distribution of hair growth.	http://purl.obolibrary.org/obo/HP_0010720		Abnormal distribution of hair|Abnormal hair pattern
OBO:HP_0010721	Abnormal hair whorl	biolink:OntologyClass	hp	UMLS:C3280303	An abnormal hair whorl (that is, a patch of hair growing in the opposite direction of the rest of the hair).	http://purl.obolibrary.org/obo/HP_0010721		Abnormal hair whorl|Abnormal hair whorls|Abnormal whorl of hair
OBO:HP_0010722	Asymmetry of the ears	biolink:OntologyClass	hp	UMLS:C1168239	An asymmetriy, i.e., difference in size, shape or position between the left and right ear.	http://purl.obolibrary.org/obo/HP_0010722	hposlim_core	Asymmetric ears
OBO:HP_0010723	Cystic lesions of the pinnae	biolink:OntologyClass	hp	UMLS:C4023720		http://purl.obolibrary.org/obo/HP_0010723		
OBO:HP_0010724	Advanced pneumatization of the mastoid process	biolink:OntologyClass	hp	UMLS:C4021828	An abnormally advanced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms.	http://purl.obolibrary.org/obo/HP_0010724	hposlim_core	
OBO:HP_0010726	Prominent corneal nerve fibers	biolink:OntologyClass	hp	UMLS:C4021233	Abnormal prominence of the corneal nerve fibers.	http://purl.obolibrary.org/obo/HP_0010726		Prominent corneal nerve fibres|Visible corneal nerve fibers
OBO:HP_0010727	Spontaneous rupture of the globe	biolink:OntologyClass	hp	UMLS:C4023719	Rupture of the eyeball not due to trauma.	http://purl.obolibrary.org/obo/HP_0010727	hposlim_core	
OBO:HP_0010728	Aplasia of the retina	biolink:OntologyClass	hp	UMLS:C4023718	A developmental defect characterized by absence of the retina.	http://purl.obolibrary.org/obo/HP_0010728		Absent retina
OBO:HP_0010729	Cherry red spot of the macula	biolink:OntologyClass	hp	UMLS:C2216370	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.	http://purl.obolibrary.org/obo/HP_0010729		Macular cherry red spot
OBO:HP_0010730	Double eyebrow	biolink:OntologyClass	hp	SNOMEDCT_US:253209004|UMLS:C0431449	This may present as a partial or complete duplication of the eyebrows.	http://purl.obolibrary.org/obo/HP_0010730	hposlim_core	Double eyebrow|Duplication of eyebrow
OBO:HP_0010731	Extension of eyebrows towards upper eyelid	biolink:OntologyClass	hp	UMLS:C4023717	The eyebrows extend towards - or even all the way down to - the margin of the upper eyelid.	http://purl.obolibrary.org/obo/HP_0010731		Extension of eyebrows towards upper eyelid
OBO:HP_0010732	Nodular changes affecting the eyelids	biolink:OntologyClass	hp	UMLS:C4023716	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.	http://purl.obolibrary.org/obo/HP_0010732		Eyelid nodules
OBO:HP_0010733	Naevus flammeus of the eyelid	biolink:OntologyClass	hp	UMLS:C1854409	Naevus flammeus localised in the skin of the eyelid.	http://purl.obolibrary.org/obo/HP_0010733		Port-wine stain on eyelid
OBO:HP_0010734	Fibrous dysplasia of the bones	biolink:OntologyClass	hp	MSH:D005357|SNOMEDCT_US:10623005|UMLS:C0016063	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).	http://purl.obolibrary.org/obo/HP_0010734		
OBO:HP_0010735	Polyostotic fibrous dysplasia	biolink:OntologyClass	hp	MSH:D005359|SNOMEDCT_US:36517007|UMLS:C0016065	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.	http://purl.obolibrary.org/obo/HP_0010735		
OBO:HP_0010736	Monostotic fibrous dysplasia	biolink:OntologyClass	hp	MSH:D005358|SNOMEDCT_US:89859004|UMLS:C0016064	Fibrous dysplasia of the bones were lesions are localized in only one bone.	http://purl.obolibrary.org/obo/HP_0010736		
OBO:HP_0010739	Osteopoikilosis	biolink:OntologyClass	hp	MSH:D010023|SNOMEDCT_US:9147009|UMLS:C0029455	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.	http://purl.obolibrary.org/obo/HP_0010739		
OBO:HP_0010740	Osteopathia striata	biolink:OntologyClass	hp	SNOMEDCT_US:82663009|UMLS:C0265513	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.	http://purl.obolibrary.org/obo/HP_0010740		
OBO:HP_0010741	Pedal edema	biolink:OntologyClass	hp	SNOMEDCT_US:102572006|UMLS:C0235886|UMLS:C0239340	An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg.	http://purl.obolibrary.org/obo/HP_0010741		Fluid accumulation in lower limbs|Lower leg swelling|Pedal oedema|Dependant oedema|Edema of the lower limbs|Leg edema|Peripheral edema of lower extremity|Dependant edema
OBO:HP_0010742	Edema of the upper limbs	biolink:OntologyClass	hp	SNOMEDCT_US:102558002|UMLS:C0522035	An abnormal accumulation of fluid beneath the skin of the arms.	http://purl.obolibrary.org/obo/HP_0010742		Fluid accumulation in upper limbs|Oedema of the upper limbs
OBO:HP_0010743	Short metatarsal	biolink:OntologyClass	hp	UMLS:C1849020	Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.	http://purl.obolibrary.org/obo/HP_0010743	hposlim_core	Short long bone of foot|Hypoplasia of the metatarsal bones|Hypoplastic metatarsals|Short metatarsal bone|Short metatarsals|Shortened metatarsals|Short metatarsal bones
OBO:HP_0010744	Absent metatarsal bone	biolink:OntologyClass	hp	UMLS:C4021232	A developmental abnormality characterized by the absence (aplasia) of a metatarsal bone.	http://purl.obolibrary.org/obo/HP_0010744		Absent long bone of foot|Aplasia of the metatarsal bones
OBO:HP_0010745	Aplasia of the phalanges of the toes	biolink:OntologyClass	hp	UMLS:C4021231	Absence of a digit or of one or more phalanges of a toe.	http://purl.obolibrary.org/obo/HP_0010745		Absent bones of the toes|Aphalangia of the toes
OBO:HP_0010746	Hypoplasia of the phalanges of the toes	biolink:OntologyClass	hp	UMLS:C4023715		http://purl.obolibrary.org/obo/HP_0010746		Small toe bones
OBO:HP_0010747	Medial flaring of the eyebrow	biolink:OntologyClass	hp	UMLS:C1844562	An abnormal distribution of eyebrow hair growth in the medial direction.	http://purl.obolibrary.org/obo/HP_0010747	hposlim_core	
OBO:HP_0010748	Ectopic lacrimal punctum	biolink:OntologyClass	hp	UMLS:C4021230	Positioning of a lacrimal punctum other than at the medial margins of the eyelid.	http://purl.obolibrary.org/obo/HP_0010748	hposlim_core	Abnormal position of the lacrimal punctum
OBO:HP_0010749	Blepharochalasis	biolink:OntologyClass	hp	SNOMEDCT_US:47704002|UMLS:C0005742	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.	http://purl.obolibrary.org/obo/HP_0010749	hposlim_core	Saggy upper eyelid skin
OBO:HP_0010750	Dermatochalasis	biolink:OntologyClass	hp	SNOMEDCT_US:246815009|UMLS:C0423124|UMLS:C2674149	Loss of elasticity of the upper and lower eyelids causing the skin to sag and bulge.	http://purl.obolibrary.org/obo/HP_0010750		Baggy eyes|Droopy eyelid skin|Extra eyelid skin|Redundant eyelid skin|Hooding of eyelids|Eyelid dermatochalasia
OBO:HP_0010751	Dimple chin	biolink:OntologyClass	hp	UMLS:C1849227	A persistent midline depression of the skin over the fat pad of the chin.	http://purl.obolibrary.org/obo/HP_0010751	hposlim_core	Chin butt|Chin dent|Chin dimple|Chin skin dimple|Dimple chin|Indentation of chin|Chin dimples|Gelasin of chin
OBO:HP_0010752	Cleft mandible	biolink:OntologyClass	hp	SNOMEDCT_US:92822004|UMLS:C0685786	Midline deficiency of the mandible and some or all overlying tissues.	http://purl.obolibrary.org/obo/HP_0010752	hposlim_core	Cleft lower jaw|Mandibular cleft
OBO:HP_0010753	Midline defect of mandible	biolink:OntologyClass	hp	UMLS:C4023714		http://purl.obolibrary.org/obo/HP_0010753		Midline cleft of mandible
OBO:HP_0010754	Abnormality of the temporomandibular joint	biolink:OntologyClass	hp	SNOMEDCT_US:248401009|SNOMEDCT_US:75630004|UMLS:C0266941|UMLS:C0424721|UMLS:C1865318|UMLS:C4280366	An anomaly of the temporomandibular joint.	http://purl.obolibrary.org/obo/HP_0010754		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
OBO:HP_0010755	Asymmetry of the maxilla	biolink:OntologyClass	hp	SNOMEDCT_US:235083001|UMLS:C0399519	Asymmetry between the left and right sides of the maxilla.	http://purl.obolibrary.org/obo/HP_0010755	hposlim_core	Asymmetry of the upper jaw|Asymmetry of upper jaw|Crooked upper jaw|Canted upper jaw|Tilted upper jaw|Uneven upper jaw|Deviation of the upper jaw|Asymmetry of right and left side of the maxilla|Canted maxilla|Crooked maxilla|Tilted maxilla|Unequal sides of maxilla|Uneven maxilla|Deviation of the maxilla
OBO:HP_0010756	Aplasia/Hypoplasia of the premaxilla	biolink:OntologyClass	hp	UMLS:C4023713	Absence or underdevelopment of the premaxilla.	http://purl.obolibrary.org/obo/HP_0010756		Aplasia/hypoplasia of the intermaxillary bone|Aplasia/hypoplasia of the primary palate bone
OBO:HP_0010757	Aplasia of the premaxilla	biolink:OntologyClass	hp	UMLS:C4023712	Absence of the premaxilla, which is the embryonic structure that forms the anterior part of the maxilla.	http://purl.obolibrary.org/obo/HP_0010757		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
OBO:HP_0010758	Abnormality of the premaxilla	biolink:OntologyClass	hp	UMLS:C4023711	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.	http://purl.obolibrary.org/obo/HP_0010758		Abnormality of the intermaxillary bone|Abnormality of the premaxillary bone|Abnormality of the primary palate bone|Abnormality of the intermaxillary segment of the maxilla
OBO:HP_0010759	Prominence of the premaxilla	biolink:OntologyClass	hp	UMLS:C2749369	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.	http://purl.obolibrary.org/obo/HP_0010759	hposlim_core	Anterior position of the premaxilla|Anterior position of the primary palate bone|Prominence of the primary palate bone|Premaxillary bone excess|Prominence of the intermaxillary bone
OBO:HP_0010760	Absent toe	biolink:OntologyClass	hp	UMLS:C3553754	Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues.	http://purl.obolibrary.org/obo/HP_0010760	hposlim_core	Absent toe|Absent toes|Aplasia of toe|Aplasia of the toes
OBO:HP_0010761	Broad columella	biolink:OntologyClass	hp	UMLS:C1851059|UMLS:C4280365	Increased width of the columella.	http://purl.obolibrary.org/obo/HP_0010761	hposlim_core	Columella, broad|Columella, wide|Fullness of columella|Increased width of columella|Hyperplasia of columella
OBO:HP_0010762	Chordoma	biolink:OntologyClass	hp	MSH:D002817|NCIT:C2947|SNOMEDCT_US:50007008|UMLS:C0008487	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.	http://purl.obolibrary.org/obo/HP_0010762		
OBO:HP_0010763	Low insertion of columella	biolink:OntologyClass	hp	UMLS:C4021229|UMLS:C4280364	Insertion of the posterior columella below the nasal base.	http://purl.obolibrary.org/obo/HP_0010763	hposlim_core	Ala higher than columella|Columella, low insertion
OBO:HP_0010764	Short eyelashes	biolink:OntologyClass	hp	UMLS:C2748682	Decreased length of the eyelashes (subjective).	http://purl.obolibrary.org/obo/HP_0010764		Decreased length of eyelashes|Short eyelashes
OBO:HP_0010765	Palmar hyperkeratosis	biolink:OntologyClass	hp	UMLS:C4023710	Hyperkeratosis affecting the palm of the hand.	http://purl.obolibrary.org/obo/HP_0010765		
OBO:HP_0010766	Ectopic calcification	biolink:OntologyClass	hp	UMLS:C3806226	Deposition of calcium salts in a tissue or location in which calcification does not normally occur.	http://purl.obolibrary.org/obo/HP_0010766		
OBO:HP_0010767	Sacrococcygeal pilonidal abnormality	biolink:OntologyClass	hp	UMLS:C4023709	The presence of a cyst, fistula, or abscess in the sacrococcygeal region (gluteal crease) characteristically accompanied by hair and skin folds.	http://purl.obolibrary.org/obo/HP_0010767		
OBO:HP_0010769	Pilonidal sinus	biolink:OntologyClass	hp	MSH:D010864|SNOMEDCT_US:47639008|UMLS:C0031925	A sinus in the coccygeal region (the region of the intergluteal cleft). A pilonidal sinus often contains hair and skin debris.	http://purl.obolibrary.org/obo/HP_0010769	hposlim_core	Pilonidal cyst
OBO:HP_0010770	Pilonidal fistula	biolink:OntologyClass	hp	MSH:D010864|SNOMEDCT_US:47639008|UMLS:C0031925		http://purl.obolibrary.org/obo/HP_0010770		
OBO:HP_0010771	Pilonidal abscess	biolink:OntologyClass	hp	SNOMEDCT_US:85224001|UMLS:C3537055	A hair-containing cyst or sinus usually in the coccygeal region.	http://purl.obolibrary.org/obo/HP_0010771		Sacrococcygeal fistula
OBO:HP_0010772	Anomalous pulmonary venous return	biolink:OntologyClass	hp	MSH:D012587|SNOMEDCT_US:111323005|SNOMEDCT_US:39905002|UMLS:C0036400	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.	http://purl.obolibrary.org/obo/HP_0010772		
OBO:HP_0010773	Partial anomalous pulmonary venous return	biolink:OntologyClass	hp	Fyler:2030|SNOMEDCT_US:68237008|UMLS:C0158634	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.	http://purl.obolibrary.org/obo/HP_0010773		Partial anomalous pulmonary venous connection
OBO:HP_0010774	Cor triatriatum	biolink:OntologyClass	hp	Fyler:3031|ICD-10:Q24.2|UMLS:C4023708	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).	http://purl.obolibrary.org/obo/HP_0010774		Triatrial heart
OBO:HP_0010775	Vascular ring	biolink:OntologyClass	hp	Fyler:2760|SNOMEDCT_US:110409004|SNOMEDCT_US:66403007|UMLS:C0221214	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.	http://purl.obolibrary.org/obo/HP_0010775		Vascular ring of aorta
OBO:HP_0010776	Tracheobronchmegaly	biolink:OntologyClass	hp	UMLS:C4023707	Marked widening of the trachea and major bronchi that may be predispose to chronic respiratory tract infection.	http://purl.obolibrary.org/obo/HP_0010776		
OBO:HP_0010777	Bronchomegaly	biolink:OntologyClass	hp	UMLS:C4023706	Marked widening of the major bronchi that may be predispose to chronic respiratory tract infection.	http://purl.obolibrary.org/obo/HP_0010777		
OBO:HP_0010778	Tracheomegaly	biolink:OntologyClass	hp	UMLS:C4023705	Marked widening of the trachea.	http://purl.obolibrary.org/obo/HP_0010778		
OBO:HP_0010779	Large pelvis bone	biolink:OntologyClass	hp	UMLS:C4019074|UMLS:C4072882	The presence of an abnormally large pelvis.	http://purl.obolibrary.org/obo/HP_0010779	hposlim_core	Large pelvis|Large pelvis bone
OBO:HP_0010780	Hyperacusis	biolink:OntologyClass	hp	MSH:D012001|SNOMEDCT_US:194399009|SNOMEDCT_US:25289003|UMLS:C0034880	Over-sensitivity to certain frequency ranges of sound.	http://purl.obolibrary.org/obo/HP_0010780	hposlim_core	Loudness intolerance
OBO:HP_0010781	Skin dimple	biolink:OntologyClass	hp	SNOMEDCT_US:301854006|UMLS:C0578531	Skin dimples are cutaneous indentations that are the result of tethering of the skin to underlying structures (bone) causing an indentation.	http://purl.obolibrary.org/obo/HP_0010781		Skin dimples
OBO:HP_0010782	Shoulder dimple	biolink:OntologyClass	hp	UMLS:C4023704	A subtype of skin dimples occurring in the shoulder region.	http://purl.obolibrary.org/obo/HP_0010782		Bi-acromial dimples|Shoulder dimples|Acromial dimple
OBO:HP_0010783	Erythema	biolink:OntologyClass	hp	MSH:D004890|MSH:D005483|SNOMEDCT_US:20255002|SNOMEDCT_US:238810007|SNOMEDCT_US:247441003|SNOMEDCT_US:271811009|SNOMEDCT_US:444827008|SNOMEDCT_US:70819003|SNOMEDCT_US:86735004|UMLS:C0016382|UMLS:C0041834	Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.	http://purl.obolibrary.org/obo/HP_0010783	hposlim_core	Redness of skin or mucous membrane
OBO:HP_0010784	Uterine neoplasm	biolink:OntologyClass	hp	MSH:D014594|NCIT:C3262|SNOMEDCT_US:126908007|UMLS:C0042138	A tumor (abnormal growth of tissue) of the uterus.	http://purl.obolibrary.org/obo/HP_0010784		Uterine cancer|Uterine tumor|Uterine neoplasia
OBO:HP_0010785	Gonadal neoplasm	biolink:OntologyClass	hp	NCIT:C3262|UMLS:C4021228	A tumor (abnormal growth of tissue) of a gonad.	http://purl.obolibrary.org/obo/HP_0010785		Gonadal neoplasia
OBO:HP_0010786	Urinary tract neoplasm	biolink:OntologyClass	hp	MSH:D014571|NCIT:C3262|SNOMEDCT_US:126879004|SNOMEDCT_US:254913005|UMLS:C0042076	The presence of a neoplasm of the urinary system.	http://purl.obolibrary.org/obo/HP_0010786		Urinary tract neoplasia
OBO:HP_0010787	Genital neoplasm	biolink:OntologyClass	hp	NCIT:C3262|UMLS:C0679347|UMLS:C4020767	A tumor (abnormal growth of tissue) of the genital system.	http://purl.obolibrary.org/obo/HP_0010787		Genital tumor|Genital neoplasia
OBO:HP_0010788	Testicular neoplasm	biolink:OntologyClass	hp	MSH:D013736|NCIT:C3262|SNOMEDCT_US:126900000|UMLS:C0039590	The presence of a neoplasm of the testis.	http://purl.obolibrary.org/obo/HP_0010788		Testicular cancer|Testicular tumor|Testicular neoplasia
OBO:HP_0010789	Abnormality of the Leydig cells	biolink:OntologyClass	hp	UMLS:C4023703		http://purl.obolibrary.org/obo/HP_0010789		
OBO:HP_0010790	Hyoplasia of the Leydig cells	biolink:OntologyClass	hp	UMLS:C4023702	Underdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone.	http://purl.obolibrary.org/obo/HP_0010790		
OBO:HP_0010791	Hyperplasia of the Leydig cells	biolink:OntologyClass	hp	SNOMEDCT_US:76085008|UMLS:C0023600	Hypertrophy or overdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone.	http://purl.obolibrary.org/obo/HP_0010791		
OBO:HP_0010793	Bifid nail	biolink:OntologyClass	hp	SNOMEDCT_US:110992006|UMLS:C0544857	A digit with two nails, with at least some soft tissue between them.	http://purl.obolibrary.org/obo/HP_0010793	hposlim_core	Notched nail|duplicated nail
OBO:HP_0010794	Impaired visuospatial constructive cognition	biolink:OntologyClass	hp	UMLS:C4023701	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).	http://purl.obolibrary.org/obo/HP_0010794		
OBO:HP_0010795	Cerebellar glioma	biolink:OntologyClass	hp	UMLS:C4023700	A glioma affecting the cerebellum.	http://purl.obolibrary.org/obo/HP_0010795		
OBO:HP_0010796	Brainstem glioma	biolink:OntologyClass	hp	SNOMEDCT_US:444545003|UMLS:C0677865	A glioma affecting the brainstem.	http://purl.obolibrary.org/obo/HP_0010796		
OBO:HP_0010797	Hemangioblastoma	biolink:OntologyClass	hp	MSH:D018325|NCIT:C3801|SNOMEDCT_US:81201000|UMLS:C0206734	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.	http://purl.obolibrary.org/obo/HP_0010797		Haemangioblastoma
OBO:HP_0010798	Lip freckle	biolink:OntologyClass	hp	SNOMEDCT_US:239136007|UMLS:C0406814	Increased focal pigmentation of the vermilion of the lips.	http://purl.obolibrary.org/obo/HP_0010798	hposlim_core	Lip freckle|Ephelis of lip|Labial lentigo|Lip lentigo
OBO:HP_0010799	Pinealoma	biolink:OntologyClass	hp	MSH:D010871|NCIT:C3328|SNOMEDCT_US:127026004|SNOMEDCT_US:359619007|SNOMEDCT_US:47598005|UMLS:C0031941	A neoplasm of the pineal gland.	http://purl.obolibrary.org/obo/HP_0010799		
OBO:HP_0010800	Absent cupid's bow	biolink:OntologyClass	hp	UMLS:C2053435	Lack of paramedian peaks and median notch of the upper lip vermilion.	http://purl.obolibrary.org/obo/HP_0010800	hposlim_core	Absent cupid's bow|Lack of cupid's bow|Missing cupid's bow|Agenesis of cupid's bow|Failure of development of cupid's bow|Aplasia of cupid's bow
OBO:HP_0010801	Underdeveloped nasolabial fold	biolink:OntologyClass	hp	UMLS:C4021227	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).	http://purl.obolibrary.org/obo/HP_0010801	hposlim_core	Flat nasolabial fold|Nasolabial crease, hypoplastic|Nasolabial crease, underdeveloped|Nasolabial fold, hypoplastic|Shallow nasolabial fold
OBO:HP_0010802	Perioral hyperpigmentation	biolink:OntologyClass	hp	UMLS:C4023699	Increased pigmentation, either focal or generalized, of the skin surrounding the vermilion of the lips.	http://purl.obolibrary.org/obo/HP_0010802		Darkening of skin around the mouth|Increased pigmentation around the mouth
OBO:HP_0010803	Everted upper lip vermilion	biolink:OntologyClass	hp	UMLS:C3275452|UMLS:C4023698|UMLS:C4280363	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.	http://purl.obolibrary.org/obo/HP_0010803	hposlim_core	Outward turned upper lip|Drooping upper lip|Protruding upper lip|Eclabium of upper lip|Everted prominent upper lip|Everted upper lip
OBO:HP_0010804	Tented upper lip vermilion	biolink:OntologyClass	hp	UMLS:C1839767|UMLS:C1850072|UMLS:C1853383	Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base.	http://purl.obolibrary.org/obo/HP_0010804	hposlim_core	Tented mouth|Tented upper lip|Inverted V-shaped upper lip
OBO:HP_0010805	Upturned corners of mouth	biolink:OntologyClass	hp	UMLS:C3553471	Oral commissures positioned superior to the midline labial fissure.	http://purl.obolibrary.org/obo/HP_0010805	hposlim_core	Upturned corners of mouth|Upturned mouth|Upturned oral commisures
OBO:HP_0010806	U-Shaped upper lip vermilion	biolink:OntologyClass	hp	UMLS:C1856202	Gentle upward curve of the upper lip vermilion such that the center is placed well superior to the commissures.	http://purl.obolibrary.org/obo/HP_0010806		Carp-like mouth|Carp-shaped mouth|Fish mouth|Large, carp-shaped mouth|Wide, carp-shaped mouth
OBO:HP_0010807	Open bite	biolink:OntologyClass	hp	MSH:D024343|SNOMEDCT_US:35580009|UMLS:C0266061	Visible space between the dental arches in occlusion.	http://purl.obolibrary.org/obo/HP_0010807	hposlim_core	Absence of overlap of upper and lower teeth|Open bite|Open bite between upper and lower teeth
OBO:HP_0010808	Protruding tongue	biolink:OntologyClass	hp	SNOMEDCT_US:249872000|SNOMEDCT_US:285503005|UMLS:C0241442	Tongue extending beyond the alveolar ridges or teeth at rest.	http://purl.obolibrary.org/obo/HP_0010808	hposlim_core	Prominent tongue|Protruding tongue|Tongue sticking out of mouth|Lingual prolapse|Lingual prominence|Lingual protrusion|Prolapse of tongue|Tongue protrusion
OBO:HP_0010809	Broad uvula	biolink:OntologyClass	hp	UMLS:C3693299	Increased width of the uvula (subjective finding).	http://purl.obolibrary.org/obo/HP_0010809	hposlim_core	Wide uvula
OBO:HP_0010810	Long uvula	biolink:OntologyClass	hp	UMLS:C4023697|UMLS:C4280362	Increased length of the uvula.	http://purl.obolibrary.org/obo/HP_0010810	hposlim_core	Hyperplasia of uvula|Long palatine uvula|Elongated uvula
OBO:HP_0010811	Narrow uvula	biolink:OntologyClass	hp	UMLS:C4023696	Decreased width of the uvula.	http://purl.obolibrary.org/obo/HP_0010811	hposlim_core	Narrow palatine uvula|Thin uvula
OBO:HP_0010812	Short uvula	biolink:OntologyClass	hp	UMLS:C1401781	Decreased length of the uvula.	http://purl.obolibrary.org/obo/HP_0010812		Hypoplastic uvula|Short palatine uvula|Blunt uvula
OBO:HP_0010813	Abnormal number of hair whorls	biolink:OntologyClass	hp	UMLS:C4023695	More than two clockwise hair whorls.	http://purl.obolibrary.org/obo/HP_0010813	hposlim_core	Abnormal number of hair swirls|Abnormal number of hair whorls|Double crown (hair whorls)|Extra hair swirls|Extra hair whorl|Supernumary hair swirls|Supernumary hair whorl
OBO:HP_0010814	Abnormal position of hair whorl	biolink:OntologyClass	hp	UMLS:C4023694	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.	http://purl.obolibrary.org/obo/HP_0010814	hposlim_core	Abnormal location of hair swirl|Abnormal position of hair whorl
OBO:HP_0010815	Nevus sebaceous	biolink:OntologyClass	hp	MSH:D054000|SNOMEDCT_US:239112008|SNOMEDCT_US:52298009|SNOMEDCT_US:707136009|UMLS:C3854181	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.	http://purl.obolibrary.org/obo/HP_0010815		Naevus sebaceous|Organoid nevus|Sebaceous mole|Sebaceous naevus|Sebaceous nevus
OBO:HP_0010816	Epidermal nevus	biolink:OntologyClass	hp	MSH:C580062|SNOMEDCT_US:239107007|SNOMEDCT_US:25201003|UMLS:C0334082	Epidermal naevi are due to an overgrowth of the epidermis and may be present at birth (50%) or develop during childhood.	http://purl.obolibrary.org/obo/HP_0010816		Epidermal nevi
OBO:HP_0010817	Linear nevus sebaceous	biolink:OntologyClass	hp	MSH:D054000|SNOMEDCT_US:239112008|SNOMEDCT_US:52298009|SNOMEDCT_US:707136009|UMLS:C3854181	A type of nevus sebaceous with a linear form, raised borders and yellowish color.	http://purl.obolibrary.org/obo/HP_0010817		
OBO:HP_0010818	Generalized tonic seizure	biolink:OntologyClass	hp	UMLS:C1836508	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.	http://purl.obolibrary.org/obo/HP_0010818		Generalized tonic seizures|Generalised tonic seizure|Generalised tonic seizures|Generalised hypertonic seizure|Generalized hypertonic seizure|Hypertonic seizures
OBO:HP_0010819	Atonic seizure	biolink:OntologyClass	hp	SNOMEDCT_US:189198006|SNOMEDCT_US:42365007|UMLS:C0270846|UMLS:C1836509	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.	http://purl.obolibrary.org/obo/HP_0010819		Astatic seizures|Atonic seizures|Drop seizures|Sudden loss of muscle tone|Hypotonic seizures|Astatic seizure|Drop attacks|Hypotonic seizure
OBO:HP_0010820	Focal emotional seizure with crying	biolink:OntologyClass	hp	UMLS:C4023693	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.	http://purl.obolibrary.org/obo/HP_0010820		Dacrystic seizures|Dacrystic seizure
OBO:HP_0010821	Focal emotional seizure with laughing	biolink:OntologyClass	hp	MSH:D004828|SNOMEDCT_US:89525009|UMLS:C0270820	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'.	http://purl.obolibrary.org/obo/HP_0010821		Gelastic seizures|Gelastic seizure
OBO:HP_0010822	Scintillating scotoma	biolink:OntologyClass	hp	MSH:D012607|SNOMEDCT_US:2228002|UMLS:C0235068	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.	http://purl.obolibrary.org/obo/HP_0010822		
OBO:HP_0010823	Ridged cranial sutures	biolink:OntologyClass	hp	UMLS:C4023692	An overlap of the bony plates of the skull in an infant, with or without early closure.	http://purl.obolibrary.org/obo/HP_0010823	hposlim_core	Cranial suture ridges
OBO:HP_0010824	Abnormal fifth cranial nerve morphology	biolink:OntologyClass	hp	UMLS:C4021226	Any structural abormality of the fifth cranial nerve.	http://purl.obolibrary.org/obo/HP_0010824		Abnormal trigeminal nerve morphology|Abnormality of the fifth cranial nerve|Abnormality of the nervus trigeminus
OBO:HP_0010825	Abnormality of the eleventh cranial nerve	biolink:OntologyClass	hp	UMLS:C4021225	Abnormality of the eleventh cranial nerve.	http://purl.obolibrary.org/obo/HP_0010825		Abnormality of cranial nerve XI|Abnormality of the accessory nerve
OBO:HP_0010826	Abnormality of the twelfth cranial nerve	biolink:OntologyClass	hp	UMLS:C4021224	Abnormality of the twelfth cranial nerve.	http://purl.obolibrary.org/obo/HP_0010826		Abnormality of cranial nerve 12|Abnormality of cranial nerve xii|Abnormality of the hypoglossal nerve
OBO:HP_0010827	Abnormality of the seventh cranial nerve	biolink:OntologyClass	hp	UMLS:C4021223	Abnormality of the seventh cranial nerve sometimes also referred to as the facial nerve.	http://purl.obolibrary.org/obo/HP_0010827		Abnormality of the facial nerve
OBO:HP_0010828	Hemifacial spasm	biolink:OntologyClass	hp	MSH:D019569|SNOMEDCT_US:13753008|UMLS:C0278152	Intermittent clonic or tonic contraction of muscles supplied by facial nerve. Muscles are relaxed in between contractions.	http://purl.obolibrary.org/obo/HP_0010828		Spasms on one side of the face|Hemifacial spasms
OBO:HP_0010829	Impaired temperature sensation	biolink:OntologyClass	hp	UMLS:C4021222	A reduced ability to discriminate between different temperatures.	http://purl.obolibrary.org/obo/HP_0010829		Abnormality of temperature sensation|Impaired temperature sensation|Loss of temperature sensation
OBO:HP_0010830	Impaired tactile sensation	biolink:OntologyClass	hp	UMLS:C4021221	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.	http://purl.obolibrary.org/obo/HP_0010830		Impaired touch sensation|Loss of tactile sensation
OBO:HP_0010831	Impaired proprioception	biolink:OntologyClass	hp	UMLS:C1856691	A loss or impairment of the sensation of the relative position of parts of the body and joint position.	http://purl.obolibrary.org/obo/HP_0010831		Abnormality of proprioception
OBO:HP_0010832	Abnormality of pain sensation	biolink:OntologyClass	hp	UMLS:C4023691	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.	http://purl.obolibrary.org/obo/HP_0010832		
OBO:HP_0010833	Spontaneous pain sensation	biolink:OntologyClass	hp	UMLS:C4023690	Spontaneous pain is a kind of neuropathic pain which occurs without an identifiable trigger.	http://purl.obolibrary.org/obo/HP_0010833		
OBO:HP_0010834	Trophic changes related to pain	biolink:OntologyClass	hp	UMLS:C4021220	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.	http://purl.obolibrary.org/obo/HP_0010834		Trophic changes
OBO:HP_0010835	Dissociated sensory loss	biolink:OntologyClass	hp	SNOMEDCT_US:87275002|UMLS:C0278136	A pattern of sensory loss with selective loss of touch sensation and proprioception without loss of pain and temperature, or vice-versa.	http://purl.obolibrary.org/obo/HP_0010835		
OBO:HP_0010836	Abnormal circulating copper concentration	biolink:OntologyClass	hp	UMLS:C4020766|UMLS:C4023689	An abnormal concentration of copper.	http://purl.obolibrary.org/obo/HP_0010836		Abnormal copper levels
OBO:HP_0010837	Decreased circulating ceruloplasmin concentration	biolink:OntologyClass	hp	UMLS:C0240997	Decreased concentration of ceruloplasmin in the blood.	http://purl.obolibrary.org/obo/HP_0010837		Decreased serum ceruloplasmin|Hypoceruloplasminaemia|Decreased serum ceruloplasminA|Hypoceruloplasminemia
OBO:HP_0010838	High nonceruloplasmin-bound serum copper	biolink:OntologyClass	hp	UMLS:C1848459	An increased concentration of non ceruloplasmin bound copper in the blood.	http://purl.obolibrary.org/obo/HP_0010838		
OBO:HP_0010839	Increased urinary copper concentration	biolink:OntologyClass	hp	UMLS:C4023688	An increased concentration of copper in the urine.	http://purl.obolibrary.org/obo/HP_0010839		Increased urinary copper concentration
OBO:HP_0010841	Multifocal epileptiform discharges	biolink:OntologyClass	hp	UMLS:C4021219	An abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) and being identified at multiple locations (foci).	http://purl.obolibrary.org/obo/HP_0010841		Multifocal EEG abnormality
OBO:HP_0010843	EEG with focal slow activity	biolink:OntologyClass	hp	UMLS:C4021218	Focal (localized) slow activity reflects focal dysfunction, not diffuse dysfunction (i.e., encephalopathy).	http://purl.obolibrary.org/obo/HP_0010843		EEG: focal slow activity|EEG: localised slow activity|EEG: localized slow activity
OBO:HP_0010844	EEG with multifocal slow activity	biolink:OntologyClass	hp	UMLS:C4023687	Multifocal slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG).	http://purl.obolibrary.org/obo/HP_0010844		
OBO:HP_0010845	EEG with generalized slow activity	biolink:OntologyClass	hp	UMLS:C4021217	Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG).	http://purl.obolibrary.org/obo/HP_0010845		EEG with generalised slow activity|EEG: generalised slow activity|EEG: generalized slow activity
OBO:HP_0010846	EEG with persistent abnormal rhythmic activity	biolink:OntologyClass	hp	UMLS:C4021216		http://purl.obolibrary.org/obo/HP_0010846		EEG: persistent abnormal rhythmic activity
OBO:HP_0010847	EEG with spike-wave complexes (<2.5 Hz)	biolink:OntologyClass	hp	UMLS:C4023686	The presence of complexes of slow spikes and slow waves (<2.5 Hz) in electroencephalography (EEG).	http://purl.obolibrary.org/obo/HP_0010847		
OBO:HP_0010848	EEG with spike-wave complexes (2.5-3.5 Hz)	biolink:OntologyClass	hp	UMLS:C4023685	The presence of complexes of spikes and waves (2.5-3.5 Hz) in electroencephalography (EEG).	http://purl.obolibrary.org/obo/HP_0010848		
OBO:HP_0010849	EEG with spike-wave complexes (>3.5 Hz)	biolink:OntologyClass	hp	UMLS:C4020765|UMLS:C4023684	The presence of complexes of spikes and waves (>3.5 Hz) in electroencephalography (EEG).	http://purl.obolibrary.org/obo/HP_0010849		EEG with 3-4-Hz spike waves
OBO:HP_0010850	EEG with spike-wave complexes	biolink:OntologyClass	hp	UMLS:C4023683	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).	http://purl.obolibrary.org/obo/HP_0010850		
OBO:HP_0010851	EEG with burst suppression	biolink:OntologyClass	hp	UMLS:C1969156	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.	http://purl.obolibrary.org/obo/HP_0010851		
OBO:HP_0010852	EEG with photoparoxysmal response	biolink:OntologyClass	hp	UMLS:C3552821	EEG abnormalities (epileptiform discharges) evoked by flashing lights or black and white striped patterns.	http://purl.obolibrary.org/obo/HP_0010852		Photoparoxysmal response on EEG
OBO:HP_0010853	EEG with periodic lateralized epileptiform discharges	biolink:OntologyClass	hp	UMLS:C4021215	Periodic lateralized epileptiform discharges (PLEDs)are periodic, lateralized, and epileptiform. PLEDs show a relatively constant interval between discharges (0.5 to 3 seconds).	http://purl.obolibrary.org/obo/HP_0010853		EEG: periodic lateralized epileptiform discharges
OBO:HP_0010854	EEG with generalized low amplitude activity	biolink:OntologyClass	hp	UMLS:C4021214	An abnormal generalized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG).	http://purl.obolibrary.org/obo/HP_0010854		EEG with generalised low amplitude activity|EEG: generalised low amplitude activity
OBO:HP_0010855	EEG with localized low amplitude activity	biolink:OntologyClass	hp	UMLS:C4021213	An abnormal localized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG).	http://purl.obolibrary.org/obo/HP_0010855		EEG with localised low amplitude activity|EEG: localised low amplitude activity
OBO:HP_0010856	EEG with periodic complexes	biolink:OntologyClass	hp	UMLS:C4021212	Periodically occurring generalized periodic complexes.	http://purl.obolibrary.org/obo/HP_0010856		EEG: periodic complexes|Radermecker complexes
OBO:HP_0010857	EEG with periodic abnormalities	biolink:OntologyClass	hp	UMLS:C4021211	Periodically recurring abnormalities in the EEG.	http://purl.obolibrary.org/obo/HP_0010857		EEG: periodic abnormalities
OBO:HP_0010858	EEG with hyperventilation-induced epileptiform discharges	biolink:OntologyClass	hp	UMLS:C4023682	Epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).	http://purl.obolibrary.org/obo/HP_0010858		
OBO:HP_0010859	Frank breech presentation	biolink:OntologyClass	hp	MSH:D001946|SNOMEDCT_US:18559007|UMLS:C0233286	A kind of breech presentation in which the hips are flexed and the knees are extended.	http://purl.obolibrary.org/obo/HP_0010859		
OBO:HP_0010860	Complete breech presentation	biolink:OntologyClass	hp	MSH:D001946|SNOMEDCT_US:49168004|UMLS:C0233283	A kind of breech presentation in which the hips are flexed and the knees are flexed.	http://purl.obolibrary.org/obo/HP_0010860		
OBO:HP_0010861	Incomplete breech presentation	biolink:OntologyClass	hp	MSH:D001946|SNOMEDCT_US:38049006|UMLS:C0426146	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.	http://purl.obolibrary.org/obo/HP_0010861		
OBO:HP_0010862	Delayed fine motor development	biolink:OntologyClass	hp	UMLS:C4023681	A type of motor delay characterized by a delay in acquiring the ability to control the fingers and hands.	http://purl.obolibrary.org/obo/HP_0010862		
OBO:HP_0010863	Receptive language delay	biolink:OntologyClass	hp	SNOMEDCT_US:229736005|UMLS:C0454642	A delay in the acquisition of the ability to understand the speech of others.	http://purl.obolibrary.org/obo/HP_0010863		
OBO:HP_0010864	Intellectual disability, severe	biolink:OntologyClass	hp	SNOMEDCT_US:40700009|UMLS:C0036857	Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.	http://purl.obolibrary.org/obo/HP_0010864		Early and severe mental retardation|Intellectual disability, severe|Mental retardation, severe|Severe mental retardation
OBO:HP_0010865	Oppositional defiant disorder	biolink:OntologyClass	hp	MSH:D019958|SNOMEDCT_US:18941000|UMLS:C0029121	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.	http://purl.obolibrary.org/obo/HP_0010865		
OBO:HP_0010866	Abdominal wall defect	biolink:OntologyClass	hp	UMLS:C0238577	An incomplete closure of the abdominal wall.	http://purl.obolibrary.org/obo/HP_0010866		Abdominal wall defect|Congenital anterior abdominal wall defect
OBO:HP_0010867	Dyssynergia	biolink:OntologyClass	hp	MSH:D001259|SNOMEDCT_US:20262006|SNOMEDCT_US:39384006|UMLS:C0004134	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.	http://purl.obolibrary.org/obo/HP_0010867		
OBO:HP_0010868	Ocular dyssynergia	biolink:OntologyClass	hp	UMLS:C4023680	A type of dyssynergia affecting eye movements and characterized by the inability to smoothly follow a visual target across the visual field.	http://purl.obolibrary.org/obo/HP_0010868		
OBO:HP_0010869	Asynergia	biolink:OntologyClass	hp	SNOMEDCT_US:77743009|UMLS:C0234355	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.	http://purl.obolibrary.org/obo/HP_0010869		
OBO:HP_0010871	Sensory ataxia	biolink:OntologyClass	hp	MSH:D001259|SNOMEDCT_US:445458007|SNOMEDCT_US:69131009|UMLS:C0037921|UMLS:C0240991	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.	http://purl.obolibrary.org/obo/HP_0010871		Afferent ataxia|Ataxia, sensory|Spinal ataxia
OBO:HP_0010872	T-wave inversion	biolink:OntologyClass	hp	SNOMEDCT_US:59931005|UMLS:C0520888	An inversion of the T-wave (which is normally positive).	http://purl.obolibrary.org/obo/HP_0010872		EKG: T-wave inversion
OBO:HP_0010873	Cervical spinal cord atrophy	biolink:OntologyClass	hp	UMLS:C0742191	Atrophy of the cervical segment of the spinal cord.	http://purl.obolibrary.org/obo/HP_0010873		
OBO:HP_0010874	Tendon xanthomatosis	biolink:OntologyClass	hp	SNOMEDCT_US:69880002|UMLS:C0221253	The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows).	http://purl.obolibrary.org/obo/HP_0010874		Tendon xanthomas
OBO:HP_0010875	Chaddock reflex	biolink:OntologyClass	hp	SNOMEDCT_US:413813004|UMLS:C1531651	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.	http://purl.obolibrary.org/obo/HP_0010875		
OBO:HP_0010876	Abnormal circulating protein concentration	biolink:OntologyClass	hp	UMLS:C4020763|UMLS:C4020764|UMLS:C4023679	An abnormal level of a circulating protein in the blood.	http://purl.obolibrary.org/obo/HP_0010876		Blood protein disease|Abnormal circulating protein level|Abnormality of circulating protein level|Serum protein abnormality
OBO:HP_0010877	Monocular strabismus	biolink:OntologyClass	hp	UMLS:C4023678	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.	http://purl.obolibrary.org/obo/HP_0010877		Unilateral strabismus
OBO:HP_0010878	Fetal cystic hygroma	biolink:OntologyClass	hp	MSH:C537852|UMLS:C0948242	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.	http://purl.obolibrary.org/obo/HP_0010878		Foetal cystic hygroma
OBO:HP_0010879	Postnatal cystic hygroma	biolink:OntologyClass	hp	UMLS:C4023677		http://purl.obolibrary.org/obo/HP_0010879		
OBO:HP_0010880	Increased nuchal translucency	biolink:OntologyClass	hp	UMLS:C4023676	The presence of an abnormally large hypoechoic space in the posterior fetal neck (usually detected on prenatal ultrasound examination).	http://purl.obolibrary.org/obo/HP_0010880		
OBO:HP_0010881	Abnormality of the umbilical cord	biolink:OntologyClass	hp	SNOMEDCT_US:90009001|UMLS:C0266785	An abnormality of the umbilical cord, which is the cord connecting the developing embryo or fetus to the placenta.	http://purl.obolibrary.org/obo/HP_0010881		Umbilical cord issue
OBO:HP_0010882	Pulmonary valve atresia	biolink:OntologyClass	hp	Fyler:1001|MSH:D018633|SNOMEDCT_US:204342004|SNOMEDCT_US:448564004|UMLS:C0242855	A congenital disorder of the pulmonary valve in which the orifice of the valve fails to develop.	http://purl.obolibrary.org/obo/HP_0010882		
OBO:HP_0010883	Aortic valve atresia	biolink:OntologyClass	hp	SNOMEDCT_US:51442005|UMLS:C0265843	A congenital disorder of the aortic valve in which the orifice of the valve fails to develop.	http://purl.obolibrary.org/obo/HP_0010883		Aortic atresia
OBO:HP_0010884	Acromelia	biolink:OntologyClass	hp	UMLS:C4023675	Shortening of the extremities affecting primarily the distal parts of the limbs (hands and feet) in relation to the other segments of the limbs.	http://purl.obolibrary.org/obo/HP_0010884	hposlim_core	
OBO:HP_0010885	Avascular necrosis	biolink:OntologyClass	hp	MSH:D010020|SNOMEDCT_US:240196003|SNOMEDCT_US:398199007|SNOMEDCT_US:72756009|UMLS:C0029445|UMLS:C0085660|UMLS:C0520474|UMLS:C0877326	A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply.	http://purl.obolibrary.org/obo/HP_0010885		Death of bone due to decreased blood supply|Aseptic bone necrosis|Aseptic necrosis|Bone infarction|Ischemic bone necrosis|Osteochondronecrosis|Osteonecrosis
OBO:HP_0010886	Osteochondritis Dissecans	biolink:OntologyClass	hp	MSH:D010008|SNOMEDCT_US:82562007|UMLS:C0029421	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.	http://purl.obolibrary.org/obo/HP_0010886		Osteochondrosis dissecans
OBO:HP_0010888	Morbus Koehler	biolink:OntologyClass	hp	UMLS:C4023674	Morbus Koehler is a Juvenile aseptic necrosis affecting the Os naviculare pedis.	http://purl.obolibrary.org/obo/HP_0010888		
OBO:HP_0010889	Morbus Kienboeck	biolink:OntologyClass	hp	MSH:D010020|SNOMEDCT_US:360466009|SNOMEDCT_US:367356000|SNOMEDCT_US:84062004|UMLS:C0022682	Morbus Kienboeck is a Juvenile aseptic necrosis affecting the Os lunatum.	http://purl.obolibrary.org/obo/HP_0010889		Kienboeck's disease|Kienböck's disease|Lunatomalacia
OBO:HP_0010890	Morbus Osgood-Schlatter	biolink:OntologyClass	hp	MSH:D055034|SNOMEDCT_US:72047008|SNOMEDCT_US:79353000|UMLS:C0029376	Morbus Osgood-Schlatter is a Juvenile aseptic necrosis affecting the Tuberositas tibiae.	http://purl.obolibrary.org/obo/HP_0010890		Osgood Schlatter disease
OBO:HP_0010891	Morbus Scheuermann	biolink:OntologyClass	hp	MSH:D012544|SNOMEDCT_US:53406005|UMLS:C0036310	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).	http://purl.obolibrary.org/obo/HP_0010891		Calve disease|Juvenile Osteochondrosis of the spine|Scheuermann disease|Scheuermann kyphosis|Sherman's Disease
OBO:HP_0010892	Abnormal circulating branched chain amino acid concentration	biolink:OntologyClass	hp	UMLS:C4023673	Any deviation from the normal concentration of a branched chain family amino acid in the blood circulation.	http://purl.obolibrary.org/obo/HP_0010892		
OBO:HP_0010893	Abnormal circulating phenylalanine concentration	biolink:OntologyClass	hp	UMLS:C4023672	Any deviation from the normal concentration of phenylalanine in the blood circulation.	http://purl.obolibrary.org/obo/HP_0010893		Abnormality of phenylalanine metabolism
OBO:HP_0010894	Abnormal circulating serine family amino acid concentration	biolink:OntologyClass	hp	UMLS:C4023671	Any deviation from the normal concentration of a serine family amino acid in the blood circulation.	http://purl.obolibrary.org/obo/HP_0010894		Abnormality of serine family amino acid metabolism
OBO:HP_0010895	Abnormal circulating glycine concentration	biolink:OntologyClass	hp	UMLS:C4023670	Any deviation from the normal concentration of glycine in the blood circulation.	http://purl.obolibrary.org/obo/HP_0010895		
OBO:HP_0010896	Hypersarcosinemia	biolink:OntologyClass	hp	MSH:C537236|SNOMEDCT_US:64852002|UMLS:C0268563	An elevated plasma concentration of sarcosine.	http://purl.obolibrary.org/obo/HP_0010896		High plasma sarcosine levels
OBO:HP_0010897	Hypersarcosinuria	biolink:OntologyClass	hp	UMLS:C4023669	An elevated urinary concentration of sarcosine.	http://purl.obolibrary.org/obo/HP_0010897		High urine sarcosine levels
OBO:HP_0010898	Abnormal circulating sarcosine concentration	biolink:OntologyClass	hp	UMLS:C4023668	An deviation from the normal concentration of sarcosine in the blood circulation.	http://purl.obolibrary.org/obo/HP_0010898		
OBO:HP_0010899	Abnormal circulating aspartate family amino acid concentration	biolink:OntologyClass	hp	UMLS:C4023667	Any deviation from the normal concentration of an aspartate family amino acid in the blood circulation.	http://purl.obolibrary.org/obo/HP_0010899		
OBO:HP_0010900	Abnormal circulating threonine concentration	biolink:OntologyClass	hp	UMLS:C4023666	Any deviation from the normal concentration of threonine in the blood circulation.	http://purl.obolibrary.org/obo/HP_0010900		Abnormality of threonine metabolism
OBO:HP_0010901	Abnormal circulating methionine concentration	biolink:OntologyClass	hp	UMLS:C4023665	Any deviation from the normal concentration of methionine in the blood circulation.	http://purl.obolibrary.org/obo/HP_0010901		Abnormality of methionine metabolism
OBO:HP_0010902	Abnormal circulating glutamine family amino acid concentration	biolink:OntologyClass	hp	UMLS:C4023664	Any deviation from the normal concentration of a glutamine family amino acid in the blood circulation.	http://purl.obolibrary.org/obo/HP_0010902		
OBO:HP_0010903	Abnormal circulating glutamine concentration	biolink:OntologyClass	hp	UMLS:C4023663	Any deviation from the normal concentration of glutamine in the blood circulation.	http://purl.obolibrary.org/obo/HP_0010903		
OBO:HP_0010904	Abnormal circulating histidine concentration	biolink:OntologyClass	hp	UMLS:C4023662	An abnormality of a histidine metabolic process.	http://purl.obolibrary.org/obo/HP_0010904		Abnormality of histidine metabolism
OBO:HP_0010905	obsolete Abnormality of histidine metabolism	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0010905		
OBO:HP_0010906	Hyperhistidinemia	biolink:OntologyClass	hp	MSH:C538320|SNOMEDCT_US:124628005|SNOMEDCT_US:410058007|UMLS:C0220992	An increased concentration of histidine in the blood.	http://purl.obolibrary.org/obo/HP_0010906		High blood histidine level|Histidinemia
OBO:HP_0010907	Abnormal circulating proline concentration	biolink:OntologyClass	hp	UMLS:C4023661	Any deviation from the normal concentration of proline or a proline metabolite in the blood circulation.	http://purl.obolibrary.org/obo/HP_0010907		
OBO:HP_0010908	Abnormal circulating lysine concentration	biolink:OntologyClass	hp	UMLS:C4023660	Any deviation from the normal concentration of lysine in the blood circulation.	http://purl.obolibrary.org/obo/HP_0010908		Abnormality of lysine metabolism
OBO:HP_0010909	Abnormal circulating arginine concentration	biolink:OntologyClass	hp	UMLS:C4023659	Any deviation from the normal concentration of arginine in the blood circulation.	http://purl.obolibrary.org/obo/HP_0010909		Abnormality of arginine metabolism
OBO:HP_0010910	Hypervalinemia	biolink:OntologyClass	hp	MSH:C536524|SNOMEDCT_US:47719001|UMLS:C0268573	An increased concentration of valine in the blood.	http://purl.obolibrary.org/obo/HP_0010910		High blood valine concentration
OBO:HP_0010911	Hyperleucinemia	biolink:OntologyClass	hp	SNOMEDCT_US:24013007|UMLS:C0268576	An increased concentration of leucine in the blood.	http://purl.obolibrary.org/obo/HP_0010911		High blood leucine concentration
OBO:HP_0010912	Abnormal circulating isoleucine concentration	biolink:OntologyClass	hp	UMLS:C4023658	Any deviation from the normal concentration of isoleucine in the blood circulation.	http://purl.obolibrary.org/obo/HP_0010912		
OBO:HP_0010913	Hyperisoleucinemia	biolink:OntologyClass	hp	UMLS:C4023657	An increased concentration of isoleucine in the blood.	http://purl.obolibrary.org/obo/HP_0010913		High blood isoleucine concentration
OBO:HP_0010914	Abnormal circulating valine concentration	biolink:OntologyClass	hp	UMLS:C4023656	Any deviation from the normal circulation of valine in the blood circulation.	http://purl.obolibrary.org/obo/HP_0010914		Abnormality of valine metabolism
OBO:HP_0010915	Abnormal circulating pyruvate family amino acid concentration	biolink:OntologyClass	hp	UMLS:C4023655	An abnormality of a pyruvate family amino acid metabolic process.	http://purl.obolibrary.org/obo/HP_0010915		Abnormality of pyruvate family amino acid metabolism
OBO:HP_0010916	Abnormal circulating alanine concentration	biolink:OntologyClass	hp	UMLS:C4023654	An abnormality of an alanine metabolic process.	http://purl.obolibrary.org/obo/HP_0010916		Abnormality of alanine metabolism
OBO:HP_0010917	Abnormal circulating tyrosine concentration	biolink:OntologyClass	hp	UMLS:C4023653	Any deviation from the normal concentration of tyrosine in the blood circulation.	http://purl.obolibrary.org/obo/HP_0010917		
OBO:HP_0010918	Abnormal circulating cysteine concentration	biolink:OntologyClass	hp	UMLS:C4023652	An abnormality of a cysteine metabolic process.	http://purl.obolibrary.org/obo/HP_0010918		
OBO:HP_0010919	Abnormal circulating homocysteine concentration	biolink:OntologyClass	hp	UMLS:C4023651	An abnormality of a homocysteine metabolic process.	http://purl.obolibrary.org/obo/HP_0010919		
OBO:HP_0010920	Zonular cataract	biolink:OntologyClass	hp	MSH:C535342|UMLS:C1861821	Zonular cataracts are defined to be cataracts that affect specific regions of the lens.	http://purl.obolibrary.org/obo/HP_0010920		
OBO:HP_0010921	Coralliform cataract	biolink:OntologyClass	hp	UMLS:C1392104	A 'coral-like' pattern of opacity in the lens of the eye. That is, a cataract with an irregular, stellate form.	http://purl.obolibrary.org/obo/HP_0010921		
OBO:HP_0010922	Membranous cataract	biolink:OntologyClass	hp	MSH:D002386|UMLS:C0524524	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.	http://purl.obolibrary.org/obo/HP_0010922		
OBO:HP_0010923	Anterior subcapsular cataract	biolink:OntologyClass	hp	SNOMEDCT_US:315352000|UMLS:C1112768	A type of cataract affecting the anterior pole of lens immediately adjacent to ('beneath') the lens capsule.	http://purl.obolibrary.org/obo/HP_0010923		
OBO:HP_0010924	Posterior cortical cataract	biolink:OntologyClass	hp	UMLS:C4023650	A cataract that affects the posterior part of the cortex of the lens.	http://purl.obolibrary.org/obo/HP_0010924		
OBO:HP_0010925	Nuclear punctate cataract	biolink:OntologyClass	hp	UMLS:C4023649		http://purl.obolibrary.org/obo/HP_0010925		
OBO:HP_0010926	Aculeiform cataract	biolink:OntologyClass	hp	MSH:C566162|UMLS:C1861832	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.	http://purl.obolibrary.org/obo/HP_0010926		Fasciculiform cataract|Frosted cataract|Needle-shaped cataract
OBO:HP_0010927	Abnormal blood inorganic cation concentration	biolink:OntologyClass	hp	UMLS:C4023648	An abnormality of divalent inorganic cation homeostasis.	http://purl.obolibrary.org/obo/HP_0010927		Abnormality of divalent inorganic cation homeostasis
OBO:HP_0010928	obsolete Increased urinary orotic acid concentration	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0010928		
OBO:HP_0010929	Abnormal blood cation concentration	biolink:OntologyClass	hp	UMLS:C4023646	An abnormality of cation homeostasis.	http://purl.obolibrary.org/obo/HP_0010929		Abnormality of cation homeostasis
OBO:HP_0010930	Abnormal blood monovalent inorganic cation concentration	biolink:OntologyClass	hp	UMLS:C4023645	An abnormality of monovalent inorganic cation homeostasis.	http://purl.obolibrary.org/obo/HP_0010930		Abnormality of monovalent inorganic cation homeostasis
OBO:HP_0010931	Abnormal blood sodium concentration	biolink:OntologyClass	hp	UMLS:C4023644	An abnormal concentration of sodium.	http://purl.obolibrary.org/obo/HP_0010931		Abnormal blood Na+ levels|Abnormal circulating Na concentration|Abnormality of sodium homeostasis
OBO:HP_0010932	Abnormal circulating nucleobase concentration	biolink:OntologyClass	hp	UMLS:C4020762|UMLS:C4023643	An abnormality of a nucleobase metabolic process.	http://purl.obolibrary.org/obo/HP_0010932		Abnormal nucleoside levels
OBO:HP_0010933	Hyperxanthinemia	biolink:OntologyClass	hp	UMLS:C4023642	An increased level of xanthine in the blood circulation.	http://purl.obolibrary.org/obo/HP_0010933		
OBO:HP_0010934	Xanthinuria	biolink:OntologyClass	hp	SNOMEDCT_US:190919008|SNOMEDCT_US:54627004|UMLS:C0220988	An increased concentration of xanthine in the urine.	http://purl.obolibrary.org/obo/HP_0010934		Increased urinary xanthine
OBO:HP_0010935	Abnormality of the upper urinary tract	biolink:OntologyClass	hp	UMLS:C4023641	An abnormality of the upper urinary tract.	http://purl.obolibrary.org/obo/HP_0010935		Abnormality of the upper urinary tract
OBO:HP_0010936	Abnormality of the lower urinary tract	biolink:OntologyClass	hp	UMLS:C4023640	An abnormality of the lower urinary tract.	http://purl.obolibrary.org/obo/HP_0010936		
OBO:HP_0010937	Abnormality of the nasal skeleton	biolink:OntologyClass	hp	UMLS:C4023639|UMLS:C4280361	An abnormality of the nasal skeleton.	http://purl.obolibrary.org/obo/HP_0010937		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
OBO:HP_0010938	Abnormality of the external nose	biolink:OntologyClass	hp	UMLS:C2164724|UMLS:C4023638|UMLS:C4280360	An abnormality of the external nose.	http://purl.obolibrary.org/obo/HP_0010938		Abnormality of the external nose|Anomaly of the external nose|Deformity of the external nose|Malformation of the external nose
OBO:HP_0010939	Abnormality of the nasal bone	biolink:OntologyClass	hp	UMLS:C4023637	An abnormality of the nasal bone, comprising the left nasal bone and the right nasal bone.	http://purl.obolibrary.org/obo/HP_0010939		Abnormality of the nasal bone|Deformity of the nasal bones|Malformation of the nasal bones|Anomaly of the nasal bones
OBO:HP_0010940	Aplasia/Hypoplasia of the nasal bone	biolink:OntologyClass	hp	UMLS:C4023636	Absence or underdevelopment of the nasal bone.	http://purl.obolibrary.org/obo/HP_0010940		
OBO:HP_0010941	Aplasia of the nasal bone	biolink:OntologyClass	hp	MSH:C562753|SNOMEDCT_US:91900007|UMLS:C0339850|UMLS:C0339851|UMLS:C4023635	Absence of the nasal bone.	http://purl.obolibrary.org/obo/HP_0010941		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
OBO:HP_0010942	Echogenic intracardiac focus	biolink:OntologyClass	hp	UMLS:C4023634	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.	http://purl.obolibrary.org/obo/HP_0010942		
OBO:HP_0010943	Echogenic fetal bowel	biolink:OntologyClass	hp	MSH:D058535|UMLS:C2936423	Echogenic bowel is defined as fetal bowel with homogenous areas of echogenicity that are equal to or greater than that of surrounding bone.	http://purl.obolibrary.org/obo/HP_0010943		Echogenic foetal bowel|Echogenic bowel
OBO:HP_0010944	Abnormal renal pelvis morphology	biolink:OntologyClass	hp	UMLS:C4023633	An abnormality of the renal pelvis.	http://purl.obolibrary.org/obo/HP_0010944		Abnormality of the renal pelvis
OBO:HP_0010945	Fetal pyelectasis	biolink:OntologyClass	hp	MSH:D058536|SNOMEDCT_US:430035004|UMLS:C2317073	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.	http://purl.obolibrary.org/obo/HP_0010945		Foetal pyelectasis|Fetal renal pelvic dilatation|Mild fetal hydronephrosis
OBO:HP_0010946	Dilatation of the renal pelvis	biolink:OntologyClass	hp	UMLS:C1868864	The presence of dilatation of the renal pelvis.	http://purl.obolibrary.org/obo/HP_0010946		
OBO:HP_0010947	Abnormality of ductus venosus blood flow	biolink:OntologyClass	hp	UMLS:C4023632	A first-trimester prenatal ultrasound finding of abnormal blood flow in the ductus venosus.	http://purl.obolibrary.org/obo/HP_0010947		
OBO:HP_0010948	Abnormality of the fetal cardiovascular system	biolink:OntologyClass	hp	UMLS:C4021210	An abnormality of the fetal circulation system or fetal echocardiogram.	http://purl.obolibrary.org/obo/HP_0010948		Abnormality of the foetal cardiovascular system|Abnormality of the fetal circulation system
OBO:HP_0010949	Abnormality of umbilical vein blood flow	biolink:OntologyClass	hp	UMLS:C4023631	A first-trimester prenatal ultrasound finding of abnormal blood flow in the umbilical vein.	http://purl.obolibrary.org/obo/HP_0010949		
OBO:HP_0010950	Abnormality of the fourth ventricle	biolink:OntologyClass	hp	UMLS:C4023630	An abnormality of the fourth ventricle.	http://purl.obolibrary.org/obo/HP_0010950		
OBO:HP_0010951	Abnormality of the third ventricle	biolink:OntologyClass	hp	UMLS:C4023629	An abnormality of the third ventricle.	http://purl.obolibrary.org/obo/HP_0010951		
OBO:HP_0010952	Mild fetal ventriculomegaly	biolink:OntologyClass	hp	UMLS:C4023628	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).	http://purl.obolibrary.org/obo/HP_0010952		Mild foetal ventriculomegaly
OBO:HP_0010953	Noncommunicating hydrocephalus	biolink:OntologyClass	hp	MSH:D006849|SNOMEDCT_US:230746009|SNOMEDCT_US:82346000|UMLS:C0549423	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.	http://purl.obolibrary.org/obo/HP_0010953		
OBO:HP_0010954	Hypoplastic right heart	biolink:OntologyClass	hp	SNOMEDCT_US:268180007|SNOMEDCT_US:39589002|UMLS:C0265856|UMLS:C0344963	Underdevelopment of the right-sided structures of the heart.	http://purl.obolibrary.org/obo/HP_0010954		Underdeveloped right heart|Hypoplastic right heart syndrome
OBO:HP_0010955	Dilatation of the bladder	biolink:OntologyClass	hp	UMLS:C0549253	The presence of a dilated urinary bladder.	http://purl.obolibrary.org/obo/HP_0010955		
OBO:HP_0010956	Fetal megacystis	biolink:OntologyClass	hp	MSH:C536139|UMLS:C2931117	Fetal megacystis is an abnormally enlarged bladder identified at any gestational age.	http://purl.obolibrary.org/obo/HP_0010956		Foetal megacystis
OBO:HP_0010957	Congenital posterior urethral valve	biolink:OntologyClass	hp	SNOMEDCT_US:253900005|UMLS:C0238506	A developmental defect resulting in an obstructing membrane in the posterior male urethra.	http://purl.obolibrary.org/obo/HP_0010957		Posterior urethral valve|Posterior urethral valves
OBO:HP_0010958	Bilateral renal agenesis	biolink:OntologyClass	hp	MSH:C536482|SNOMEDCT_US:41962002|UMLS:C1609433	A bilateral form of agenesis of the kidney.	http://purl.obolibrary.org/obo/HP_0010958		
OBO:HP_0010959	Congenital cystic adenomatoid malformation of the lung	biolink:OntologyClass	hp	MSH:D015615|SNOMEDCT_US:111318005|UMLS:C0010668	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.	http://purl.obolibrary.org/obo/HP_0010959		CCAM|Congenital cystic disease of the lung|Cystic adenomatoid lung disease
OBO:HP_0010960	Bronchopulmonary sequestration	biolink:OntologyClass	hp	MSH:D001998|SNOMEDCT_US:18620009|UMLS:C0006288	The presence of microscopic cystic masses of nonfunctioning pulmonary tissue that lack an obvious communication with the tracheobronchial tree.	http://purl.obolibrary.org/obo/HP_0010960		
OBO:HP_0010961	Intralobar sequestration	biolink:OntologyClass	hp	UMLS:C4023627	A kind of bronchopulmonary sequestration that is incorporated into the normal surrounding lung.	http://purl.obolibrary.org/obo/HP_0010961		
OBO:HP_0010962	Extralobar sequestration	biolink:OntologyClass	hp	UMLS:C4023626	A kind of bronchopulmonary sequestration that is completely discrete from the normal lung and is surrounded by separate pleura.	http://purl.obolibrary.org/obo/HP_0010962		
OBO:HP_0010963	Absence of stomach bubble on fetal sonography	biolink:OntologyClass	hp	UMLS:C4023625	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.	http://purl.obolibrary.org/obo/HP_0010963		Absence of stomach bubble on foetal sonography
OBO:HP_0010964	Abnormal circulating long-chain fatty-acid concentration	biolink:OntologyClass	hp	UMLS:C4023624	Any deviation from the normal concentration of a long-chain fatty acid in the blood circulation.	http://purl.obolibrary.org/obo/HP_0010964		
OBO:HP_0010965	Abnormal circulating phytanic acid concentration	biolink:OntologyClass	hp	UMLS:C4023623	Any deviation from the normal concentration of phytanic acid in the blood circulation.	http://purl.obolibrary.org/obo/HP_0010965		Abnormal circulating phytanic acid level
OBO:HP_0010966	Abnormal circulating fatty-acid anion concentration	biolink:OntologyClass	hp	UMLS:C4021209	Any deviation from the normal concentration of a fatty acid anion in the blood circulation.	http://purl.obolibrary.org/obo/HP_0010966		Abnormality of fatty acid anion
OBO:HP_0010967	Abnormal circulating carnitine concentration	biolink:OntologyClass	hp	UMLS:C4020761|UMLS:C4021855	Any deviation from the normal concentration of carnitine in the blood circulation.	http://purl.obolibrary.org/obo/HP_0010967		Carnitine levels abnormal
OBO:HP_0010968	Abnormality of liposaccharide metabolism	biolink:OntologyClass	hp	UMLS:C4023622	An abnormality of liposaccharide metabolism.	http://purl.obolibrary.org/obo/HP_0010968		
OBO:HP_0010969	Abnormality of glycolipid metabolism	biolink:OntologyClass	hp	UMLS:C4023621	An abnormality of glycolipid metabolism.	http://purl.obolibrary.org/obo/HP_0010969		
OBO:HP_0010970	Blood group antigen abnormality	biolink:OntologyClass	hp	UMLS:C4023620	An abnormality of an erythrocyte cell surface molecule.	http://purl.obolibrary.org/obo/HP_0010970		
OBO:HP_0010971	Absence of Lutheran antigen on erythrocytes	biolink:OntologyClass	hp	UMLS:C4023619	Absence of the Lutheran antigen (a type I integral membrane glycoprotein) from the surface of red blood cells.	http://purl.obolibrary.org/obo/HP_0010971		
OBO:HP_0010972	Anemia of inadequate production	biolink:OntologyClass	hp	SNOMEDCT_US:70730006|UMLS:C0392708|UMLS:C0678199	A kind of anemia characterized by inadequate production of erythrocytes.	http://purl.obolibrary.org/obo/HP_0010972		Anaemia of inadequate production|Anemia, dyserythropoietic|Defective erythropoiesis|Dyserythropoietic anemia|Ineffective erythropoiesis
OBO:HP_0010974	Abnormal myeloid leukocyte morphology	biolink:OntologyClass	hp	UMLS:C4023618	An abnormality of myeloid leukocytes.	http://purl.obolibrary.org/obo/HP_0010974		Abnormality of myeloid leukocytes
OBO:HP_0010975	Abnormal B cell count	biolink:OntologyClass	hp	UMLS:C4021208	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.	http://purl.obolibrary.org/obo/HP_0010975		Abnormal number of B cells|Abnormal numbers of B cells|Abnormality of B cell count|Abnormality of B cell numbers
OBO:HP_0010976	B lymphocytopenia	biolink:OntologyClass	hp	UMLS:C1855067	An abnormal decrease from the normal count of B cells.	http://purl.obolibrary.org/obo/HP_0010976		Low B cell count|B cell deficiency|B cell lymphopenia|Decreased B cell count|Reduction in B cell number
OBO:HP_0010977	Abnormal phagocytosis	biolink:OntologyClass	hp	UMLS:C4023617	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.	http://purl.obolibrary.org/obo/HP_0010977		
OBO:HP_0010978	Abnormality of immune system physiology	biolink:OntologyClass	hp	UMLS:C4023616	A functional abnormality of the immune system.	http://purl.obolibrary.org/obo/HP_0010978		
OBO:HP_0010979	Abnormality of lipoprotein cholesterol concentration	biolink:OntologyClass	hp	UMLS:C4023615	An abnormal increase or decrease in the level of lipoprotein cholesterol in the blood.	http://purl.obolibrary.org/obo/HP_0010979		Abnormality of the level of lipoprotein cholesterol
OBO:HP_0010980	Hyperlipoproteinemia	biolink:OntologyClass	hp	MSH:D006951|SNOMEDCT_US:3744001|UMLS:C0020476	An abnormal increase in the level of lipoprotein cholesterol in the blood.	http://purl.obolibrary.org/obo/HP_0010980		
OBO:HP_0010981	Hypolipoproteinemia	biolink:OntologyClass	hp	MSH:D007009|SNOMEDCT_US:267436001|SNOMEDCT_US:363140000|UMLS:C0020623	An abnormal decrease in the level of lipoprotein cholesterol in the blood.	http://purl.obolibrary.org/obo/HP_0010981		Lack of fat in blood
OBO:HP_0010982	Polygenic inheritance	biolink:OntologyClass	hp	MSH:D020412|UMLS:C1148552	A type of multifactorial inheritance governed by the simultaneous action of many (more than three) gene loci.	http://purl.obolibrary.org/obo/HP_0010982		
OBO:HP_0010983	Oligogenic inheritance	biolink:OntologyClass	hp	MSH:D020412|UMLS:C1136026	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.	http://purl.obolibrary.org/obo/HP_0010983		
OBO:HP_0010984	Digenic inheritance	biolink:OntologyClass	hp	UMLS:C4023614	A type of multifactorial inheritance governed by the simultaneous action of two gene loci.	http://purl.obolibrary.org/obo/HP_0010984		
OBO:HP_0010985	Gonosomal inheritance	biolink:OntologyClass	hp	UMLS:C4023613	A mode of inheritance that is observed for traits related to a gene encoded on the sex chromosomes.	http://purl.obolibrary.org/obo/HP_0010985		
OBO:HP_0010987	Abnormal cellular immune system morphology	biolink:OntologyClass	hp	UMLS:C4023612	An abnormality of the morphology or counts of the cells that make up the immune system.	http://purl.obolibrary.org/obo/HP_0010987		
OBO:HP_0010988	Abnormality of the extrinsic pathway	biolink:OntologyClass	hp	UMLS:C4023611	An abnormality of the extrinsic pathway (also known as the tissue factor pathway) of the coagulation cascade.	http://purl.obolibrary.org/obo/HP_0010988		
OBO:HP_0010989	Abnormality of the intrinsic pathway	biolink:OntologyClass	hp	UMLS:C4023610	An abnormality of the intrinsic pathway (also known as the contact activation pathway) of the coagulation cascade.	http://purl.obolibrary.org/obo/HP_0010989		
OBO:HP_0010990	Abnormality of the common coagulation pathway	biolink:OntologyClass	hp	UMLS:C4023609	An abnormality of blood coagulation, common pathway.	http://purl.obolibrary.org/obo/HP_0010990		
OBO:HP_0010991	Abnormal morphology of the abdominal musculature	biolink:OntologyClass	hp	UMLS:C4023608	An abnormality of the abdominal musculature.	http://purl.obolibrary.org/obo/HP_0010991		Abnormality of the abdominal musculature
OBO:HP_0010992	Stress urinary incontinence	biolink:OntologyClass	hp	MSH:D014550|SNOMEDCT_US:22220005|UMLS:C0042025	Involuntary urine leakage synchronous with exertion, or actions such as sneezing, or coughing.	http://purl.obolibrary.org/obo/HP_0010992		
OBO:HP_0010993	Abnormality of the cerebral subcortex	biolink:OntologyClass	hp	UMLS:C4021207	An abnormality of the cerebral subcortex.	http://purl.obolibrary.org/obo/HP_0010993		Abnormality of the cerebral medulla
OBO:HP_0010994	Abnormal corpus striatum morphology	biolink:OntologyClass	hp	UMLS:C4023607	Abnormality of the striatum, which is the largest nucleus of the basal ganglia, comprising the caudate, putamen and ventral striatum, including the nucleus accumbens.	http://purl.obolibrary.org/obo/HP_0010994		Abnormality of the neostriatum|Abnormality of the striate nucleus|Abnormality of the striatum
OBO:HP_0010995	Abnormal circulating dicarboxylic acid concentration	biolink:OntologyClass	hp	UMLS:C4023606	Any deviation from the normal concentration of a dicarboxylic acid in the blood circulation.	http://purl.obolibrary.org/obo/HP_0010995		
OBO:HP_0010996	Abnormal circulating monocarboxylic acid cocentration	biolink:OntologyClass	hp	UMLS:C4023605	Any deviation from the normal concentration of a monocarboxylic acid in the blood circulation.	http://purl.obolibrary.org/obo/HP_0010996		
OBO:HP_0010997	Chromosomal breakage induced by ionizing radiation	biolink:OntologyClass	hp	UMLS:C4021206	Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with ionizing radiation.	http://purl.obolibrary.org/obo/HP_0010997		Chromosomal breakage induced by ionising radiation|Increased cellular radiosensitivity|Radiation-induced chromosome instability
OBO:HP_0010998	Increased susceptibility to spontaneous sister chromatid exchange	biolink:OntologyClass	hp	UMLS:C4023604	An increase in the number of spontaneous sister chromatid exchanges observed in cell culture of lymphocytes or other cells.	http://purl.obolibrary.org/obo/HP_0010998		
OBO:HP_0010999	Aplasia of the optic tract	biolink:OntologyClass	hp	UMLS:C4023603		http://purl.obolibrary.org/obo/HP_0010999		Absent optic tract
OBO:HP_0011000	Aplasia/Hypoplasia of the optic tract	biolink:OntologyClass	hp	UMLS:C4023602		http://purl.obolibrary.org/obo/HP_0011000		Absent/small optic tract|Absent/underdeveloped optic tract
OBO:HP_0011001	Increased bone mineral density	biolink:OntologyClass	hp	MSH:D010026|SNOMEDCT_US:49347007|UMLS:C0029464	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.	http://purl.obolibrary.org/obo/HP_0011001		Increased bone density|Increased bone mineral density|Osteosclerosis|Osteosclerosis of bones
OBO:HP_0011002	Osteopetrosis	biolink:OntologyClass	hp	MSH:D010022|SNOMEDCT_US:1926006|SNOMEDCT_US:367489004|UMLS:C0029454	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.	http://purl.obolibrary.org/obo/HP_0011002		Harder, denser, fracture-prone bones|Albers-Schoenberg disease|Albers-Schonberg disease|Albers-Schönberg disease|Marble bone disease
OBO:HP_0011003	High myopia	biolink:OntologyClass	hp	SNOMEDCT_US:34187009|UMLS:C0271183	A severe form of myopia with greater than -6.00 diopters.	http://purl.obolibrary.org/obo/HP_0011003	hposlim_core	Severe near sightedness|Severely close sighted|Severely near sighted|Severe myopia|Severe myopia (> -6.00 diopters)
OBO:HP_0011004	Abnormal systemic arterial morphology	biolink:OntologyClass	hp	Fyler:2600|SNOMEDCT_US:234119001|UMLS:C0151489|UMLS:C4021205	An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries.	http://purl.obolibrary.org/obo/HP_0011004		Abnormal systemic artery morphology|Abnormality of the systemic arterial tree|Systemic artery abnormality|Arterial abnormalities
OBO:HP_0011005	Mixed cirrhosis	biolink:OntologyClass	hp	UMLS:C1392669	A type of cirrhosis characterized by the presence of regenerative nodules of a variety of sizes.	http://purl.obolibrary.org/obo/HP_0011005		
OBO:HP_0011006	Abnormal morphology of the musculature of the neck	biolink:OntologyClass	hp	UMLS:C4023601	An abnormality of the neck musculature.	http://purl.obolibrary.org/obo/HP_0011006		Abnormality of the musculature of the neck|Neck muscle issue|Abnormality of cervical musculature
OBO:HP_0011008	Temporal pattern	biolink:OntologyClass	hp	UMLS:C4021204	The speed at which disease manifestations appear and develop.	http://purl.obolibrary.org/obo/HP_0011008		Speed of onset
OBO:HP_0011009	Acute	biolink:OntologyClass	hp	SNOMEDCT_US:272118002|UMLS:C0205178	Sudden appearance of disease manifestations over a short period of time.	http://purl.obolibrary.org/obo/HP_0011009		Acute onset
OBO:HP_0011010	Chronic	biolink:OntologyClass	hp	SNOMEDCT_US:90734009|UMLS:C0205191	Slow, creeping onset, slow progress and long continuance of disease manifestations.	http://purl.obolibrary.org/obo/HP_0011010		Chronic
OBO:HP_0011011	Subacute	biolink:OntologyClass	hp	SNOMEDCT_US:19939008|UMLS:C0205365	Somewhat rapid onset and change of disease manifestations.	http://purl.obolibrary.org/obo/HP_0011011		
OBO:HP_0011012	Abnormal circulating polysaccharide concentration	biolink:OntologyClass	hp	UMLS:C4023600	A deviation from the normal concentration of a polysaccharide in the blood circulation.	http://purl.obolibrary.org/obo/HP_0011012		
OBO:HP_0011013	Abnormal circulating carbohydrate concentration	biolink:OntologyClass	hp	UMLS:C4023599	A deviation from the normal concentration of a carbohydrate in the blood circulation.	http://purl.obolibrary.org/obo/HP_0011013		
OBO:HP_0011014	Abnormal glucose homeostasis	biolink:OntologyClass	hp	UMLS:C4023598	Abnormality of glucose homeostasis.	http://purl.obolibrary.org/obo/HP_0011014		
OBO:HP_0011015	Abnormal blood glucose concentration	biolink:OntologyClass	hp	UMLS:C4023597	An abnormality of the concentration of glucose in the blood.	http://purl.obolibrary.org/obo/HP_0011015		Abnormality of blood glucose concentration
OBO:HP_0011016	Abnormality of urine glucose concentration	biolink:OntologyClass	hp	UMLS:C4023596	An abnormality of the concentration of glucose in the urine.	http://purl.obolibrary.org/obo/HP_0011016		
OBO:HP_0011017	Abnormal cellular physiology	biolink:OntologyClass	hp	UMLS:C4023595	An abnormality in a cellular process.	http://purl.obolibrary.org/obo/HP_0011017		Abnormality of cell physiology
OBO:HP_0011018	Abnormality of the cell cycle	biolink:OntologyClass	hp	UMLS:C4023594	An abnormality of the cell cycle.	http://purl.obolibrary.org/obo/HP_0011018		Abnormality of the cell cycle
OBO:HP_0011019	Abnormality of chromosome condensation	biolink:OntologyClass	hp	UMLS:C4023593	An abnormality of chromosome condensation.	http://purl.obolibrary.org/obo/HP_0011019		
OBO:HP_0011020	Abnormality of mucopolysaccharide metabolism	biolink:OntologyClass	hp	UMLS:C4023592	An abnormality of the metabolism of mucopolysaccharide.	http://purl.obolibrary.org/obo/HP_0011020		
OBO:HP_0011021	Abnormality of circulating enzyme level	biolink:OntologyClass	hp	UMLS:C4023591		http://purl.obolibrary.org/obo/HP_0011021		
OBO:HP_0011022	Abnormal circulating unsaturated fatty acid concentration	biolink:OntologyClass	hp	UMLS:C4023590	A deviation from the normal concentration of an unsaturated fatty acid in the blood circulation.	http://purl.obolibrary.org/obo/HP_0011022		
OBO:HP_0011023	Abnormal circulating prostaglandin circulation	biolink:OntologyClass	hp	UMLS:C4023589	Any deviation from the normal concentration of a prostaglandin in the blood circulation.	http://purl.obolibrary.org/obo/HP_0011023		
OBO:HP_0011024	Abnormality of the gastrointestinal tract	biolink:OntologyClass	hp	MSH:D004066|MSH:D005767|SNOMEDCT_US:119292006|SNOMEDCT_US:25374005|SNOMEDCT_US:53619000|UMLS:C0012242|UMLS:C0017178|UMLS:C4023588	An abnormality of the gastrointestinal tract.	http://purl.obolibrary.org/obo/HP_0011024		Abnormality of the GI tract|Abnormality of the gastrointestinal tract|Digestive system disease|Gastrointestinal disease
OBO:HP_0011025	Abnormal cardiovascular system physiology	biolink:OntologyClass	hp	UMLS:C4023587	Abnormal functionality of the cardiovascular system.	http://purl.obolibrary.org/obo/HP_0011025		Abnormality of cardiovascular system physiology
OBO:HP_0011026	Aplasia/Hypoplasia of the vagina	biolink:OntologyClass	hp	UMLS:C4023586	Aplasia or developmental hypoplasia of the vagina.	http://purl.obolibrary.org/obo/HP_0011026		Absent/small vagina|Absent/underdeveloped vagina
OBO:HP_0011027	Abnormal fallopian tube morphology	biolink:OntologyClass	hp	UMLS:C0281842	An abnormality of the fallopian tube.	http://purl.obolibrary.org/obo/HP_0011027		Abnormality of the fallopian tube
OBO:HP_0011028	Abnormality of blood circulation	biolink:OntologyClass	hp	UMLS:C4020760|UMLS:C4023585	An abnormality of blood circulation.	http://purl.obolibrary.org/obo/HP_0011028		Blood circulation disorder
OBO:HP_0011029	Internal hemorrhage	biolink:OntologyClass	hp	UMLS:C1390214	The presence of hemorrhage within the body.	http://purl.obolibrary.org/obo/HP_0011029		Internal bleeding|Internal haemorrhage
OBO:HP_0011030	Abnormal blood transition element cation concentration	biolink:OntologyClass	hp	UMLS:C4023584	An abnormality of the homeostasis (concentration) of transition element cation.	http://purl.obolibrary.org/obo/HP_0011030		Abnormality of transition element cation homeostasis
OBO:HP_0011031	Abnormality of iron homeostasis	biolink:OntologyClass	hp	UMLS:C4023583	An abnormality of the homeostasis (concentration) of iron cation.	http://purl.obolibrary.org/obo/HP_0011031		
OBO:HP_0011032	Abnormality of fluid regulation	biolink:OntologyClass	hp	SNOMEDCT_US:1860003|SNOMEDCT_US:190902006|UMLS:C2364164	An abnormality of the regulation of body fluids.	http://purl.obolibrary.org/obo/HP_0011032		Abnormality of fluid regulation|Fluid imbalance
OBO:HP_0011033	Impairment of fructose metabolism	biolink:OntologyClass	hp	UMLS:C4023581	An impairment of a fructose metabolic process.	http://purl.obolibrary.org/obo/HP_0011033		
OBO:HP_0011034	Amyloidosis	biolink:OntologyClass	hp	MSH:D000686|SNOMEDCT_US:17602002|UMLS:C0002726	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.	http://purl.obolibrary.org/obo/HP_0011034		Amyloid disease
OBO:HP_0011035	Abnormal renal cortex morphology	biolink:OntologyClass	hp	UMLS:C4023580	An abnormality of the cortex of the kidney.	http://purl.obolibrary.org/obo/HP_0011035		Abnormality of renal cortex morphology
OBO:HP_0011036	Abnormality of renal excretion	biolink:OntologyClass	hp	MP:0005555|UMLS:C4023579	An altered ability of the kidneys to void urine and/or specific substances.	http://purl.obolibrary.org/obo/HP_0011036		
OBO:HP_0011037	Decreased urine output	biolink:OntologyClass	hp	UMLS:C3887784	A decreased rate of urine production.	http://purl.obolibrary.org/obo/HP_0011037		
OBO:HP_0011038	Abnormality of renal resorption	biolink:OntologyClass	hp	UMLS:C4023578	An abnormality of renal absorption.	http://purl.obolibrary.org/obo/HP_0011038		
OBO:HP_0011039	Abnormality of the helix	biolink:OntologyClass	hp	UMLS:C1856660	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.	http://purl.obolibrary.org/obo/HP_0011039	hposlim_core	Abnormal helices|Helix abnormal
OBO:HP_0011040	Abnormality of the intrahepatic bile duct	biolink:OntologyClass	hp	UMLS:C4023577	An abnormality of the intrahepatic bile duct.	http://purl.obolibrary.org/obo/HP_0011040		
OBO:HP_0011041	Aplasia/Hypoplasia of the cervical spine	biolink:OntologyClass	hp	UMLS:C4023576	Aplasia or developmental hypoplasia of the cervical vertebral column.	http://purl.obolibrary.org/obo/HP_0011041		Absent/small cervical spine|Absent/underdeveloped cervical spine
OBO:HP_0011042	Abnormal blood potassium concentration	biolink:OntologyClass	hp	UMLS:C4023575	An abnormal concentration of potassium.	http://purl.obolibrary.org/obo/HP_0011042		Abnormal blood K concentration|Abnormality of potassium homeostasis
OBO:HP_0011043	Abnormality of circulating adrenocorticotropin level	biolink:OntologyClass	hp	UMLS:C4023574	An abnormal concentration of corticotropin in the blood.	http://purl.obolibrary.org/obo/HP_0011043		Abnormality of circulating ACTH level|Abnormality of circulating corticotropin level|Abnormality of circulating adrenocorticotropic hormone level|Abnormality of circulating adrenocorticotropin level
OBO:HP_0011044	Abnormal number of permanent teeth	biolink:OntologyClass	hp	UMLS:C4023573	The presence of an altered number of of permanent teeth.	http://purl.obolibrary.org/obo/HP_0011044		Abnormal number of adult teeth|Abnormal number of permanent teeth|Abnormal complement of permanent teeth|Abnormal number of secondary dentition|Abnormal permanent tooth count
OBO:HP_0011045	Agenesis of permanent maxillary central incisor	biolink:OntologyClass	hp	UMLS:C4023572|UMLS:C4280358|UMLS:C4280359	Agenesis of upper secondary incisor.	http://purl.obolibrary.org/obo/HP_0011045		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
OBO:HP_0011046	Agenesis of primary maxillary central incisor	biolink:OntologyClass	hp	UMLS:C4023571|UMLS:C4280357	Agenesis of upper central primary incisor.	http://purl.obolibrary.org/obo/HP_0011046		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
OBO:HP_0011047	Agenesis of primary mandibular central incisor	biolink:OntologyClass	hp	UMLS:C4023570|UMLS:C4280355|UMLS:C4280356	Agenesis of lower primary incisor.	http://purl.obolibrary.org/obo/HP_0011047		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
OBO:HP_0011048	Agenesis of permanent mandibular central incisor	biolink:OntologyClass	hp	UMLS:C4023569|UMLS:C4280354	Agenesis of lower secondary incisor.	http://purl.obolibrary.org/obo/HP_0011048		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
OBO:HP_0011049	Agenesis of primary maxillary lateral incisor	biolink:OntologyClass	hp	UMLS:C4023568|UMLS:C4280353	Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor.	http://purl.obolibrary.org/obo/HP_0011049		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
OBO:HP_0011050	Agenesis of permanent maxillary lateral incisor	biolink:OntologyClass	hp	UMLS:C4023567|UMLS:C4280352	Agenesis of one or more upper lateral secondary incisor.	http://purl.obolibrary.org/obo/HP_0011050		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
OBO:HP_0011051	Agenesis of premolar	biolink:OntologyClass	hp	UMLS:C4023566|UMLS:C4280351	Agenesis of premolar tooth.	http://purl.obolibrary.org/obo/HP_0011051		Absence of premolar|Missing premolar|Agenesis of bicuspid|Failure of development of bicuspid|Failure of development of premolar|Absence of bicuspid|Missing bicuspid
OBO:HP_0011052	Agenesis of maxillary premolar	biolink:OntologyClass	hp	UMLS:C4023565|UMLS:C4280350	Agenesis of maxillary premolar.	http://purl.obolibrary.org/obo/HP_0011052		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
OBO:HP_0011053	Agenesis of mandibular premolar	biolink:OntologyClass	hp	UMLS:C4023564|UMLS:C4280349	Agenesis of mandibular premolar.	http://purl.obolibrary.org/obo/HP_0011053		Absence of lower premolar|Missing lower premolar|Failure of development of mandibular premolar|Absence of mandibular premolar|Missing mandibular premolar
OBO:HP_0011054	Agenesis of molar	biolink:OntologyClass	hp	UMLS:C4021203|UMLS:C4280348	Agenesis of molar tooth.	http://purl.obolibrary.org/obo/HP_0011054		Absent molars|Absence of molar|Missing molar|Failure of development of molar
OBO:HP_0011055	Agenesis of permanent molar	biolink:OntologyClass	hp	UMLS:C4023563|UMLS:C4280347	Agenesis of secondary molar tooth.	http://purl.obolibrary.org/obo/HP_0011055		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
OBO:HP_0011056	Agenesis of first permanent molar tooth	biolink:OntologyClass	hp	UMLS:C4023562|UMLS:C4280346	Agenesis of either maxillary first permanent molar or mandibular first permanent molar or both.	http://purl.obolibrary.org/obo/HP_0011056		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
OBO:HP_0011057	Agenesis of second permanent molar	biolink:OntologyClass	hp	UMLS:C4023561|UMLS:C4280257	Agenesis of either mandibular second permanent molar or maxillary second permanent molar.	http://purl.obolibrary.org/obo/HP_0011057		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
OBO:HP_0011058	Generalized periodontitis	biolink:OntologyClass	hp	UMLS:C4023560|UMLS:C4280345	A generalized form of periodontitis.	http://purl.obolibrary.org/obo/HP_0011058		Widespread gum disease|Generalised periodontitis|Generalized gum disease|Generalized periodontal disease
OBO:HP_0011059	Localized periodontitis	biolink:OntologyClass	hp	UMLS:C4023559|UMLS:C4280344	A localized form of periodontitis.	http://purl.obolibrary.org/obo/HP_0011059		Limited area of gum disease|Localized gum disease|Localised periodontitis|Localized periodontal disease
OBO:HP_0011060	Dentinogenesis imperfecta limited to primary teeth	biolink:OntologyClass	hp	MSH:D003805|SNOMEDCT_US:109492001|UMLS:C0011430|UMLS:C4023558	Developmental dysplasia of dentin affecting only the primary dentition.	http://purl.obolibrary.org/obo/HP_0011060		Dentinogenesis imperfecta of baby teeth|Dentin dysplasia
OBO:HP_0011061	Abnormality of dental structure	biolink:OntologyClass	hp	UMLS:C4023557	An abnormality of the structure or composition of the teeth.	http://purl.obolibrary.org/obo/HP_0011061		Abnormality of tooth part|Abnormality of tooth structure
OBO:HP_0011062	Misalignment of incisors	biolink:OntologyClass	hp	UMLS:C4023556|UMLS:C4280343	Misaligned incisor.	http://purl.obolibrary.org/obo/HP_0011062		Abnormality of position of incisors|Malposition of incisors|Abnormality of alignment of incisors|Crooked front teeth|Crooked incisors|Misalignment of incisors
OBO:HP_0011063	Abnormality of incisor morphology	biolink:OntologyClass	hp	UMLS:C4023555	An abnormality of morphology of the incisor tooth.	http://purl.obolibrary.org/obo/HP_0011063		Abnormality of shape of incisor
OBO:HP_0011064	Abnormal number of incisors	biolink:OntologyClass	hp	UMLS:C4023554	The presence of an altered number of the incisor teeth.	http://purl.obolibrary.org/obo/HP_0011064		Abnormal number of front teeth|Abnormal number of incisors
OBO:HP_0011065	Conical incisor	biolink:OntologyClass	hp	UMLS:C1856136|UMLS:C4020759|UMLS:C4280341|UMLS:C4280342	An abnormal conical morphology of the incisor tooth.	http://purl.obolibrary.org/obo/HP_0011065		Cone shaped front tooth|Shark tooth incisor|Peg shaped front tooth|Pointed front tooth|Conoid incisor|Peg shaped incisors|Peg-shaped incisors|Pointed incisor
OBO:HP_0011067	Mesiodens	biolink:OntologyClass	hp	MSH:D014096|SNOMEDCT_US:17802000|SNOMEDCT_US:266414008|SNOMEDCT_US:367534004|SNOMEDCT_US:8666004|UMLS:C0040457|UMLS:C0266030|UMLS:C4280340	The presence of a supernumerary tooth in the midline between the maxillary central incisors.	http://purl.obolibrary.org/obo/HP_0011067		Extra tooth|Extra tooth in the midline|Median supernumary tooth|Midline supernumary tooth|Mesiodentes
OBO:HP_0011068	Odontoma	biolink:OntologyClass	hp	MSH:D009810|SNOMEDCT_US:79074005|UMLS:C0028882	The presence of an odontoma.	http://purl.obolibrary.org/obo/HP_0011068		Odontomas
OBO:HP_0011069	Increased number of teeth	biolink:OntologyClass	hp	MSH:D014096|SNOMEDCT_US:266414008|SNOMEDCT_US:367534004|SNOMEDCT_US:8666004|UMLS:C0040457	The presence of a supernumerary, i.e., extra, tooth or teeth.	http://purl.obolibrary.org/obo/HP_0011069	hposlim_core	Extra teeth|Increased number of teeth|Increased tooth count|Supplemental teeth|More teeth than normal|Hyperdontia|Supernumerary teeth|Supernumerary tooth|Supplemental dentition|Supernumary dentition|Supernumary teeth
OBO:HP_0011070	Abnormality of molar morphology	biolink:OntologyClass	hp	UMLS:C4023553	An abnormality of morphology of molar tooth.	http://purl.obolibrary.org/obo/HP_0011070		Abnormal shape of molar tooth
OBO:HP_0011071	Abnormality of permanent molar morphology	biolink:OntologyClass	hp	UMLS:C4023552	An abnormality of morphology of permanent molar.	http://purl.obolibrary.org/obo/HP_0011071		Abnormality of shape of adult molar|Abnormality of shape of permanent molar
OBO:HP_0011072	Rootless teeth	biolink:OntologyClass	hp	MSH:C538215|SNOMEDCT_US:109493006|UMLS:C0399379|UMLS:C4082200		http://purl.obolibrary.org/obo/HP_0011072		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
OBO:HP_0011073	Abnormality of dental color	biolink:OntologyClass	hp	UMLS:C4023551	A developmental defect of tooth color.	http://purl.obolibrary.org/obo/HP_0011073		Abnormality of dental color|Abnormality of tooth color|Abnormality of tooth shade|Abnormality of dental colour|Abnormality of dental shade
OBO:HP_0011074	Localized hypoplasia of dental enamel	biolink:OntologyClass	hp	UMLS:C4023550|UMLS:C4280339	A localized form of developmental hypoplasia of the dental enamel.	http://purl.obolibrary.org/obo/HP_0011074		Localised hypoplasia of dental enamel|Localized hypoplasia of tooth enamel|Localized dysplasia of tooth enamel
OBO:HP_0011075	Green teeth	biolink:OntologyClass	hp	UMLS:C4023549	A green staining of teeth.	http://purl.obolibrary.org/obo/HP_0011075		Green colored teeth|Green teeth|Green tooth shade
OBO:HP_0011076	Abnormality of premolar	biolink:OntologyClass	hp	UMLS:C4023548	An abnormality of premolar tooth.	http://purl.obolibrary.org/obo/HP_0011076		Abnormality of premolar|Abnormality of bicuspid
OBO:HP_0011077	Abnormality of molar	biolink:OntologyClass	hp	UMLS:C4023547	An abnormality of molar tooth.	http://purl.obolibrary.org/obo/HP_0011077		Abnormality of molar
OBO:HP_0011078	Abnormality of canine	biolink:OntologyClass	hp	UMLS:C4023546	An abnormality of canine tooth.	http://purl.obolibrary.org/obo/HP_0011078		Abnormality of canine|Abnormality of eye tooth
OBO:HP_0011079	Impacted tooth	biolink:OntologyClass	hp	MSH:D014095|SNOMEDCT_US:129263008|SNOMEDCT_US:235104008|UMLS:C0040456|UMLS:C4280338	A tooth that has not erupted because of local impediments (overcrowding or fibrous gum overgrowth).	http://purl.obolibrary.org/obo/HP_0011079	hposlim_core	Buried tooth|Impacted tooth|Retained tooth
OBO:HP_0011080	Abnormality of premolar morphology	biolink:OntologyClass	hp	UMLS:C4023545	An abnormality of morphology of premolar tooth.	http://purl.obolibrary.org/obo/HP_0011080		Abnormality of shape of premolar|Abnormality of bicuspid morphology|Abnormality of shape of bicuspid
OBO:HP_0011081	Incisor macrodontia	biolink:OntologyClass	hp	UMLS:C4023544|UMLS:C4280337	Increased size of the incisor tooth.	http://purl.obolibrary.org/obo/HP_0011081		Increased size of incisor|Large incisor|Increased width of incisor|Hyperplasia of incisor|Hypertrophy of incisor
OBO:HP_0011082	Conical primary incisor	biolink:OntologyClass	hp	UMLS:C4023543	An abnormal conical morphology of the primary incisor.	http://purl.obolibrary.org/obo/HP_0011082		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
OBO:HP_0011083	Conical maxillary incisor	biolink:OntologyClass	hp	UMLS:C4023542	An abnormal conical morphology of either maxillary primary incisor tooth or maxillary permanent incisor tooth or both.	http://purl.obolibrary.org/obo/HP_0011083		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
OBO:HP_0011084	Hypocalcification of dental enamel	biolink:OntologyClass	hp	UMLS:C4023541	A form of hypomineralization of enamel characterized by reduced calcification.	http://purl.obolibrary.org/obo/HP_0011084		Decreased enamel calcification|Poorly calcified tooth enamel
OBO:HP_0011085	Hypomature dental enamel	biolink:OntologyClass	hp	UMLS:C4023540|UMLS:C4280266|UMLS:C4280336	A form of hypomineralization of enamel characterized by a chalky appearance of the enamel with orange, brown, or white color.	http://purl.obolibrary.org/obo/HP_0011085		Soft teeth|Soft tooth enamel|Immature tooth enamel
OBO:HP_0011086	Dentinogenesis imperfecta of primary and permanent teeth	biolink:OntologyClass	hp	UMLS:C4023539	Developmental dysplasia of dentin or both the primary dentition and the permanent dentition.	http://purl.obolibrary.org/obo/HP_0011086		Dentinogenesis imperfecta of adult and baby teeth|Dentinogenesis imperfecta of both sets of teeth
OBO:HP_0011087	Talon cusp	biolink:OntologyClass	hp	SNOMEDCT_US:234955005|SNOMEDCT_US:63691004|UMLS:C0266034|UMLS:C0399357|UMLS:C4280335	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).	http://purl.obolibrary.org/obo/HP_0011087	hposlim_core	Extra cusp on inside of front tooth|Dens evaginatus|Talon cusps
OBO:HP_0011088	Dens in dente	biolink:OntologyClass	hp	MSH:D003719|SNOMEDCT_US:55197001|UMLS:C0011320	An abnormality of the incisor characterized by invagination of the enamel, giving a radiographic appearance that suggests a tooth within a tooth.	http://purl.obolibrary.org/obo/HP_0011088		Tooth within a tooth|Dens invaginatus
OBO:HP_0011089	Double tooth	biolink:OntologyClass	hp	MSH:D005671|SNOMEDCT_US:1744008|UMLS:C0016873	A dental anomaly characterized by the presence of a two fused teeth.	http://purl.obolibrary.org/obo/HP_0011089		Conjoined teeth|Double tooth
OBO:HP_0011090	Fused teeth	biolink:OntologyClass	hp	MSH:D005671|SNOMEDCT_US:1744008|UMLS:C0016873	The union of two separately developing tooth germs typically leading to one less tooth than normal in the affected dental arch.	http://purl.obolibrary.org/obo/HP_0011090	hposlim_core	Fused teeth|Fusion of teeth|Joined teeth
OBO:HP_0011091	Gemination	biolink:OntologyClass	hp	SNOMEDCT_US:40273006|UMLS:C0266033	The development of two teeth from a single tooth bud, leading to a larger fused tooth.	http://purl.obolibrary.org/obo/HP_0011091		Splitting of crown of tooth|Gemination of tooth
OBO:HP_0011092	Mulberry molar	biolink:OntologyClass	hp	SNOMEDCT_US:109436001|UMLS:C0266024	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.	http://purl.obolibrary.org/obo/HP_0011092		Syphilitic permanent first molar
OBO:HP_0011093	Molarization of premolar	biolink:OntologyClass	hp	UMLS:C1404304|UMLS:C4280334	Increased size and molar morphology of premolar tooth.	http://purl.obolibrary.org/obo/HP_0011093		Molar shape of premolar|Enlarged premolar|Increased size of premolar|Molar shape of bicuspid|Molarization of bicuspid
OBO:HP_0011094	Overbite	biolink:OntologyClass	hp	MSH:D057887|SNOMEDCT_US:10816007|SNOMEDCT_US:251293001|SNOMEDCT_US:60476005|SNOMEDCT_US:63783001|UMLS:C0266063|UMLS:C0266067|UMLS:C1305740	Maxillary teeth cover the mandibular teeth when biting to an increased degree.	http://purl.obolibrary.org/obo/HP_0011094		Overbite|Deep bite|Deep overbite|Scissors bite|Increased overlap of upper and lower incisors
OBO:HP_0011095	Overjet	biolink:OntologyClass	hp	MSH:D057887|SNOMEDCT_US:251292006|SNOMEDCT_US:70305005|UMLS:C0596028	An abnormal anteroposterior extension of the maxillary teeth beyond the plane of the mandibular teeth upon jaw closure.	http://purl.obolibrary.org/obo/HP_0011095		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
OBO:HP_0011096	Peripheral demyelination	biolink:OntologyClass	hp	UMLS:C0878575	A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.	http://purl.obolibrary.org/obo/HP_0011096		Demyelination
OBO:HP_0011097	Epileptic spasm	biolink:OntologyClass	hp	MSH:D013036|SNOMEDCT_US:28055006|UMLS:C0037769|UMLS:C1527366	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	http://purl.obolibrary.org/obo/HP_0011097		Epileptic spasms|Salaam convulsions|Salaam seizures|Salaam convulsion|Salaam seizure|West syndrome
OBO:HP_0011098	Speech apraxia	biolink:OntologyClass	hp	MSH:D001072|SNOMEDCT_US:361276003|SNOMEDCT_US:361277007|SNOMEDCT_US:74227009|UMLS:C0264611|UMLS:C0349391	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.	http://purl.obolibrary.org/obo/HP_0011098		Apraxia of speech|Verbal dyspraxia
OBO:HP_0011099	Spastic hemiparesis	biolink:OntologyClass	hp	MSH:D006429|SNOMEDCT_US:79633009|UMLS:C0154694	Unilateral paresis (weakness) with spasticity of the affected muscles and increased tendon reflexes.	http://purl.obolibrary.org/obo/HP_0011099		Spastic hemiplegia
OBO:HP_0011100	Intestinal atresia	biolink:OntologyClass	hp	MSH:D007409|UMLS:C0021828	An abnormal closure, or atresia of the tubular structure of the intestine.	http://purl.obolibrary.org/obo/HP_0011100		
OBO:HP_0011102	Ileal atresia	biolink:OntologyClass	hp	SNOMEDCT_US:25896009|UMLS:C0266176	An abnormal closure, or atresia of the tubular structure of the ileum.	http://purl.obolibrary.org/obo/HP_0011102		
OBO:HP_0011103	Abnormal left ventricular outflow tract morphology	biolink:OntologyClass	hp	SNOMEDCT_US:253545000|UMLS:C0344916	An abnormality of the outflow tract of the left ventricle.	http://purl.obolibrary.org/obo/HP_0011103		Abnormality of the left ventricular outflow tract
OBO:HP_0011104	Abnormality of blood volume homeostasis	biolink:OntologyClass	hp	UMLS:C4023537	An abnormality in the amount of volume occupied by intravascular blood.	http://purl.obolibrary.org/obo/HP_0011104		
OBO:HP_0011105	Hypervolemia	biolink:OntologyClass	hp	SNOMEDCT_US:21639008|UMLS:C0546817	An increase in the amount of intravascular fluid, particularly in the volume of the circulating blood.	http://purl.obolibrary.org/obo/HP_0011105		Fluid overload in blood
OBO:HP_0011106	Hypovolemia	biolink:OntologyClass	hp	MSH:D020896|SNOMEDCT_US:28560003|UMLS:C0546884	An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood.	http://purl.obolibrary.org/obo/HP_0011106		Depleted blood volume
OBO:HP_0011107	Recurrent aphthous stomatitis	biolink:OntologyClass	hp	MSH:D013281|SNOMEDCT_US:110426005|SNOMEDCT_US:398870000|SNOMEDCT_US:426965005|SNOMEDCT_US:427617000|UMLS:C0038363|UMLS:C2937365	Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border.	http://purl.obolibrary.org/obo/HP_0011107		Recurrent canker sores|Recurrent oral aphthae|Aphthous stomatitis|Buccal aphthous ulcers|Recurrent aphthous ulcers
OBO:HP_0011108	Recurrent sinusitis	biolink:OntologyClass	hp	SNOMEDCT_US:195788001|UMLS:C0581354|UMLS:C4280333	A recurrent form of sinusitis.	http://purl.obolibrary.org/obo/HP_0011108		Recurrent sinus disease|Sinusitis, recurrent
OBO:HP_0011109	Chronic sinusitis	biolink:OntologyClass	hp	SNOMEDCT_US:40055000|UMLS:C0149516|UMLS:C0748720	A chronic form of sinusitis.	http://purl.obolibrary.org/obo/HP_0011109		Chronic sinus disease|Sinusitis, chronic
OBO:HP_0011110	Recurrent tonsillitis	biolink:OntologyClass	hp	MSH:D014069|SNOMEDCT_US:90176007|UMLS:C0040425	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.	http://purl.obolibrary.org/obo/HP_0011110		IRecurrent inflammation of tonsils
OBO:HP_0011111	Abnormality of immune serum protein physiology	biolink:OntologyClass	hp	UMLS:C4023536	An abnormality of the concentration or function of circulating immune proteins.	http://purl.obolibrary.org/obo/HP_0011111		
OBO:HP_0011112	Abnormality of serum cytokine level	biolink:OntologyClass	hp	MP:0010210|UMLS:C4023535	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.	http://purl.obolibrary.org/obo/HP_0011112		
OBO:HP_0011113	Abnormality of cytokine secretion	biolink:OntologyClass	hp	MP:0003009|UMLS:C4023534	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).	http://purl.obolibrary.org/obo/HP_0011113		
OBO:HP_0011114	Defective production of NFKB1-dependent cytokines	biolink:OntologyClass	hp	UMLS:C4023533	An impairment in the production by leukocytes of NFKB1-dependent cytokines such as tumor necrosis factor-alpha and interferon-alpha.	http://purl.obolibrary.org/obo/HP_0011114		
OBO:HP_0011115	Abnormality of chemokine secretion	biolink:OntologyClass	hp	UMLS:C4023532	An abnormality in the production or cellular release of a chemokine (a class of cytokines).	http://purl.obolibrary.org/obo/HP_0011115		
OBO:HP_0011116	Abnormality of interferon secretion	biolink:OntologyClass	hp	UMLS:C4023531	An abnormality in the production or cellular release of interferons (a class of cytokines).	http://purl.obolibrary.org/obo/HP_0011116		
OBO:HP_0011117	Abnormality of interleukin secretion	biolink:OntologyClass	hp	UMLS:C4023530	An abnormality in the production or cellular release of interleukins (a class of cytokines).	http://purl.obolibrary.org/obo/HP_0011117		Abnormality of IL secretion
OBO:HP_0011118	Abnormality of tumor necrosis factor secretion	biolink:OntologyClass	hp	MP:0008556|UMLS:C4023529	An abnormality in the production or cellular release of tumor necrosis factor.	http://purl.obolibrary.org/obo/HP_0011118		Abnormality of tumour necrosis factor secretion|Abnormality of cachectin secretion|Abnormality of cachexin secretion
OBO:HP_0011119	Abnormality of the nasal dorsum	biolink:OntologyClass	hp	UMLS:C4021202|UMLS:C4280332	An abnormality of the nasal dorsum, also known as the nasal ridge.	http://purl.obolibrary.org/obo/HP_0011119		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
OBO:HP_0011120	Concave nasal ridge	biolink:OntologyClass	hp	SNOMEDCT_US:710234009|UMLS:C0264169	Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip.	http://purl.obolibrary.org/obo/HP_0011120	hposlim_core	Boxer's nasal deformity|Boxer's nose deformity|Saddle nose|Ski jump nose|Saddle nose deformity|Concave dorsum of nose|Concave nasal dorsum|Saddle shaped nasal dorsum
OBO:HP_0011121	Abnormality of skin morphology	biolink:OntologyClass	hp	Fyler:4133|UMLS:C4023528	Any morphological abnormality of the skin.	http://purl.obolibrary.org/obo/HP_0011121		Abnormal skin structure|Abnormal skin morphology
OBO:HP_0011122	Abnormality of skin physiology	biolink:OntologyClass	hp	UMLS:C4023527	Any abnormality of the physiological function of the skin.	http://purl.obolibrary.org/obo/HP_0011122		Abnormality of skin physiology
OBO:HP_0011123	Inflammatory abnormality of the skin	biolink:OntologyClass	hp	MP:0004947|MSH:D003872|SNOMEDCT_US:703938007|UMLS:C0011603|UMLS:C3875321	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.	http://purl.obolibrary.org/obo/HP_0011123		Inflammatory abnormality of the skin|Skin inflammation|Abnormal tendency to infections of the skin|Dermatitis|Inflammatory skin disease
OBO:HP_0011124	Abnormality of epidermal morphology	biolink:OntologyClass	hp	UMLS:C4023526	An abnormality of the morphology of the epidermis.	http://purl.obolibrary.org/obo/HP_0011124		
OBO:HP_0011125	Abnormality of dermal melanosomes	biolink:OntologyClass	hp	UMLS:C4023525	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).	http://purl.obolibrary.org/obo/HP_0011125		
OBO:HP_0011126	Nephroptosis	biolink:OntologyClass	hp	UMLS:C1384594	A significant descent of the kidney as the patient moves from the supine to the erect position.	http://purl.obolibrary.org/obo/HP_0011126		Floating kidney|Renal ptosis
OBO:HP_0011127	Perioral eczema	biolink:OntologyClass	hp	UMLS:C1396126	A type of eczema that occurs in the lips and perioral area.	http://purl.obolibrary.org/obo/HP_0011127		Eczema around the mouth
OBO:HP_0011128	Acute esophageal necrosis	biolink:OntologyClass	hp	UMLS:C4023524	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.	http://purl.obolibrary.org/obo/HP_0011128		
OBO:HP_0011129	Bilateral fetal pyelectasis	biolink:OntologyClass	hp	UMLS:C4023523	A bilateral form of fetal pyelectasis.	http://purl.obolibrary.org/obo/HP_0011129		Bilateral foetal pyelectasis|Bilateral fetal pyelectasia
OBO:HP_0011130	Abnormal renal calyx morphology	biolink:OntologyClass	hp	UMLS:C4023522	Any abnormality of the morphology of the major calices or minor calices of the kidney.	http://purl.obolibrary.org/obo/HP_0011130		Abnormality of renal calyx morphology
OBO:HP_0011131	Perianal rash	biolink:OntologyClass	hp	UMLS:C0240705	The presence of a rash (change of color and texture) of the perianal skin.	http://purl.obolibrary.org/obo/HP_0011131		
OBO:HP_0011132	Chronic furunculosis	biolink:OntologyClass	hp	UMLS:C4023521	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.	http://purl.obolibrary.org/obo/HP_0011132		
OBO:HP_0011133	Increased sensitivity to ionizing radiation	biolink:OntologyClass	hp	UMLS:C4021850	An abnormally increased sensitivity to the effects of ionizing radiation.	http://purl.obolibrary.org/obo/HP_0011133		Increased sensitivity to ionising radiation
OBO:HP_0011134	Low-grade fever	biolink:OntologyClass	hp	SNOMEDCT_US:304213008|UMLS:C0239574	Mild fever that does not exceed 38.5 degree centrigrade.	http://purl.obolibrary.org/obo/HP_0011134		Low-grade fever|Mild fever
OBO:HP_0011135	Aplasia/Hypoplasia of the sweat glands	biolink:OntologyClass	hp	UMLS:C4023520	Absence or developmental hypoplasia of the sweat glands.	http://purl.obolibrary.org/obo/HP_0011135		Absent/small sweat glands|Absent/underdeveloped sweat glands
OBO:HP_0011136	Aplasia of the sweat glands	biolink:OntologyClass	hp	UMLS:C2677485	Absence of the sweat glands.	http://purl.obolibrary.org/obo/HP_0011136		Absent sweat glands|Lack of sweat glands
OBO:HP_0011137	Non-pruritic urticaria	biolink:OntologyClass	hp	UMLS:C4023519	Pale reddish slightly elevated papules and plaques of 0.5-3 cm in diameter and not accompanied by pruritus.	http://purl.obolibrary.org/obo/HP_0011137		Non-itchy hives
OBO:HP_0011138	Abnormality of skin adnexa morphology	biolink:OntologyClass	hp	UMLS:C4023518	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.	http://purl.obolibrary.org/obo/HP_0011138		Abnormal skin appendage
OBO:HP_0011139	Gastric duplication	biolink:OntologyClass	hp	UMLS:C4021201	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.	http://purl.obolibrary.org/obo/HP_0011139		Gastric duplication cyst
OBO:HP_0011140	Gastrointestinal duplication	biolink:OntologyClass	hp	SNOMEDCT_US:33257003|UMLS:C0266019	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.	http://purl.obolibrary.org/obo/HP_0011140		GI duplication
OBO:HP_0011141	Age-related cataract	biolink:OntologyClass	hp	SNOMEDCT_US:39450006|UMLS:C0036646	A type of cataract (opacification of the lens) that forms during the course of aging.	http://purl.obolibrary.org/obo/HP_0011141		Clouding of the lens of the eye with age
OBO:HP_0011142	Age-related nuclear cataract	biolink:OntologyClass	hp	MSH:C563333|UMLS:C1832423	A type of age-related cataract that primarily affects the nucleus of the lens.	http://purl.obolibrary.org/obo/HP_0011142		
OBO:HP_0011143	Age-related cortical cataract	biolink:OntologyClass	hp	UMLS:C2880562	A type of age-related cataract that primarily affects the cortex of the lens.	http://purl.obolibrary.org/obo/HP_0011143		
OBO:HP_0011144	Age-related posterior subcapsular cataract	biolink:OntologyClass	hp	UMLS:C4023517	A type of age-related cataract consisting of granular opacities occurring mainly in the central posterior cortex just under the posterior capsule.	http://purl.obolibrary.org/obo/HP_0011144		
OBO:HP_0011145	Symptomatic seizures	biolink:OntologyClass	hp	UMLS:C4023516	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.	http://purl.obolibrary.org/obo/HP_0011145		
OBO:HP_0011146	Dialeptic seizure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0011146		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
OBO:HP_0011147	Typical absence seizure	biolink:OntologyClass	hp	MSH:D004832|SNOMEDCT_US:230413002|SNOMEDCT_US:432241000124101|SNOMEDCT_US:50866000|SNOMEDCT_US:79631006|UMLS:C0014553	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.	http://purl.obolibrary.org/obo/HP_0011147		Typical absence seizures|Typical absence
OBO:HP_0011148	obsolete Absence seizures with special features	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0011148		
OBO:HP_0011149	Absence seizure with eyelid myoclonia	biolink:OntologyClass	hp	UMLS:C4023513	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.	http://purl.obolibrary.org/obo/HP_0011149		Absence seizures with eyelid myoclonia
OBO:HP_0011150	Myoclonic absence seizure	biolink:OntologyClass	hp	UMLS:C4023512	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.	http://purl.obolibrary.org/obo/HP_0011150		Myoclonic absences|Myoclonic absence
OBO:HP_0011151	Atypical absence status epilepticus	biolink:OntologyClass	hp	UMLS:C4023511	Atypical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged atypical absence seizure.	http://purl.obolibrary.org/obo/HP_0011151		Obtundation status
OBO:HP_0011152	Early onset absence seizures	biolink:OntologyClass	hp	UMLS:C4023510	Typical absence seizures starting before the age of 4 years.	http://purl.obolibrary.org/obo/HP_0011152		Early onset petit mal seizures
OBO:HP_0011153	Focal motor seizure	biolink:OntologyClass	hp	MSH:D020938|SNOMEDCT_US:128612007|SNOMEDCT_US:82401000|UMLS:C0016399	A type of focal-onset seizure characterized by a motor sign as its initial semiological manifestation.	http://purl.obolibrary.org/obo/HP_0011153		Focal motor seizures|Partial motor seizures|Localised motor seizure|Localized motor seizure|Localized motor seizures|Partial motor seizure|Segmental motor seizure
OBO:HP_0011154	Focal autonomic seizure	biolink:OntologyClass	hp	UMLS:C4023509	An autonomic seizure is a type of focal non-motor seizure characterized by alteration of autonomic nervous system function as the initial semiological feature.	http://purl.obolibrary.org/obo/HP_0011154		Autonomic auras|Focal autonomic seizures|Autonomic aura|Vegetative auras
OBO:HP_0011155	obsolete Focal autonomic seizures with altered responsiveness	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0011155		
OBO:HP_0011156	obsolete Focal autonomic seizures without altered responsiveness	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0011156		
OBO:HP_0011157	Focal sensory seizure	biolink:OntologyClass	hp	MSH:D004827|SNOMEDCT_US:18618006|UMLS:C0236018	A focal sensory seizure is a type seizure beginning with a subjective sensation.	http://purl.obolibrary.org/obo/HP_0011157		Focal sensory seizures|Partial sensory seizure|Sensory aura
OBO:HP_0011158	Focal sensory seizure with auditory features	biolink:OntologyClass	hp	UMLS:C1838063	A seizure characterized by elementary auditory phenomena including buzzing, ringing, drumming or single tones as its first clinical manifestation.	http://purl.obolibrary.org/obo/HP_0011158		Auditory aura|Focal auditory seizure|Focal sensory auditory seizure|Partial auditory seizure
OBO:HP_0011159	Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena	biolink:OntologyClass	hp	UMLS:C4023506	A type of focal autonomic seizure characterised by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature.	http://purl.obolibrary.org/obo/HP_0011159		Epigastric auras|Abdominal aura|Epigastric aura|Localised seizure with epigastric sensation|Localized seizure with epigastric sensation|Partial seizure with epigastric sensation|Visceral aura
OBO:HP_0011160	Focal sensory seizure with gustatory features	biolink:OntologyClass	hp	MSH:D006212|SNOMEDCT_US:29139005|UMLS:C0233766	A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes as its first clinical manifestation.	http://purl.obolibrary.org/obo/HP_0011160		Taste hallucinations|Gustatory auras|Focal gustatory seizure|Focal sensory gustatory seizure|Gustatory aura|Partial gustatory seizure
OBO:HP_0011161	Focal sensory seizure with olfactory features	biolink:OntologyClass	hp	UMLS:C4023504	Seizures characterized by olfactory phenomena as its first clinical manifestation.	http://purl.obolibrary.org/obo/HP_0011161		Olfactory auras|Focal olfactory seizure|Olfactory aura|Partial olfactory seizure
OBO:HP_0011162	obsolete Psychic auras	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0011162		
OBO:HP_0011163	Focal sensory seizure with somatosensory features	biolink:OntologyClass	hp	UMLS:C4023502	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.	http://purl.obolibrary.org/obo/HP_0011163		Somatosensory auras|Focal somatosensory seizure|Partial somatosensory seizure|Somatosensory aura
OBO:HP_0011164	obsolete Vegetative auras	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0011164		
OBO:HP_0011165	Focal sensory seizure with visual features	biolink:OntologyClass	hp	UMLS:C1850765	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.	http://purl.obolibrary.org/obo/HP_0011165		Visual auras|Focal visual seizure|Partial visual seizure|Visual aura|Simple partial occipital seizures
OBO:HP_0011166	Focal myoclonic seizure	biolink:OntologyClass	hp	UMLS:C4023501	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.	http://purl.obolibrary.org/obo/HP_0011166		Focal myoclonic seizures|Local myoclonic seizures|Segmental myoclonic seizures|Localised myoclonic seizure|Localized myoclonic seizure|Partial myoclonic seizure|Partial myoclonic seizures|Segmental myoclonic seizure
OBO:HP_0011167	Focal tonic seizure	biolink:OntologyClass	hp	MSH:D020938|UMLS:C0752324	A type of focal motor seizure characterized by sustained increase in muscle contraction, lasting a few seconds to minutes.	http://purl.obolibrary.org/obo/HP_0011167		Focal tonic seizures|Local tonic seizures|Partial tonic seizures|Localised tonic seizure|Localized tonic seizure|Partial tonic seizure|Segmental tonic seizure
OBO:HP_0011168	Eyelid myoclonias	biolink:OntologyClass	hp	UMLS:C4023500	Focal seizure with eyelid myoclonia, not eyelid myoclonias in the context of absence seizures.	http://purl.obolibrary.org/obo/HP_0011168		
OBO:HP_0011169	Generalized clonic seizure	biolink:OntologyClass	hp	UMLS:C4023499	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.	http://purl.obolibrary.org/obo/HP_0011169		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
OBO:HP_0011170	Generalized myoclonic-atonic seizure	biolink:OntologyClass	hp	MSH:D004831|SNOMEDCT_US:230421008|UMLS:C0393702	A generalized myoclonic-atonic seizure is a type of generalized motor seizure characterized by a myoclonic jerk followed by an atonic motor component.	http://purl.obolibrary.org/obo/HP_0011170		Myoclonic atonic seizures|Generalised myoclonic-atonic seizure|Myoclonic-astatic seizure
OBO:HP_0011171	Simple febrile seizure	biolink:OntologyClass	hp	MSH:D003294|SNOMEDCT_US:432354000|UMLS:C0149886	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.	http://purl.obolibrary.org/obo/HP_0011171		Simple febrile seizures|Simple febrile convulsion|Simple fever fit
OBO:HP_0011172	Complex febrile seizure	biolink:OntologyClass	hp	MSH:D003294|SNOMEDCT_US:433083002|UMLS:C0751057	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.	http://purl.obolibrary.org/obo/HP_0011172		Complex febrile seizures|Complex febrile convulsion|Complex fever fit
OBO:HP_0011173	Focal behavior arrest seizure	biolink:OntologyClass	hp	UMLS:C4023498	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.	http://purl.obolibrary.org/obo/HP_0011173		Hypokinetic seizures|Focal behaviour arrest seizure|Focal hypokinetic seizure|Hypokinetic seizure|Localised seizure with behavioural arrest|Localized seizure with behavioral arrest|Partial hypokinetic seizure|Partial seizure with behavior arrest
OBO:HP_0011174	Focal hyperkinetic seizure	biolink:OntologyClass	hp	UMLS:C4023497	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.	http://purl.obolibrary.org/obo/HP_0011174		Hyperkinetic seizures|Localised hyperkinetic seizure|Localized hyperkinetic seizure|Partial hyperkinetic seizure|Segmental hyperkinetic seizure
OBO:HP_0011175	Focal motor seizure with version	biolink:OntologyClass	hp	MSH:D020938|SNOMEDCT_US:246530009|UMLS:C0422846	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.	http://purl.obolibrary.org/obo/HP_0011175		Versive seizures|Versive seizure
OBO:HP_0011176	EEG with constitutional variants	biolink:OntologyClass	hp	UMLS:C4023496	An EEG with constitutional variants contains waves that are rare or unusual but not generally pathologic.	http://purl.obolibrary.org/obo/HP_0011176		
OBO:HP_0011177	EEG with 4-5/second background activity	biolink:OntologyClass	hp	UMLS:C4023495	EEG background activity at 4-5/second.	http://purl.obolibrary.org/obo/HP_0011177		
OBO:HP_0011178	Alpha-EEG	biolink:OntologyClass	hp	UMLS:C4023494	EEG dominated by diffuse alpha-waves (8-13Hz).	http://purl.obolibrary.org/obo/HP_0011178		
OBO:HP_0011179	Beta-EEG	biolink:OntologyClass	hp	UMLS:C4023493	EEG dominated by diffuse beta-waves (>13 Hz).	http://purl.obolibrary.org/obo/HP_0011179		Beta wave electroencephalography
OBO:HP_0011180	Partial beta-EEG	biolink:OntologyClass	hp	UMLS:C4023492	EEG dominated by diffuse beta waves (>13 Hz) with occipitally localized alpha waves (8-13 Hz).	http://purl.obolibrary.org/obo/HP_0011180		
OBO:HP_0011181	Low voltage EEG	biolink:OntologyClass	hp	UMLS:C1851759	EEG with an amplitude less than 30 microvolts without observable occipital alpha rhythm (8-13 Hz).	http://purl.obolibrary.org/obo/HP_0011181		
OBO:HP_0011182	Interictal epileptiform activity	biolink:OntologyClass	hp	UMLS:C4023491	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.	http://purl.obolibrary.org/obo/HP_0011182		Epileptiform EEG discharges
OBO:HP_0011183	EEG with hyperventilation-induced focal epileptiform discharges	biolink:OntologyClass	hp	UMLS:C4023490	Focal epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).	http://purl.obolibrary.org/obo/HP_0011183		
OBO:HP_0011184	EEG with hyperventilation-induced generalized epileptiform discharges	biolink:OntologyClass	hp	UMLS:C4023489	Generalized epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).	http://purl.obolibrary.org/obo/HP_0011184		EEG with hyperventilation-induced generalised epileptiform discharges
OBO:HP_0011185	EEG with focal epileptiform discharges	biolink:OntologyClass	hp	UMLS:C4021199	EEG discharges recorded in particular areas of a localized (focal) abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).	http://purl.obolibrary.org/obo/HP_0011185		Focal EEG Abnormality
OBO:HP_0011186	Focal epileptiform discharges with limited propagation to contralateral hemisphere	biolink:OntologyClass	hp	UMLS:C4023488	Focal epileptiform discharges with spreading to contralateral hemisphere but without secondary generalization.	http://purl.obolibrary.org/obo/HP_0011186		
OBO:HP_0011187	Focal EEG discharges with propagation to ipsilateral hemisphere	biolink:OntologyClass	hp	UMLS:C4023487	Focal epileptiform discharges with spreading to the hemisphere on the same side of the brain.	http://purl.obolibrary.org/obo/HP_0011187		
OBO:HP_0011188	Focal EEG discharges with secondary generalization	biolink:OntologyClass	hp	UMLS:C4023486	Focal EEG discharges that secondarily spread to both hemispheres and can then be recorded over the entire scalp.	http://purl.obolibrary.org/obo/HP_0011188		Focal EEG discharges with secondary generalisation
OBO:HP_0011189	Bilateral multifocal epileptiform discharges	biolink:OntologyClass	hp	UMLS:C4023485	Epileptiform discharges being identified at multiple locations in both hemispheres.	http://purl.obolibrary.org/obo/HP_0011189		
OBO:HP_0011190	Uni- and bilateral multifocal epileptiform discharges	biolink:OntologyClass	hp	UMLS:C4023484	Epileptiform discharges identified at multiple locations temporarily in both hemispheres and temporarily in one hemisphere.	http://purl.obolibrary.org/obo/HP_0011190		
OBO:HP_0011191	Unilateral multifocal epileptiform discharges	biolink:OntologyClass	hp	UMLS:C4023483	Epileptiform discharges being identified at multiple locations in one hemisphere.	http://purl.obolibrary.org/obo/HP_0011191		
OBO:HP_0011192	Polymorphic focal epileptiform discharges	biolink:OntologyClass	hp	UMLS:C4023482	Focal epileptiform discharges of different shapes and frequencies.	http://purl.obolibrary.org/obo/HP_0011192		
OBO:HP_0011193	EEG with focal spikes	biolink:OntologyClass	hp	UMLS:C4023481	EEG with focal sharp transient waves of a duration less than 80 msec.	http://purl.obolibrary.org/obo/HP_0011193		
OBO:HP_0011194	EEG with series of focal spikes	biolink:OntologyClass	hp	UMLS:C4023480	Focal spikes occurring for several seconds.	http://purl.obolibrary.org/obo/HP_0011194		
OBO:HP_0011195	EEG with focal sharp slow waves	biolink:OntologyClass	hp	UMLS:C4023479	EEG with focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.	http://purl.obolibrary.org/obo/HP_0011195		
OBO:HP_0011196	EEG with focal sharp waves	biolink:OntologyClass	hp	UMLS:C4023478	EEG with focal sharp transient waves of a duration between 80 and 200 msec.	http://purl.obolibrary.org/obo/HP_0011196		
OBO:HP_0011197	EEG with focal spike waves	biolink:OntologyClass	hp	UMLS:C4023477	EEG with focal sharp transient waves of a duration less than 80 msec followed by a slow wave.	http://purl.obolibrary.org/obo/HP_0011197		
OBO:HP_0011198	EEG with generalized epileptiform discharges	biolink:OntologyClass	hp	UMLS:C4023476	EEG discharges recorded on the entire scalp typically seen in persons with epilepsy.	http://purl.obolibrary.org/obo/HP_0011198		EEG with generalised epileptiform discharges
OBO:HP_0011199	EEG with generalized sharp slow waves	biolink:OntologyClass	hp	UMLS:C4023475	EEG with generalized sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.	http://purl.obolibrary.org/obo/HP_0011199		EEG with generalised sharp slow waves
OBO:HP_0011200	EEG with generalized polymorphic epileptiform discharges	biolink:OntologyClass	hp	UMLS:C4023474	Generalized epileptiform discharges of different shapes and frequencies.	http://purl.obolibrary.org/obo/HP_0011200		EEG with generalised polymorphic epileptiform discharges
OBO:HP_0011201	EEG with changes in voltage	biolink:OntologyClass	hp	UMLS:C4023473	EEG with abnormal amplitude.	http://purl.obolibrary.org/obo/HP_0011201		
OBO:HP_0011202	EEG with diffuse acceleration	biolink:OntologyClass	hp	UMLS:C4023472	EEG frequency is abnormally increased.	http://purl.obolibrary.org/obo/HP_0011202		
OBO:HP_0011203	EEG with abnormally slow frequencies	biolink:OntologyClass	hp	UMLS:C4023471	EEG with abnormally slow frequencies.	http://purl.obolibrary.org/obo/HP_0011203		
OBO:HP_0011204	EEG with continuous slow activity	biolink:OntologyClass	hp	UMLS:C4023470	EEG showing diffuse slowing without interruption.	http://purl.obolibrary.org/obo/HP_0011204		
OBO:HP_0011205	EEG with intermittent slow activity	biolink:OntologyClass	hp	UMLS:C4023469	Non-continuous diffuse slowing of electroencephalographic patterns.	http://purl.obolibrary.org/obo/HP_0011205		
OBO:HP_0011206	EEG with generalized slow activity grade 1	biolink:OntologyClass	hp	UMLS:C4023468	Slowing at frequencies between 7.5 and 8.5 Hz.	http://purl.obolibrary.org/obo/HP_0011206		EEG with generalised slow activity grade 1
OBO:HP_0011207	EEG with generalized slow activity grade 2	biolink:OntologyClass	hp	UMLS:C4023467	Generalized slowing of EEG activity at frequencies between 4-7 Hz.	http://purl.obolibrary.org/obo/HP_0011207		EEG with generalised slow activity grade 2
OBO:HP_0011208	EEG with generalized slow activity grade 3	biolink:OntologyClass	hp	UMLS:C4023466	Generalized slowing of EEG activity at frequencies between 0.5-3 Hz.	http://purl.obolibrary.org/obo/HP_0011208		EEG with generalised slow activity grade 3
OBO:HP_0011209	EEG with generalized slow activity grade 4	biolink:OntologyClass	hp	UMLS:C4021198	EEG without electrical activity.	http://purl.obolibrary.org/obo/HP_0011209		EEG with generalised slow activity grade 4|Flat line EEG
OBO:HP_0011210	EEG with occipital slowing	biolink:OntologyClass	hp	UMLS:C4023465	Slowing in occipital areas of the scalp EEG.	http://purl.obolibrary.org/obo/HP_0011210		
OBO:HP_0011211	EEG with photoparoxysmal response grade I	biolink:OntologyClass	hp	UMLS:C4023464	Occurrence of epileptiform discharges in occipital regions during photic stimulation.	http://purl.obolibrary.org/obo/HP_0011211		
OBO:HP_0011212	EEG with photoparoxysmal response grade II	biolink:OntologyClass	hp	UMLS:C4023463	Occurence of epileptiform discharges in occipital and central regions during photic stimulation.	http://purl.obolibrary.org/obo/HP_0011212		
OBO:HP_0011213	EEG with photoparoxysmal response grade III	biolink:OntologyClass	hp	UMLS:C4023462	Occurrence of epileptiform discharges in occipital, central, temporal and parietal regions during photic stimulation.	http://purl.obolibrary.org/obo/HP_0011213		
OBO:HP_0011214	EEG with photoparoxysmal response grade IV	biolink:OntologyClass	hp	UMLS:C4023461	Occurrence of generalized epileptiform discharges during photic stimulation.	http://purl.obolibrary.org/obo/HP_0011214		
OBO:HP_0011215	Hemihypsarrhythmia	biolink:OntologyClass	hp	UMLS:C4023460	Hypsarrhythmia occurring in one hemisphere.	http://purl.obolibrary.org/obo/HP_0011215		
OBO:HP_0011217	Abnormal shape of the occiput	biolink:OntologyClass	hp	UMLS:C4023459	An abnormal shape of occiput.	http://purl.obolibrary.org/obo/HP_0011217		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
OBO:HP_0011218	Abnormal shape of the frontal region	biolink:OntologyClass	hp	UMLS:C4023458	An abnormal shape of the frontal part of the head.	http://purl.obolibrary.org/obo/HP_0011218		Abnormal shape of the forehead|Abnormal morphology of the frontal region|Dysmorphic forehead|Dysmorphic frontal region
OBO:HP_0011219	Short face	biolink:OntologyClass	hp	UMLS:C4023457	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).	http://purl.obolibrary.org/obo/HP_0011219	hposlim_core	Decreased height of face|Decreased length of face|Short face|Vertical shortening of face|Decreased vertical dimension of face|Short facies|Vertical Facial Deficiency|Vertical deficiency of face|Vertical facial insufficiency|Vertical hypoplasia of face|Vertical insufficiency of face
OBO:HP_0011220	Prominent forehead	biolink:OntologyClass	hp	UMLS:C1837260|UMLS:C1867446	Forward prominence of the entire forehead, due to protrusion of the frontal bone.	http://purl.obolibrary.org/obo/HP_0011220	hposlim_core	Prominent forehead|Pronounced forehead|Protruding forehead|Bulging forehead|Prominence of frontal region
OBO:HP_0011221	Vertical forehead creases	biolink:OntologyClass	hp	UMLS:C4023456	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.	http://purl.obolibrary.org/obo/HP_0011221	hposlim_core	Frontal creases of face|Vertical forehead creases|Vertical forehead wrinkles|Vertical forehead rhytids
OBO:HP_0011222	Depressed glabella	biolink:OntologyClass	hp	UMLS:C4023455	Posterior positioning of the glabella, i.e., of the midline forehead between the supraorbital ridges.	http://purl.obolibrary.org/obo/HP_0011222		Deficient area between the eyebrows|Flat area between the eyebrows|Concave glabella|Deficiency of glabella|Flat glabella|Hypoplasia of glabella
OBO:HP_0011223	Metopic depression	biolink:OntologyClass	hp	UMLS:C4023454	Linear vertical groove in the midline of the forehead, extending from hairline to glabella.	http://purl.obolibrary.org/obo/HP_0011223	hposlim_core	Depression of frontal cranial suture|Depression of metopic cranial suture|Frontal suture depression
OBO:HP_0011224	Ablepharon	biolink:OntologyClass	hp	SNOMEDCT_US:13401001|SNOMEDCT_US:708541009|UMLS:C0266574|UMLS:C4020757	Absent eyelids.	http://purl.obolibrary.org/obo/HP_0011224	hposlim_core	Absent eyelids|Missing eyelids|Ablepharon of eyelid|Agenesis of eyelids|Aplasia of the eyelids
OBO:HP_0011225	Epiblepharon	biolink:OntologyClass	hp	SNOMEDCT_US:253212001|UMLS:C0344503	Redundant eyelid skin pressing the eyelashes against the cornea and/or conjunctiva.	http://purl.obolibrary.org/obo/HP_0011225	hposlim_core	
OBO:HP_0011226	Aplasia/Hypoplasia of the eyelid	biolink:OntologyClass	hp	UMLS:C4023453	Absence or underdevelopment of the eyelid.	http://purl.obolibrary.org/obo/HP_0011226		Failure of development of eyelid|Hypotrophic eyelid
OBO:HP_0011227	Elevated C-reactive protein level	biolink:OntologyClass	hp	UMLS:C0742906|UMLS:C4023452	An abnormal elevation of the C-reactive protein level in serum.	http://purl.obolibrary.org/obo/HP_0011227		Elevated CRP
OBO:HP_0011228	Horizontal eyebrow	biolink:OntologyClass	hp	UMLS:C3277019	An eyebrow that extends straight across the brow, without curve.	http://purl.obolibrary.org/obo/HP_0011228	hposlim_core	Lack of eyebrow arch|Lack of eyebrow curvature|Flat eyebrow|Horizontal eyebrow|Straight eyebrow|Straight eyebrows
OBO:HP_0011229	Broad eyebrow	biolink:OntologyClass	hp	UMLS:C1856121	Regional increase in the width (height) of the eyebrow.	http://purl.obolibrary.org/obo/HP_0011229	hposlim_core	Broad eyebrow|Broad eyebrows|Flared eyebrow|Increased vertical height of eyebrow|Increased vertical thickness of eyebrow|Flared eyebrows|Increased vertical width of eyebrow
OBO:HP_0011230	Laterally extended eyebrow	biolink:OntologyClass	hp	UMLS:C4023451	An eyebrow that extends laterally beyond the orbital rim rather than turning gently downward at that location.	http://purl.obolibrary.org/obo/HP_0011230		Laterally extended eyebrows|Increased lateral length of eyebrow|Laterally elongated eyebrow
OBO:HP_0011231	Prominent eyelashes	biolink:OntologyClass	hp	UMLS:C1835802|UMLS:C4023450	Eyelashes that draw the attention of the viewer due to increased density and/or length and/or curl without meeting the criteria of trichomegaly.	http://purl.obolibrary.org/obo/HP_0011231		Prominent eyelashes|Thick eyelashes
OBO:HP_0011232	Infra-orbital fold	biolink:OntologyClass	hp	UMLS:C4023449	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.	http://purl.obolibrary.org/obo/HP_0011232	hposlim_core	Infraorbital fold|Dennie-Morgan fold
OBO:HP_0011233	Antihelical shelf	biolink:OntologyClass	hp	UMLS:C4021197	Antihelix protrusion directed more anteriorly than laterally, forming a shelf overlying the posterior concha.	http://purl.obolibrary.org/obo/HP_0011233		Conchal shelf
OBO:HP_0011234	Absent antihelix	biolink:OntologyClass	hp	UMLS:C4023448	No discernible ridge between concha and triangular fossa and helix.	http://purl.obolibrary.org/obo/HP_0011234		
OBO:HP_0011235	Additional crus of antihelix	biolink:OntologyClass	hp	UMLS:C4023447	Supernumerary ridge or crus of the ear arising from the antihelix.	http://purl.obolibrary.org/obo/HP_0011235		
OBO:HP_0011236	Angulated antihelix	biolink:OntologyClass	hp	UMLS:C4023446	Antihelical ridge that forms an acute angle between the antitragus and its bifurcation (stem) instead of a gently curving arc.	http://purl.obolibrary.org/obo/HP_0011236		
OBO:HP_0011237	Broad inferior crus of antihelix	biolink:OntologyClass	hp	UMLS:C4021196	Increased width of the inferred cross-section of the inferior crus.	http://purl.obolibrary.org/obo/HP_0011237		Antihelix, inferior crus, broad
OBO:HP_0011238	Prominent inferior crus of antihelix	biolink:OntologyClass	hp	UMLS:C4021195	Increased protrusion of the inferior crus relative to the prominence of the antihelix stem.	http://purl.obolibrary.org/obo/HP_0011238		Antihelix, inferior crus, prominent|Hyperplastic inferior crus of antihelix|Hypertrophic inferior crus of antihelix
OBO:HP_0011239	Underdeveloped inferior crus of antihelix	biolink:OntologyClass	hp	UMLS:C4021194	Decreased protrusion of the inferior crus relative to the prominence of the antihelix stem.	http://purl.obolibrary.org/obo/HP_0011239		Antihelix, inferior crus, underdeveloped|Hypoplastic inferior crus of antihelix|Hypotrophic inferior crus of antihelix
OBO:HP_0011240	Prominent stem of antihelix	biolink:OntologyClass	hp	UMLS:C4020910	Increased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of the helix.	http://purl.obolibrary.org/obo/HP_0011240		Hyperplastic antihelix stem|Hypertrophic antihelix stem
OBO:HP_0011241	Serpiginous stem of antihelix	biolink:OntologyClass	hp	UMLS:C4021193	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.	http://purl.obolibrary.org/obo/HP_0011241		Antihelix, stem, serpiginous
OBO:HP_0011242	Underdeveloped stem of antihelix	biolink:OntologyClass	hp	UMLS:C4021192	Decreased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of a normal helix.	http://purl.obolibrary.org/obo/HP_0011242		Antihelix, stem, underdeveloped
OBO:HP_0011243	Abnormality of inferior crus of antihelix	biolink:OntologyClass	hp	UMLS:C4021191	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.	http://purl.obolibrary.org/obo/HP_0011243		Abnormality of anterior crus of antihelix
OBO:HP_0011244	Abnormality of stem of antihelix	biolink:OntologyClass	hp	UMLS:C4023445	An abnormality of the stem of the antihelix, which is the part below the bifurcation of the antihelix into the inferior and superior crura.	http://purl.obolibrary.org/obo/HP_0011244		
OBO:HP_0011245	Abnormality of superior crus of antihelix	biolink:OntologyClass	hp	UMLS:C4021190	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.	http://purl.obolibrary.org/obo/HP_0011245		Abnormality of posterior crus of antihelix
OBO:HP_0011246	Underdeveloped superior crus of antihelix	biolink:OntologyClass	hp	UMLS:C4021189	Decreased protrusion of the superior crus relative to the prominence of a normal antihelix stem.	http://purl.obolibrary.org/obo/HP_0011246		Hypoplastic superior crus of antihelix|Hypotrophic superior crus of antihelix
OBO:HP_0011247	Prominent superior crus of antihelix	biolink:OntologyClass	hp	UMLS:C4021188	Increased protrusion of the superior crus relative to the prominence of a normal antihelix stem.	http://purl.obolibrary.org/obo/HP_0011247		Hyperplastic superior crus of antihelix|Hypertrophic superior crus of antihelix
OBO:HP_0011248	Everted antitragus	biolink:OntologyClass	hp	UMLS:C4023444	Positioning of the antitragus at an angle perpendicular to the plane of the ear (oriented away from the plane of the ear).	http://purl.obolibrary.org/obo/HP_0011248		
OBO:HP_0011249	Absent antitragus	biolink:OntologyClass	hp	UMLS:C4023443	Absence of the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix.	http://purl.obolibrary.org/obo/HP_0011249		
OBO:HP_0011250	Bifid antitragus	biolink:OntologyClass	hp	UMLS:C4021187	Double rather than single peak of the antitragus.	http://purl.obolibrary.org/obo/HP_0011250		Double antitragus
OBO:HP_0011251	Underdeveloped antitragus	biolink:OntologyClass	hp	UMLS:C4021186	Reduction in the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix.	http://purl.obolibrary.org/obo/HP_0011251		Hypoplastic antitragus|Hypotrophic antitragus|Small antitragus
OBO:HP_0011252	Cryptotia	biolink:OntologyClass	hp	SNOMEDCT_US:429967001|UMLS:C2315717	Invagination of the superior part of the auricle under a fold of temporal skin.	http://purl.obolibrary.org/obo/HP_0011252	hposlim_core	Buried ear|Hidden ear
OBO:HP_0011253	Type I cryptotia	biolink:OntologyClass	hp	UMLS:C4023442	A type of cryptotia associated with reduction in size of the antihelix and superior crus.	http://purl.obolibrary.org/obo/HP_0011253		Type 1 cryptotia
OBO:HP_0011254	Type II cryptotia	biolink:OntologyClass	hp	UMLS:C4023441	A type of cryptotia associated with reduction in size of the antihelix and inferior crus that are affected.	http://purl.obolibrary.org/obo/HP_0011254		Type 2 cryptotia
OBO:HP_0011255	Absent crus of helix	biolink:OntologyClass	hp	UMLS:C4021185	Continuum between the tragus and ascending helix, without any evidence of a posterior extension (crus) towards the concha.	http://purl.obolibrary.org/obo/HP_0011255		Helix, crus, absent
OBO:HP_0011256	Crus of helix connected to antihelix	biolink:OntologyClass	hp	UMLS:C4021184	Extension of the ridge of the crus helix across the ear and connection of the crus to the antihelix.	http://purl.obolibrary.org/obo/HP_0011256		Helix, crus, connected to antihelix
OBO:HP_0011257	Serpiginous crus of helix	biolink:OntologyClass	hp	UMLS:C4021183	Curving course of the crus of the helix, approaching or joining the antitragus.	http://purl.obolibrary.org/obo/HP_0011257		Helix, crus, serpiginous
OBO:HP_0011258	Tragal bridge of crus of helix	biolink:OntologyClass	hp	UMLS:C4021182	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.	http://purl.obolibrary.org/obo/HP_0011258		Helix, crus, tragal bridge
OBO:HP_0011259	Expanded terminal portion of crus of helix	biolink:OntologyClass	hp	UMLS:C4021181	Widening, rather than tapering, of the crus at its posterior border near the antihelix.	http://purl.obolibrary.org/obo/HP_0011259		Helix, crus, expanded terminal portion
OBO:HP_0011260	Darwin notch of helix	biolink:OntologyClass	hp	UMLS:C4021180	Small defect of the helical fold that lies at the junction of the superior and descending portions of the helix.	http://purl.obolibrary.org/obo/HP_0011260		Helix, Darwin notch
OBO:HP_0011261	Darwin tubercle of helix	biolink:OntologyClass	hp	UMLS:C4021179	Small expansion of the helical fold at the junction of the superior and descending portions of the helix.	http://purl.obolibrary.org/obo/HP_0011261		Helix, Darwin tubercle
OBO:HP_0011262	Crimped helix	biolink:OntologyClass	hp	UMLS:C4021178	Linear, circumferential indentation in the convexity of the outer surface of the helix.	http://purl.obolibrary.org/obo/HP_0011262		Helix, crimped|Indented helix
OBO:HP_0011263	Forward facing earlobe	biolink:OntologyClass	hp	UMLS:C4021177	Positioning of the anterior surface of the ear lobe in a more coronal plane than the remainder of the ear.	http://purl.obolibrary.org/obo/HP_0011263		Forward facing earlobe|Lobe, forward facing
OBO:HP_0011264	Discontinuous ascending root of helix	biolink:OntologyClass	hp	UMLS:C4021176	Interruption between the ascending helix and the crus helix, allowing the ascending helix to be attached directly to the mastoid.	http://purl.obolibrary.org/obo/HP_0011264		Helix, discontinuous ascending root
OBO:HP_0011265	Cleft earlobe	biolink:OntologyClass	hp	UMLS:C4023440	Discontinuity in the convexity of the inferior margin of the lobe.	http://purl.obolibrary.org/obo/HP_0011265	hposlim_core	Cleft earlobe
OBO:HP_0011266	Microtia, first degree	biolink:OntologyClass	hp	UMLS:C4021175	Presence of all the normal ear components and the median longitudinal length more than two standard deviations below the mean.	http://purl.obolibrary.org/obo/HP_0011266		First-degree microtia
OBO:HP_0011267	Microtia, third degree	biolink:OntologyClass	hp	UMLS:C4021174|UMLS:C4280331	Presence of some auricular structures, but none of these structures conform to recognized ear components.	http://purl.obolibrary.org/obo/HP_0011267		Abnormal shape/structure of ear|Third-degree microtia
OBO:HP_0011268	Absent tragus	biolink:OntologyClass	hp	UMLS:C4023439	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.	http://purl.obolibrary.org/obo/HP_0011268	hposlim_core	
OBO:HP_0011269	Bifid tragus	biolink:OntologyClass	hp	UMLS:C4021173	Increased height of the tragal ridge with a shallow indentation at the apex, giving the appearance of a double peak.	http://purl.obolibrary.org/obo/HP_0011269		Notched tragus|Tragus, bifid
OBO:HP_0011270	Duplicated tragus	biolink:OntologyClass	hp	UMLS:C4021172	A complete or partial duplication of the tragus; expected to lie anterior to the normal tragus.	http://purl.obolibrary.org/obo/HP_0011270		Accesory tragus|Tragus, duplicated
OBO:HP_0011271	Prominent tragus	biolink:OntologyClass	hp	UMLS:C4021171	Increase posterolateral protrusion of the tragus.	http://purl.obolibrary.org/obo/HP_0011271	hposlim_core	Enlarged tragus|Hyperplastic tragus|Hypertrophic tragus|Large tragus|Tragus, prominent
OBO:HP_0011272	Underdeveloped tragus	biolink:OntologyClass	hp	UMLS:C4013429	Decreased posterolateral protrusion of the tragus.	http://purl.obolibrary.org/obo/HP_0011272		Hypoplastic tragus|Hypotrophic tragus|Small tragus
OBO:HP_0011273	Anisocytosis	biolink:OntologyClass	hp	SNOMEDCT_US:165475005|SNOMEDCT_US:57241006|UMLS:C0221278	Abnormally increased variability in the size of erythrocytes.	http://purl.obolibrary.org/obo/HP_0011273		Unequal size of red blood cells
OBO:HP_0011274	Recurrent mycobacterial infections	biolink:OntologyClass	hp	UMLS:C4023438	Increased susceptibility to mycobacterial infections, as manifested by recurrent episodes of mycobacterial infection.	http://purl.obolibrary.org/obo/HP_0011274		
OBO:HP_0011275	Recurrent mycobacterium avium complex infections	biolink:OntologyClass	hp	UMLS:C1737260	Increased susceptibility to mycobacterial avium complex infections, as manifested by recurrent episodes of mycobacterial infection.	http://purl.obolibrary.org/obo/HP_0011275		
OBO:HP_0011276	Vascular skin abnormality	biolink:OntologyClass	hp	MSH:D017445|SNOMEDCT_US:11263005|UMLS:C0162819|UMLS:C1842892		http://purl.obolibrary.org/obo/HP_0011276		Skin vascular malformation|Vascular abnormalities restricted to skin
OBO:HP_0011277	Abnormality of the urinary system physiology	biolink:OntologyClass	hp	UMLS:C4023437		http://purl.obolibrary.org/obo/HP_0011277		
OBO:HP_0011278	Intrapulmonary sequestration	biolink:OntologyClass	hp	UMLS:C4023436	A type of pulmonary sequestration that occurs within the visceral pleura of normal lung tissue, usually without communication with the tracheobronchial tree.	http://purl.obolibrary.org/obo/HP_0011278		
OBO:HP_0011279	Abnormality of urine bicarbonate concentration	biolink:OntologyClass	hp	UMLS:C4023435	An abnormality of the concentration of hydrogencarbonate in the urine.	http://purl.obolibrary.org/obo/HP_0011279		Abnormality of urine HCO3 concentration
OBO:HP_0011280	Abnormality of urine calcium concentration	biolink:OntologyClass	hp	UMLS:C4023434	An abnormality of calcium concentration in the urine.	http://purl.obolibrary.org/obo/HP_0011280		Abnormality of urine Ca concentration|Abnormality of urine Ca2+ concentration
OBO:HP_0011281	Abnormality of urine catecholamine concentration	biolink:OntologyClass	hp	MP:0011478|UMLS:C4023433	An abnormal level of urinary catecholamine concentration.	http://purl.obolibrary.org/obo/HP_0011281		
OBO:HP_0011282	Abnormality of hindbrain morphology	biolink:OntologyClass	hp	UMLS:C4021170	An abnormality of the hindbrain, also known as the rhombencephalon.	http://purl.obolibrary.org/obo/HP_0011282		Abnormal shape of hindbrain|Abnormality of the hindbrain
OBO:HP_0011283	Abnormality of the metencephalon	biolink:OntologyClass	hp	UMLS:C4023432	An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum.	http://purl.obolibrary.org/obo/HP_0011283		
OBO:HP_0011284	Short-segment aganglionic megacolon	biolink:OntologyClass	hp	UMLS:C4023431	A type of aganglionic megacolon in which the aganglionic segment does not extend beyond the upper sigmoid.	http://purl.obolibrary.org/obo/HP_0011284		
OBO:HP_0011285	Long-segment aganglionic megacolon	biolink:OntologyClass	hp	UMLS:C4023430	A type of aganglionic megacolon in which the aganglionic segment extends proximal to the sigmoid.	http://purl.obolibrary.org/obo/HP_0011285		
OBO:HP_0011286	Total colonic aganglionosis	biolink:OntologyClass	hp	MSH:D006627|SNOMEDCT_US:253780003|SNOMEDCT_US:360441005|UMLS:C0085758	A type of aganglionic megacolon in which the aganglionic segment comprises the entire colon.	http://purl.obolibrary.org/obo/HP_0011286		
OBO:HP_0011287	EEG with occipital sharp slow waves	biolink:OntologyClass	hp	UMLS:C4023429	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.	http://purl.obolibrary.org/obo/HP_0011287		
OBO:HP_0011288	EEG with parietal sharp slow waves	biolink:OntologyClass	hp	UMLS:C4023428	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.	http://purl.obolibrary.org/obo/HP_0011288		
OBO:HP_0011289	EEG with temporal sharp slow waves	biolink:OntologyClass	hp	UMLS:C4023427	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.	http://purl.obolibrary.org/obo/HP_0011289		
OBO:HP_0011290	EEG with frontal sharp slow waves	biolink:OntologyClass	hp	UMLS:C4023426	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.	http://purl.obolibrary.org/obo/HP_0011290		
OBO:HP_0011291	EEG with central sharp slow waves	biolink:OntologyClass	hp	UMLS:C4023425	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.	http://purl.obolibrary.org/obo/HP_0011291		
OBO:HP_0011292	EEG with occipital sharp waves	biolink:OntologyClass	hp	UMLS:C2206521	EEG with sharp waves in the occipital region, i.e., sharp transient waves of a duration between 80 and 200 msec.	http://purl.obolibrary.org/obo/HP_0011292		
OBO:HP_0011293	EEG with central sharp waves	biolink:OntologyClass	hp	UMLS:C2207327	EEG with sharp waves in the central region, i.e., sharp transient waves of a duration between 80 and 200 msec.	http://purl.obolibrary.org/obo/HP_0011293		
OBO:HP_0011294	EEG with frontal sharp waves	biolink:OntologyClass	hp	UMLS:C2206518	EEG with sharp waves in the frontal region, i.e., sharp transient waves of a duration between 80 and 200 msec.	http://purl.obolibrary.org/obo/HP_0011294		
OBO:HP_0011295	EEG with parietal sharp waves	biolink:OntologyClass	hp	UMLS:C2206520	EEG with sharp waves in the parietal region, i.e., sharp transient waves of a duration between 80 and 200 msec.	http://purl.obolibrary.org/obo/HP_0011295		
OBO:HP_0011296	EEG with temporal sharp waves	biolink:OntologyClass	hp	UMLS:C2206519	EEG with sharp waves in the temporal region, i.e., sharp transient waves of a duration between 80 and 200 msec.	http://purl.obolibrary.org/obo/HP_0011296		
OBO:HP_0011297	Abnormal digit morphology	biolink:OntologyClass	hp	UMLS:C3550704	A morphological abnormality of a digit, i.e., of a finger or toe.	http://purl.obolibrary.org/obo/HP_0011297	hposlim_core	Abnormality of fingers or toes|Abnormality of digit|Digital anomalies
OBO:HP_0011298	Prominent digit pad	biolink:OntologyClass	hp	UMLS:C4023424	A soft tissue prominence of the ventral aspects of the fingertips or toe tips.	http://purl.obolibrary.org/obo/HP_0011298		Prominent digit pad
OBO:HP_0011299	Partial absence of finger	biolink:OntologyClass	hp	UMLS:C4023423	The absence of a phalangeal segment of a finger.	http://purl.obolibrary.org/obo/HP_0011299	hposlim_core	Partial absence of finger
OBO:HP_0011300	Broad fingertip	biolink:OntologyClass	hp	UMLS:C1968816	Increased width of the distal segment of a finger.	http://purl.obolibrary.org/obo/HP_0011300	hposlim_core	Broad fingertip|Broad fingertips
OBO:HP_0011301	Absent foot	biolink:OntologyClass	hp	SNOMEDCT_US:371197005|UMLS:C0265624	The total absence of the foot, with no bony elements distal to the tibia or fibula.	http://purl.obolibrary.org/obo/HP_0011301	hposlim_core	Absent foot|Aplasia of the foot|Apodia
OBO:HP_0011302	Long palm	biolink:OntologyClass	hp	UMLS:C4023422	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.	http://purl.obolibrary.org/obo/HP_0011302	hposlim_core	Long palm
OBO:HP_0011303	Convex contour of sole	biolink:OntologyClass	hp	UMLS:C4023421	The contour of the foot in lateral profile has a convex shape.	http://purl.obolibrary.org/obo/HP_0011303		
OBO:HP_0011304	Broad thumb	biolink:OntologyClass	hp	SNOMEDCT_US:249773003|UMLS:C0426891	Increased thumb width without increased dorso-ventral dimension.	http://purl.obolibrary.org/obo/HP_0011304	hposlim_core	Broad thumb|Broad thumbs|Wide/broad thumb|Broad phalanges of the thumb|Wide/broad thumb phalanges
OBO:HP_0011305	Partial absence of toe	biolink:OntologyClass	hp	UMLS:C4021169	The absence of a phalangeal segment of a toe or hallux.	http://purl.obolibrary.org/obo/HP_0011305		Partial absence of toe|Hypophalangy of toes
OBO:HP_0011307	Splayed toes	biolink:OntologyClass	hp	UMLS:C2117390	Divergence of digits along the anteroposterior axis (in the plane of the sole).	http://purl.obolibrary.org/obo/HP_0011307		Splayed toes
OBO:HP_0011308	Slender toe	biolink:OntologyClass	hp	UMLS:C4021168	Toes that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual.	http://purl.obolibrary.org/obo/HP_0011308		Narrow toe|Slender toe
OBO:HP_0011309	Tapered toe	biolink:OntologyClass	hp	UMLS:C4021167	The gradual reduction in girth of the toe from proximal to distal.	http://purl.obolibrary.org/obo/HP_0011309		Tapered toe|Tapering toes
OBO:HP_0011310	Bridged palmar crease	biolink:OntologyClass	hp	UMLS:C4021166	A crease that connects the proximal and distal transverse palmar creases.	http://purl.obolibrary.org/obo/HP_0011310		Bridged palm line|Transitional palmar crease
OBO:HP_0011311	Sydney crease	biolink:OntologyClass	hp	UMLS:C4023420	Extension of the proximal transverse crease (five finger crease) to the ulnar edge of the palm.	http://purl.obolibrary.org/obo/HP_0011311		
OBO:HP_0011312	Fused nails	biolink:OntologyClass	hp	UMLS:C4023419	A nail plate that has a longitudinal separation with partially separated nails, each with a separate lateral radius of curvature.	http://purl.obolibrary.org/obo/HP_0011312		Fused nails
OBO:HP_0011313	Narrow nail	biolink:OntologyClass	hp	UMLS:C4021829	Decreased width of nail.	http://purl.obolibrary.org/obo/HP_0011313		Narrow nail
OBO:HP_0011314	Abnormality of long bone morphology	biolink:OntologyClass	hp	UMLS:C4021165	An abnormality of size or shape of the long bones.	http://purl.obolibrary.org/obo/HP_0011314		Abnormal shape of long bone|Abnormality of the tubular bones
OBO:HP_0011315	Unicoronal synostosis	biolink:OntologyClass	hp	UMLS:C4020756|UMLS:C4023418	Synostosis affecting only one of the coronal sutures.	http://purl.obolibrary.org/obo/HP_0011315		Unilateral coronal suture craniosynostosis|Unilateral coronal suture synostosis|Unilateral coronal craniosynostosis
OBO:HP_0011316	Left unicoronal synostosis	biolink:OntologyClass	hp	UMLS:C4023417	Synostosis affecting only the left coronal suture.	http://purl.obolibrary.org/obo/HP_0011316		
OBO:HP_0011317	Right unicoronal synostosis	biolink:OntologyClass	hp	UMLS:C4023416	Unicoronal synostosis affecting only the right coronal suture.	http://purl.obolibrary.org/obo/HP_0011317		
OBO:HP_0011318	Bicoronal synostosis	biolink:OntologyClass	hp	UMLS:C4021164	Synostosis affecting the right and the left coronal suture.	http://purl.obolibrary.org/obo/HP_0011318	hposlim_core	Bilateral coronal craniosynostosis|Bilateral coronal suture craniosynostosis|Bilateral coronal suture synostosis
OBO:HP_0011319	Bilambdoid synostosis	biolink:OntologyClass	hp	UMLS:C4021163	Premature synostosis of both lambdoid sutures.	http://purl.obolibrary.org/obo/HP_0011319	hposlim_core	Bilateral lambdoid craniosynostosis|Bilateral lambdoid suture synostosis
OBO:HP_0011320	Unilambdoid synostosis	biolink:OntologyClass	hp	UMLS:C4021162	Premature synostosis of only one lambdoid suture.	http://purl.obolibrary.org/obo/HP_0011320	hposlim_core	Unilateral lambdoid craniosynostosis|Unilateral lambdoid suture synostosis
OBO:HP_0011321	Left unilambdoid synostosis	biolink:OntologyClass	hp	UMLS:C4023415	Premature synostosis of only the left lambdoid suture.	http://purl.obolibrary.org/obo/HP_0011321		
OBO:HP_0011322	Right unilambdoid synostosis	biolink:OntologyClass	hp	UMLS:C4023414	Premature synostosis of only the right lambdoid suture.	http://purl.obolibrary.org/obo/HP_0011322		
OBO:HP_0011323	Cleft of chin	biolink:OntologyClass	hp	UMLS:C1849227	Incomplete fusion of the chin, resulting from a developmental defect and manifesting as a midline cleft or fissure of the chin.	http://purl.obolibrary.org/obo/HP_0011323		Cleft of chin|Midline defect of chin
OBO:HP_0011324	Multiple suture craniosynostosis	biolink:OntologyClass	hp	UMLS:C4021161	Craniosynostosis involving at least 2 cranial sutures, where the exact pattern of sutures fused has not been precisely specified.	http://purl.obolibrary.org/obo/HP_0011324		Multisutural craniosynostosis
OBO:HP_0011325	Pansynostosis	biolink:OntologyClass	hp	UMLS:C4021827	Craniosynostosis of all calvarial sutures.	http://purl.obolibrary.org/obo/HP_0011325		Sysnostosis of all cranial sutures
OBO:HP_0011326	Anterior plagiocephaly	biolink:OntologyClass	hp	SNOMEDCT_US:254020001|UMLS:C0432124|UMLS:C4023413|UMLS:C4280328|UMLS:C4280329|UMLS:C4280330	Asymmetry of the anterior part of the skull.	http://purl.obolibrary.org/obo/HP_0011326		Anterior flat head syndrome|Deformational frontal plagiocephaly|Frontal plagiocephaly|Deformational anterior plagiocephaly|Positional anterior plagiocephaly|Positional frontal plagiocephaly|Coronal synostosis|Unicoronal craniosynostosis
OBO:HP_0011327	Posterior plagiocephaly	biolink:OntologyClass	hp	UMLS:C4021160	Asymmetry of the posterior part of the skull.	http://purl.obolibrary.org/obo/HP_0011327		Deformational posterior plagiocephaly|Occipital plagiocephaly
OBO:HP_0011328	Abnormality of fontanelles	biolink:OntologyClass	hp	UMLS:C4020755	An abnormality of the fontanelle.	http://purl.obolibrary.org/obo/HP_0011328	hposlim_core	Anomaly of the fontanelles
OBO:HP_0011329	Abnormality of cranial sutures	biolink:OntologyClass	hp	UMLS:C4023412	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.	http://purl.obolibrary.org/obo/HP_0011329		Abnormality of cranial sutures|Abnormality of the bregma sutures|Abnormality of the calvarium sutures|Abnormality of the cranial sutures|Abnormality of the skull suture
OBO:HP_0011330	Metopic synostosis	biolink:OntologyClass	hp	MSH:C562951|MSH:D003398|SNOMEDCT_US:109409003|UMLS:C0432122|UMLS:C1860819	Premature fusion of the metopic suture.	http://purl.obolibrary.org/obo/HP_0011330	hposlim_core	Metopic craniosynostosis|Metopic suture craniosynostosis
OBO:HP_0011331	Hemifacial atrophy	biolink:OntologyClass	hp	MSH:D005150|SNOMEDCT_US:718224004|SNOMEDCT_US:95834000|UMLS:C0015458	Unilateral atrophy of facial tissues, including muscles, bones and skin.	http://purl.obolibrary.org/obo/HP_0011331	hposlim_core	Atrophy of half of face|Atrophy of one side of the face|Facial hemiatrophy
OBO:HP_0011332	Hemifacial hypoplasia	biolink:OntologyClass	hp	MSH:D006053|SNOMEDCT_US:254025006|UMLS:C3495417|UMLS:C4023411	Unilateral underdevelopment of the facial tissues, including muscles and bones.	http://purl.obolibrary.org/obo/HP_0011332		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
OBO:HP_0011333	Asymmetric crying face	biolink:OntologyClass	hp	MSH:C535349|SNOMEDCT_US:51409009|UMLS:C0431406|UMLS:C4280327	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.	http://purl.obolibrary.org/obo/HP_0011333		Asymmetric crying face|Partial unilateral facial paresis|Hypoplasia of depressor angula oris muscle
OBO:HP_0011334	Facial shape deformation	biolink:OntologyClass	hp	UMLS:C4021159		http://purl.obolibrary.org/obo/HP_0011334		Facial shape deformation|Distortion of facial shape|Facial shape compression
OBO:HP_0011335	Frontal hirsutism	biolink:OntologyClass	hp	UMLS:C1839830	Excessive amount of hair growth on forehead.	http://purl.obolibrary.org/obo/HP_0011335		Hairy forehead|Hirsute forehead
OBO:HP_0011336	Bitemporal forceps marks	biolink:OntologyClass	hp	UMLS:C4020754|UMLS:C4023409	Bilateral temporal scarlike defects, which are said to resemble forceps marks.	http://purl.obolibrary.org/obo/HP_0011336		Bitemporal aplasia cutis congenita|Congenital ectodermal dysplasia of the face|Congenital, bilateral, scarlike facial lesions|Focal facial dermal dysplasia|Temporal skin defect
OBO:HP_0011337	Abnormality of mouth size	biolink:OntologyClass	hp	UMLS:C4023408		http://purl.obolibrary.org/obo/HP_0011337		Abnormality of mouth size|Anomaly of mouth size
OBO:HP_0011338	Abnormality of mouth shape	biolink:OntologyClass	hp	Fyler:4874|UMLS:C4023407	An abnormality of the outline, configuration, or contour of the mouth.	http://purl.obolibrary.org/obo/HP_0011338		Abnormality of mouth shape|Anomaly of mouth shape|Unusual mouth shape
OBO:HP_0011339	Abnormality of upper lip vermillion	biolink:OntologyClass	hp	UMLS:C4023406	An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin.	http://purl.obolibrary.org/obo/HP_0011339		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
OBO:HP_0011340	Incomplete cleft of the upper lip	biolink:OntologyClass	hp	UMLS:C4021158	A subtle unilateral cleft of the upper lip, which may appear as a small indentation.	http://purl.obolibrary.org/obo/HP_0011340		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
OBO:HP_0011341	Long upper lip	biolink:OntologyClass	hp	UMLS:C3151495	Increased width of the upper lip.	http://purl.obolibrary.org/obo/HP_0011341		Elongation of upper lip|Increased height of upper lip|Increased vertical length of upper lip|Long upper lip
OBO:HP_0011342	Mild global developmental delay	biolink:OntologyClass	hp	UMLS:C2229182|UMLS:C4012968	A mild delay in the achievement of motor or mental milestones in the domains of development of a child.	http://purl.obolibrary.org/obo/HP_0011342		Global developmental delay, mild|Psychomotor retardation, mild
OBO:HP_0011343	Moderate global developmental delay	biolink:OntologyClass	hp	UMLS:C2237142	A moderate delay in the achievement of motor or mental milestones in the domains of development of a child.	http://purl.obolibrary.org/obo/HP_0011343		Global developmental delay, moderate|Psychomotor retardation, moderate
OBO:HP_0011344	Severe global developmental delay	biolink:OntologyClass	hp	UMLS:C1837397|UMLS:C1854919	A severe delay in the achievement of motor or mental milestones in the domains of development of a child.	http://purl.obolibrary.org/obo/HP_0011344		Global developmental delay, severe|Severe psychomotor retardation
OBO:HP_0011345	Moderate expressive language delay	biolink:OntologyClass	hp	SNOMEDCT_US:62211000119103|UMLS:C3532933	A moderate delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.	http://purl.obolibrary.org/obo/HP_0011345		
OBO:HP_0011346	Mild expressive language delay	biolink:OntologyClass	hp	SNOMEDCT_US:62231000119108|UMLS:C3532934	A mild delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.	http://purl.obolibrary.org/obo/HP_0011346		
OBO:HP_0011347	Abnormality of ocular abduction	biolink:OntologyClass	hp	UMLS:C4023405	An abnormality involving the movement of the eye outwards.	http://purl.obolibrary.org/obo/HP_0011347		
OBO:HP_0011348	Abnormality of the sixth cranial nerve	biolink:OntologyClass	hp	UMLS:C4023404	An abnormality of the abducens nerve.	http://purl.obolibrary.org/obo/HP_0011348		
OBO:HP_0011349	Abducens palsy	biolink:OntologyClass	hp	MSH:C564661|MSH:D020434|SNOMEDCT_US:398760006|SNOMEDCT_US:398925009|SNOMEDCT_US:398963001|UMLS:C0271355	Malfunction of the abducens nerve as manifested by impairment of the ability of the affected eye to be moved outward.	http://purl.obolibrary.org/obo/HP_0011349		Sixth nerve palsy
OBO:HP_0011350	Mild receptive language delay	biolink:OntologyClass	hp	SNOMEDCT_US:89501000119108|UMLS:C3532948	A mild delay in the acquisition of the ability to understand the speech of others.	http://purl.obolibrary.org/obo/HP_0011350		
OBO:HP_0011351	Moderate receptive language delay	biolink:OntologyClass	hp	SNOMEDCT_US:89381000119107|UMLS:C3532946	A moderate delay in the acquisition of the ability to understand the speech of others.	http://purl.obolibrary.org/obo/HP_0011351		
OBO:HP_0011352	Severe receptive language delay	biolink:OntologyClass	hp	SNOMEDCT_US:89391000119105|UMLS:C3532947	A severe delay in the acquisition of the ability to understand the speech of others.	http://purl.obolibrary.org/obo/HP_0011352		
OBO:HP_0011353	Arterial intimal fibrosis	biolink:OntologyClass	hp	UMLS:C4020753|UMLS:C4023403	Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries.	http://purl.obolibrary.org/obo/HP_0011353		Intimal fibrosis
OBO:HP_0011354	Generalized abnormality of skin	biolink:OntologyClass	hp	UMLS:C4021157	An abnormality of the skin that is not localized to any one particular region.	http://purl.obolibrary.org/obo/HP_0011354		Generalised abnormality of skin|Generalized abnormality of skin
OBO:HP_0011355	Localized skin lesion	biolink:OntologyClass	hp	UMLS:C0850826	A lesion of the skin that is located in a specific region rather than being generalized.	http://purl.obolibrary.org/obo/HP_0011355		Localized skin lesion|Localised skin lesion
OBO:HP_0011356	Regional abnormality of skin	biolink:OntologyClass	hp	UMLS:C4023402	An abnormality of the skin that is restricted to a particular body region.	http://purl.obolibrary.org/obo/HP_0011356		
OBO:HP_0011357	obsolete Abnormality of hair density	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0011357		
OBO:HP_0011358	Generalized hypopigmentation of hair	biolink:OntologyClass	hp	UMLS:C4023400	Reduced pigmentation of hair diffusely.	http://purl.obolibrary.org/obo/HP_0011358		Generalised hypopigmentation of hair
OBO:HP_0011359	Dry hair	biolink:OntologyClass	hp	SNOMEDCT_US:79395009|UMLS:C0277960	Hair that lacks the lustre (shine or gleam) of normal hair.	http://purl.obolibrary.org/obo/HP_0011359		Dry hair
OBO:HP_0011360	Acquired abnormal hair pattern	biolink:OntologyClass	hp	UMLS:C4023399	An abnormality of the distribution of hair growth that is acquired during the course of life.	http://purl.obolibrary.org/obo/HP_0011360		Acquired abnormal hair pattern
OBO:HP_0011361	Congenital abnormal hair pattern	biolink:OntologyClass	hp	UMLS:C4023398	A congenital abnormality of the distribution of hair growth.	http://purl.obolibrary.org/obo/HP_0011361		Abnormal hair pattern since birth
OBO:HP_0011362	Abnormal hair quantity	biolink:OntologyClass	hp	UMLS:C4023397|UMLS:C4023401	An abnormal amount of hair.	http://purl.obolibrary.org/obo/HP_0011362		Abnormal hair quantity|Abnormality of hair density
OBO:HP_0011363	Abnormality of hair growth rate	biolink:OntologyClass	hp	UMLS:C4023396	Hair whose growth rate deviates from the norm.	http://purl.obolibrary.org/obo/HP_0011363		Abnormality of hair growth rate|Abnormality of pace of hair growth|Abnormality of speed of hair growth
OBO:HP_0011364	White hair	biolink:OntologyClass	hp	SNOMEDCT_US:297993006|UMLS:C0239804	Hypopigmented hair that appears white.	http://purl.obolibrary.org/obo/HP_0011364		White hair
OBO:HP_0011365	Patchy hypopigmentation of hair	biolink:OntologyClass	hp	UMLS:C4023395	Reduced pigmentation of hair in patches.	http://purl.obolibrary.org/obo/HP_0011365		
OBO:HP_0011367	Yellow nails	biolink:OntologyClass	hp	SNOMEDCT_US:45342007|UMLS:C1768507	Yellowish discoloration of the nails.	http://purl.obolibrary.org/obo/HP_0011367		Yellow nails
OBO:HP_0011368	Epidermal thickening	biolink:OntologyClass	hp	UMLS:C0494876|UMLS:C4020752	Thickening of the epidermal layer of the skin.	http://purl.obolibrary.org/obo/HP_0011368		Abnormality of keratinization
OBO:HP_0011369	Mongolian blue spot	biolink:OntologyClass	hp	MSH:D049328|SNOMEDCT_US:40467008|UMLS:C0265985	Congenital deep dermal melanosis in the sacral area.	http://purl.obolibrary.org/obo/HP_0011369		
OBO:HP_0011370	Recurrent cutaneous fungal infections	biolink:OntologyClass	hp	UMLS:C4023394	Increased susceptibility to cutaneous fungal infections, as manifested by recurrent episodes of cutaneous fungal infections.	http://purl.obolibrary.org/obo/HP_0011370		
OBO:HP_0011371	Recurrent viral skin infections	biolink:OntologyClass	hp	UMLS:C4023393	Increased susceptibility to viral skin infections, as manifested by recurrent episodes of viral skin infections.	http://purl.obolibrary.org/obo/HP_0011371		Recurrent viral skin infections
OBO:HP_0011372	Aplasia of the inner ear	biolink:OntologyClass	hp	SNOMEDCT_US:71973003|UMLS:C0266604	Absence of the inner ear due to a developmental defect.	http://purl.obolibrary.org/obo/HP_0011372		Absent inner ear|Aplasia of the labyrinth|Labyrinthine aplasia|Michel deformity
OBO:HP_0011373	Incomplete partition of the cochlea	biolink:OntologyClass	hp	UMLS:C4023392	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.	http://purl.obolibrary.org/obo/HP_0011373		
OBO:HP_0011374	Incomplete partition of the cochlea type I	biolink:OntologyClass	hp	UMLS:C4023391	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.	http://purl.obolibrary.org/obo/HP_0011374		
OBO:HP_0011375	Cochlear aplasia	biolink:OntologyClass	hp	UMLS:C4023390	Absence of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect.	http://purl.obolibrary.org/obo/HP_0011375		Absent cochlea
OBO:HP_0011376	Morphological abnormality of the vestibule of the inner ear	biolink:OntologyClass	hp	UMLS:C0542259	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.	http://purl.obolibrary.org/obo/HP_0011376		Vestibular abnormality
OBO:HP_0011377	Aplasia of the vestibule	biolink:OntologyClass	hp	UMLS:C4023389	Complete absence of the vestibule of the inner ear.	http://purl.obolibrary.org/obo/HP_0011377		Absent vestibule
OBO:HP_0011378	Hypoplasia of the vestibule of the inner ear	biolink:OntologyClass	hp	UMLS:C4023388	Underdevelopment of the vestibule of the inner ear.	http://purl.obolibrary.org/obo/HP_0011378		
OBO:HP_0011379	Dilated vestibule of the inner ear	biolink:OntologyClass	hp	UMLS:C4023387	Dilatation of the vestibule of the inner ear.	http://purl.obolibrary.org/obo/HP_0011379		
OBO:HP_0011380	Morphological abnormality of the semicircular canal	biolink:OntologyClass	hp	UMLS:C4023386	An abnormality of the morphology of the semicircular canal.	http://purl.obolibrary.org/obo/HP_0011380		
OBO:HP_0011381	Aplasia of the semicircular canal	biolink:OntologyClass	hp	UMLS:C4023385	Absence of the semicircular canal.	http://purl.obolibrary.org/obo/HP_0011381		Absent semicircular canal
OBO:HP_0011382	Hypoplasia of the semicircular canal	biolink:OntologyClass	hp	UMLS:C3552156	Underdevelopment of the semicircular canal.	http://purl.obolibrary.org/obo/HP_0011382		Small semicircular canal|Hypoplasia of the semicircular canals
OBO:HP_0011383	Enlarged semicircular canal	biolink:OntologyClass	hp	UMLS:C4021156	Increased size of the semicircular canal.	http://purl.obolibrary.org/obo/HP_0011383		Dilated semicircular canal
OBO:HP_0011384	Abnormality of the internal auditory canal	biolink:OntologyClass	hp	UMLS:C4021155	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.	http://purl.obolibrary.org/obo/HP_0011384		Abnormality of the internal acoustic meatus
OBO:HP_0011385	Absent internal auditory canal	biolink:OntologyClass	hp	UMLS:C4023384	Aplasia of the internal auditory canal.	http://purl.obolibrary.org/obo/HP_0011385		
OBO:HP_0011386	Narrow internal auditory canal	biolink:OntologyClass	hp	UMLS:C4023383	Reduction in diameter of the internal auditory canal.	http://purl.obolibrary.org/obo/HP_0011386		
OBO:HP_0011387	Enlarged vestibular aqueduct	biolink:OntologyClass	hp	MSH:C566366|UMLS:C1863752	Increased size of the vestibular aqueduct.	http://purl.obolibrary.org/obo/HP_0011387		Dilated vestibular aqueduct|Widened vestibular aqueduct
OBO:HP_0011388	Enlarged cochlear aqueduct	biolink:OntologyClass	hp	UMLS:C4021154	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.	http://purl.obolibrary.org/obo/HP_0011388		Dilated cochlear aqueduct
OBO:HP_0011389	Functional abnormality of the inner ear	biolink:OntologyClass	hp	UMLS:C4023382	An abnormality of the function of the inner ear.	http://purl.obolibrary.org/obo/HP_0011389		Functional abnormality of the inner ear
OBO:HP_0011390	Morphological abnormality of the inner ear	biolink:OntologyClass	hp	UMLS:C4023381	A structural anomaly of the internal part of the ear.	http://purl.obolibrary.org/obo/HP_0011390		
OBO:HP_0011391	Morphological abnormality of the nerves of the inner ear	biolink:OntologyClass	hp	UMLS:C4023380		http://purl.obolibrary.org/obo/HP_0011391		
OBO:HP_0011392	Abnormality of the vestibular nerve	biolink:OntologyClass	hp	UMLS:C4023379		http://purl.obolibrary.org/obo/HP_0011392		
OBO:HP_0011393	Aplasia of the vestibular nerve.	biolink:OntologyClass	hp	UMLS:C4020751|UMLS:C4021153	Absence of the vestibular nerve	http://purl.obolibrary.org/obo/HP_0011393		Absent cranial nerve viii|Absent the eighth cranial nerve|Absent vestribular nerve|Aplasia of the eighth cranial nerve|Aplasia of cranial nerve VIII
OBO:HP_0011394	Hypoplasia of the vestibular nerve	biolink:OntologyClass	hp	UMLS:C4020750	Underdevelopment of the vestibular nerve.	http://purl.obolibrary.org/obo/HP_0011394		Hypoplasia of the eighth cranial nerve|Thin vestibular nerve|Hypoplasia of cranial nerve VIII
OBO:HP_0011395	Aplasia/Hypoplasia of the cochlea	biolink:OntologyClass	hp	UMLS:C4023378	Absence or underdevelopment of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect.	http://purl.obolibrary.org/obo/HP_0011395		Absent/small cochlea|Absent/underdeveloped cochlea
OBO:HP_0011396	Abnormality of the cochlear nerve	biolink:OntologyClass	hp	UMLS:C4023377		http://purl.obolibrary.org/obo/HP_0011396		
OBO:HP_0011397	Abnormality of the dorsal column of the spinal cord	biolink:OntologyClass	hp	UMLS:C4023376	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.	http://purl.obolibrary.org/obo/HP_0011397		
OBO:HP_0011398	obsolete Central hypotonia	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0011398		
OBO:HP_0011399	Tibialis atrophy	biolink:OntologyClass	hp	UMLS:C4023375	Atrophy of the tibialis muscle.	http://purl.obolibrary.org/obo/HP_0011399		Tibialis muscle degeneration
OBO:HP_0011400	Abnormal CNS myelination	biolink:OntologyClass	hp	UMLS:C4021152	An abnormality of myelination of nerves in the central nervous system.	http://purl.obolibrary.org/obo/HP_0011400		Abnormal formation of myelin sheaths
OBO:HP_0011401	Delayed peripheral myelination	biolink:OntologyClass	hp	UMLS:C4023374	Delayed myelination in the peripheral nervous system.	http://purl.obolibrary.org/obo/HP_0011401		
OBO:HP_0011402	Demyelinating sensory neuropathy	biolink:OntologyClass	hp	UMLS:C4023373	Demyelination of peripheral sensory nerves.	http://purl.obolibrary.org/obo/HP_0011402		
OBO:HP_0011403	Abnormal umbilical cord blood vessels	biolink:OntologyClass	hp	UMLS:C4023372		http://purl.obolibrary.org/obo/HP_0011403		
OBO:HP_0011404	Lethal short-trunk short stature	biolink:OntologyClass	hp	UMLS:C4021151	A type of disproportionate short stature characterized by a short trunk but a average-sized limbs that is lethal at birth.	http://purl.obolibrary.org/obo/HP_0011404		Lethal short-trunk dwarfism
OBO:HP_0011405	Childhood onset short-limb short stature	biolink:OntologyClass	hp	UMLS:C1867487		http://purl.obolibrary.org/obo/HP_0011405		Short-limb dwarfism identifiable during childhood
OBO:HP_0011406	Infancy onset short-trunk short stature	biolink:OntologyClass	hp	UMLS:C1846061	A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in infancy.	http://purl.obolibrary.org/obo/HP_0011406		Short-trunk dwarfism, identifiable in infancy
OBO:HP_0011407	Proportionate tall stature	biolink:OntologyClass	hp	UMLS:C4023371		http://purl.obolibrary.org/obo/HP_0011407		
OBO:HP_0011408	Moderate intrauterine growth retardation	biolink:OntologyClass	hp	UMLS:C4023370	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.	http://purl.obolibrary.org/obo/HP_0011408		
OBO:HP_0011409	Abnormal placental membrane morphology	biolink:OntologyClass	hp	UMLS:C4023369	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.	http://purl.obolibrary.org/obo/HP_0011409		Abnormality of placental membranes
OBO:HP_0011410	Caesarian section	biolink:OntologyClass	hp	SNOMEDCT_US:200144004|UMLS:C1384674	Delivery of a fetus through surgical incisions made through the abdominal wall (laparotomy) and the uterine wall (hysterotomy).	http://purl.obolibrary.org/obo/HP_0011410		Caesarian section
OBO:HP_0011411	Forceps delivery	biolink:OntologyClass	hp	UMLS:C0341808		http://purl.obolibrary.org/obo/HP_0011411		Forceps delivery
OBO:HP_0011412	Ventouse delivery	biolink:OntologyClass	hp	MSH:D014620|SNOMEDCT_US:10761101000119105|SNOMEDCT_US:61586001|UMLS:C0042225|UMLS:C1456852|UMLS:C2825567	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.	http://purl.obolibrary.org/obo/HP_0011412		Vacuum extraction|Vacuum-assisted vaginal delivery
OBO:HP_0011413	Shoulder dystocia	biolink:OntologyClass	hp	SNOMEDCT_US:89700002|UMLS:C0269825	Shoulder dystocia occurs when the fetal anterior shoulder impacts against the maternal symphysis following delivery of the vertex.	http://purl.obolibrary.org/obo/HP_0011413		
OBO:HP_0011414	Hydropic placenta	biolink:OntologyClass	hp	SNOMEDCT_US:75094005|UMLS:C0270254	An abnormality of the placenta in which there are numerous cystic spaces within the placenta as well as placental enlargement.	http://purl.obolibrary.org/obo/HP_0011414		Hydrops of the placenta
OBO:HP_0011415	Calcified placenta	biolink:OntologyClass	hp	SNOMEDCT_US:249174002|UMLS:C0426234		http://purl.obolibrary.org/obo/HP_0011415		
OBO:HP_0011416	Placental infarction	biolink:OntologyClass	hp	SNOMEDCT_US:268585006|UMLS:C0554393		http://purl.obolibrary.org/obo/HP_0011416		Placental thromboembolism
OBO:HP_0011417	Long umbilical cord	biolink:OntologyClass	hp	SNOMEDCT_US:237261008|UMLS:C0405028	Increased length of the umbilical cord.	http://purl.obolibrary.org/obo/HP_0011417		Long umbilical cord
OBO:HP_0011418	Abnormal insertion of umbilical cord	biolink:OntologyClass	hp	MSH:D055949|SNOMEDCT_US:79668009|UMLS:C0269852		http://purl.obolibrary.org/obo/HP_0011418		Vasa previa
OBO:HP_0011419	Placental abruption	biolink:OntologyClass	hp	MSH:D000037|SNOMEDCT_US:405736009|SNOMEDCT_US:415105001|UMLS:C0000832	Separation of the placenta from the uterus wall before delivery.	http://purl.obolibrary.org/obo/HP_0011419		Abruptio placentae
OBO:HP_0011420	Age of death	biolink:OntologyClass	hp	UMLS:C1546180	The age group when the cessation of life happens.	http://purl.obolibrary.org/obo/HP_0011420		
OBO:HP_0011421	Death in adolescence	biolink:OntologyClass	hp	UMLS:C4023368	Death during adolescence, the period between childhood and adulthood (roughly between the ages of 10 and 19 years).	http://purl.obolibrary.org/obo/HP_0011421		Death in adolescence
OBO:HP_0011422	Abnormal blood chloride concentration	biolink:OntologyClass	hp	UMLS:C4023367	An abnormality of chloride homeostasis or concentration in the body.	http://purl.obolibrary.org/obo/HP_0011422		Abnormal blood Cl concentration|Abnormal blood Cl- concentration|Abnormality of chloride homeostasis
OBO:HP_0011423	Hyperchloremia	biolink:OntologyClass	hp	SNOMEDCT_US:74450001|UMLS:C0085679	An abnormally increased chloride concentration in the blood.	http://purl.obolibrary.org/obo/HP_0011423		
OBO:HP_0011424	Increased serum zinc	biolink:OntologyClass	hp	UMLS:C0854520|UMLS:C0856208	An increased consentration of zinc in the blood.	http://purl.obolibrary.org/obo/HP_0011424		Hyperzincemia
OBO:HP_0011425	Fetal ultrasound soft marker	biolink:OntologyClass	hp	UMLS:C4023366	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.	http://purl.obolibrary.org/obo/HP_0011425		Foetal ultrasound soft marker
OBO:HP_0011426	Fetal choroid plexus cysts	biolink:OntologyClass	hp	SNOMEDCT_US:462165005|UMLS:C3532166	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).	http://purl.obolibrary.org/obo/HP_0011426		Foetal choroid plexus cysts
OBO:HP_0011427	Enlarged fetal cisterna magna	biolink:OntologyClass	hp	UMLS:C4023365	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).	http://purl.obolibrary.org/obo/HP_0011427		Enlarged foetal cisterna magna
OBO:HP_0011428	Short fetal femur length	biolink:OntologyClass	hp	UMLS:C0743924	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).	http://purl.obolibrary.org/obo/HP_0011428		Short fetal thigh bone length|Short foetal femur length
OBO:HP_0011429	Short fetal humerus length	biolink:OntologyClass	hp	UMLS:C4023364	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).	http://purl.obolibrary.org/obo/HP_0011429		Short fetal long bone in upper arm length|Short foetal humerus length
OBO:HP_0011430	Hypoplasia of fetal nasal bone	biolink:OntologyClass	hp	UMLS:C4023363	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).	http://purl.obolibrary.org/obo/HP_0011430		Underdeveloped fetal nose bone|Hypoplasia of foetal nasal bone
OBO:HP_0011431	Fetal fifth finger clinodactyly	biolink:OntologyClass	hp	UMLS:C4023362|UMLS:C4280326	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).	http://purl.obolibrary.org/obo/HP_0011431		Fetal little finger curvature|Fetal pinkie finger curvature|Fetal pinky finger curvature|Foetal fifth finger clinodactyly
OBO:HP_0011432	High maternal serum alpha-fetoprotein	biolink:OntologyClass	hp	UMLS:C4023361	An abnormally high concentration of serum alpha-fetoprotein as compared to normal values for gestational-age.	http://purl.obolibrary.org/obo/HP_0011432		
OBO:HP_0011433	High maternal serum chorionic gonadotropin	biolink:OntologyClass	hp	UMLS:C4021150	An abnormally high concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age.	http://purl.obolibrary.org/obo/HP_0011433		High maternal serum hCG
OBO:HP_0011434	Low maternal serum chorionic gonadotropin	biolink:OntologyClass	hp	UMLS:C4021149	An abnormally low concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age.	http://purl.obolibrary.org/obo/HP_0011434		Low maternal serum hCG
OBO:HP_0011435	Low maternal serum PAPP-A	biolink:OntologyClass	hp	UMLS:C4023360	An abnormally low concentration of serum PAPP-A (pregnancy associated plasma protein A), as compared to normal values for gestational-age.	http://purl.obolibrary.org/obo/HP_0011435		
OBO:HP_0011436	Abnormal maternal serum screening	biolink:OntologyClass	hp	UMLS:C4023359	An abnormally elevated or decreased level of a maternal serum marker analytes used in screening for aneuploidy.	http://purl.obolibrary.org/obo/HP_0011436		
OBO:HP_0011437	Maternal autoimmune disease	biolink:OntologyClass	hp	UMLS:C4023358	A medical history of a fetus or child born to a mother with an autoimmune disease.	http://purl.obolibrary.org/obo/HP_0011437		
OBO:HP_0011438	Maternal teratogenic exposure	biolink:OntologyClass	hp	UMLS:C4023357	A medical history of exposure of the mother of a child or fetus to a teratogenic substance during pregnancy.	http://purl.obolibrary.org/obo/HP_0011438		
OBO:HP_0011439	Anesthetic-induced rhabdomylosis	biolink:OntologyClass	hp	UMLS:C4023356	Rhabdomyolysis induced by anesthesia.	http://purl.obolibrary.org/obo/HP_0011439		
OBO:HP_0011440	Alcohol-induced rhabdomyolysis	biolink:OntologyClass	hp	UMLS:C4023355	Rhabdomyolysis induced by intake of alcohol.	http://purl.obolibrary.org/obo/HP_0011440		
OBO:HP_0011441	Abnormality of the medulla oblongata	biolink:OntologyClass	hp	UMLS:C4021148	An abnormality of the medulla oblongata, the lower half of the brainstem.	http://purl.obolibrary.org/obo/HP_0011441		Abnormality of the myencephalon
OBO:HP_0011442	Abnormal central motor function	biolink:OntologyClass	hp	UMLS:C4023354	An anomaly of the control or production of movement in the central nervous system.	http://purl.obolibrary.org/obo/HP_0011442		Abnormality of central motor function
OBO:HP_0011443	Abnormality of coordination	biolink:OntologyClass	hp	UMLS:C4023353		http://purl.obolibrary.org/obo/HP_0011443		Abnormality of coordination|Coordination issue
OBO:HP_0011444	Decorticate rigidity	biolink:OntologyClass	hp	MSH:D003655|SNOMEDCT_US:36423000|UMLS:C0231521	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.	http://purl.obolibrary.org/obo/HP_0011444		
OBO:HP_0011445	Athetoid cerebral palsy	biolink:OntologyClass	hp	MSH:D002547|SNOMEDCT_US:230780007|SNOMEDCT_US:75019001|UMLS:C0270742	A type of cerebral palsy characterized by slow, involuntary muscle movement and mixed muscle tone.	http://purl.obolibrary.org/obo/HP_0011445		Dyskinetic cerebral palsy
OBO:HP_0011446	Abnormality of higher mental function	biolink:OntologyClass	hp	UMLS:C4023352	Cognitive, psychiatric or memory anomaly.	http://purl.obolibrary.org/obo/HP_0011446		
OBO:HP_0011447	Hyposegmentation of neutrophil nuclei	biolink:OntologyClass	hp	MSH:D010381|SNOMEDCT_US:85559002|UMLS:C0030779|UMLS:C4023351	Hyposegmented (hypolobulated) or bilobed neutrophil nuclei.	http://purl.obolibrary.org/obo/HP_0011447		Hyposegmentation of neutrophil nuclei in peripheral blood|Pelger-Huet anomaly
OBO:HP_0011448	Ankle clonus	biolink:OntologyClass	hp	SNOMEDCT_US:39055007|UMLS:C0238651	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.	http://purl.obolibrary.org/obo/HP_0011448		Abnormal rhythmic movements of ankle
OBO:HP_0011449	Knee clonus	biolink:OntologyClass	hp	SNOMEDCT_US:54360005|UMLS:C0520823	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.	http://purl.obolibrary.org/obo/HP_0011449		Patellar clonus
OBO:HP_0011450	Unusual CNS infection	biolink:OntologyClass	hp	MSH:D002494|SNOMEDCT_US:128117002|UMLS:C0007684	A type of infection of the central nervous system that can be regarded as a sign of a pathological susceptibility to infection.	http://purl.obolibrary.org/obo/HP_0011450		Central nervous system infection
OBO:HP_0011451	Congenital microcephaly	biolink:OntologyClass	hp	UMLS:C2677180|UMLS:C4020749	Head circumference below 2 standard deviations below the mean for age and gender at birth.	http://purl.obolibrary.org/obo/HP_0011451		Small head present at birth|Congenital small head|Congenital small head circumference|Small head circumference present at birth|Small skull present at birth|Congenital decreased head circumference|Congenital small skull|Decreased head circumference present at birth|Microcephaly present at birth|Small cranium present at birth|Head circumference small for gestational age
OBO:HP_0011452	Functional abnormality of the middle ear	biolink:OntologyClass	hp	UMLS:C4021846	An abnormality of the function of the middle ear.	http://purl.obolibrary.org/obo/HP_0011452		Functional abnormality of the middle ear
OBO:HP_0011453	Abnormality of the incus	biolink:OntologyClass	hp	UMLS:C4023350	An abnormality of the incus, an ossicle in the middle ear.	http://purl.obolibrary.org/obo/HP_0011453		
OBO:HP_0011454	Abnormality of the malleus	biolink:OntologyClass	hp	UMLS:C4023349	An abnormality of the malleus, an ossicle in the middle ear.	http://purl.obolibrary.org/obo/HP_0011454		
OBO:HP_0011455	Absent malleus	biolink:OntologyClass	hp	SNOMEDCT_US:300169003|UMLS:C0576900	Aplasia of the malleus.	http://purl.obolibrary.org/obo/HP_0011455		
OBO:HP_0011456	Absent stapes	biolink:OntologyClass	hp	SNOMEDCT_US:300178009|UMLS:C0576909	Aplasia of the stapes.	http://purl.obolibrary.org/obo/HP_0011456		
OBO:HP_0011457	Loss of eyelashes	biolink:OntologyClass	hp	SNOMEDCT_US:34887006|UMLS:C0271321	This term refers to the loss of eyelashes that were previously present.	http://purl.obolibrary.org/obo/HP_0011457		Eyelashes fell out|Loss of eyelashes|Missing eyelashes|Ciliary Madarosis|Milphosis
OBO:HP_0011458	Abdominal symptom	biolink:OntologyClass	hp	UMLS:C0740651	A subjective manifestation of disease localized to the abdomen.	http://purl.obolibrary.org/obo/HP_0011458		
OBO:HP_0011459	Esophageal carcinoma	biolink:OntologyClass	hp	SNOMEDCT_US:372138000|UMLS:C0152018	The presence of a carcinoma of the esophagus.	http://purl.obolibrary.org/obo/HP_0011459		
OBO:HP_0011460	Embryonal onset	biolink:OntologyClass	hp	UMLS:C4023348	Onset of disease at up to 8 weeks following fertilization (corresponding to 10 weeks of gestation).	http://purl.obolibrary.org/obo/HP_0011460		
OBO:HP_0011461	Fetal onset	biolink:OntologyClass	hp	UMLS:C4023347	Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks).	http://purl.obolibrary.org/obo/HP_0011461		Foetal onset
OBO:HP_0011462	Young adult onset	biolink:OntologyClass	hp	UMLS:C3554568	Onset of disease at the age of between 16 and 40 years.	http://purl.obolibrary.org/obo/HP_0011462		
OBO:HP_0011463	Childhood onset	biolink:OntologyClass	hp	UMLS:C1837352	Onset of disease at the age of between 1 and 5 years.	http://purl.obolibrary.org/obo/HP_0011463		Symptoms begin in childhood
OBO:HP_0011464	Aganglionosis of the small intestine	biolink:OntologyClass	hp	UMLS:C4023346	A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the small intestine.	http://purl.obolibrary.org/obo/HP_0011464		
OBO:HP_0011465	Duodenal aganglionosis	biolink:OntologyClass	hp	UMLS:C4023345	A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the duodenum.	http://purl.obolibrary.org/obo/HP_0011465		
OBO:HP_0011466	Aplasia/Hypoplasia of the gallbladder	biolink:OntologyClass	hp	UMLS:C4023344	Absence or underdevelopment of the gallbladder.	http://purl.obolibrary.org/obo/HP_0011466		Absent/small gallbladder|Absent/underdeveloped gallbladder
OBO:HP_0011467	Absent gallbladder	biolink:OntologyClass	hp	MSH:C562564|SNOMEDCT_US:86507001|UMLS:C0266251	A developmental defect in which the gallbladder fails to form.	http://purl.obolibrary.org/obo/HP_0011467		Absent gallbladder|Agenesis of the gallbladder|Aplasia of the gallbladder
OBO:HP_0011468	Facial tics	biolink:OntologyClass	hp	SNOMEDCT_US:230335009|SNOMEDCT_US:32402008|UMLS:C0278151|UMLS:C0338467|UMLS:C0858722|UMLS:C4280324|UMLS:C4280325	Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face.	http://purl.obolibrary.org/obo/HP_0011468		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
OBO:HP_0011469	Nasal regurgitation	biolink:OntologyClass	hp	SNOMEDCT_US:85023004|UMLS:C0232608	Regurgitation of milk through the nose.	http://purl.obolibrary.org/obo/HP_0011469		
OBO:HP_0011470	Nasogastric tube feeding in infancy	biolink:OntologyClass	hp	UMLS:C4023343	Feeding problem necessitating nasogastric tube feeding.	http://purl.obolibrary.org/obo/HP_0011470		
OBO:HP_0011471	Gastrostomy tube feeding in infancy	biolink:OntologyClass	hp	UMLS:C4020748|UMLS:C4023342	Feeding problem necessitating gastrostomy tube feeding.	http://purl.obolibrary.org/obo/HP_0011471		PEG-fed in infancy
OBO:HP_0011472	Abnormality of small intestinal villus morphology	biolink:OntologyClass	hp	UMLS:C4023341		http://purl.obolibrary.org/obo/HP_0011472		Abnormal shape of small intestinal villus
OBO:HP_0011473	Villous atrophy	biolink:OntologyClass	hp	SNOMEDCT_US:275403002|SNOMEDCT_US:75581001|UMLS:C0267456|UMLS:C0554101|UMLS:C1833058|UMLS:C1859541|UMLS:C2677378|UMLS:C4020747	The enteric villi are atrophic or absent.	http://purl.obolibrary.org/obo/HP_0011473	hposlim_core	Atrophy of small intestinal villi|Villous degeneration|Biopsy shows villous atrophy|Duodenal villous atrophy|Small intestine biopsy shows villous atrophy|Variable degree of villous atrophy
OBO:HP_0011474	Childhood onset sensorineural hearing impairment	biolink:OntologyClass	hp	UMLS:C4023340	Sensorineural hearing impairment with childhood onset.	http://purl.obolibrary.org/obo/HP_0011474		
OBO:HP_0011475	Persistent stapedial artery	biolink:OntologyClass	hp	UMLS:C4023339	Persistence of the stapedial artery, which normally regresses during embryonic life.	http://purl.obolibrary.org/obo/HP_0011475		
OBO:HP_0011476	Profound sensorineural hearing impairment	biolink:OntologyClass	hp	UMLS:C4023338	Complete loss of hearing related to a sensorineural defect.	http://purl.obolibrary.org/obo/HP_0011476		
OBO:HP_0011477	Upbeat nystagmus	biolink:OntologyClass	hp	SNOMEDCT_US:307677002|UMLS:C0585545	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.	http://purl.obolibrary.org/obo/HP_0011477		
OBO:HP_0011478	True anophthalmia	biolink:OntologyClass	hp	UMLS:C2675590	Absence of globe, optic nerve, chiasm and optic tracts. No evidence of ocular tissue on MRI scan or examination.	http://purl.obolibrary.org/obo/HP_0011478		Completely missing eyeball|Complete anophthalmia|Total anophthalmia
OBO:HP_0011479	Abnormal lacrimal punctum morphology	biolink:OntologyClass	hp	UMLS:C4023337	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.	http://purl.obolibrary.org/obo/HP_0011479		Abnormality of the lacrimal punctum
OBO:HP_0011480	Unilateral microphthalmos	biolink:OntologyClass	hp	UMLS:C3640024|UMLS:C4280323	A developmental anomaly characterized by abnormal smallness of one eye.	http://purl.obolibrary.org/obo/HP_0011480		Abnormally small eyeball on one side|Unilateral nanophthalmos
OBO:HP_0011481	Abnormal lacrimal duct morphology	biolink:OntologyClass	hp	UMLS:C1858567	An abnormality of the lacrimal duct, a duct that drain tears from the conjunctiva, via the lacrimal puncta, into the lacrimal sac.	http://purl.obolibrary.org/obo/HP_0011481		Abnormality of the lacrimal canaliculus|Abnormality of the lacrimal duct
OBO:HP_0011482	Abnormal lacrimal gland morphology	biolink:OntologyClass	hp	UMLS:C4023336	Abnormality of the lacrimal gland, i.e., of the almond-shaped gland that secretes the aqueous layer of the tear film for each eye.	http://purl.obolibrary.org/obo/HP_0011482		Abnormality of the lacrimal gland
OBO:HP_0011483	Anterior synechiae of the anterior chamber	biolink:OntologyClass	hp	SNOMEDCT_US:70992005|UMLS:C0152252	Adhesions between the iris and the cornea.	http://purl.obolibrary.org/obo/HP_0011483		Anterior synechiae|Cornea-iris adhesion|Iridocorneal synechia
OBO:HP_0011484	Posterior synechiae of the anterior chamber	biolink:OntologyClass	hp	SNOMEDCT_US:111512005|UMLS:C0152253	Adhesions between the iris and the lens.	http://purl.obolibrary.org/obo/HP_0011484		Iridolenticular adhesions|Posterior synechiae
OBO:HP_0011485	Corneolenticular adhesion	biolink:OntologyClass	hp	UMLS:C4023334	Developmental abnormality in which the lens and cornea are not separated.	http://purl.obolibrary.org/obo/HP_0011485		
OBO:HP_0011486	Abnormality of corneal thickness	biolink:OntologyClass	hp	UMLS:C4023333	An abnormal anteroposterior thickness of the cornea.	http://purl.obolibrary.org/obo/HP_0011486		
OBO:HP_0011487	Increased corneal thickness	biolink:OntologyClass	hp	UMLS:C3810451	A increased anteroposterior thickness of the cornea.	http://purl.obolibrary.org/obo/HP_0011487		
OBO:HP_0011488	Abnormal corneal endothelium morphology	biolink:OntologyClass	hp	UMLS:C4023332	Abnormality of the corneal endothelium, that is, the single layer of cells on the inner surface of the cornea.	http://purl.obolibrary.org/obo/HP_0011488		Abnormality of corneal endothelium
OBO:HP_0011489	Abnormal migration of corneal endothelium	biolink:OntologyClass	hp	UMLS:C4023331	Abnormal migration of corneal endothelium.	http://purl.obolibrary.org/obo/HP_0011489		
OBO:HP_0011490	Abnormal Descemet membrane morphology	biolink:OntologyClass	hp	UMLS:C4023330	Abnormality of Descemet's membrane, which is the basement membrane of the corneal endothelium.	http://purl.obolibrary.org/obo/HP_0011490		Abnormality of Descemet's membrane
OBO:HP_0011491	Reduced number of corneal endothelial cells	biolink:OntologyClass	hp	UMLS:C4023329	A reduction in the number of corneal endothelial cells.	http://purl.obolibrary.org/obo/HP_0011491		
OBO:HP_0011492	Abnormality of corneal stroma	biolink:OntologyClass	hp	UMLS:C4023328	An abnormality of the stroma of cornea, also known as the substantia propria of cornea.	http://purl.obolibrary.org/obo/HP_0011492		
OBO:HP_0011493	Central opacification of the cornea	biolink:OntologyClass	hp	UMLS:C4023327	Reduced transparency of the central portion of the corneal stroma.	http://purl.obolibrary.org/obo/HP_0011493		
OBO:HP_0011494	Generalized opacification of the cornea	biolink:OntologyClass	hp	UMLS:C4021147	Generalized reduced transparency of the stroma of the cornea.	http://purl.obolibrary.org/obo/HP_0011494		Generalised opacification of the cornea
OBO:HP_0011495	Abnormal corneal epithelium morphology	biolink:OntologyClass	hp	UMLS:C4023326	Abnormality of the corneal epithelium, that is of the epithelial tissue that covers the front of the cornea.	http://purl.obolibrary.org/obo/HP_0011495		Abnormality of corneal epithelium
OBO:HP_0011496	Corneal neovascularization	biolink:OntologyClass	hp	MSH:D016510|SNOMEDCT_US:19161004|UMLS:C0085109	Ingrowth of new blood vessels into the cornea.	http://purl.obolibrary.org/obo/HP_0011496		New blood vessel formation in cornea|Corneal neovascularisation|Corneal vascularization|Limbal neovascularization
OBO:HP_0011497	Iris neovascularization	biolink:OntologyClass	hp	SNOMEDCT_US:51995000|UMLS:C0154916	New growth of vessels on the surface of the iris.	http://purl.obolibrary.org/obo/HP_0011497		New blood vessel formation in iris|Neovascularization of the iris
OBO:HP_0011498	obsolete Partial aniridia	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0011498		
OBO:HP_0011499	Mydriasis	biolink:OntologyClass	hp	MSH:D015878|SNOMEDCT_US:37125009|UMLS:C0026961	Abnormal dilatation of the iris.	http://purl.obolibrary.org/obo/HP_0011499	hposlim_core	Dilated pupil
OBO:HP_0011500	Polycoria	biolink:OntologyClass	hp	SNOMEDCT_US:204159004|UMLS:C0344544	Multiple pupils.	http://purl.obolibrary.org/obo/HP_0011500		Multiple pupils
OBO:HP_0011501	Anterior lenticonus	biolink:OntologyClass	hp	SNOMEDCT_US:95480008|UMLS:C0344262	A conical projection of the anterior surface of the lens, occurring as a developmental anomaly.	http://purl.obolibrary.org/obo/HP_0011501		
OBO:HP_0011502	Posterior lenticonus	biolink:OntologyClass	hp	SNOMEDCT_US:95482000|UMLS:C0344263	A conical projection of the posterior surface of the lens, occurring as a developmental anomaly.	http://purl.obolibrary.org/obo/HP_0011502		
OBO:HP_0011503	Aplasia of the fovea	biolink:OntologyClass	hp	UMLS:C4023324	Congenital absence of the fovea.	http://purl.obolibrary.org/obo/HP_0011503		Absent fovea
OBO:HP_0011504	Bull's eye maculopathy	biolink:OntologyClass	hp	MSH:C537833|SNOMEDCT_US:312958000|SNOMEDCT_US:424169002|UMLS:C0730330|UMLS:C1828210	Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation.	http://purl.obolibrary.org/obo/HP_0011504		Chloroquine retinopathy
OBO:HP_0011505	Cystoid macular edema	biolink:OntologyClass	hp	MSH:D008269|SNOMEDCT_US:193387007|UMLS:C0024440	Cystoid macular edema (CME) is any type of macular edema that involves cyst formation.	http://purl.obolibrary.org/obo/HP_0011505		Cystoid macular oedema
OBO:HP_0011506	Choroidal neovascularization	biolink:OntologyClass	hp	UMLS:C4023323	Choroidal neovascularization (CNV) is the creation of new blood vessels in the choroid layer of the eye.	http://purl.obolibrary.org/obo/HP_0011506		
OBO:HP_0011507	Macular flecks	biolink:OntologyClass	hp	UMLS:C4023322	Pale often indistinct lesions of the macula.	http://purl.obolibrary.org/obo/HP_0011507		
OBO:HP_0011508	Macular hole	biolink:OntologyClass	hp	MSH:D012167|SNOMEDCT_US:232006002|UMLS:C0024441	A macular hole is a small break in the macula, located in the center of the retina.	http://purl.obolibrary.org/obo/HP_0011508		
OBO:HP_0011509	Macular hyperpigmentation	biolink:OntologyClass	hp	UMLS:C0745109	Increased amount of pigmentation in the macula lutea.	http://purl.obolibrary.org/obo/HP_0011509		
OBO:HP_0011510	Drusen	biolink:OntologyClass	hp	SNOMEDCT_US:18695008|UMLS:C1260959	Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye.	http://purl.obolibrary.org/obo/HP_0011510		
OBO:HP_0011511	Macular schisis	biolink:OntologyClass	hp	UMLS:C4023321	Splitting of the retina in the macular region.	http://purl.obolibrary.org/obo/HP_0011511		
OBO:HP_0011512	Hyperpigmentation of the fundus	biolink:OntologyClass	hp	UMLS:C4021146	Increased pigmentation of the fundus	http://purl.obolibrary.org/obo/HP_0011512		Hyperpigmented fundi|Hyperpigmented fundus
OBO:HP_0011513	Retinal cavernous angioma	biolink:OntologyClass	hp	SNOMEDCT_US:312937006|UMLS:C0730304	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.	http://purl.obolibrary.org/obo/HP_0011513		
OBO:HP_0011514	Abnormality of binocular vision	biolink:OntologyClass	hp	UMLS:C4023320	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.	http://purl.obolibrary.org/obo/HP_0011514		
OBO:HP_0011515	Abnormal stereopsis	biolink:OntologyClass	hp	UMLS:C4023319	Inability to make fine depth discriminations from parallax provided by the two eyes' different positions on the head.	http://purl.obolibrary.org/obo/HP_0011515		
OBO:HP_0011516	Achromatopsia	biolink:OntologyClass	hp	MSH:C536021|SNOMEDCT_US:102450007|UMLS:C0302129	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.	http://purl.obolibrary.org/obo/HP_0011516		Rod monochromacy|Rod monochromatism
OBO:HP_0011517	Cone monochromacy	biolink:OntologyClass	hp	UMLS:C4023318	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.	http://purl.obolibrary.org/obo/HP_0011517		
OBO:HP_0011518	Dichromacy	biolink:OntologyClass	hp	UMLS:C4023317	Individuals affected by dichromacy possess only two types of cones, instead of three.	http://purl.obolibrary.org/obo/HP_0011518		
OBO:HP_0011519	Anomalous trichromacy	biolink:OntologyClass	hp	UMLS:C4023316	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.	http://purl.obolibrary.org/obo/HP_0011519		
OBO:HP_0011520	Deuteranomaly	biolink:OntologyClass	hp	MSH:D003117|SNOMEDCT_US:246674000|SNOMEDCT_US:77479002|UMLS:C0155016	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.	http://purl.obolibrary.org/obo/HP_0011520		Green-weak|Deuteranomoly
OBO:HP_0011521	Deuteranopia	biolink:OntologyClass	hp	MSH:D003117|SNOMEDCT_US:246674000|SNOMEDCT_US:77479002|UMLS:C0155016	Complete lack of the M photopigment, which is replaced with the L photopigment. Affected individuals tend to confuse red and green.	http://purl.obolibrary.org/obo/HP_0011521		Green-blind
OBO:HP_0011522	Protanopia	biolink:OntologyClass	hp	MSH:D003117|SNOMEDCT_US:51445007|UMLS:C0155015	Blue and green cones only; no functional red cones.	http://purl.obolibrary.org/obo/HP_0011522		Red-blind
OBO:HP_0011523	Iris cyst	biolink:OntologyClass	hp	SNOMEDCT_US:37761009|UMLS:C0271119	An iris cyst is composed of a single cell layer of epithelium and is filled with fluid.	http://purl.obolibrary.org/obo/HP_0011523		
OBO:HP_0011524	Iris melanoma	biolink:OntologyClass	hp	NCIT:C3224|SNOMEDCT_US:255012009|UMLS:C0346373	Malignant tumor of melanocytes affecting the iris.	http://purl.obolibrary.org/obo/HP_0011524		
OBO:HP_0011525	Iris nevus	biolink:OntologyClass	hp	SNOMEDCT_US:95711003|UMLS:C0346376	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.	http://purl.obolibrary.org/obo/HP_0011525		Eye freckle
OBO:HP_0011526	Abnormality of lens shape	biolink:OntologyClass	hp	UMLS:C4023314	An abnormal shape of the lens.	http://purl.obolibrary.org/obo/HP_0011526		Abnormality of lens shape
OBO:HP_0011527	Lentiglobus	biolink:OntologyClass	hp	SNOMEDCT_US:419281007|UMLS:C1622439|UMLS:C4280322	Exaggerated curvature of the lens of the eye, producing an anterior or posterior spherical bulging.	http://purl.obolibrary.org/obo/HP_0011527	hposlim_core	Bulging of eye lens
OBO:HP_0011528	Solitary congenital hypertrophy of retinal pigment epithelium	biolink:OntologyClass	hp	UMLS:C4021145	Sharply demarcated hyperpigmentation which is congenital found in around 3-5% of the population and of no functional significance.	http://purl.obolibrary.org/obo/HP_0011528		Single isolated CHRPE|Single isolated congenital hypertrophy of retinal pigment epithelium
OBO:HP_0011529	Multiple bilateral congenital hypertrophy of retinal pigment epithelium	biolink:OntologyClass	hp	UMLS:C4021144	Sharply demarcated hyperpigmentation which is congenital.	http://purl.obolibrary.org/obo/HP_0011529		Multiple bilateral CHRPE
OBO:HP_0011530	Retinal hole	biolink:OntologyClass	hp	MSH:D012167|SNOMEDCT_US:232003005|SNOMEDCT_US:302888003|SNOMEDCT_US:40024006|SNOMEDCT_US:95690009|UMLS:C0035321	A small break in the retina.	http://purl.obolibrary.org/obo/HP_0011530		Retinal holes
OBO:HP_0011531	Vitritis	biolink:OntologyClass	hp	SNOMEDCT_US:95802009|UMLS:C0235812	Inflammation of the vitreous body, characterized by the presence of inflammatory cells and protein exudate in the vitreous cavity.	http://purl.obolibrary.org/obo/HP_0011531	hposlim_core	Hyalitis|Vitreitis
OBO:HP_0011532	Subretinal exudate	biolink:OntologyClass	hp	SNOMEDCT_US:247156002|UMLS:C0423431	A type of retinal exudate located in the subretinal space between the sensory retina and the retinal pigment epithelium.	http://purl.obolibrary.org/obo/HP_0011532		
OBO:HP_0011533	Snowflake vitreoretinal degeneration	biolink:OntologyClass	hp	MSH:C536677|UMLS:C1860405	The appearance of yellow/white crystalline-like (hence the name) spots in the retina and thickening of the peripheral part of the vitreous.	http://purl.obolibrary.org/obo/HP_0011533		Snowflake retinal degeneration
OBO:HP_0011534	Abnormal spatial orientation of the cardiac segments	biolink:OntologyClass	hp	UMLS:C4023313	Abnormality of the spatial relationship of the cardiac segments to other components of the heart.	http://purl.obolibrary.org/obo/HP_0011534		
OBO:HP_0011535	Abnormal atrial arrangement	biolink:OntologyClass	hp	SNOMEDCT_US:445898001|UMLS:C2959688	Abnormality of the spatial relationship of the atria to other components of the heart.	http://purl.obolibrary.org/obo/HP_0011535		Abnormal location of heart atrium
OBO:HP_0011536	Right atrial isomerism	biolink:OntologyClass	hp	MSH:D059446|UMLS:C3178806	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.	http://purl.obolibrary.org/obo/HP_0011536		
OBO:HP_0011537	Left atrial isomerism	biolink:OntologyClass	hp	EPCC:03.01.05|ICD-10:Q20.6|MSH:D059446|UMLS:C3178807	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.	http://purl.obolibrary.org/obo/HP_0011537		
OBO:HP_0011538	Atrial situs inversus	biolink:OntologyClass	hp	EPCC:03.01.03|Fyler:0150|Fyler:150|ICD-10:Q89.3|UMLS:C4023312	Mirror image atrial arrangement, with morphologic right atrium on the left hand side and morphologic left atrium on the right hand side.	http://purl.obolibrary.org/obo/HP_0011538		
OBO:HP_0011539	Atrial situs ambiguous	biolink:OntologyClass	hp	SNOMEDCT_US:448681000|UMLS:C3164429	Common atrium without defining morphologic features.	http://purl.obolibrary.org/obo/HP_0011539		Atrial heterotaxy|Atrial situs ambiguus
OBO:HP_0011540	Congenitally corrected transposition of the great arteries	biolink:OntologyClass	hp	EPCC:01.01.03|ICD-10:Q20.5|MSH:C535426|SNOMEDCT_US:56743000|SNOMEDCT_US:83799000|UMLS:C0232301|UMLS:C0344616	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.	http://purl.obolibrary.org/obo/HP_0011540		L-transposition|Ventricular inversion
OBO:HP_0011541	Criss-cross atrioventricular valves	biolink:OntologyClass	hp	UMLS:C4023310	Crossing of the inflow streams of the two ventricles, due to an apparent twisting of the heart about its long axis.	http://purl.obolibrary.org/obo/HP_0011541		
OBO:HP_0011542	Criss-cross atrioventricular valves with superior-inferior ventricles	biolink:OntologyClass	hp	UMLS:C4023309	Criss-cross atrioventricular valves with a rare cardiac malformation characterized by the two ventricles lying one above the other instead of side by side.	http://purl.obolibrary.org/obo/HP_0011542		
OBO:HP_0011543	Superior-inferior ventricles without criss-cross atrioventricular valves	biolink:OntologyClass	hp	Fyler:0184|Fyler:184|UMLS:C4023308		http://purl.obolibrary.org/obo/HP_0011543		
OBO:HP_0011544	L-looping of the right ventricle	biolink:OntologyClass	hp	UMLS:C4023307		http://purl.obolibrary.org/obo/HP_0011544		
OBO:HP_0011545	Abnormal connection of the cardiac segments	biolink:OntologyClass	hp	UMLS:C4023306	A deviance in the normal connections between two cardiac segements.	http://purl.obolibrary.org/obo/HP_0011545		Abnormal connexion of the cardiac segments|Discordant connection of the cardiac segments
OBO:HP_0011546	Abnormal atrioventricular connection	biolink:OntologyClass	hp	SNOMEDCT_US:253274005|UMLS:C0344612	An abnormality of the circulatory connection between atria and ventricles.	http://purl.obolibrary.org/obo/HP_0011546		Abnormal atrioventricular connexion
OBO:HP_0011547	Absent left sided atrioventricular connection	biolink:OntologyClass	hp	SNOMEDCT_US:253290005|UMLS:C0344629	A defect where there is no connection between the left atrium and left ventricle.	http://purl.obolibrary.org/obo/HP_0011547		Absent left sided atrioventricular connexion
OBO:HP_0011548	Absent right sided atrioventricular connection	biolink:OntologyClass	hp	SNOMEDCT_US:253285007|UMLS:C0344624	A defect where there is no connection between the right atrium and right ventricle.	http://purl.obolibrary.org/obo/HP_0011548		Absent right sided atrioventricular connexion
OBO:HP_0011549	Univentricular heart with absent left sided atrioventricular connection	biolink:OntologyClass	hp	UMLS:C4023305		http://purl.obolibrary.org/obo/HP_0011549		Univentricular heart with absent left sided atrioventricular connexion
OBO:HP_0011550	Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection	biolink:OntologyClass	hp	UMLS:C4023304		http://purl.obolibrary.org/obo/HP_0011550		
OBO:HP_0011551	Right sided atrium to left ventricle and absent left sided atrioventricular connection	biolink:OntologyClass	hp	UMLS:C4023303		http://purl.obolibrary.org/obo/HP_0011551		Right sided atrium to left ventricle and absent left sided atrioventricular connexion
OBO:HP_0011552	Ambiguous atrioventricular connection	biolink:OntologyClass	hp	SNOMEDCT_US:253278008|UMLS:C0344617	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).	http://purl.obolibrary.org/obo/HP_0011552		Ambiguous atrioventricular connexion
OBO:HP_0011553	Discordant atrioventricular connection	biolink:OntologyClass	hp	SNOMEDCT_US:253277003|UMLS:C0344615	Connection of the right atrium to the left ventricle and of the left atrium to the right ventricle in a biventricular heart.	http://purl.obolibrary.org/obo/HP_0011553		Discordant atrioventricular connexion
OBO:HP_0011554	Double inlet atrioventricular connection	biolink:OntologyClass	hp	EPCC:01.01.14|ICD-10:Q20.4|UMLS:C4023302	The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve.	http://purl.obolibrary.org/obo/HP_0011554		Double inlet atrioventricular connexion
OBO:HP_0011555	Double inlet left ventricle	biolink:OntologyClass	hp	EPCC:01.04.04|ICD-10:Q20.4|SNOMEDCT_US:253283000|UMLS:C0344622	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.	http://purl.obolibrary.org/obo/HP_0011555		
OBO:HP_0011556	Double inlet right ventricle	biolink:OntologyClass	hp	EPCC:01.04.03|ICD-10:Q20.4|SNOMEDCT_US:253282005|UMLS:C0344621	The condition in which both atria are joined to the right ventricle each by its own atrioventricular valve. Usually, the left ventricle is hypoplastic.	http://purl.obolibrary.org/obo/HP_0011556		
OBO:HP_0011557	Double inlet to single ventricle of indeterminate morphology	biolink:OntologyClass	hp	UMLS:C4023301	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.	http://purl.obolibrary.org/obo/HP_0011557		
OBO:HP_0011558	Double inlet to single ventricle with common atrioventricular orifice	biolink:OntologyClass	hp	UMLS:C4023300		http://purl.obolibrary.org/obo/HP_0011558		
OBO:HP_0011559	Double inlet to single ventricle with two atrioventricular valves	biolink:OntologyClass	hp	UMLS:C4023299		http://purl.obolibrary.org/obo/HP_0011559		
OBO:HP_0011560	Mitral atresia	biolink:OntologyClass	hp	EPCC:06.02.01|Fyler:0310|Fyler:310|ICD-10:Q23.2|SNOMEDCT_US:23063005|UMLS:C0344760	A congenital defect with failure to open of the mitral valve orifice.	http://purl.obolibrary.org/obo/HP_0011560		Mitral valve atresia
OBO:HP_0011561	Overriding atrioventricular valve	biolink:OntologyClass	hp	UMLS:C4023298	An atrioventricular valve that empties into both ventricles. The valve overrides the interventricular septum above a ventricular septum defect.	http://purl.obolibrary.org/obo/HP_0011561		
OBO:HP_0011562	Straddling atrioventricular valve	biolink:OntologyClass	hp	UMLS:C4023297	Anomalous insertion of the chordae tendinae or papillary muscles into the contralateral ventricle in the presence of a ventricular septum defect.	http://purl.obolibrary.org/obo/HP_0011562		
OBO:HP_0011563	Abnormal ventriculoarterial connection	biolink:OntologyClass	hp	UMLS:C4023296	An abnormality of the circulatory connection between the ventricles and the pulmonary artery and aorta.	http://purl.obolibrary.org/obo/HP_0011563		Abnormal ventriculoarterial connexion|Abnormal ventriculo-arterial connection
OBO:HP_0011564	Mitral valve arcade	biolink:OntologyClass	hp	UMLS:C4021143	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.	http://purl.obolibrary.org/obo/HP_0011564		Hammock mitral valve
OBO:HP_0011565	Common atrium	biolink:OntologyClass	hp	Fyler:1140|ICD-10:Q21.2|SNOMEDCT_US:253276007|UMLS:C0392482	Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections.	http://purl.obolibrary.org/obo/HP_0011565		Single atrium
OBO:HP_0011566	Cor triatriatum dexter	biolink:OntologyClass	hp	Fyler:2854|SNOMEDCT_US:274947007|UMLS:C0344697	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.	http://purl.obolibrary.org/obo/HP_0011566		Cor triatriatum dextrum
OBO:HP_0011567	Sinus venosus atrial septal defect	biolink:OntologyClass	hp	Fyler:2010|ICD-10:Q21.1|MSH:C548009|SNOMEDCT_US:95268002|UMLS:C0344730	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.	http://purl.obolibrary.org/obo/HP_0011567		
OBO:HP_0011568	Double orifice mitral valve	biolink:OntologyClass	hp	SNOMEDCT_US:253402005|UMLS:C0344770	The left atrio-ventricular connection consists of two anatomically distinct orifices separated by accessory fibrous tissue.	http://purl.obolibrary.org/obo/HP_0011568		
OBO:HP_0011569	Cleft anterior mitral valve leaflet	biolink:OntologyClass	hp	UMLS:C4023295	Cleft in the anterior mitral valve leaflet not associated with an atrioventricular canal defect.	http://purl.obolibrary.org/obo/HP_0011569		
OBO:HP_0011570	Congenital mitral stenosis	biolink:OntologyClass	hp	SNOMEDCT_US:82458004|UMLS:C0158618	Mitral stenosis with congenital onset.	http://purl.obolibrary.org/obo/HP_0011570		
OBO:HP_0011571	Parachute mitral valve	biolink:OntologyClass	hp	SNOMEDCT_US:204362007|UMLS:C0546965	Abnormality of the mitral valve apparatus, whereby chordae attach to a single papillary muscle or hypoplastic papillary muscles.	http://purl.obolibrary.org/obo/HP_0011571		
OBO:HP_0011572	Supramitral ring	biolink:OntologyClass	hp	UMLS:C4021142	A congenital stenotic mitral valvular anomaly with a ring of tissue above the mitral valve.	http://purl.obolibrary.org/obo/HP_0011572		Membranous supravalvular mitral stenosis|Supravalvular mitral ring
OBO:HP_0011573	Hypoplastic tricuspid valve	biolink:OntologyClass	hp	Fyler:1720|UMLS:C4023294	Congenital defect characterized by underdevelopment of the tricuspid valve.	http://purl.obolibrary.org/obo/HP_0011573		Tricuspid valve hypoplasia|Underdeveloped tricuspid valve
OBO:HP_0011574	Imperforate atrioventricular valve	biolink:OntologyClass	hp	UMLS:C4023293	An atrioventricular valve that has failed to open (atretic).	http://purl.obolibrary.org/obo/HP_0011574		Unopened atrioventricular valve
OBO:HP_0011575	Imperforate tricuspid valve	biolink:OntologyClass	hp	UMLS:C4023292	A tricuspid valve that has failed to open.	http://purl.obolibrary.org/obo/HP_0011575		Unopened tricuspid valve
OBO:HP_0011576	Intermediate atrioventricular canal defect	biolink:OntologyClass	hp	Fyler:1121|UMLS:C4023291	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.	http://purl.obolibrary.org/obo/HP_0011576		Intermediate atrioventricular septal defect
OBO:HP_0011577	Partial atrioventricular canal defect	biolink:OntologyClass	hp	SNOMEDCT_US:718216009|UMLS:C4023290	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.	http://purl.obolibrary.org/obo/HP_0011577		
OBO:HP_0011578	Transitional atrioventricular canal defect	biolink:OntologyClass	hp	UMLS:C4023289	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.	http://purl.obolibrary.org/obo/HP_0011578		
OBO:HP_0011579	Unbalanced atrioventricular canal defect	biolink:OntologyClass	hp	UMLS:C3280940	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).	http://purl.obolibrary.org/obo/HP_0011579		Unbalanced atrioventricular septal defect
OBO:HP_0011580	Short chordae tendineae of the mitral valve	biolink:OntologyClass	hp	UMLS:C4023288	Abnormally short chordae tendineae of the mitral valve.	http://purl.obolibrary.org/obo/HP_0011580		
OBO:HP_0011581	Double outlet left ventricle	biolink:OntologyClass	hp	Fyler:0650|Fyler:650|ICD-10:Q20.2|SNOMEDCT_US:7368005|UMLS:C0265809	A congenital defect of heart development characterized by origin of both pulmonary artery and aorta from the morphological left ventricle.	http://purl.obolibrary.org/obo/HP_0011581		
OBO:HP_0011582	Abdominal ectopia cordis	biolink:OntologyClass	hp	UMLS:C4023287	Displacement of the heart outside the thoracic cavity and into the abdomen.	http://purl.obolibrary.org/obo/HP_0011582		
OBO:HP_0011583	Cervical ectopia cordis	biolink:OntologyClass	hp	UMLS:C4023286	A type of ectopia cordis with the heart partially in the cervical region and without a defect of the sternum.	http://purl.obolibrary.org/obo/HP_0011583		
OBO:HP_0011584	Thoracocervical ectopia cordis	biolink:OntologyClass	hp	UMLS:C4023285	A type of ectopia cordis with the heart partially in the cervical region with a defect of the superior portion of the sternum.	http://purl.obolibrary.org/obo/HP_0011584		
OBO:HP_0011585	Thoracic ectopia cordis	biolink:OntologyClass	hp	UMLS:C4023284	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.	http://purl.obolibrary.org/obo/HP_0011585		
OBO:HP_0011586	Thoracoabdominal ectopia cordis	biolink:OntologyClass	hp	UMLS:C4023283	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.	http://purl.obolibrary.org/obo/HP_0011586		
OBO:HP_0011587	Abnormal branching pattern of the aortic arch	biolink:OntologyClass	hp	UMLS:C4023282	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.	http://purl.obolibrary.org/obo/HP_0011587		
OBO:HP_0011588	Cervical aortic arch	biolink:OntologyClass	hp	SNOMEDCT_US:253657003|UMLS:C0345065	The aortic arch extends into the soft tissues of the neck before turning down into to become the descending aorta.	http://purl.obolibrary.org/obo/HP_0011588		
OBO:HP_0011589	Common origin of the right brachiocephalic artery and left common carotid artery	biolink:OntologyClass	hp	SNOMEDCT_US:460890003|UMLS:C3532020|UMLS:C4020746|UMLS:C4021141	The left common carotid artery has a common origin with the innominate artery.	http://purl.obolibrary.org/obo/HP_0011589		Common brachiocephalic trunk|Bovine arch|Ovine arch
OBO:HP_0011590	Double aortic arch	biolink:OntologyClass	hp	Fyler:2761|SNOMEDCT_US:10451007|UMLS:C0265883	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).	http://purl.obolibrary.org/obo/HP_0011590		
OBO:HP_0011591	Left aortic arch with cervical origin of the right subclavian artery	biolink:OntologyClass	hp	UMLS:C4023281		http://purl.obolibrary.org/obo/HP_0011591		
OBO:HP_0011592	Left aortic arch with isolated subclavian artery	biolink:OntologyClass	hp	UMLS:C4023280	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.	http://purl.obolibrary.org/obo/HP_0011592		
OBO:HP_0011593	Left aortic arch with retroesophageal diverticulum of Kommerell	biolink:OntologyClass	hp	SNOMEDCT_US:74561007|UMLS:C0265885	A patent ductus arteriosus or ductal ligament completes the ring.	http://purl.obolibrary.org/obo/HP_0011593		Kommerell diverticulum
OBO:HP_0011594	Right aortic arch with retroesophageal diverticulum of Kommerell	biolink:OntologyClass	hp	UMLS:C4023279	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.	http://purl.obolibrary.org/obo/HP_0011594		
OBO:HP_0011595	Left aortic arch with retroesophageal right subclavian artery	biolink:OntologyClass	hp	UMLS:C4023278	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.	http://purl.obolibrary.org/obo/HP_0011595		
OBO:HP_0011596	Left aortic arch with right descending aorta and right ductus arteriosus	biolink:OntologyClass	hp	UMLS:C4023277	The ring may be completed by the ductal ligament.	http://purl.obolibrary.org/obo/HP_0011596		
OBO:HP_0011597	Right aortic arch with left descending aorta and left ductus arteriosus	biolink:OntologyClass	hp	UMLS:C4023276		http://purl.obolibrary.org/obo/HP_0011597		
OBO:HP_0011598	Right aortic arch with retroesophageal left subclavian artery	biolink:OntologyClass	hp	UMLS:C4021140		http://purl.obolibrary.org/obo/HP_0011598		Right aortic arch with aberrant left subclavian artery|Right aortic arch with anomalous left subclavian artery
OBO:HP_0011599	Mesocardia	biolink:OntologyClass	hp	Fyler:0140|Fyler:140|SNOMEDCT_US:16567006|UMLS:C0265865	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.	http://purl.obolibrary.org/obo/HP_0011599		
OBO:HP_0011600	Abnormal direction of ventricular apex	biolink:OntologyClass	hp	UMLS:C4023275	Abnormal plane of direction of the heart from the base to the apex. Left sided is normal.	http://purl.obolibrary.org/obo/HP_0011600		
OBO:HP_0011601	Rightward direction of ventricular apex	biolink:OntologyClass	hp	UMLS:C4023274	Abnormal plane of direction of the heart from the base to the apex towards the right. Left sided is normal.	http://purl.obolibrary.org/obo/HP_0011601		
OBO:HP_0011602	Midline direction of ventricular apex	biolink:OntologyClass	hp	UMLS:C4023273	Abnormal plane of direction of the heart from the base to the apex in the midline. Left sided is normal.	http://purl.obolibrary.org/obo/HP_0011602		
OBO:HP_0011603	Congenital malformation of the great arteries	biolink:OntologyClass	hp	UMLS:C0478012	Defect or defects of the morphogenesis of the aorta and pulmonary arteries.	http://purl.obolibrary.org/obo/HP_0011603		
OBO:HP_0011604	Aortopulmonary window	biolink:OntologyClass	hp	Fyler:0560|Fyler:560|MSH:D001028|SNOMEDCT_US:17024001|UMLS:C0003516	A congenital anomaly with an abnormal connection between the aorta and the main pulmonary artery resulting in an aortopulmonary shunt.	http://purl.obolibrary.org/obo/HP_0011604		
OBO:HP_0011605	Congenitally corrected transposition of the great arteries with ventricular septal defect	biolink:OntologyClass	hp	UMLS:C4023272	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.	http://purl.obolibrary.org/obo/HP_0011605		
OBO:HP_0011606	obsolete Transposition of the great arteries with intact ventricular septum	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0011606		
OBO:HP_0011607	obsolete Transposition of the great arteries with ventricular septal defect	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0011607		
OBO:HP_0011608	Type II truncus arteriosus	biolink:OntologyClass	hp	Fyler:0520|Fyler:520|UMLS:C4021137	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.	http://purl.obolibrary.org/obo/HP_0011608		Persistent truncus arteriosus type II|Type 2 truncus arteriosus
OBO:HP_0011609	Type III truncus arteriosus	biolink:OntologyClass	hp	Fyler:0530|Fyler:530|UMLS:C4021136	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.	http://purl.obolibrary.org/obo/HP_0011609		Persistent truncus arteriosus type III|Type 3 truncus arteriosus
OBO:HP_0011610	Type IV truncus arteriosus	biolink:OntologyClass	hp	Fyler:0540|Fyler:540|UMLS:C4021135	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.	http://purl.obolibrary.org/obo/HP_0011610		Persistent truncus arteriosus type IV|Type 4 truncus arteriosus
OBO:HP_0011611	Interrupted aortic arch	biolink:OntologyClass	hp	Fyler:1241|Fyler:1250|SNOMEDCT_US:218728005|UMLS:C0152419	Non-continuity of the arch of aorta with an atretic point or absent segment.	http://purl.obolibrary.org/obo/HP_0011611		Atretic transverse aortic arch|Aortic arch obstruction
OBO:HP_0011612	Interrupted aortic arch type A	biolink:OntologyClass	hp	SNOMEDCT_US:253681005|UMLS:C0345092	Non-continuity of the aortic arch with an atretic point or absent segment at the level of the isthmus.	http://purl.obolibrary.org/obo/HP_0011612		
OBO:HP_0011613	Interrupted aortic arch type B	biolink:OntologyClass	hp	Fyler:1252|SNOMEDCT_US:253682003|UMLS:C0345093	Non-continuity of the aortic arch with an atretic point or absent segment between the left carotid and subclavian arteries.	http://purl.obolibrary.org/obo/HP_0011613		Interrupted aortic arch, type b
OBO:HP_0011614	Interrupted aortic arch type C	biolink:OntologyClass	hp	SNOMEDCT_US:253683008|UMLS:C0345094	Non-continuity of the aortic arch with an atretic point or absent segment between the innominate and left carotid arteries.	http://purl.obolibrary.org/obo/HP_0011614		
OBO:HP_0011615	Abnormal pulmonary situs morphology	biolink:OntologyClass	hp	UMLS:C4023271	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.	http://purl.obolibrary.org/obo/HP_0011615		Abnormality of pulmonary situs
OBO:HP_0011616	Pulmonary situs inversus	biolink:OntologyClass	hp	UMLS:C4023270	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.	http://purl.obolibrary.org/obo/HP_0011616		
OBO:HP_0011617	Pulmonary situs ambiguus	biolink:OntologyClass	hp	UMLS:C4023269	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.	http://purl.obolibrary.org/obo/HP_0011617		
OBO:HP_0011618	Pulmonary situs ambiguus with bilateral morphologic right lungs	biolink:OntologyClass	hp	UMLS:C4023268	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.	http://purl.obolibrary.org/obo/HP_0011618		
OBO:HP_0011619	Pulmonary situs ambiguus with bilateral morphologic left lungs	biolink:OntologyClass	hp	UMLS:C4023267	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.	http://purl.obolibrary.org/obo/HP_0011619		
OBO:HP_0011620	Abnormality of abdominal situs	biolink:OntologyClass	hp	UMLS:C4023266	An abnormality of the abdominal situs, i.e., of the sidedness of the abdomen and its organs.	http://purl.obolibrary.org/obo/HP_0011620		
OBO:HP_0011621	Gerbode ventricular septal defect	biolink:OntologyClass	hp	SNOMEDCT_US:41893002|UMLS:C0265812|UMLS:C4023265	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.	http://purl.obolibrary.org/obo/HP_0011621		Left ventricular - right atrial communication
OBO:HP_0011622	Inlet ventricular septal defect	biolink:OntologyClass	hp	Fyler:1340	A ventricular septal defect that involves the inlet of the right ventricular septum immediately inferior to the AV valve apparatus.	http://purl.obolibrary.org/obo/HP_0011622		Atrioventricular canal type ventricular septal defect|Type 3 ventricular septal defect
OBO:HP_0011623	Muscular ventricular septal defect	biolink:OntologyClass	hp	Fyler:1320|SNOMEDCT_US:94706008|UMLS:C0685707	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.	http://purl.obolibrary.org/obo/HP_0011623		Type 4 ventricular septal defect|Ventricular septal defect, muscular
OBO:HP_0011624	Apical muscular ventricular septal defect	biolink:OntologyClass	hp	UMLS:C4023264	A muscular ventricular septal defect located at the apex of the heart.	http://purl.obolibrary.org/obo/HP_0011624		
OBO:HP_0011625	Multiple muscular ventricular septal defects	biolink:OntologyClass	hp	UMLS:C4023263	A type of muscular ventricular septal defect characterized by the presence of multiple small defects in the ventricular septum.	http://purl.obolibrary.org/obo/HP_0011625		Swiss cheese ventricular septal defect
OBO:HP_0011626	Scimitar anomaly	biolink:OntologyClass	hp	ICD-10:Q26.8|MSH:D012587|SNOMEDCT_US:111323005|SNOMEDCT_US:39905002|UMLS:C0036400	Right pulmonary venous return to the inferior vena cava.	http://purl.obolibrary.org/obo/HP_0011626		Pulmonary venolobar syndrome|Scimitar syndrome
OBO:HP_0011627	Aorto-ventricular tunnel	biolink:OntologyClass	hp	UMLS:C4023262	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.	http://purl.obolibrary.org/obo/HP_0011627		
OBO:HP_0011628	Congenital defect of the pericardium	biolink:OntologyClass	hp	UMLS:C4023261	A developmental defect of the pericardium with congenital onset.	http://purl.obolibrary.org/obo/HP_0011628		
OBO:HP_0011629	Total absence of the pericardium	biolink:OntologyClass	hp	Fyler:1910|SNOMEDCT_US:253732001|UMLS:C0345140	No pericardium around the heart, occurring as a congenital defect, not the result of a surgical pericardectomy.	http://purl.obolibrary.org/obo/HP_0011629		Absent pericardium|Congenital absence of the pericardium
OBO:HP_0011630	Complete diaphragmatic absence of pericardium	biolink:OntologyClass	hp	UMLS:C4023259	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.	http://purl.obolibrary.org/obo/HP_0011630		
OBO:HP_0011631	Complete right sided absence of pericardium	biolink:OntologyClass	hp	UMLS:C4023258	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.	http://purl.obolibrary.org/obo/HP_0011631		
OBO:HP_0011632	Partial right sided absence of pericardium	biolink:OntologyClass	hp	UMLS:C4023257	A congenital anomaly with lack of part of the pericardium on the righthand side of the heart.	http://purl.obolibrary.org/obo/HP_0011632		
OBO:HP_0011633	Complete left sided absence of pericardium	biolink:OntologyClass	hp	UMLS:C4023256	A congenital anomaly with complete lack of the pericardium on the lefthand side of the heart.	http://purl.obolibrary.org/obo/HP_0011633		Absent lining around of left side of heart
OBO:HP_0011634	Partial left sided absence of pericardium	biolink:OntologyClass	hp	UMLS:C4023255	A congenital anomaly with lack of part of the pericardium on the lefthand side of the heart.	http://purl.obolibrary.org/obo/HP_0011634		
OBO:HP_0011635	Partial diaphragmatic absence of pericardium	biolink:OntologyClass	hp	UMLS:C4023254	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.	http://purl.obolibrary.org/obo/HP_0011635		
OBO:HP_0011636	Abnormal coronary artery origin	biolink:OntologyClass	hp	UMLS:C4023253	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.	http://purl.obolibrary.org/obo/HP_0011636		
OBO:HP_0011637	Anomalous origin of coronary artery from the pulmonary artery	biolink:OntologyClass	hp	UMLS:C4023252	A coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta.	http://purl.obolibrary.org/obo/HP_0011637		
OBO:HP_0011638	Anomalous origin of left coronary artery from the pulmonary artery	biolink:OntologyClass	hp	Fyler:3101|SNOMEDCT_US:450301003|UMLS:C3472166	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.	http://purl.obolibrary.org/obo/HP_0011638		ALCAPA|Anomalous left coronary artery from the pulmonary artery|Bland-Garland-White syndrome
OBO:HP_0011639	Anomalous origin of right coronary artery from the pulmonary artery	biolink:OntologyClass	hp	SNOMEDCT_US:450300002|UMLS:C3472165	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.	http://purl.obolibrary.org/obo/HP_0011639		
OBO:HP_0011640	Single coronary artery origin	biolink:OntologyClass	hp	UMLS:C4023251	The presence of a single coronary artery ostium from which both coronary arteries arise.	http://purl.obolibrary.org/obo/HP_0011640		
OBO:HP_0011641	Coronary artery fistula	biolink:OntologyClass	hp	Fyler:2230|SNOMEDCT_US:373093003|UMLS:C0265898	A congenital malformation with abnormal connection between one of the coronary arteries and a heart chamber or another blood vessel.	http://purl.obolibrary.org/obo/HP_0011641		Coronary fistula
OBO:HP_0011642	Abnormal coronary sinus morphology	biolink:OntologyClass	hp	Fyler:2840|SNOMEDCT_US:253323000|UMLS:C0344680	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.	http://purl.obolibrary.org/obo/HP_0011642		Abnormality of the coronary sinus
OBO:HP_0011643	Coronary sinus atrial septal defect	biolink:OntologyClass	hp	ICD-10:Q21.1|UMLS:C2063331	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.	http://purl.obolibrary.org/obo/HP_0011643		
OBO:HP_0011644	Coronary sinus diverticulum	biolink:OntologyClass	hp	SNOMEDCT_US:447661004|UMLS:C3163894	A venous pouch within the left ventricular wall, with a neck opening into the coronary sinus.	http://purl.obolibrary.org/obo/HP_0011644		Diverticulum of the coronary sinus
OBO:HP_0011645	Dilatation of the sinus of Valsalva	biolink:OntologyClass	hp	Fyler:2316|SNOMEDCT_US:54160000|UMLS:C2239253	Abnormal outpouching or sac-like dilatation of one of the anatomic dilations of the ascending aorta, which occurs just above the aortic valve.	http://purl.obolibrary.org/obo/HP_0011645		Aortic sinus aneurysm|Aneurysm of the aortic sinus|Sinus of Valsalva aneurysm
OBO:HP_0011646	Juxtaductal coarctation of the aorta	biolink:OntologyClass	hp	UMLS:C4023250	Narrowing or constriction of the aorta localized at the insertion of the ductus arteriosus, i.e., to the juxtaductal region of aortic arch.	http://purl.obolibrary.org/obo/HP_0011646		
OBO:HP_0011647	Postductal coarctation of the aorta	biolink:OntologyClass	hp	SNOMEDCT_US:72242008|UMLS:C0265879	Narrowing or constriction of the aorta localized distal to the ductus arteriosus, i.e., to the postductal region of aortic arch.	http://purl.obolibrary.org/obo/HP_0011647		Postductal aortic coarctation
OBO:HP_0011648	Patent ductus arteriosus after birth at term	biolink:OntologyClass	hp	UMLS:C4023249	Abnormal persistent patency of the ductus arteriosus in postnatal life when birth was at 37 completed weeks of gestation or greater.	http://purl.obolibrary.org/obo/HP_0011648		
OBO:HP_0011649	Patent ductus arteriosus after premature birth	biolink:OntologyClass	hp	UMLS:C4023248	Abnormal persistent patency of the ductus arteriosus when birth was at less than 37 weeks completed gestation.	http://purl.obolibrary.org/obo/HP_0011649		
OBO:HP_0011650	Bilateral ductus arteriosus	biolink:OntologyClass	hp	SNOMEDCT_US:461093009|UMLS:C0431501	The presence of both a left and a right ductus arteriosus.	http://purl.obolibrary.org/obo/HP_0011650		Bilateral ductus botalli
OBO:HP_0011651	Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis	biolink:OntologyClass	hp	SNOMEDCT_US:448516008|UMLS:C3165091	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.	http://purl.obolibrary.org/obo/HP_0011651		DORV with doubly committed VSD and pulmonary stenosis
OBO:HP_0011652	Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis	biolink:OntologyClass	hp	Fyler:0604|Fyler:604|UMLS:C4023247	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.	http://purl.obolibrary.org/obo/HP_0011652		DORV with doubly committed VSD|Double outlet right ventricle, doubly committed ventricular septal defect
OBO:HP_0011653	Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis	biolink:OntologyClass	hp	UMLS:C4023246	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.	http://purl.obolibrary.org/obo/HP_0011653		DORV with non-committed VSD and pulmonary stenosis
OBO:HP_0011654	Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis	biolink:OntologyClass	hp	Fyler:0603|Fyler:603|UMLS:C4023245	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.	http://purl.obolibrary.org/obo/HP_0011654		DORV with non-committed VSD without pulmonary stenosis|Double outlet right ventricle, noncommitted ventricular septal defect
OBO:HP_0011655	Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis	biolink:OntologyClass	hp	UMLS:C4023244	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.	http://purl.obolibrary.org/obo/HP_0011655		DORV with subaortic VSD and pulmonary stenosis
OBO:HP_0011656	Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis	biolink:OntologyClass	hp	UMLS:C4023243	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.	http://purl.obolibrary.org/obo/HP_0011656		DORV with subaortic VSD without pulmonary stenosis
OBO:HP_0011657	Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis	biolink:OntologyClass	hp	UMLS:C4023242	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.	http://purl.obolibrary.org/obo/HP_0011657		DORV with subpulmonary VSD and pulmonary stenosis
OBO:HP_0011658	Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis	biolink:OntologyClass	hp	UMLS:C4023241	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.	http://purl.obolibrary.org/obo/HP_0011658		DORV with subpulmonary VSD without pulmonary stenosis|Taussig-Bing anomaly
OBO:HP_0011659	Tetralogy of Fallot with absent pulmonary valve	biolink:OntologyClass	hp	SNOMEDCT_US:399228007|UMLS:C1302264	Features of tetralogy of Fallot with either rudimentary ridges or the complete absence of pulmonic valve tissue.	http://purl.obolibrary.org/obo/HP_0011659		Tetralogy of Fallot with absent pulmonary valve syndrome
OBO:HP_0011660	Anomalous origin of one pulmonary artery from ascending aorta	biolink:OntologyClass	hp	Fyler:0550|Fyler:550|UMLS:C4021134	Anomalous origin of one pulmonary artery from the ascending aorta with the contralateral pulmonary artery arising from the right ventricle.	http://purl.obolibrary.org/obo/HP_0011660		Hemitruncus
OBO:HP_0011661	Anomalous origin of left pulmonary artery from ascending aorta	biolink:OntologyClass	hp	SNOMEDCT_US:253637002|UMLS:C0345040	The left pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery.	http://purl.obolibrary.org/obo/HP_0011661		
OBO:HP_0011662	Tricuspid atresia	biolink:OntologyClass	hp	EPCC:06.01.01|Fyler:0400|Fyler:400|ICD-10:Q22.4|MSH:D018785|SNOMEDCT_US:253455004|SNOMEDCT_US:63042009|UMLS:C0243002	Failure to develop of the tricuspid valve and thus lack of the normal connection between the right atrium and the right ventricle.	http://purl.obolibrary.org/obo/HP_0011662		Tricuspid valve atresia
OBO:HP_0011663	Right ventricular cardiomyopathy	biolink:OntologyClass	hp	UMLS:C2063326	Right ventricular dysfunction (global or regional) with functional and morphological right ventricular abnormalities, with or without left ventricular disease.	http://purl.obolibrary.org/obo/HP_0011663		Cardiomyopathy, right ventricular|Cardiomyopathy, esp. right ventricular
OBO:HP_0011664	Left ventricular noncompaction cardiomyopathy	biolink:OntologyClass	hp	UMLS:C4021133	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.	http://purl.obolibrary.org/obo/HP_0011664		Left ventricular non-compaction cardiomyopathy
OBO:HP_0011665	Takotsubo cardiomyopathy	biolink:OntologyClass	hp	MSH:D054549|SNOMEDCT_US:441541008|UMLS:C1739395	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.	http://purl.obolibrary.org/obo/HP_0011665		Broken-heart syndrome
OBO:HP_0011666	Absent right superior vena cava	biolink:OntologyClass	hp	SNOMEDCT_US:253308005|UMLS:C0344656	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.	http://purl.obolibrary.org/obo/HP_0011666		
OBO:HP_0011667	Bilateral superior vena cava with bridging vein	biolink:OntologyClass	hp	UMLS:C4023240		http://purl.obolibrary.org/obo/HP_0011667		
OBO:HP_0011668	Bilateral superior vena cava with no bridging vein	biolink:OntologyClass	hp	UMLS:C4023239		http://purl.obolibrary.org/obo/HP_0011668		
OBO:HP_0011669	Left superior vena cava draining directly to the left atrium	biolink:OntologyClass	hp	UMLS:C4023238	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.	http://purl.obolibrary.org/obo/HP_0011669		
OBO:HP_0011670	Left superior vena cava draining to coronary sinus	biolink:OntologyClass	hp	ICD-10:Q26.1|UMLS:C2677768	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.	http://purl.obolibrary.org/obo/HP_0011670		
OBO:HP_0011671	Interrupted inferior vena cava with azygous continuation	biolink:OntologyClass	hp	ICD-10:26.8|UMLS:C4023237	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.	http://purl.obolibrary.org/obo/HP_0011671		
OBO:HP_0011672	Cardiac myxoma	biolink:OntologyClass	hp	NCIT:C6577|SNOMEDCT_US:426191007|UMLS:C1960546	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.	http://purl.obolibrary.org/obo/HP_0011672		
OBO:HP_0011673	Cardiac hemangioma	biolink:OntologyClass	hp	NCIT:C3085|UMLS:C1707298	Abnormal proliferation of blood vessels within the cardiac cavities attached to the endocardium.	http://purl.obolibrary.org/obo/HP_0011673		
OBO:HP_0011674	Cardiac teratoma	biolink:OntologyClass	hp	NCIT:C3403|UMLS:C1112387	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.	http://purl.obolibrary.org/obo/HP_0011674		
OBO:HP_0011675	Arrhythmia	biolink:OntologyClass	hp	MSH:C562490|MSH:D001145|SNOMEDCT_US:102594003|SNOMEDCT_US:44808001|SNOMEDCT_US:698247007|UMLS:C0003811|UMLS:C0264886|UMLS:C0522055|UMLS:C0855329|UMLS:C1832603|UMLS:C1842820	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.	http://purl.obolibrary.org/obo/HP_0011675		Abnormal heart rate|Heart rhythm disorders|Irregular heart beat|Irregular heartbeat|Arrhythmias|Cardiac arrhythmia|Cardiac arrhythmias|Cardiac rhythm disturbances
OBO:HP_0011676	Tetralogy of Fallot with absent subarterial conus	biolink:OntologyClass	hp	UMLS:C4023236		http://purl.obolibrary.org/obo/HP_0011676		
OBO:HP_0011677	Tetralogy of Fallot with atrioventricular canal defect	biolink:OntologyClass	hp	UMLS:C4023235		http://purl.obolibrary.org/obo/HP_0011677		
OBO:HP_0011678	Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries	biolink:OntologyClass	hp	UMLS:C4023234	A type of tetralogy of Fallot with pulmonary atresia in which all pulmonary blood flow is derived from major aortopulmonary collateral arteries (MAPCA).	http://purl.obolibrary.org/obo/HP_0011678		
OBO:HP_0011679	Tetralogy of Fallot with pulmonary stenosis	biolink:OntologyClass	hp	SNOMEDCT_US:253512000|UMLS:C0344881	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.	http://purl.obolibrary.org/obo/HP_0011679		
OBO:HP_0011680	Single ventricle of indeterminate morphology	biolink:OntologyClass	hp	UMLS:C4023233		http://purl.obolibrary.org/obo/HP_0011680		
OBO:HP_0011681	Subarterial ventricular septal defect	biolink:OntologyClass	hp	Fyler:1330|SNOMEDCT_US:448876006|UMLS:C3165130	A ventricular septal defect that lies beneath the semilunar valve(s) in the conal or outlet septum.	http://purl.obolibrary.org/obo/HP_0011681		Conal ventricular septal defect|Doubly committed ventricular septal defect|Infundibular ventricular septal defect|Supracristal ventricular septal defect|Type 1 ventricular septal defect
OBO:HP_0011682	Perimembranous ventricular septal defect	biolink:OntologyClass	hp	Fyler:1310|SNOMEDCT_US:109428005|UMLS:C0344925	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.	http://purl.obolibrary.org/obo/HP_0011682		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
OBO:HP_0011683	Restrictive ventricular septal defect	biolink:OntologyClass	hp	SNOMEDCT_US:253551005|UMLS:C0344924	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.	http://purl.obolibrary.org/obo/HP_0011683		
OBO:HP_0011684	Non-restrictive ventricular septal defect	biolink:OntologyClass	hp	SNOMEDCT_US:373131000|UMLS:C1298817	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.	http://purl.obolibrary.org/obo/HP_0011684		
OBO:HP_0011685	Infra-aortic superior vena cava	biolink:OntologyClass	hp	UMLS:C4023232	The superior vena cava passes below the aortic arch.	http://purl.obolibrary.org/obo/HP_0011685		
OBO:HP_0011686	Abnormal coronary artery course	biolink:OntologyClass	hp	SNOMEDCT_US:253714001|UMLS:C0345122	An abnormal path of a coronary artery.	http://purl.obolibrary.org/obo/HP_0011686		Anomalous coronary artery course
OBO:HP_0011687	AV nodal tachycardia	biolink:OntologyClass	hp	UMLS:C0857265	A type of supraventricular tachycardia that originates in the atrioventricular node.	http://purl.obolibrary.org/obo/HP_0011687		AV nodal tachycardia|Atrioventricular nodal tachycardia
OBO:HP_0011688	Supraventricular tachycardia with an accessory connection mediated pathway	biolink:OntologyClass	hp	UMLS:C4021132	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.	http://purl.obolibrary.org/obo/HP_0011688		Supraventricular tachycardia with an accessory connexion mediated pathway|Atrioventricular re-entry tachycardia
OBO:HP_0011689	Supraventricular tachycardia with a concealed accessory connection	biolink:OntologyClass	hp	UMLS:C4023231	Supraventricular tachycardia with an accessory connection mediated pathway that is called concealed becasue it is not seen on the ECG during sinus rhythm.	http://purl.obolibrary.org/obo/HP_0011689		Supraventricular tachycardia with a concealed accessory connexion
OBO:HP_0011690	Permanent junctional reciprocating tachycardia	biolink:OntologyClass	hp	SNOMEDCT_US:233904005|UMLS:C0340483	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.	http://purl.obolibrary.org/obo/HP_0011690		
OBO:HP_0011691	Supraventricular tachycardia with a concealed accessory pathway on the left free wall	biolink:OntologyClass	hp	UMLS:C4023230		http://purl.obolibrary.org/obo/HP_0011691		
OBO:HP_0011692	Supraventricular tachycardia with a concealed accessory pathway on the right free wall	biolink:OntologyClass	hp	UMLS:C4023229		http://purl.obolibrary.org/obo/HP_0011692		
OBO:HP_0011693	Supraventricular tachycardia with a concealed accessory pathway on the septum	biolink:OntologyClass	hp	UMLS:C4023228		http://purl.obolibrary.org/obo/HP_0011693		
OBO:HP_0011694	Supraventricular tachycardia with a manifest accessory pathway	biolink:OntologyClass	hp	UMLS:C4023227		http://purl.obolibrary.org/obo/HP_0011694		
OBO:HP_0011695	Cerebellar hemorrhage	biolink:OntologyClass	hp	SNOMEDCT_US:75038005|UMLS:C0149854	Hemorrhage into the parenchyma of the cerebellum.	http://purl.obolibrary.org/obo/HP_0011695		Cerebellar haemorrhage
OBO:HP_0011696	Supraventricular tachycardia with a manifest accessory pathway on the left free wall	biolink:OntologyClass	hp	UMLS:C4023226		http://purl.obolibrary.org/obo/HP_0011696		
OBO:HP_0011697	Supraventricular tachycardia with a manifest accessory pathway on the right free wall	biolink:OntologyClass	hp	UMLS:C4023225		http://purl.obolibrary.org/obo/HP_0011697		
OBO:HP_0011698	Supraventricular tachycardia with a manifest accessory pathway on the septum	biolink:OntologyClass	hp	UMLS:C4023224		http://purl.obolibrary.org/obo/HP_0011698		
OBO:HP_0011699	Atrial reentry tachycardia	biolink:OntologyClass	hp	UMLS:C4023223		http://purl.obolibrary.org/obo/HP_0011699		
OBO:HP_0011700	Automatic atrial tachycardia	biolink:OntologyClass	hp	MSH:D013612|SNOMEDCT_US:233892002|UMLS:C0039234	Chronic supraventricular tachycardia predominantly seen in childhood.	http://purl.obolibrary.org/obo/HP_0011700		
OBO:HP_0011701	Multifocal atrial tachycardia	biolink:OntologyClass	hp	SNOMEDCT_US:49982000|UMLS:C0221158	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.	http://purl.obolibrary.org/obo/HP_0011701		Chaotic atrial tachycardia|Ectopic atrial tachycardia
OBO:HP_0011702	Abnormal electrophysiology of sinoatrial node origin	biolink:OntologyClass	hp	Fyler:7010|UMLS:C4023222	An abnormality of the sinoatrial (SA) node in the right atrium. THe SA node acts as the pacemaker of the heart.	http://purl.obolibrary.org/obo/HP_0011702		
OBO:HP_0011703	Sinus tachycardia	biolink:OntologyClass	hp	MSH:D013616|SNOMEDCT_US:11092001|UMLS:C0039239	Heart rate of greater than 100 beats per minute.	http://purl.obolibrary.org/obo/HP_0011703		Sinus tach|Sinus tachy
OBO:HP_0011704	Sick sinus syndrome	biolink:OntologyClass	hp	MSH:D012804|SNOMEDCT_US:36083008|UMLS:C0037052	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.	http://purl.obolibrary.org/obo/HP_0011704		Sinoatrial node disease
OBO:HP_0011705	First degree atrioventricular block	biolink:OntologyClass	hp	SNOMEDCT_US:270492004|UMLS:C0085614	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.	http://purl.obolibrary.org/obo/HP_0011705		
OBO:HP_0011706	Second degree atrioventricular block	biolink:OntologyClass	hp	SNOMEDCT_US:195042002|UMLS:C0264906	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.	http://purl.obolibrary.org/obo/HP_0011706		
OBO:HP_0011707	Mobitz I atrioventricular block	biolink:OntologyClass	hp	SNOMEDCT_US:54016002|UMLS:C0264907	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).	http://purl.obolibrary.org/obo/HP_0011707		Mobitz type 1 atrioventricular block|Wenckebach block
OBO:HP_0011708	Mobitz II atrioventricular block	biolink:OntologyClass	hp	SNOMEDCT_US:28189009|UMLS:C0155700	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.	http://purl.obolibrary.org/obo/HP_0011708		Mobitz type 2 atrioventricular block
OBO:HP_0011709	Atrioventricular dissociation	biolink:OntologyClass	hp	MSH:D006327|SNOMEDCT_US:50799005|UMLS:C0004331	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.	http://purl.obolibrary.org/obo/HP_0011709		
OBO:HP_0011710	Bundle branch block	biolink:OntologyClass	hp	MSH:D002037|SNOMEDCT_US:6374002|UMLS:C0006384	Block of conduction of electrical impulses along the Bundle of His or along one of its bundle branches.	http://purl.obolibrary.org/obo/HP_0011710		Bundle-branch block
OBO:HP_0011711	Left anterior fascicular block	biolink:OntologyClass	hp	SNOMEDCT_US:37760005|UMLS:C0264912	Conduction block in the anterior division of the left bundle branch of the bundle of His.	http://purl.obolibrary.org/obo/HP_0011711		Left anterior hemiblock
OBO:HP_0011712	Right bundle branch block	biolink:OntologyClass	hp	MSH:D002037|SNOMEDCT_US:59118001|UMLS:C0085615	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.	http://purl.obolibrary.org/obo/HP_0011712		Right bundle-branch block
OBO:HP_0011713	Left bundle branch block	biolink:OntologyClass	hp	MSH:D002037|SNOMEDCT_US:63467002|UMLS:C0023211	A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG.	http://purl.obolibrary.org/obo/HP_0011713		
OBO:HP_0011714	Libman-Sacks lesions	biolink:OntologyClass	hp	UMLS:C4023221	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.	http://purl.obolibrary.org/obo/HP_0011714		
OBO:HP_0011715	Trifascicular block	biolink:OntologyClass	hp	SNOMEDCT_US:86014007|UMLS:C0155707	Abnormal conduction in all three divisions of the intraventricular conducting tissue.	http://purl.obolibrary.org/obo/HP_0011715		
OBO:HP_0011716	Junctional ectopic tachycardia	biolink:OntologyClass	hp	MSH:D013613|SNOMEDCT_US:233901002|SNOMEDCT_US:419166005|UMLS:C0039235	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.	http://purl.obolibrary.org/obo/HP_0011716		
OBO:HP_0011717	Atrioventricular reentrant tachycardia	biolink:OntologyClass	hp	UMLS:C4023220	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.	http://purl.obolibrary.org/obo/HP_0011717		AV nodal reentry tachycardia
OBO:HP_0011718	Abnormality of the pulmonary veins	biolink:OntologyClass	hp	SNOMEDCT_US:111322000|SNOMEDCT_US:128585006|SNOMEDCT_US:199113001|UMLS:C0265914	An abnormality of the pulmonary veins.	http://purl.obolibrary.org/obo/HP_0011718		Abnormality of lung veins
OBO:HP_0011719	Supracardiac total anomalous pulmonary venous connection	biolink:OntologyClass	hp	Fyler:0910|Fyler:910|UMLS:C4021131	Type 1 total anomalous pulmonary venous connection.	http://purl.obolibrary.org/obo/HP_0011719		Supracardiac total anomalous pulmonary venous connexion|Total anomalous pulmonary venous connection, supracardiac|Type 1 total anomalous pulmonary venous connection
OBO:HP_0011720	Cardiac total anomalous pulmonary venous connection	biolink:OntologyClass	hp	Fyler:0920|Fyler:0930|Fyler:920|Fyler:930|UMLS:C4021130	Type 2 total anomalous pulmonary venous connection.	http://purl.obolibrary.org/obo/HP_0011720		Cardiac total anomalous pulmonary venous connexion|Total anomalous pulmonary venous connection, intracardiac|Type 2 total anomalous pulmonary venous connection
OBO:HP_0011721	Infracardiac total anomalous pulmonary venous connection	biolink:OntologyClass	hp	UMLS:C4021129	Type 3 total anomalous pulmonary venous connection.	http://purl.obolibrary.org/obo/HP_0011721		Infracardiac total anomalous pulmonary venous connexion|Type 3 total anomalous pulmonary venous connection
OBO:HP_0011722	Mixed total anomalous pulmonary venous connection	biolink:OntologyClass	hp	Fyler:0950|Fyler:950|UMLS:C4021128	Type 4 total anomalous pulmonary venous connection.	http://purl.obolibrary.org/obo/HP_0011722		Mixed total anomalous pulmonary venous connexion|Total anomalous pulmonary venous connection, mixed|Type 4 total anomalous pulmonary venous connection
OBO:HP_0011723	Congenital malformation of the right heart	biolink:OntologyClass	hp	UMLS:C4023219	Defect or defects of the morphogenesis of the right heart identifiable at birth.	http://purl.obolibrary.org/obo/HP_0011723		
OBO:HP_0011724	Uhl's anomaly	biolink:OntologyClass	hp	MSH:C536932|SNOMEDCT_US:2829000|UMLS:C0265857	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.	http://purl.obolibrary.org/obo/HP_0011724		
OBO:HP_0011725	Chaotic multifocal atrial tachycardia	biolink:OntologyClass	hp	UMLS:C4023218		http://purl.obolibrary.org/obo/HP_0011725		
OBO:HP_0011726	Persistent fetal circulation	biolink:OntologyClass	hp	MSH:D010547|SNOMEDCT_US:206597007|SNOMEDCT_US:233815004|SNOMEDCT_US:35604006|UMLS:C0031190	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.	http://purl.obolibrary.org/obo/HP_0011726		Persistent foetal circulation
OBO:HP_0011727	Peroneal muscle weakness	biolink:OntologyClass	hp	UMLS:C0240733	Weakness of the peroneal muscles.	http://purl.obolibrary.org/obo/HP_0011727		Fibularis muscle weakness
OBO:HP_0011728	Elbow clonus	biolink:OntologyClass	hp	UMLS:C4023217	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.	http://purl.obolibrary.org/obo/HP_0011728		
OBO:HP_0011729	Abnormality of joint mobility	biolink:OntologyClass	hp	UMLS:C4023216	An abnormality in the range and ease of motion of joints across their normal range.	http://purl.obolibrary.org/obo/HP_0011729		
OBO:HP_0011730	Abnormal central sensory function	biolink:OntologyClass	hp	UMLS:C4023215	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.	http://purl.obolibrary.org/obo/HP_0011730		Abnormality of central sensory function
OBO:HP_0011731	Abnormality of circulating cortisol level	biolink:OntologyClass	hp	UMLS:C4023214	An abnormality of the concentration of cortisol in the blood.	http://purl.obolibrary.org/obo/HP_0011731		
OBO:HP_0011732	Abnormality of adrenal morphology	biolink:OntologyClass	hp	UMLS:C4023213	Any structural anomaly of the adrenal glands.	http://purl.obolibrary.org/obo/HP_0011732		
OBO:HP_0011733	Abnormality of adrenal physiology	biolink:OntologyClass	hp	UMLS:C4023212	A functional abnormality of the adrenal glands.	http://purl.obolibrary.org/obo/HP_0011733		
OBO:HP_0011734	Central adrenal insufficiency	biolink:OntologyClass	hp	UMLS:C0948387	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.	http://purl.obolibrary.org/obo/HP_0011734		Secondary adrenal insufficiency
OBO:HP_0011735	Adrenocorticotropin deficient adrenal insufficiency	biolink:OntologyClass	hp	UMLS:C4023211	Adrenal insufficiency secondary to a defect in ACTH production.	http://purl.obolibrary.org/obo/HP_0011735		ACTH deficient adrenal insufficiency
OBO:HP_0011736	Primary hyperaldosteronism	biolink:OntologyClass	hp	MSH:D006929|SNOMEDCT_US:190507007|SNOMEDCT_US:258117004|UMLS:C1384514	A form of hyperaldosteronism caused by a defect within the adrenal gland.	http://purl.obolibrary.org/obo/HP_0011736		
OBO:HP_0011737	Corticotropin-releasing hormone deficient adrenal insufficiency	biolink:OntologyClass	hp	UMLS:C4021127	Adrenal insufficiency secondary to a defect in corticotropin-releasing hormone production.	http://purl.obolibrary.org/obo/HP_0011737		CRH deficient adrenal insufficiency|Tertiary adrenal insufficiency
OBO:HP_0011738	Corticotropin-releasing hormone receptor defect	biolink:OntologyClass	hp	UMLS:C4020745|UMLS:C4023210	Adrenal insufficiency secondary to a defect in the corticotropin-releasing hormone receptor.	http://purl.obolibrary.org/obo/HP_0011738		CRHR defect|Corticotropin-releasing hormone receptor (CRHR) resistance
OBO:HP_0011739	Dexamethasone-suppressible primary hyperaldosteronism	biolink:OntologyClass	hp	UMLS:C4020743|UMLS:C4020744|UMLS:C4023209	A form of primary hyperaldosteronism in which the overproduction of aldosterone can be suppressed by the administration of dexamethasone.	http://purl.obolibrary.org/obo/HP_0011739		Familial primary hyperaldosteronism type 1|Glucocorticoid-remediable familial primary aldosteronism
OBO:HP_0011740	Glucocortocoid-insensitive primary hyperaldosteronism	biolink:OntologyClass	hp	UMLS:C4020742|UMLS:C4023208	A form of primary hyperaldosteronism in which the overproduction of aldosterone cannot be suppressed by the administration of dexamethasone or similar glucocorticoids.	http://purl.obolibrary.org/obo/HP_0011740		Familial primary hyperaldosteronism type 2
OBO:HP_0011741	Secondary hyperaldosteronism	biolink:OntologyClass	hp	SNOMEDCT_US:67805000|UMLS:C0271728	A form of hyperaldosteronism caused by abnormally increased renin levels.	http://purl.obolibrary.org/obo/HP_0011741		Hyperreninemic hyperaldosteronism
OBO:HP_0011742	Ectopic adrenal gland	biolink:OntologyClass	hp	SNOMEDCT_US:49494003|UMLS:C0266275	Abnormal anatomical location of the adrenal gland.	http://purl.obolibrary.org/obo/HP_0011742		Abnormal adrenal gland position
OBO:HP_0011743	Adrenal gland agenesis	biolink:OntologyClass	hp	MSH:C538429|SNOMEDCT_US:702615004|SNOMEDCT_US:83190008|UMLS:C0266273	Absent development of the adrenal gland.	http://purl.obolibrary.org/obo/HP_0011743		
OBO:HP_0011744	Secondary hypercortisolism	biolink:OntologyClass	hp	UMLS:C4020741|UMLS:C4023207	Hypercortisolemia associated with a overproduction of ACTH (often from a tumor), leading secondarily to overproduction of cortisol.	http://purl.obolibrary.org/obo/HP_0011744		ACTH-dependent hypercortisolemia
OBO:HP_0011745	Non-secretory adrenocortical adenoma	biolink:OntologyClass	hp	UMLS:C4021126	An hormonally inactive adrenocortical adenoma, that is, an adenoma that does not secrete excessive amounts of adrenal hormones.	http://purl.obolibrary.org/obo/HP_0011745		Non-secretory adrenal adenoma
OBO:HP_0011746	Secretory adrenocortical adenoma	biolink:OntologyClass	hp	UMLS:C4021125	An hormonally active adrenocortical adenoma, that is, an adenoma that secretes excessive amounts of adrenal hormones.	http://purl.obolibrary.org/obo/HP_0011746		Secretory adrenal adenoma
OBO:HP_0011747	Abnormality of the anterior pituitary	biolink:OntologyClass	hp	MSH:D010900|SNOMEDCT_US:399244003|UMLS:C0032002|UMLS:C4023206	An abnormality of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland.	http://purl.obolibrary.org/obo/HP_0011747		Pituitary disease
OBO:HP_0011748	Adrenocorticotropic hormone deficiency	biolink:OntologyClass	hp	MSH:C535668|SNOMEDCT_US:237692001|UMLS:C0342388	A reduced ability to secrete adrenocorticotropic hormone (ACTH), a hormone that stimulates the adrenal cortex to secrete of glucocorticoids such as cortisol.	http://purl.obolibrary.org/obo/HP_0011748		ACTH deficiency|Corticotropin deficiency
OBO:HP_0011749	Adrenocorticotropic hormone excess	biolink:OntologyClass	hp	UMLS:C4021124	Overproduction of adrenocorticotropic hormone (ACTH), which generally leads secondarily to overproduction of cortisol by the adrenal cortex.	http://purl.obolibrary.org/obo/HP_0011749		ACTH excess
OBO:HP_0011750	Neoplasm of the anterior pituitary	biolink:OntologyClass	hp	NCIT:C3262|UMLS:C4023205	A tumor (abnormal growth of tissue) of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland.	http://purl.obolibrary.org/obo/HP_0011750		Neoplasm of the adenohypophysis|Neoplasm of the pars anterior
OBO:HP_0011751	Abnormality of the posterior pituitary	biolink:OntologyClass	hp	UMLS:C4023204	An abnormality of the neurohypophysis, which is also known as the posterior lobe of the hypophysis.	http://purl.obolibrary.org/obo/HP_0011751		Abnormality of the neurohypophysis
OBO:HP_0011752	Neoplasm of the posterior pituitary	biolink:OntologyClass	hp	NCIT:C3262|UMLS:C1334957	The presence of a neoplasm (tumour) in the neurohypophysis, which is also known as the posterior lobe of the hypophysis.	http://purl.obolibrary.org/obo/HP_0011752		Neoplasm of the neurohypophysis
OBO:HP_0011753	Posterior pituitary dysgenesis	biolink:OntologyClass	hp	UMLS:C4021123	Abnormal development of the neurohypophysis during embryonic growth and development.	http://purl.obolibrary.org/obo/HP_0011753		Neurohypophysis dysplasia|Posterior pituitary dysplasia
OBO:HP_0011754	Pituicytoma	biolink:OntologyClass	hp	ICD-O:9432/1|SNOMEDCT_US:450901008|SNOMEDCT_US:608817003|UMLS:C2986550	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.	http://purl.obolibrary.org/obo/HP_0011754		
OBO:HP_0011755	Ectopic posterior pituitary	biolink:OntologyClass	hp	SNOMEDCT_US:715727009|UMLS:C3279571|UMLS:C4053775	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.	http://purl.obolibrary.org/obo/HP_0011755		Ectopic neurohypophysis
OBO:HP_0011756	Posterior pituitary agenesis	biolink:OntologyClass	hp	UMLS:C4023203	Absence of the neurohypophysis owing to a developmental defect.	http://purl.obolibrary.org/obo/HP_0011756		Neurohypophysis agenesis
OBO:HP_0011757	Posterior pituitary hypoplasia	biolink:OntologyClass	hp	UMLS:C4023202	Underdevelopment of the neurohypophysis.	http://purl.obolibrary.org/obo/HP_0011757		Neurohypophysis hypoplasia
OBO:HP_0011758	Pituitary acidophilic stem cell adenoma	biolink:OntologyClass	hp	UMLS:C4023201		http://purl.obolibrary.org/obo/HP_0011758		
OBO:HP_0011759	Pituitary gonadotropic cell adenoma	biolink:OntologyClass	hp	UMLS:C4021122	A type of pituitary adenoma that produces gonadotropins.	http://purl.obolibrary.org/obo/HP_0011759		Pituitary gonadotropinoma
OBO:HP_0011760	Pituitary growth hormone cell adenoma	biolink:OntologyClass	hp	UMLS:C4018860	A type of pituitary adenoma that produces growth hormone.	http://purl.obolibrary.org/obo/HP_0011760		Pituitary somatotropinoma
OBO:HP_0011761	Pituitary null cell adenoma	biolink:OntologyClass	hp	SNOMEDCT_US:254962005|UMLS:C0338078	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.	http://purl.obolibrary.org/obo/HP_0011761		Clinically silent pituitary adenoma|Hormonally silent pituitary adenoma|Non-functional pituitary adenoma|Silent pituitary adenoma
OBO:HP_0011762	Pituitary thyrotropic cell adenoma	biolink:OntologyClass	hp	UMLS:C4021121	A type of pituitary adenoma that produces thyroid stimulating hormone (TSH).	http://purl.obolibrary.org/obo/HP_0011762		Pituitary thyrotropinoma
OBO:HP_0011763	Pituitary carcinoma	biolink:OntologyClass	hp	MSH:D010911|SNOMEDCT_US:128665000|SNOMEDCT_US:254955001|UMLS:C0346300	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.	http://purl.obolibrary.org/obo/HP_0011763		
OBO:HP_0011764	Pituitary spindle cell oncocytoma	biolink:OntologyClass	hp	UMLS:C4023200	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.	http://purl.obolibrary.org/obo/HP_0011764		
OBO:HP_0011765	obsolete Ectopic anterior pituitary	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0011765		
OBO:HP_0011766	Abnormality of the parathyroid morphology	biolink:OntologyClass	hp	UMLS:C4023199	A structural abnormality of the parathyroid gland.	http://purl.obolibrary.org/obo/HP_0011766		
OBO:HP_0011767	Abnormality of the parathyroid physiology	biolink:OntologyClass	hp	UMLS:C4023198	A functional abnormality of the parathyroid gland.	http://purl.obolibrary.org/obo/HP_0011767		Parathyroid issue|Parathyroid dysfunction
OBO:HP_0011768	Parathyroid dysgenesis	biolink:OntologyClass	hp	UMLS:C4023197	Abnormal embryonic development of the parathyroid gland.	http://purl.obolibrary.org/obo/HP_0011768		
OBO:HP_0011769	Ectopic parathyroid	biolink:OntologyClass	hp	UMLS:C4023196	An abnormal anatomical location of the parathyroid gland.	http://purl.obolibrary.org/obo/HP_0011769		
OBO:HP_0011770	Tertiary hyperparathyroidism	biolink:OntologyClass	hp	SNOMEDCT_US:78200003|UMLS:C0271858	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.	http://purl.obolibrary.org/obo/HP_0011770		
OBO:HP_0011771	Autoimmune hypoparathyroidism	biolink:OntologyClass	hp	SNOMEDCT_US:75316000|UMLS:C0271865	A type of hypoparathyroidism with circulating antiparathyroid or anti-calcium sensing receptor antibodies indicative of autoimmunity.	http://purl.obolibrary.org/obo/HP_0011771		
OBO:HP_0011772	Abnormal thyroid morphology	biolink:OntologyClass	hp	UMLS:C4023195	A structural abnormality of the thyroid gland.	http://purl.obolibrary.org/obo/HP_0011772		Abnormal shape of thyroid gland|Abnormality of thyroid morphology
OBO:HP_0011773	Uninodular goiter	biolink:OntologyClass	hp	SNOMEDCT_US:237569006|UMLS:C0342205	Enlargement of the thyroid gland related to a singular nodule in the thyroid gland.	http://purl.obolibrary.org/obo/HP_0011773		Uninodular goitre
OBO:HP_0011774	Thyroid follicular adenoma	biolink:OntologyClass	hp	MSH:D013964|SNOMEDCT_US:255033000|SNOMEDCT_US:255034006|UMLS:C0151468		http://purl.obolibrary.org/obo/HP_0011774		
OBO:HP_0011775	Thyroid macrofollicular adenoma	biolink:OntologyClass	hp	UMLS:C4023194		http://purl.obolibrary.org/obo/HP_0011775		
OBO:HP_0011776	Thyroid microfollicular adenoma	biolink:OntologyClass	hp	UMLS:C4023193		http://purl.obolibrary.org/obo/HP_0011776		
OBO:HP_0011777	Thyroid papillary adenoma	biolink:OntologyClass	hp	UMLS:C4023192		http://purl.obolibrary.org/obo/HP_0011777		
OBO:HP_0011778	Thyroid atypical adenoma	biolink:OntologyClass	hp	UMLS:C4023191		http://purl.obolibrary.org/obo/HP_0011778		
OBO:HP_0011779	Anaplastic thyroid carcinoma	biolink:OntologyClass	hp	MSH:D065646|SNOMEDCT_US:255031003|UMLS:C0238461		http://purl.obolibrary.org/obo/HP_0011779		
OBO:HP_0011780	Thyroid hemiagenesis	biolink:OntologyClass	hp	SNOMEDCT_US:715734006|UMLS:C4023190	Absence of a lobe of the thyroid gland related to a failure of its embryologic development.	http://purl.obolibrary.org/obo/HP_0011780		
OBO:HP_0011781	Thyroid C cell hyperplasia	biolink:OntologyClass	hp	SNOMEDCT_US:237552009|UMLS:C0342190	An abnormal growth of parafollicular (C-cells) cells.	http://purl.obolibrary.org/obo/HP_0011781		
OBO:HP_0011782	Thyroid crisis	biolink:OntologyClass	hp	MSH:D013958|SNOMEDCT_US:29028009|UMLS:C0040127		http://purl.obolibrary.org/obo/HP_0011782		
OBO:HP_0011783	Thyrotoxicosis from ectopic thyroid tissue	biolink:OntologyClass	hp	SNOMEDCT_US:87232008|UMLS:C0154148		http://purl.obolibrary.org/obo/HP_0011783		
OBO:HP_0011784	Thyrotoxicosis with diffuse goiter	biolink:OntologyClass	hp	SNOMEDCT_US:267374005|UMLS:C0342122		http://purl.obolibrary.org/obo/HP_0011784		Thyrotoxicosis with diffuse goitre
OBO:HP_0011785	Thyrotoxicosis with toxic multinodular goiter	biolink:OntologyClass	hp	SNOMEDCT_US:26389007|UMLS:C0154143		http://purl.obolibrary.org/obo/HP_0011785		Thyrotoxicosis with toxic multinodular goitre
OBO:HP_0011786	Thyrotoxicosis with toxic single thyroid nodule	biolink:OntologyClass	hp	SNOMEDCT_US:69329005|SNOMEDCT_US:73869005|UMLS:C0154141		http://purl.obolibrary.org/obo/HP_0011786		
OBO:HP_0011787	Central hypothyroidism	biolink:OntologyClass	hp	SNOMEDCT_US:26692000|UMLS:C0271801	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.	http://purl.obolibrary.org/obo/HP_0011787		
OBO:HP_0011788	Increased circulating free T3	biolink:OntologyClass	hp	UMLS:C4021843	An elevated concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation.	http://purl.obolibrary.org/obo/HP_0011788		Increased serum fT3|Increased circulating free triiodothyronine|Increased serum free T3|Increased serum free triiodothyronine
OBO:HP_0011789	Impaired sensitivity to thyroid stimulating hormone	biolink:OntologyClass	hp	UMLS:C4023189	Reduced sensitivity of thyroid follicle cells to stimulation by biologically active thyroid-stimulating hormone (TSH).	http://purl.obolibrary.org/obo/HP_0011789		TSHR defect|Thyroid-stimulating hormone receptor defect
OBO:HP_0011790	Activating thyroid-stimulating hormone receptor defect	biolink:OntologyClass	hp	UMLS:C4023188	Gain-of-function thyroid-stimulating hormone receptor (TSHR) defect.	http://purl.obolibrary.org/obo/HP_0011790		Activating TSHR defect
OBO:HP_0011791	Inactivating thyroid-stimulating hormone receptor defect	biolink:OntologyClass	hp	UMLS:C4023187	Loss-of-function thyroid-stimulating hormone receptor (TSHR) defect.	http://purl.obolibrary.org/obo/HP_0011791		Inactivating TSHR defect
OBO:HP_0011792	Neoplasm by histology	biolink:OntologyClass	hp	UMLS:C4023186	Neoplasm categorized according to type of histological abnormality.	http://purl.obolibrary.org/obo/HP_0011792		
OBO:HP_0011793	Neoplasm by anatomical site	biolink:OntologyClass	hp	UMLS:C4023185	Neoplasm categorized according to the anatomical site of origin of the neoplasm.	http://purl.obolibrary.org/obo/HP_0011793		
OBO:HP_0011794	Embryonal renal neoplasm	biolink:OntologyClass	hp	UMLS:C4023184	The presence of an embryonal neoplasm of the kidney that primarily affects children.	http://purl.obolibrary.org/obo/HP_0011794		
OBO:HP_0011795	Intralobar nephroblastomatosis	biolink:OntologyClass	hp	SNOMEDCT_US:405934001|UMLS:C1319016	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).	http://purl.obolibrary.org/obo/HP_0011795		
OBO:HP_0011796	Perilobar nephroblastomatosis	biolink:OntologyClass	hp	SNOMEDCT_US:405935000|UMLS:C1319017	Abnormally persistent foci of embryonal immature blastema located in the superficial cortical region (perilobar).	http://purl.obolibrary.org/obo/HP_0011796		
OBO:HP_0011797	Papillary renal cell carcinoma type 1	biolink:OntologyClass	hp	UMLS:C1336839	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.	http://purl.obolibrary.org/obo/HP_0011797		
OBO:HP_0011798	Renal oncocytoma	biolink:OntologyClass	hp	MSH:C537750|SNOMEDCT_US:254922006|UMLS:C0346255	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.	http://purl.obolibrary.org/obo/HP_0011798		
OBO:HP_0011799	Abnormality of facial soft tissue	biolink:OntologyClass	hp	UMLS:C4023183		http://purl.obolibrary.org/obo/HP_0011799		Abnormality of facial soft tissue|Anomaly of facial soft tissue|Deformity of facial soft tissue|Malformation of facial soft tissue
OBO:HP_0011800	Midface retrusion	biolink:OntologyClass	hp	UMLS:C1853242|UMLS:C2673410|UMLS:C4280320|UMLS:C4280321	Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.	http://purl.obolibrary.org/obo/HP_0011800	hposlim_core	Small midface|Decreased size of midface|Midface deficiency|Midface retrusion|Underdevelopment of midface|Decreased projection of midface|Flat midface|Hypoplasia of midface|Midface hypoplasia|Midface, flat|Retrusive midface|Hypotrophic midface
OBO:HP_0011801	Enlargement of parotid gland	biolink:OntologyClass	hp	SNOMEDCT_US:29748005|UMLS:C0341047	Increased size of the parotid gland.	http://purl.obolibrary.org/obo/HP_0011801		Hyperplasia of parotid gland|Increased size of parotid gland|Hypertrophy of parotid gland
OBO:HP_0011802	Hamartoma of tongue	biolink:OntologyClass	hp	SNOMEDCT_US:253753005|UMLS:C0431565	A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue.	http://purl.obolibrary.org/obo/HP_0011802		Lingual hamartoma
OBO:HP_0011803	Bifid nose	biolink:OntologyClass	hp	MSH:C535441|SNOMEDCT_US:204521002|UMLS:C0221363|UMLS:C4280318|UMLS:C4280319	Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip.	http://purl.obolibrary.org/obo/HP_0011803	hposlim_core	Indentation or clefting of the nose|Cleft nasal bridge|Cleft nose|Indented bridge of nose|Bifid nasal bridge
OBO:HP_0011804	Abnormal muscle physiology	biolink:OntologyClass	hp	UMLS:C4023182	A functional abnormality of a skeletal muscle.	http://purl.obolibrary.org/obo/HP_0011804		Issue with muscle function|Abnormality of muscle physiology
OBO:HP_0011805	Abnormal skeletal muscle morphology	biolink:OntologyClass	hp	UMLS:C4023181	A structural abnormality of a skeletal muscle.	http://purl.obolibrary.org/obo/HP_0011805		Abnormally shaped muscle|Issue with muscle structure|Abnormal muscle morphology|Abnormality of muscle morphology
OBO:HP_0011807	Type 1 muscle fiber atrophy	biolink:OntologyClass	hp	UMLS:C4023180	Atrophy (wasting) affecting primary type 1 muscle fibers. This feature in general can only be observed on muscle biopsy.	http://purl.obolibrary.org/obo/HP_0011807		Type 1 muscle fibre atrophy
OBO:HP_0011808	Decreased patellar reflex	biolink:OntologyClass	hp	UMLS:C3277184	Decreased intensity of the patellar reflex (also known as the knee jerk reflex).	http://purl.obolibrary.org/obo/HP_0011808		Decreased knee jerk reflex|Decreased patellar reflexes
OBO:HP_0011809	Paradoxical myotonia	biolink:OntologyClass	hp	UMLS:C4023179	A type of myotonia that worsens with repeated muscle contractions.	http://purl.obolibrary.org/obo/HP_0011809		
OBO:HP_0011810	Impaired two-point discrimination	biolink:OntologyClass	hp	UMLS:C4023178	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.	http://purl.obolibrary.org/obo/HP_0011810		
OBO:HP_0011811	Impaired touch localization	biolink:OntologyClass	hp	UMLS:C4021120	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.	http://purl.obolibrary.org/obo/HP_0011811		Impaired touch localisation|Impaired topognosis
OBO:HP_0011812	Agraphesthesia	biolink:OntologyClass	hp	UMLS:C1328618	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).	http://purl.obolibrary.org/obo/HP_0011812		
OBO:HP_0011813	Increased cerebral lipofuscin	biolink:OntologyClass	hp	UMLS:C4023177	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.	http://purl.obolibrary.org/obo/HP_0011813		
OBO:HP_0011814	Increased urinary hypoxanthine	biolink:OntologyClass	hp	UMLS:C3810487	An increased level of hypoxanthine in the urine.	http://purl.obolibrary.org/obo/HP_0011814		
OBO:HP_0011815	Cephalocele	biolink:OntologyClass	hp	MSH:D004677|SNOMEDCT_US:253101008|SNOMEDCT_US:48777005|SNOMEDCT_US:55999004|UMLS:C0014065	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.	http://purl.obolibrary.org/obo/HP_0011815		
OBO:HP_0011816	Parietal encephalocele	biolink:OntologyClass	hp	SNOMEDCT_US:253109005|UMLS:C0431294	An encephalocele located between bregma and lambda.	http://purl.obolibrary.org/obo/HP_0011816		
OBO:HP_0011817	Basal encephalocele	biolink:OntologyClass	hp	UMLS:C4023176	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.	http://purl.obolibrary.org/obo/HP_0011817		
OBO:HP_0011818	Nasofrontal encephalocele	biolink:OntologyClass	hp	SNOMEDCT_US:253106003|UMLS:C0431291		http://purl.obolibrary.org/obo/HP_0011818		Naso-frontal encephalocele
OBO:HP_0011819	Submucous cleft soft palate	biolink:OntologyClass	hp	UMLS:C4023175	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.	http://purl.obolibrary.org/obo/HP_0011819	hposlim_core	Partial thickness cleft soft palate|Submucous cleft velum
OBO:HP_0011820	Membranous choanal atresia	biolink:OntologyClass	hp	UMLS:C4023174	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.	http://purl.obolibrary.org/obo/HP_0011820		
OBO:HP_0011821	Abnormality of facial skeleton	biolink:OntologyClass	hp	SNOMEDCT_US:433096001|UMLS:C2315229	An abnormality of one or more of the set of bones that make up the facial skeleton.	http://purl.obolibrary.org/obo/HP_0011821		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
OBO:HP_0011822	Broad chin	biolink:OntologyClass	hp	UMLS:C4023172	Increased width of the midpoint of the mandible (mental protuberance) and overlying soft tissue.	http://purl.obolibrary.org/obo/HP_0011822	hposlim_core	Broad chin|Increased width of chin|Wide chin|Increased width of menton region
OBO:HP_0011823	Chin with horizontal crease	biolink:OntologyClass	hp	UMLS:C4023171	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.	http://purl.obolibrary.org/obo/HP_0011823		Chin with horizontal crease|Chin with horizontal groove|Horizontal chin skin cleft|Chin with horizontal furrow|Chin with horizontal sulcus|Horizontal menton crease
OBO:HP_0011824	Chin with H-shaped crease	biolink:OntologyClass	hp	UMLS:C1860309	H-shaped crease in the fat pad of the chin.	http://purl.obolibrary.org/obo/HP_0011824		Chin with H-shaped crease|Chin, H-Shaped Crease|Chin, H-shaped groove|H-shaped dimple of the chin
OBO:HP_0011825	Tented philtrum	biolink:OntologyClass	hp	UMLS:C4021119	Prominence of a triangular soft tissue area of the philtrum with the apex to the columella.	http://purl.obolibrary.org/obo/HP_0011825	hposlim_core	Philtrum, Tented
OBO:HP_0011826	Philtrum with midline raphe	biolink:OntologyClass	hp	UMLS:C4021118	Narrow ridge in the midline of the philtral groove.	http://purl.obolibrary.org/obo/HP_0011826	hposlim_core	Philtrum with central raphe|Philtrum with midline ridge|Philtrum, midline raphe
OBO:HP_0011827	Malaligned philtral ridges	biolink:OntologyClass	hp	UMLS:C4021117	Absence of the usual parallel position of philtral ridges.	http://purl.obolibrary.org/obo/HP_0011827	hposlim_core	Asymmetric philtral columns|Asymmetric philtral ridges|Malaligned philtral columns|Philtral Ridges, Malaligned
OBO:HP_0011828	Midline sinus of philtrum	biolink:OntologyClass	hp	UMLS:C4021116	Pit in the midline of the philtral groove.	http://purl.obolibrary.org/obo/HP_0011828	hposlim_core	Central sinus of philtrum|Philtrum, Midline Sinus
OBO:HP_0011829	Narrow philtrum	biolink:OntologyClass	hp	UMLS:C4021115	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.	http://purl.obolibrary.org/obo/HP_0011829	hposlim_core	Decreased breadth of philtrum|Decreased horizontal dimension of philtrum|Decreased transverse dimension of philtrum|Decreased width of philtrum|Philtrum, Narrow|Thin philtrum
OBO:HP_0011830	Abnormal oral mucosa morphology	biolink:OntologyClass	hp	UMLS:C4023170	Abnormality of the oral mucosa.	http://purl.obolibrary.org/obo/HP_0011830	hposlim_core	Abnormality of lining of mouth|Abnormality of mucosa of mouth|Abnormality of oral mucosa|Abnormality of oral mucous membrane
OBO:HP_0011831	Deviated nasal tip	biolink:OntologyClass	hp	UMLS:C4021114|UMLS:C4280271	Nasal tip positioned to one side of the midline.	http://purl.obolibrary.org/obo/HP_0011831		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
OBO:HP_0011832	Narrow nasal tip	biolink:OntologyClass	hp	SNOMEDCT_US:249331008|UMLS:C0426433	Decrease in width of the nasal tip.	http://purl.obolibrary.org/obo/HP_0011832	hposlim_core	Narrow nasal tip|Narrow tip of nose|Nasal tip, narrow|Nasal tip, pinched|Pinched nasal tip|Pinched tip of nose|Thin nasal tip|Thin tip of nose
OBO:HP_0011833	Overhanging nasal tip	biolink:OntologyClass	hp	SNOMEDCT_US:249328007|UMLS:C0426430	Positioning of the nasal tip inferior to the nasal base.	http://purl.obolibrary.org/obo/HP_0011833	hposlim_core	Drooping nasal tip|Hooked tip of nose|Low hanging nasal tip|Nasal tip, overhanging|Overhanging nasal tip
OBO:HP_0011834	Moyamoya phenomenon	biolink:OntologyClass	hp	UMLS:C4023169	A noninflammatory, progressive occlusion of the intracranial carotid arteries owing to the formation of netlike collateral arteries arising from the circle of Willis.	http://purl.obolibrary.org/obo/HP_0011834		
OBO:HP_0011835	Absent scaphoid	biolink:OntologyClass	hp	UMLS:C1847189	Congenital absence of the scaphoid..	http://purl.obolibrary.org/obo/HP_0011835		Missing scaphoid bone|Absent scaphoid bone
OBO:HP_0011836	Delayed talus ossification	biolink:OntologyClass	hp	UMLS:C4023168	Delayed maturation and calcification of the talus.	http://purl.obolibrary.org/obo/HP_0011836		
OBO:HP_0011837	Partial IgA deficiency	biolink:OntologyClass	hp	UMLS:C4023167	Detectable but decreased IgA levels that are more than 2 standard deviations below normal age-adjusted means.	http://purl.obolibrary.org/obo/HP_0011837		
OBO:HP_0011838	Sclerodactyly	biolink:OntologyClass	hp	ICD-10:L94.3|SNOMEDCT_US:201051000|SNOMEDCT_US:298285004|UMLS:C0150988	Localized thickening and tightness of the skin of the fingers or toes.	http://purl.obolibrary.org/obo/HP_0011838		
OBO:HP_0011839	Abnormal T cell count	biolink:OntologyClass	hp	UMLS:C4021113	A deviation from the normal count of T cells.	http://purl.obolibrary.org/obo/HP_0011839		Abnormal number of T cells|Abnormality of T cell number
OBO:HP_0011840	Abnormality of T cell physiology	biolink:OntologyClass	hp	UMLS:C4023166	A functional anomaly of T cells.	http://purl.obolibrary.org/obo/HP_0011840		
OBO:HP_0011841	Ventricular flutter	biolink:OntologyClass	hp	MSH:D054141|SNOMEDCT_US:111288001|UMLS:C0152173	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.	http://purl.obolibrary.org/obo/HP_0011841		
OBO:HP_0011842	Abnormality of skeletal morphology	biolink:OntologyClass	hp	UMLS:C4023165	An abnormality of the form, structure, or size of the skeletal system.	http://purl.obolibrary.org/obo/HP_0011842		Abnormally shaped skeletal
OBO:HP_0011843	Abnormality of musculoskeletal physiology	biolink:OntologyClass	hp	UMLS:C4023164	An abnormality of the function of the skeletal system.	http://purl.obolibrary.org/obo/HP_0011843		
OBO:HP_0011844	Abnormal appendicular skeleton morphology	biolink:OntologyClass	hp	UMLS:C4023163	An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles.	http://purl.obolibrary.org/obo/HP_0011844		
OBO:HP_0011845	Short second metatarsal	biolink:OntologyClass	hp	UMLS:C4023162	Short (hypoplastic) second metatarsal bone.	http://purl.obolibrary.org/obo/HP_0011845		Short 2nd long bone of foot
OBO:HP_0011846	Osteoblastoma	biolink:OntologyClass	hp	MSH:D018215|SNOMEDCT_US:55333008|UMLS:C0029417	A benign, painful, tumor of bone characterized by the formation of osteoid tissue, primitive bone and calcified tissue.	http://purl.obolibrary.org/obo/HP_0011846		
OBO:HP_0011847	Giant cell tumor of bone	biolink:OntologyClass	hp	MSH:D018212|SNOMEDCT_US:57500000|SNOMEDCT_US:697970009|UMLS:C0206638	A bone tumor composed of cellular spindle-cell stroma containing scattered multinucleated giant cells resembling osteoclasts.	http://purl.obolibrary.org/obo/HP_0011847		Giant cell tumour of bone
OBO:HP_0011848	Abdominal colic	biolink:OntologyClass	hp	MSH:D003085|SNOMEDCT_US:9991008|UMLS:C0232488	A type of abdominal pain that comes and goes in waves, most often starting and ending suddenly and being of severe intensity.	http://purl.obolibrary.org/obo/HP_0011848		
OBO:HP_0011849	Abnormal bone ossification	biolink:OntologyClass	hp	MP:0008271|UMLS:C4023161|UMLS:C4280317	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.	http://purl.obolibrary.org/obo/HP_0011849		Abnormal bone maturation
OBO:HP_0011850	Parotitis	biolink:OntologyClass	hp	MSH:D010309|SNOMEDCT_US:14756005|UMLS:C0030583	Inflammation of the parotid gland.	http://purl.obolibrary.org/obo/HP_0011850		
OBO:HP_0011851	Hemopericardium	biolink:OntologyClass	hp	MSH:D010490|SNOMEDCT_US:23412002|UMLS:C0019064	Accumulation of blood within the pericardial sac.	http://purl.obolibrary.org/obo/HP_0011851		
OBO:HP_0011852	Chylopericardium	biolink:OntologyClass	hp	MSH:D010490|SNOMEDCT_US:233890005|UMLS:C0242426	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.	http://purl.obolibrary.org/obo/HP_0011852		
OBO:HP_0011853	Serous pericardial effusion	biolink:OntologyClass	hp	UMLS:C4023160	Accumulation of serous fluid (pale yellow and transparent fluid) in the pericardial sac.	http://purl.obolibrary.org/obo/HP_0011853		
OBO:HP_0011854	Hemoperitoneum	biolink:OntologyClass	hp	MSH:D006465|SNOMEDCT_US:443826006|SNOMEDCT_US:45626005|UMLS:C0019065|UMLS:C0744735	Accumulation of blood in the peritoneal cavity owing to internal hemorrhage.	http://purl.obolibrary.org/obo/HP_0011854		Hematoperitoneum
OBO:HP_0011855	Pharyngeal edema	biolink:OntologyClass	hp	SNOMEDCT_US:2129002|UMLS:C0236024	Abnormal accumulation of fluid leading to swelling of the pharynx.	http://purl.obolibrary.org/obo/HP_0011855		Throat swelling|Pharyngeal oedema|Swollen throat
OBO:HP_0011856	Pica	biolink:OntologyClass	hp	MSH:D010842|SNOMEDCT_US:14077003|UMLS:C0031873	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.	http://purl.obolibrary.org/obo/HP_0011856		
OBO:HP_0011857	Plasmacytoma	biolink:OntologyClass	hp	MSH:D010954|SNOMEDCT_US:10639003|SNOMEDCT_US:415112005|UMLS:C0032131	A discrete mass of neoplastic monoclonal plasma cells either in the bone marrow or in an extramedullary location.	http://purl.obolibrary.org/obo/HP_0011857		
OBO:HP_0011858	Reduced factor IX activity	biolink:OntologyClass	hp	UMLS:C4023159	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.	http://purl.obolibrary.org/obo/HP_0011858		Low factor IX activity
OBO:HP_0011859	Punctate keratitis	biolink:OntologyClass	hp	SNOMEDCT_US:416300008|UMLS:C1562761	A type of keratitis characterized by inflammation in pinpoint areas of the corneal epithelium.	http://purl.obolibrary.org/obo/HP_0011859		
OBO:HP_0011860	Metaphyseal dappling	biolink:OntologyClass	hp	UMLS:C4020907	The presence of spots or rounded patches of abnormally increased density of metaphyseal bone.	http://purl.obolibrary.org/obo/HP_0011860		Dappled metaphyseal sclerosis
OBO:HP_0011861	Bilateral trilobed lungs	biolink:OntologyClass	hp	SNOMEDCT_US:448648001|UMLS:C3164377	Both lungs have three lobes. Normally, the left lung has two lobes, whereas the right lung has three lobes.	http://purl.obolibrary.org/obo/HP_0011861		
OBO:HP_0011862	Abnormal bone collagen fibril morphology	biolink:OntologyClass	hp	UMLS:C4023158	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.	http://purl.obolibrary.org/obo/HP_0011862		
OBO:HP_0011863	Abnormal sternal ossification	biolink:OntologyClass	hp	UMLS:C1860243	Any anomaly in the formation of the bony substance of the sternum.	http://purl.obolibrary.org/obo/HP_0011863		Abnormal maturation of breastbone|Sternal ossification center abnormalities
OBO:HP_0011864	Elevated plasma pyrophosphate	biolink:OntologyClass	hp	UMLS:C4023157	An abnormally increased diphosphate(4-) concentration in the blood. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate.	http://purl.obolibrary.org/obo/HP_0011864		
OBO:HP_0011867	Abnormality of the wing of the ilium	biolink:OntologyClass	hp	UMLS:C4023156	An anomaly of the ilium ala. This is the large expanded portion of the ilum which bounds the greater pelvis laterally.	http://purl.obolibrary.org/obo/HP_0011867		
OBO:HP_0011868	Sciatica	biolink:OntologyClass	hp	MSH:D012585|SNOMEDCT_US:23056005|UMLS:C0036396	Pain in the lower back and hip radiating in the distribution of the sciatic nerve.	http://purl.obolibrary.org/obo/HP_0011868		
OBO:HP_0011869	Abnormal platelet function	biolink:OntologyClass	hp	UMLS:C0855740	Any anomaly in the function of thrombocytes.	http://purl.obolibrary.org/obo/HP_0011869		
OBO:HP_0011870	Impaired arachidonic acid-induced platelet aggregation	biolink:OntologyClass	hp	UMLS:C4023155	Abnormal response to arachidonic acid as manifested by reduced or lacking aggregation of platelets upon addition of arachidonic acid.	http://purl.obolibrary.org/obo/HP_0011870		
OBO:HP_0011871	Impaired ristocetin-induced platelet aggregation	biolink:OntologyClass	hp	UMLS:C4023154	Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin.	http://purl.obolibrary.org/obo/HP_0011871		
OBO:HP_0011872	Impaired thrombin-induced platelet aggregation	biolink:OntologyClass	hp	UMLS:C4023153	Abnormal response to thrombin or thrombin mimetics as manifested by reduced or lacking aggregation of platelets upon addition of thrombin (or thrombin mimetics).	http://purl.obolibrary.org/obo/HP_0011872		
OBO:HP_0011873	Abnormal platelet count	biolink:OntologyClass	hp	SNOMEDCT_US:165558001|UMLS:C0580317	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.	http://purl.obolibrary.org/obo/HP_0011873		
OBO:HP_0011874	Heparin-induced thrombocytopenia	biolink:OntologyClass	hp	SNOMEDCT_US:73397007|UMLS:C0272285	Low platelet count following administration of unfractionated or (less commonly) low-molecular weight heparin.	http://purl.obolibrary.org/obo/HP_0011874		
OBO:HP_0011875	Abnormal platelet morphology	biolink:OntologyClass	hp	UMLS:C0855742	An anomaly in platelet form, ultrastructure, or intracellular organelles.	http://purl.obolibrary.org/obo/HP_0011875		Abnormal shape of platelets
OBO:HP_0011876	Abnormal platelet volume	biolink:OntologyClass	hp	UMLS:C4023152	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.	http://purl.obolibrary.org/obo/HP_0011876		
OBO:HP_0011877	Increased mean platelet volume	biolink:OntologyClass	hp	UMLS:C1096367	Average platelet volume above the upper limit of the normal reference interval.	http://purl.obolibrary.org/obo/HP_0011877		Large platelets
OBO:HP_0011878	Abnormal platelet membrane protein expression	biolink:OntologyClass	hp	UMLS:C4023151	Presence of reduced amount of a membrane protein on the cell membrane of platelets. This feature is typically measured by flow cytometry.	http://purl.obolibrary.org/obo/HP_0011878		
OBO:HP_0011879	Decreased platelet glycoprotein Ib-IX-V	biolink:OntologyClass	hp	UMLS:C4023150	Decreased cell membrane concentration of the glycoprotein complex Ib-IX-V.	http://purl.obolibrary.org/obo/HP_0011879		
OBO:HP_0011880	Acute disseminated intravascular coagulation	biolink:OntologyClass	hp	UMLS:C4023149	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.	http://purl.obolibrary.org/obo/HP_0011880		
OBO:HP_0011881	Decreased platelet glycoprotein VI	biolink:OntologyClass	hp	UMLS:C4023148	Decreased cell membrane concentration of glycoprotein VI.	http://purl.obolibrary.org/obo/HP_0011881		
OBO:HP_0011882	Decreased platelet P2Y12 receptor	biolink:OntologyClass	hp	UMLS:C4023147	Decreased cell membrane concentration of P2Y12 receptor.	http://purl.obolibrary.org/obo/HP_0011882		
OBO:HP_0011883	Abnormal platelet granules	biolink:OntologyClass	hp	UMLS:C4023146	An anomaly of alpha or dense granules or platelet lysosomes.	http://purl.obolibrary.org/obo/HP_0011883		
OBO:HP_0011884	Abnormal umbilical stump bleeding	biolink:OntologyClass	hp	UMLS:C4023145	Abnormal bleeding of the umbilical stump following separation of the cord at approximately 7-10 days after birth.	http://purl.obolibrary.org/obo/HP_0011884		
OBO:HP_0011885	Hemorrhage of the eye	biolink:OntologyClass	hp	MSH:D005130|SNOMEDCT_US:417244000|SNOMEDCT_US:93478000|UMLS:C0015402	Bleeding from vessels of the various tissues of the eye.	http://purl.obolibrary.org/obo/HP_0011885		Bleeding from the eye|Haemorrhage of the eye
OBO:HP_0011886	Hyphema	biolink:OntologyClass	hp	MSH:D006988|SNOMEDCT_US:75229002|UMLS:C0020581	Bleeding in the anterior chamber of the eye.	http://purl.obolibrary.org/obo/HP_0011886		
OBO:HP_0011887	Choroid hemorrhage	biolink:OntologyClass	hp	MSH:D002832|SNOMEDCT_US:122003|UMLS:C0008522	Hemorrhage from the vessels of the choroid.	http://purl.obolibrary.org/obo/HP_0011887		Choroid haemorrhage|Choroidal hemorrhage
OBO:HP_0011888	Bleeding requiring red cell transfusion	biolink:OntologyClass	hp	UMLS:C4023144	Bleeding sufficiently severe as to require red cell transfusion (WHO Grade 3 or 4).	http://purl.obolibrary.org/obo/HP_0011888		Bleeding requiring red cell transfusion
OBO:HP_0011889	Bleeding with minor or no trauma	biolink:OntologyClass	hp	UMLS:C4023143	Significant bleeding or hemorrhage without significant precipitating factor.	http://purl.obolibrary.org/obo/HP_0011889		Bleeding with minor or no trauma|Easy bleeding
OBO:HP_0011890	Prolonged bleeding following procedure	biolink:OntologyClass	hp	UMLS:C4023142	Prolonged or protracted bleeding following an invasive procedure or intervention.	http://purl.obolibrary.org/obo/HP_0011890		Prolonged bleeding following procedure
OBO:HP_0011891	Post-partum hemorrhage	biolink:OntologyClass	hp	MSH:D006473|SNOMEDCT_US:47821001|UMLS:C0032797	Significant maternal haemorrhage/blood loss following deilvery of a child.	http://purl.obolibrary.org/obo/HP_0011891		Bleeding post-delivery|Post-partum haemorrhage
OBO:HP_0011892	Low levels of vitamin K	biolink:OntologyClass	hp	MSH:D014813|SNOMEDCT_US:52675005|UMLS:C0042880	A reduced concentration of vitamin K.	http://purl.obolibrary.org/obo/HP_0011892		
OBO:HP_0011893	Abnormal leukocyte count	biolink:OntologyClass	hp	SNOMEDCT_US:165509000|UMLS:C0580531	Number of leukocytes per volume of blood beyond normal limits.	http://purl.obolibrary.org/obo/HP_0011893		Abnormal white blood cell count
OBO:HP_0011894	Impaired thromboxane A2 agonist-induced platelet aggregation	biolink:OntologyClass	hp	UMLS:C4023141	Abnormal response to thromboxane as manifested by reduced or lacking aggregation of platelets upon addition of thromboxane A2 receptor agonists.	http://purl.obolibrary.org/obo/HP_0011894		
OBO:HP_0011895	Anemia due to reduced life span of red cells	biolink:OntologyClass	hp	UMLS:C4021112	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.	http://purl.obolibrary.org/obo/HP_0011895		Anaemia due to reduced life span of red cells
OBO:HP_0011896	Subconjunctival hemorrhage	biolink:OntologyClass	hp	SNOMEDCT_US:78768009|UMLS:C0038534	Bleeding beneath the mucous membrane that lines the inner surface of the eyelid.	http://purl.obolibrary.org/obo/HP_0011896		Subconjunctival haemorrhage
OBO:HP_0011897	Neutrophilia	biolink:OntologyClass	hp	UMLS:C4023140	Increased number of neutrophils circulating in blood.	http://purl.obolibrary.org/obo/HP_0011897		Increased blood neutrophil counts
OBO:HP_0011898	Abnormality of circulating fibrinogen	biolink:OntologyClass	hp	UMLS:C4023139	An abnormality of the level of activity of circulating fibrinogen.	http://purl.obolibrary.org/obo/HP_0011898		
OBO:HP_0011899	Hyperfibrinogenemia	biolink:OntologyClass	hp	SNOMEDCT_US:439000005|UMLS:C0919890	Increased concentration of fibrinogen in the blood.	http://purl.obolibrary.org/obo/HP_0011899		
OBO:HP_0011900	Hypofibrinogenemia	biolink:OntologyClass	hp	SNOMEDCT_US:234457009|UMLS:C0553681	Decreased concentration of fibrinogen in the blood.	http://purl.obolibrary.org/obo/HP_0011900		Low fibrinogen activity|Low fibrinogen level
OBO:HP_0011901	Dysfibrinogenemia	biolink:OntologyClass	hp	SNOMEDCT_US:111589005|UMLS:C1260903	Qualitatively abnormal fibrinogen.	http://purl.obolibrary.org/obo/HP_0011901		Dysfibrinogenaemia
OBO:HP_0011902	Abnormal hemoglobin	biolink:OntologyClass	hp	UMLS:C0349705	Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes.	http://purl.obolibrary.org/obo/HP_0011902		Abnormal Hb|Abnormal haemoglobin
OBO:HP_0011903	HbH hemoglobin	biolink:OntologyClass	hp	SNOMEDCT_US:48553001|UMLS:C3161174	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.	http://purl.obolibrary.org/obo/HP_0011903		HbH haemoglobin|Hemoglobin H
OBO:HP_0011904	Persistence of hemoglobin F	biolink:OntologyClass	hp	UMLS:C0239941	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.	http://purl.obolibrary.org/obo/HP_0011904		Persistence of HbF|Persistence of haemoglobin F|Increased hemoglobin F
OBO:HP_0011905	Reduced hemoglobin A	biolink:OntologyClass	hp	UMLS:C4023138	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.	http://purl.obolibrary.org/obo/HP_0011905		Reduced HbA|Reduced haemoglobin A
OBO:HP_0011906	Reduced beta/alpha synthesis ratio	biolink:OntologyClass	hp	UMLS:C4023137	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.	http://purl.obolibrary.org/obo/HP_0011906		
OBO:HP_0011907	Reduced alpha/beta synthesis ratio	biolink:OntologyClass	hp	UMLS:C4023136	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.	http://purl.obolibrary.org/obo/HP_0011907		
OBO:HP_0011908	Unilateral radial aplasia	biolink:OntologyClass	hp	UMLS:C4023135	Missing radius bone on one side only associated with congenital failure of development.	http://purl.obolibrary.org/obo/HP_0011908		
OBO:HP_0011909	Flattened metacarpal heads	biolink:OntologyClass	hp	UMLS:C4023134	Abnormally flat shape of the heads of the metacarpal bones.	http://purl.obolibrary.org/obo/HP_0011909		Flattened head of long bone of hand
OBO:HP_0011910	Shortening of all phalanges of fingers	biolink:OntologyClass	hp	UMLS:C4023133	Abnormal reduction in length affecting all phalanges.	http://purl.obolibrary.org/obo/HP_0011910		Shortening of all finger bones
OBO:HP_0011911	Abnormality of metacarpophalangeal joint	biolink:OntologyClass	hp	UMLS:C4023132	An anomaly of a metacarpophalangeal joint.	http://purl.obolibrary.org/obo/HP_0011911		Abnormality of the knuckle
OBO:HP_0011912	Abnormality of the glenoid fossa	biolink:OntologyClass	hp	UMLS:C4023131	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.	http://purl.obolibrary.org/obo/HP_0011912		
OBO:HP_0011913	Lumbar hypertrichosis	biolink:OntologyClass	hp	UMLS:C4023130	Excessive, increased hair growth located in the lumbar region.	http://purl.obolibrary.org/obo/HP_0011913		
OBO:HP_0011914	Thoracic hypertrichosis	biolink:OntologyClass	hp	UMLS:C4023129	Excessive, increased hair growth located in the thoracic region.	http://purl.obolibrary.org/obo/HP_0011914		
OBO:HP_0011915	Cardiovascular calcification	biolink:OntologyClass	hp	UMLS:C4023128	Abnormal calcification in the cardiovascular system.	http://purl.obolibrary.org/obo/HP_0011915		
OBO:HP_0011916	Toe extensor amyotrophy	biolink:OntologyClass	hp	UMLS:C4023127	Atrophy of the extensor digitorum longus muscles, which mediate extension of the toes.	http://purl.obolibrary.org/obo/HP_0011916		
OBO:HP_0011917	Short 5th toe	biolink:OntologyClass	hp	UMLS:C4021111	Underdevelopment (hypoplasia) of the fifth toe.	http://purl.obolibrary.org/obo/HP_0011917		Short little toe|Short pinkie toe|Short pinky toe|Short fifth toe
OBO:HP_0011918	Clinodactyly of the 4th toe	biolink:OntologyClass	hp	UMLS:C4020740	Bending or curvature of a fourth toe in the tibial direction (i.e., towards the big toe).	http://purl.obolibrary.org/obo/HP_0011918		Curvature of 4th toe|4th toe clinodactyly
OBO:HP_0011919	Pleural empyema	biolink:OntologyClass	hp	MSH:D016724|SNOMEDCT_US:405950009|SNOMEDCT_US:405951008|SNOMEDCT_US:58554001|UMLS:C0014013	Accumulation of pus in the pleural cavity.	http://purl.obolibrary.org/obo/HP_0011919		Pyothorax
OBO:HP_0011920	Transudative pleural effusion	biolink:OntologyClass	hp	MSH:D006876|SNOMEDCT_US:79231000|UMLS:C0020312	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.	http://purl.obolibrary.org/obo/HP_0011920		
OBO:HP_0011921	Exudative pleural effusion	biolink:OntologyClass	hp	SNOMEDCT_US:13841000119107|UMLS:C3887491	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.	http://purl.obolibrary.org/obo/HP_0011921		
OBO:HP_0011922	Abnormal activity of mitochondrial respiratory chain	biolink:OntologyClass	hp	UMLS:C4023126	An increased or decreased activity of the mitochondrial respiratory chain.	http://purl.obolibrary.org/obo/HP_0011922		
OBO:HP_0011923	Decreased activity of mitochondrial complex I	biolink:OntologyClass	hp	UMLS:C2677650|UMLS:C4020739	A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria.	http://purl.obolibrary.org/obo/HP_0011923		Respiratory complex I deficiency
OBO:HP_0011924	Decreased activity of mitochondrial complex III	biolink:OntologyClass	hp	UMLS:C3149083|UMLS:C4020738	A reduction in the activity of the mitochondrial respiratory chain complex III, which is part of the electron transport chain in mitochondria.	http://purl.obolibrary.org/obo/HP_0011924		Respiratory complex III deficiency
OBO:HP_0011925	Decreased activity of mitochondrial ATP synthase complex	biolink:OntologyClass	hp	UMLS:C4020737|UMLS:C4023125	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.	http://purl.obolibrary.org/obo/HP_0011925		Respiratory complex deficiency, ATPase deficiency
OBO:HP_0011926	Proximal placement of hallux	biolink:OntologyClass	hp	UMLS:C4021110	Proximal mislocalization of the big toe from its normal position.	http://purl.obolibrary.org/obo/HP_0011926		Proximally placed halluces|Proximal placement of big toe
OBO:HP_0011927	Short digit	biolink:OntologyClass	hp	UMLS:C1860176|UMLS:C4023124	One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened.	http://purl.obolibrary.org/obo/HP_0011927		Short digit|Very short digits
OBO:HP_0011928	Short proximal phalanx of toe	biolink:OntologyClass	hp	UMLS:C4023123	Developmental hypoplasia (shortening) of proximal phalanx of toe.	http://purl.obolibrary.org/obo/HP_0011928		Short innermost toe bone
OBO:HP_0011929	Hypersegmentation of proximal phalanx of third finger	biolink:OntologyClass	hp	UMLS:C4023122	Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the third finger.	http://purl.obolibrary.org/obo/HP_0011929		
OBO:HP_0011930	Hyperextensible skin of chest	biolink:OntologyClass	hp	UMLS:C4021836		http://purl.obolibrary.org/obo/HP_0011930		Hyperelastic chest skin|Stretchable chest skin
OBO:HP_0011931	Abnormality of the cerebellar peduncle	biolink:OntologyClass	hp	UMLS:C4023121	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.	http://purl.obolibrary.org/obo/HP_0011931		
OBO:HP_0011932	Abnormality of the superior cerebellar peduncle	biolink:OntologyClass	hp	UMLS:C4023120	An anomaly of the superior cerebellar peduncle.	http://purl.obolibrary.org/obo/HP_0011932		
OBO:HP_0011933	Elongated superior cerebellar peduncle	biolink:OntologyClass	hp	UMLS:C3810214|UMLS:C4021109	Increased length of the superior cerebellar peduncle.	http://purl.obolibrary.org/obo/HP_0011933		Long cerebellar peduncle|Long cerebellar peduncles|Elongated superior cerebellar peduncles
OBO:HP_0011934	Dilatation of mesenteric artery	biolink:OntologyClass	hp	UMLS:C4023119	Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery or superior mesenteric artery .	http://purl.obolibrary.org/obo/HP_0011934		Mesenteric artery aneurysm
OBO:HP_0011935	Decreased urinary urate	biolink:OntologyClass	hp	UMLS:C4023118	Decreased concentration of urate in the urine.	http://purl.obolibrary.org/obo/HP_0011935		
OBO:HP_0011936	Decreased plasma total carnitine	biolink:OntologyClass	hp	UMLS:C4023117	A decreased concentration of total carnitine in the blood.	http://purl.obolibrary.org/obo/HP_0011936		Decreased plasma total carnitine
OBO:HP_0011937	Hypoplastic fifth toenail	biolink:OntologyClass	hp	UMLS:C4023116	Underdeveloped nails of the fifth toes.	http://purl.obolibrary.org/obo/HP_0011937		Small fifth toenail|Underdeveloped fifth toenail
OBO:HP_0011939	3-4 finger cutaneous syndactyly	biolink:OntologyClass	hp	UMLS:C4023115	A soft tissue continuity in the A/P axis between fingers 3 and 4.	http://purl.obolibrary.org/obo/HP_0011939		
OBO:HP_0011940	Anterior wedging of T12	biolink:OntologyClass	hp	UMLS:C4021108	An abnormality of the shape of the thoracic vertebra T12 such that it is wedge-shaped (narrow towards the front).	http://purl.obolibrary.org/obo/HP_0011940		Anterior wedging of the 12th thoracic vertebra|Wedge-shaped 12th thoracic vertebra
OBO:HP_0011941	Anterior wedging of L2	biolink:OntologyClass	hp	UMLS:C4023114	An abnormality of the shape of the lumbar vertebra L2 such that it is wedge-shaped (narrow towards the front).	http://purl.obolibrary.org/obo/HP_0011941		
OBO:HP_0011942	Increased urinary sulfite	biolink:OntologyClass	hp	UMLS:C1848957	Increased concentration of SO3(2-), i.e., sulfite, in the urine.	http://purl.obolibrary.org/obo/HP_0011942		
OBO:HP_0011943	Increased urinary thiosulfate	biolink:OntologyClass	hp	UMLS:C3148695	Increased concentration of thiosulfate(2-) in the urine.	http://purl.obolibrary.org/obo/HP_0011943		
OBO:HP_0011944	Small vessel vasculitis	biolink:OntologyClass	hp	UMLS:C4023113	A type of vasculitis (inflammation of blood vessel walls) that affects blood vessels that are smaller than arteries, i.e., arterioles, venules, and capilllaries.	http://purl.obolibrary.org/obo/HP_0011944		
OBO:HP_0011945	Bronchiolitis obliterans organizing pneumonia	biolink:OntologyClass	hp	MSH:D018549|SNOMEDCT_US:129458007|UMLS:C0242770	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.	http://purl.obolibrary.org/obo/HP_0011945		BOOP|Bronchiolitis obliterans organising pneumonia|Cryptogenic organizing pneumonia
OBO:HP_0011946	Bronchiolitis obliterans	biolink:OntologyClass	hp	MSH:D001989|SNOMEDCT_US:40100001|UMLS:C0006272|UMLS:C2350875	Inflammation and fibrosis of the bronchioles leading to partial or complete obstruction of these airways.	http://purl.obolibrary.org/obo/HP_0011946		Constrictive bronchiolitis|Obliterative bronchiolitis
OBO:HP_0011947	Respiratory tract infection	biolink:OntologyClass	hp	MSH:D012141|SNOMEDCT_US:275498002|UMLS:C0035243	An infection of the upper or lower respiratory tract.	http://purl.obolibrary.org/obo/HP_0011947		Respiratory infection|Respiratory tract infection|Respiratory infections
OBO:HP_0011948	Recurrent acute respiratory tract infection	biolink:OntologyClass	hp	UMLS:C1442786	A history of repeated acute infections of the upper or lower respiratory tract.	http://purl.obolibrary.org/obo/HP_0011948		Acute respiratory tract infection
OBO:HP_0011949	Acute infectious pneumonia	biolink:OntologyClass	hp	UMLS:C4023112	Acute inflammation of the lung due to an infection.	http://purl.obolibrary.org/obo/HP_0011949		
OBO:HP_0011950	Bronchiolitis	biolink:OntologyClass	hp	MSH:D001988|SNOMEDCT_US:4120002|UMLS:C0006271	Inflammation of the bronchioles.	http://purl.obolibrary.org/obo/HP_0011950		
OBO:HP_0011951	Aspiration pneumonia	biolink:OntologyClass	hp	MSH:D011015|SNOMEDCT_US:422588002|UMLS:C0032290	Pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract.	http://purl.obolibrary.org/obo/HP_0011951		
OBO:HP_0011952	Acute aspiration pneumonia	biolink:OntologyClass	hp	SNOMEDCT_US:35031000119100|UMLS:C4023111	An acute episode of pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract.	http://purl.obolibrary.org/obo/HP_0011952		
OBO:HP_0011953	Pulmonary lymphoma	biolink:OntologyClass	hp	UMLS:C0519063	Lung parenchymal involvement with lymphoma.	http://purl.obolibrary.org/obo/HP_0011953		
OBO:HP_0011954	Nodular regenerative hyperplasia of liver	biolink:OntologyClass	hp	SNOMEDCT_US:65860006|SNOMEDCT_US:715140008|UMLS:C1318485	Diffuse benign transformation of the hepatic parenchyma into small regenerative nodules with minimal or no fibrosis.	http://purl.obolibrary.org/obo/HP_0011954		Nodular transformation of liver|Noncirrhotic nodulation|Partial nodular transformation of liver
OBO:HP_0011955	Hepatic granulomatosis	biolink:OntologyClass	hp	UMLS:C4023110	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.	http://purl.obolibrary.org/obo/HP_0011955		
OBO:HP_0011956	Intestinal lymphoid nodular hyperplasia	biolink:OntologyClass	hp	UMLS:C4023109	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.	http://purl.obolibrary.org/obo/HP_0011956		
OBO:HP_0011957	Abnormal pectoral muscle morphology	biolink:OntologyClass	hp	UMLS:C4023108	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.	http://purl.obolibrary.org/obo/HP_0011957		Abnormal pec muscles
OBO:HP_0011958	Retinal perforation	biolink:OntologyClass	hp	MSH:D012167|SNOMEDCT_US:232003005|SNOMEDCT_US:302888003|SNOMEDCT_US:40024006|SNOMEDCT_US:95690009|UMLS:C0035321	A small hole through the whole thickness of the retina.	http://purl.obolibrary.org/obo/HP_0011958		Retinal tear|Torn retina
OBO:HP_0011959	Unilateral hypoplasia of pectoralis major muscle	biolink:OntologyClass	hp	UMLS:C4023107	Hypoplasia (underdevelopment) of the pectoralis minor on only one side of the chest.	http://purl.obolibrary.org/obo/HP_0011959		Small pec muscle on one side|Underdeveloped pec muscle on one side
OBO:HP_0011960	Substantia nigra gliosis	biolink:OntologyClass	hp	UMLS:C1846865	Focal proliferation of glial cells in the substantia nigra.	http://purl.obolibrary.org/obo/HP_0011960		
OBO:HP_0011961	Non-obstructive azoospermia	biolink:OntologyClass	hp	UMLS:C4021107	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.	http://purl.obolibrary.org/obo/HP_0011961		Testicular azoospermia
OBO:HP_0011962	Obstructive azoospermia	biolink:OntologyClass	hp	UMLS:C4023106	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.	http://purl.obolibrary.org/obo/HP_0011962		
OBO:HP_0011963	Pretesticular azoospermia	biolink:OntologyClass	hp	UMLS:C4023105	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.	http://purl.obolibrary.org/obo/HP_0011963		
OBO:HP_0011964	Intermittent painful muscle spasms	biolink:OntologyClass	hp	UMLS:C4023104	History of repeated intermittent involuntary muscle contractions that were painful.	http://purl.obolibrary.org/obo/HP_0011964		
OBO:HP_0011965	Abnormal circulating citrulline concentration	biolink:OntologyClass	hp	UMLS:C4023103	Any deviation from the normal concentration of citrulline in the blood circulation.	http://purl.obolibrary.org/obo/HP_0011965		
OBO:HP_0011966	Elevated plasma citrulline	biolink:OntologyClass	hp	UMLS:C4023102	An increased concentration of citrulline in the blood.	http://purl.obolibrary.org/obo/HP_0011966		
OBO:HP_0011967	Decreased circulating copper concentration	biolink:OntologyClass	hp	SNOMEDCT_US:19577007|UMLS:C0268070	A reduced concentration of copper in the blood.	http://purl.obolibrary.org/obo/HP_0011967		Copper deficiency|Hypocupremia|Reduced serum copper
OBO:HP_0011968	Feeding difficulties	biolink:OntologyClass	hp	SNOMEDCT_US:78164000|UMLS:C0232466	Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.	http://purl.obolibrary.org/obo/HP_0011968	hposlim_core	Feeding difficulties|Feeding problems|Poor feeding
OBO:HP_0011969	Elevated circulating luteinizing hormone level	biolink:OntologyClass	hp	UMLS:C4023101	An elevated concentration of luteinizing hormone in the blood.	http://purl.obolibrary.org/obo/HP_0011969		Elevated LH level|Elevated luteinizing hormone|Increased circulating luteinizing hormone level
OBO:HP_0011970	Cerebral amyloid angiopathy	biolink:OntologyClass	hp	MSH:D016657|SNOMEDCT_US:230724001|UMLS:C0085220	Amyloid deposition in the walls of leptomeningeal and cortical arteries, arterioles, and less often capillaries and veins of the central nervous system.	http://purl.obolibrary.org/obo/HP_0011970		
OBO:HP_0011971	Dermatographic urticaria	biolink:OntologyClass	hp	SNOMEDCT_US:402410006|SNOMEDCT_US:402601007|SNOMEDCT_US:7632005|UMLS:C0343065	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).	http://purl.obolibrary.org/obo/HP_0011971		Dermatographism|Dermographism
OBO:HP_0011972	Hypoglycorrhachia	biolink:OntologyClass	hp	UMLS:C0598121	Abnormally low glucose concentration in the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0011972		Low glucose levels in cerebral spinal fluid|Decreased CSF glucose
OBO:HP_0011973	Paroxysmal lethargy	biolink:OntologyClass	hp	UMLS:C1847507	Repeated episodes of sudden-onset and transient lethargy.	http://purl.obolibrary.org/obo/HP_0011973		
OBO:HP_0011974	Myelofibrosis	biolink:OntologyClass	hp	SNOMEDCT_US:52967002|UMLS:C0026987	Replacement of bone marrow by fibrous tissue.	http://purl.obolibrary.org/obo/HP_0011974		
OBO:HP_0011975	Aminoglycoside-induced hearing loss	biolink:OntologyClass	hp	UMLS:C4023100	Partial or complete loss of hearing following ingestion of aminoglycoside antibiotics.	http://purl.obolibrary.org/obo/HP_0011975		
OBO:HP_0011976	Elevated urinary catecholamines	biolink:OntologyClass	hp	UMLS:C0241577	An increased concentration of catecholamine in the urine.	http://purl.obolibrary.org/obo/HP_0011976		Elevated urinary catecholamines
OBO:HP_0011977	Elevated urinary homovanillic acid	biolink:OntologyClass	hp	UMLS:C4020736	An increased concentration of homovanillic acid in the urine.	http://purl.obolibrary.org/obo/HP_0011977		Increased urinary homovanillic acid
OBO:HP_0011978	Elevated urinary vanillylmandelic acid	biolink:OntologyClass	hp	UMLS:C4020735	An increased concentration of vanillylmandelic acid in the urine.	http://purl.obolibrary.org/obo/HP_0011978		Increased urinary vanillylmandelic acid
OBO:HP_0011979	Elevated urinary dopamine	biolink:OntologyClass	hp	UMLS:C4023099	An increased concentration of dopamine in the urine.	http://purl.obolibrary.org/obo/HP_0011979		Elevated urinary dopamine
OBO:HP_0011980	Cholesterol gallstones	biolink:OntologyClass	hp	UMLS:C0856727	Gallstones composed primarily of cholesterol, usually about 2-3 cm in length with an oval form and a yellow or green/brown color.	http://purl.obolibrary.org/obo/HP_0011980		
OBO:HP_0011981	Pigment gallstones	biolink:OntologyClass	hp	UMLS:C3278865	Gallstones composed primarily of bilirubin and calcium salts (calcium bilirubinate) with a low cholesterol concentration.	http://purl.obolibrary.org/obo/HP_0011981		
OBO:HP_0011982	Black pigment gallstones	biolink:OntologyClass	hp	UMLS:C4023098	A type of pigment gallstone that is hard and black, containing calcium carbonate and calcium phosphates.	http://purl.obolibrary.org/obo/HP_0011982		
OBO:HP_0011983	Brown pigment gallstones	biolink:OntologyClass	hp	UMLS:C4023097	A type of pigment gallstone that is brown, containing calcium fatty acids. These stones are softer than black pigment gallstones.	http://purl.obolibrary.org/obo/HP_0011983		
OBO:HP_0011984	Atretic gallbladder	biolink:OntologyClass	hp	UMLS:C3277945	Failure of formation of the lumen of the gallbladder, often associated with gallbladder hypoplasia.	http://purl.obolibrary.org/obo/HP_0011984		Gallbladder atresia
OBO:HP_0011985	Acholic stools	biolink:OntologyClass	hp	SNOMEDCT_US:70396004|UMLS:C2675627	Clay colored stools lacking bile pigment.	http://purl.obolibrary.org/obo/HP_0011985		Clay colored stools|Acholia|Discolored, acholic stools
OBO:HP_0011986	Ectopic ossification	biolink:OntologyClass	hp	MEDDRA:10065453|MSH:D009999|SNOMEDCT_US:128491006|UMLS:C0029396	Formation of abnormal, extraskeletal bony tissue, i.e., the presence of bone in soft tissue where bone normally does not exist.	http://purl.obolibrary.org/obo/HP_0011986		Ectopic bone formation|Heterotopic ossification
OBO:HP_0011987	Ectopic ossification in muscle tissue	biolink:OntologyClass	hp	UMLS:C4023096	Formation of abnormal bony tissue within muscle tissue.	http://purl.obolibrary.org/obo/HP_0011987		Calcification of muscle tissue
OBO:HP_0011988	Ectopic ossification in tendon tissue	biolink:OntologyClass	hp	UMLS:C4023095	Formation of abnormal bony tissue within tendon tissue.	http://purl.obolibrary.org/obo/HP_0011988		
OBO:HP_0011989	Ectopic ossification in ligament tissue	biolink:OntologyClass	hp	UMLS:C4023094	Formation of abnormal bony tissue within ligament tissue.	http://purl.obolibrary.org/obo/HP_0011989		
OBO:HP_0011990	Abnormality of neutrophil physiology	biolink:OntologyClass	hp	UMLS:C4023093	A functional abnormality of neutrophils.	http://purl.obolibrary.org/obo/HP_0011990		
OBO:HP_0011991	Abnormal neutrophil count	biolink:OntologyClass	hp	UMLS:C4023092	A deviation from the normal range of neutrophil cell counts in the circulation.	http://purl.obolibrary.org/obo/HP_0011991		Abnormal neutrophil cell number
OBO:HP_0011992	Abnormality of neutrophil morphology	biolink:OntologyClass	hp	UMLS:C4023091	An abnormal form or size of neutrophils.	http://purl.obolibrary.org/obo/HP_0011992		
OBO:HP_0011993	Impaired neutrophil bactericidal activity	biolink:OntologyClass	hp	UMLS:C4023090	A reduction in the ability of neutrophils to kill bacteria.	http://purl.obolibrary.org/obo/HP_0011993		
OBO:HP_0011994	Abnormal atrial septum morphology	biolink:OntologyClass	hp	Fyler:2002|SNOMEDCT_US:253363004|UMLS:C0344722	An abnormality of the interatrial septum.	http://purl.obolibrary.org/obo/HP_0011994		Abnormal interatrial septum morphology|Abnormality of the atrial septum
OBO:HP_0011995	Atrial septal dilatation	biolink:OntologyClass	hp	SNOMEDCT_US:95440004|UMLS:C0521533	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.	http://purl.obolibrary.org/obo/HP_0011995		Atrial septal aneurysm
OBO:HP_0011996	Elevated coagulation factor V activity	biolink:OntologyClass	hp	UMLS:C4021106	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.	http://purl.obolibrary.org/obo/HP_0011996		Elevated factor V activity|Plasma factor V elevated
OBO:HP_0011997	Postprandial hyperlactemia	biolink:OntologyClass	hp	UMLS:C4023089	Abnormally increased level of blood lactate following a meal.	http://purl.obolibrary.org/obo/HP_0011997		
OBO:HP_0011998	Postprandial hyperglycemia	biolink:OntologyClass	hp	MSH:D006943|UMLS:C1855520	An increased concentration of glucose in the blood following a meal.	http://purl.obolibrary.org/obo/HP_0011998		
OBO:HP_0011999	Paranoia	biolink:OntologyClass	hp	MSH:D010259|SNOMEDCT_US:191667009|UMLS:C1456784	A persecutory delusion of supposed hostility of others.	http://purl.obolibrary.org/obo/HP_0011999		Paranoia
OBO:HP_0012000	EEG with generalized spikes	biolink:OntologyClass	hp	UMLS:C2206531	EEG with generalized sharp transient waves of a duration less than 80 msec.	http://purl.obolibrary.org/obo/HP_0012000		EEG with generalised spikes
OBO:HP_0012001	EEG with generalized polyspikes	biolink:OntologyClass	hp	UMLS:C4023088	EEG with repetitive generalized sharp transient waves of a duration less than 80 msec.	http://purl.obolibrary.org/obo/HP_0012001		EEG with generalised polyspikes
OBO:HP_0012002	Experiential epileptic aura	biolink:OntologyClass	hp	UMLS:C4023087	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.	http://purl.obolibrary.org/obo/HP_0012002		Experiential auras|Experiential aura
OBO:HP_0012003	Affective epileptic aura	biolink:OntologyClass	hp	UMLS:C4023086	Affective auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context.	http://purl.obolibrary.org/obo/HP_0012003		Affective auras|Affective aura|Emotional aura
OBO:HP_0012004	Focal cognitive seizure with deja vu/jamais vu	biolink:OntologyClass	hp	UMLS:C4023085	A focal cognitive seizure characterized by memory phenomena such as feelings of familiarity (deja vu) and unfamiliarity (jamais vu) as the initial semiological manifestation.	http://purl.obolibrary.org/obo/HP_0012004		Mnemonic auras|Mnemonic aura
OBO:HP_0012005	Deja vu aura	biolink:OntologyClass	hp	MSH:D003690|SNOMEDCT_US:313005|UMLS:C0011194	A subjective feeling that an experience which is occurring for the first time has been experienced before.	http://purl.obolibrary.org/obo/HP_0012005		Deja vu
OBO:HP_0012006	Jamais vu aura	biolink:OntologyClass	hp	SNOMEDCT_US:28249008|UMLS:C0233803	A subjective feeling that an experience which has occurred before is being experienced for the first time.	http://purl.obolibrary.org/obo/HP_0012006		Jamais vu
OBO:HP_0012007	Focal cognitive seizure with hallucination	biolink:OntologyClass	hp	UMLS:C4023084	A focal cognitive seizure characterized by hallucination as the initial semiological manifestation.	http://purl.obolibrary.org/obo/HP_0012007		Hallucinatory auras|Hallucinatory aura
OBO:HP_0012008	Focal cognitive seizure with illusion	biolink:OntologyClass	hp	UMLS:C4023083	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.	http://purl.obolibrary.org/obo/HP_0012008		Illusory auras|Illusory aura
OBO:HP_0012009	EEG with central focal spike waves	biolink:OntologyClass	hp	UMLS:C4023082	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.	http://purl.obolibrary.org/obo/HP_0012009		
OBO:HP_0012010	EEG with frontal focal spike waves	biolink:OntologyClass	hp	UMLS:C4023081	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.	http://purl.obolibrary.org/obo/HP_0012010		
OBO:HP_0012011	EEG with occipital focal spike waves	biolink:OntologyClass	hp	UMLS:C4023080	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.	http://purl.obolibrary.org/obo/HP_0012011		
OBO:HP_0012012	EEG with parietal focal spike waves	biolink:OntologyClass	hp	UMLS:C4023079	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.	http://purl.obolibrary.org/obo/HP_0012012		
OBO:HP_0012013	EEG with temporal focal spike waves	biolink:OntologyClass	hp	UMLS:C4023078	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.	http://purl.obolibrary.org/obo/HP_0012013		
OBO:HP_0012014	EEG with central focal spikes	biolink:OntologyClass	hp	UMLS:C4023077	EEG with focal sharp transient waves of a duration less than 80 msec in the central region.	http://purl.obolibrary.org/obo/HP_0012014		
OBO:HP_0012015	EEG with frontal focal spikes	biolink:OntologyClass	hp	UMLS:C4023076	EEG with focal sharp transient waves of a duration less than 80 msec in the frontal region.	http://purl.obolibrary.org/obo/HP_0012015		
OBO:HP_0012016	EEG with occipital focal spikes	biolink:OntologyClass	hp	UMLS:C4023075	EEG with focal sharp transient waves of a duration less than 80 msec in the occipital region.	http://purl.obolibrary.org/obo/HP_0012016		
OBO:HP_0012017	EEG with parietal focal spikes	biolink:OntologyClass	hp	UMLS:C4023074	EEG with focal sharp transient waves of a duration less than 80 msec in the parietal region.	http://purl.obolibrary.org/obo/HP_0012017		
OBO:HP_0012018	EEG with temporal focal spikes	biolink:OntologyClass	hp	UMLS:C4023073	EEG with focal sharp transient waves of a duration less than 80 msec in the temporal region.	http://purl.obolibrary.org/obo/HP_0012018		
OBO:HP_0012019	Lens luxation	biolink:OntologyClass	hp	MSH:D007906|UMLS:C0023309	Complete dislocation of the lens of the eye.	http://purl.obolibrary.org/obo/HP_0012019		Dislocated lens|Dislocated lenses
OBO:HP_0012020	Right aortic arch	biolink:OntologyClass	hp	Fyler:2720|SNOMEDCT_US:111321007|SNOMEDCT_US:244229003|UMLS:C0035615	Aorta descends on right instead of on the left.	http://purl.obolibrary.org/obo/HP_0012020		Right-sided aortic arch
OBO:HP_0012021	Persistent patent ductus venosus	biolink:OntologyClass	hp	UMLS:C4023072	Persistence of blood flow through the ductus venosus for longer than the normal time after birth.	http://purl.obolibrary.org/obo/HP_0012021		
OBO:HP_0012022	Congenital portosystemic venous shunt	biolink:OntologyClass	hp	MSH:C562830|SNOMEDCT_US:253330006|UMLS:C0344688	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).	http://purl.obolibrary.org/obo/HP_0012022		
OBO:HP_0012023	Galactosuria	biolink:OntologyClass	hp	SNOMEDCT_US:71690006|UMLS:C0268157	Elevated concentration of galactose in the urine.	http://purl.obolibrary.org/obo/HP_0012023		Increased urinary galactose level
OBO:HP_0012024	Hypergalactosemia	biolink:OntologyClass	hp	MSH:D005693|SNOMEDCT_US:190745006|SNOMEDCT_US:190749000|UMLS:C0016952|UMLS:C4023071	Elevated concentration of galactose in the blood.	http://purl.obolibrary.org/obo/HP_0012024		Galactosemia
OBO:HP_0012025	Abnormal circulating ornithine concentration	biolink:OntologyClass	hp	UMLS:C4023070	Deviation from the normal concentration of ornithine in the blood circulation.	http://purl.obolibrary.org/obo/HP_0012025		
OBO:HP_0012026	Hyperornithinemia	biolink:OntologyClass	hp	MSH:D015799|SNOMEDCT_US:276426004|SNOMEDCT_US:33985005|UMLS:C0599035	Increased concentration of ornithine in the blood.	http://purl.obolibrary.org/obo/HP_0012026		High blood ornithine levels
OBO:HP_0012027	Laryngeal edema	biolink:OntologyClass	hp	MSH:D007819|SNOMEDCT_US:51599000|UMLS:C0023052	An abnormal accumulation of fluid and swelling in the tissues of the larynx.	http://purl.obolibrary.org/obo/HP_0012027		Laryngeal oedema
OBO:HP_0012028	Hepatocellular adenoma	biolink:OntologyClass	hp	MPATH:353|MSH:D018248|SNOMEDCT_US:424263008|SNOMEDCT_US:78058005|UMLS:C0206669	A benign tumor of the liver of presumably epithelial origin.	http://purl.obolibrary.org/obo/HP_0012028		Hepatic adenoma|Liver cell adenoma
OBO:HP_0012029	Abnormal urine hormone level	biolink:OntologyClass	hp	UMLS:C4023069	An abnormal concentration of a hormone in the urine.	http://purl.obolibrary.org/obo/HP_0012029		Abnormality of urine hormone level
OBO:HP_0012030	Increased urinary cortisol level	biolink:OntologyClass	hp	UMLS:C4023068	Abnormally increased concentration of cortisol in the urine.	http://purl.obolibrary.org/obo/HP_0012030		High urine cortisol level
OBO:HP_0012031	Lipomatous tumor	biolink:OntologyClass	hp	MPATH:415|MSH:D018205|SNOMEDCT_US:115227001|SNOMEDCT_US:254827004|SNOMEDCT_US:254831005|UMLS:C0206631		http://purl.obolibrary.org/obo/HP_0012031		Lipomatous tumour
OBO:HP_0012032	Lipoma	biolink:OntologyClass	hp	MEDDRA:10024612|MPATH:417|MSH:D008067|SNOMEDCT_US:46720004|SNOMEDCT_US:93163002|UMLS:C0023798	Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous.	http://purl.obolibrary.org/obo/HP_0012032	hposlim_core	Fatty lump|Noncancerous fatty lump
OBO:HP_0012033	Sacral lipoma	biolink:OntologyClass	hp	UMLS:C4021835	Presence of a lipoma in the region of the sacrum.	http://purl.obolibrary.org/obo/HP_0012033		
OBO:HP_0012034	Liposarcoma	biolink:OntologyClass	hp	MPATH:418|MSH:D008080|SNOMEDCT_US:254829001|SNOMEDCT_US:49430005|UMLS:C0023827	Malignant neoplasms which probably originate in primitive mesenchymal stem cell populations differentiating down a lipomatous pathway.	http://purl.obolibrary.org/obo/HP_0012034		
OBO:HP_0012035	Steatocystoma multiplex	biolink:OntologyClass	hp	MSH:D062685|SNOMEDCT_US:109433009|UMLS:C0259771	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).	http://purl.obolibrary.org/obo/HP_0012035		
OBO:HP_0012036	Sternocleidomastoid amyotrophy	biolink:OntologyClass	hp	UMLS:C4023067	Wasting of the sternocleidomastoid muscle, the muscle in the anterior part of the neck that acts to flex and rotate the head.	http://purl.obolibrary.org/obo/HP_0012036		
OBO:HP_0012037	Pectoralis amyotrophy	biolink:OntologyClass	hp	UMLS:C4023066	Wasting of the pectoral muscles, i.e., of the pectoralis major and pectoralis minor.	http://purl.obolibrary.org/obo/HP_0012037		Wasting of pec muscles
OBO:HP_0012038	Corneal guttata	biolink:OntologyClass	hp	SNOMEDCT_US:373424008|UMLS:C0271288	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.	http://purl.obolibrary.org/obo/HP_0012038		Corneal endothelial guttata
OBO:HP_0012039	Descemet Membrane Folds	biolink:OntologyClass	hp	SNOMEDCT_US:193821003|UMLS:C0155116	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.	http://purl.obolibrary.org/obo/HP_0012039		
OBO:HP_0012040	Corneal stromal edema	biolink:OntologyClass	hp	SNOMEDCT_US:373430008|UMLS:C0474444	Abnormal accumulation of fluid and swelling of the stroma of cornea.	http://purl.obolibrary.org/obo/HP_0012040		Corneal stromal oedema
OBO:HP_0012041	Decreased fertility in males	biolink:OntologyClass	hp	UMLS:C0151640		http://purl.obolibrary.org/obo/HP_0012041		Decreased fertility in males
OBO:HP_0012042	Aspirin-induced asthma	biolink:OntologyClass	hp	MSH:D055963|SNOMEDCT_US:407674008|UMLS:C1319853	A type of asthma in which aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) that inhibit cyclooxygen-ase 1 (COX-1) exacerbate bronchoconstriction.	http://purl.obolibrary.org/obo/HP_0012042		Aspirin-induced asthma
OBO:HP_0012043	Pendular nystagmus	biolink:OntologyClass	hp	MSH:D009759|SNOMEDCT_US:35743001|UMLS:C0271388|UMLS:C4020734	Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction.	http://purl.obolibrary.org/obo/HP_0012043		Nystagmus, continuous pendular|Nystagmus, pendular
OBO:HP_0012044	Seesaw nystagmus	biolink:OntologyClass	hp	MSH:D009759|SNOMEDCT_US:95782001|UMLS:C0344243	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.	http://purl.obolibrary.org/obo/HP_0012044		
OBO:HP_0012045	Retinal flecks	biolink:OntologyClass	hp	SNOMEDCT_US:247138002|UMLS:C0423414	Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions.	http://purl.obolibrary.org/obo/HP_0012045		
OBO:HP_0012046	Areflexia of upper limbs	biolink:OntologyClass	hp	UMLS:C2674177	Inability to elicit tendon reflexes in the upper limbs.	http://purl.obolibrary.org/obo/HP_0012046		
OBO:HP_0012047	Hemeralopia	biolink:OntologyClass	hp	MSH:D014786|SNOMEDCT_US:399323001|UMLS:C0018975	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.	http://purl.obolibrary.org/obo/HP_0012047		Day blindness
OBO:HP_0012048	Oromandibular dystonia	biolink:OntologyClass	hp	UMLS:C2242577	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.	http://purl.obolibrary.org/obo/HP_0012048		Cranial dystonia
OBO:HP_0012049	Laryngeal dystonia	biolink:OntologyClass	hp	SNOMEDCT_US:3331000119108|UMLS:C1963946	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.	http://purl.obolibrary.org/obo/HP_0012049		Spasmodic dysphonia
OBO:HP_0012050	Anasarca	biolink:OntologyClass	hp	MSH:D004487|SNOMEDCT_US:16740003|SNOMEDCT_US:442433009|UMLS:C0151603	An extreme form of generalized edema with widespread and massive edema due to effusion of fluid into the extracellular space.	http://purl.obolibrary.org/obo/HP_0012050		Extreme generalized edema
OBO:HP_0012051	Reactive hypoglycemia	biolink:OntologyClass	hp	MSH:D007003|SNOMEDCT_US:237638000|SNOMEDCT_US:317006|UMLS:C0271710	Hypoglycermia following a meal (or more generally, after intake of glucose).	http://purl.obolibrary.org/obo/HP_0012051		Low blood sugar after a meal|Postprandial hypoglycemia
OBO:HP_0012052	Low serum calcitriol	biolink:OntologyClass	hp	UMLS:C4023065	A reduced concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3.	http://purl.obolibrary.org/obo/HP_0012052		Low serum 1,25-dihydroxycholecalciferol|Low serum 1,25-dihydroxyvitamin D3
OBO:HP_0012053	Low serum calcifediol	biolink:OntologyClass	hp	UMLS:C4023064	A reduced concentration of calcifediol in the blood. Calcifediol is also known as calcidiol, 25-hydroxycholecalciferol and 25-Hydroxyvitamin D3.	http://purl.obolibrary.org/obo/HP_0012053		Low serum 25-hydroxycholecalciferol|Low serum calcidiol
OBO:HP_0012054	Choroidal melanoma	biolink:OntologyClass	hp	NCIT:C3224|SNOMEDCT_US:255021005|UMLS:C0346388	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).	http://purl.obolibrary.org/obo/HP_0012054		
OBO:HP_0012055	Ciliary body melanoma	biolink:OntologyClass	hp	NCIT:C3224|SNOMEDCT_US:255015006|UMLS:C0346379	Malignant tumor of melanocytes of the ciliary body.	http://purl.obolibrary.org/obo/HP_0012055		
OBO:HP_0012056	Cutaneous melanoma	biolink:OntologyClass	hp	MSH:D008545|NCIT:C3224|SNOMEDCT_US:2092003|SNOMEDCT_US:372244006|UMLS:C0025202	The presence of a melanoma of the skin.	http://purl.obolibrary.org/obo/HP_0012056		
OBO:HP_0012057	Superficial spreading melanoma	biolink:OntologyClass	hp	SNOMEDCT_US:254730000|SNOMEDCT_US:55320002|UMLS:C0334438	A type of melanoma that is flat and irregular in shape and color, with different shades of black and brown.	http://purl.obolibrary.org/obo/HP_0012057		
OBO:HP_0012058	Nodular melanoma	biolink:OntologyClass	hp	SNOMEDCT_US:2142002|SNOMEDCT_US:254731001|UMLS:C0334424	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.	http://purl.obolibrary.org/obo/HP_0012058		
OBO:HP_0012059	Lentigo maligna melanoma	biolink:OntologyClass	hp	SNOMEDCT_US:302837001|SNOMEDCT_US:44474009|UMLS:C2739810	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.	http://purl.obolibrary.org/obo/HP_0012059		
OBO:HP_0012060	Acral lentiginous melanoma	biolink:OntologyClass	hp	SNOMEDCT_US:16974005|SNOMEDCT_US:254732008|UMLS:C0346037	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.	http://purl.obolibrary.org/obo/HP_0012060		
OBO:HP_0012061	Urinary excretion of sialylated oligosaccharides	biolink:OntologyClass	hp	UMLS:C2673302	Excretion of oligosaccharides conjugated to sialic acid in the urine.	http://purl.obolibrary.org/obo/HP_0012061		Increased urinary sialyloligosaccharides
OBO:HP_0012062	Bone cyst	biolink:OntologyClass	hp	MSH:D001845|SNOMEDCT_US:112643007|SNOMEDCT_US:203465002|SNOMEDCT_US:203467005|SNOMEDCT_US:66954000|UMLS:C0005937	A fluid filled cavity that develops with a bone.	http://purl.obolibrary.org/obo/HP_0012062		Bone cyst|Bone cysts
OBO:HP_0012063	Aneurysmal bone cyst	biolink:OntologyClass	hp	MSH:D017824|SNOMEDCT_US:203468000|SNOMEDCT_US:76000001|UMLS:C0152244	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.	http://purl.obolibrary.org/obo/HP_0012063		
OBO:HP_0012064	Unicameral bone cyst	biolink:OntologyClass	hp	SNOMEDCT_US:112643007|SNOMEDCT_US:203467005|UMLS:C4082185	A benign fluid filled simple cyst of bone filled with serous fluid.	http://purl.obolibrary.org/obo/HP_0012064		
OBO:HP_0012065	Multiple bony cystic lesions	biolink:OntologyClass	hp	UMLS:C4023063	Presence of multiple cystic changes in multiple areas or multiple bones.	http://purl.obolibrary.org/obo/HP_0012065		Multiple bony cystic lesions
OBO:HP_0012066	Increased urinary disaccharide excretion	biolink:OntologyClass	hp	UMLS:C4023062	Increased concentration of disaccharide in the urine.	http://purl.obolibrary.org/obo/HP_0012066		
OBO:HP_0012067	Glycopeptiduria	biolink:OntologyClass	hp	UMLS:C4023061	Increased excretion of glycopeptides in the urine. Glycopeptides are peptides with carbohydrate moieties covalently attached to the side chains of the amino acid residues.	http://purl.obolibrary.org/obo/HP_0012067		High urine glycopeptide levels
OBO:HP_0012068	Aspartylglucosaminuria	biolink:OntologyClass	hp	MSH:D054880|SNOMEDCT_US:54954004|UMLS:C0268225	Excretion of excess amounts of aspartylglucosamine in the urine.	http://purl.obolibrary.org/obo/HP_0012068		High urine aspartylglucosamine levels
OBO:HP_0012069	Keratan sulfate excretion in urine	biolink:OntologyClass	hp	UMLS:C4023060	An increased concentration of keratan sulfate in the urine.	http://purl.obolibrary.org/obo/HP_0012069		Keratan sulphate excretion in urine
OBO:HP_0012070	Chondroitin sulfate excretion in urine	biolink:OntologyClass	hp	UMLS:C4023059	An increased concentration of chondroitin sulfate (CHEBI:37397) in the urine.	http://purl.obolibrary.org/obo/HP_0012070		Chondroitin sulphate excretion in urine
OBO:HP_0012071	Abnormal circulating acetylcarnitine concentration	biolink:OntologyClass	hp	UMLS:C4020733|UMLS:C4023058	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.	http://purl.obolibrary.org/obo/HP_0012071		Abnormal circulating esterified carnitine concentration|Abnormal acetylcarnitine profile
OBO:HP_0012072	Aciduria	biolink:OntologyClass	hp	SNOMEDCT_US:21806007|UMLS:C0278026	Excretion of urine with an acid pH, i.e., having an increased hydrogen ion concentration.	http://purl.obolibrary.org/obo/HP_0012072		Acidic urine
OBO:HP_0012073	Abnormal urinary acylglycine profile	biolink:OntologyClass	hp	UMLS:C4023057	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.	http://purl.obolibrary.org/obo/HP_0012073		
OBO:HP_0012074	Tonic pupil	biolink:OntologyClass	hp	MSH:D015845|SNOMEDCT_US:24225004|UMLS:C0040416	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.	http://purl.obolibrary.org/obo/HP_0012074	hposlim_core	Adie pupil|Adie's tonic pupil
OBO:HP_0012075	Personality disorder	biolink:OntologyClass	hp	ICD-10:F60|MSH:D010554|SNOMEDCT_US:33449004|UMLS:C0031212	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.	http://purl.obolibrary.org/obo/HP_0012075		
OBO:HP_0012076	Borderline personality disorder	biolink:OntologyClass	hp	ICD-10:F60.3|MSH:D001883|SNOMEDCT_US:20010003|UMLS:C0006012	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.	http://purl.obolibrary.org/obo/HP_0012076		BPD
OBO:HP_0012077	Histrionic personality disorder	biolink:OntologyClass	hp	ICD-10:F60.4|MSH:D006677|SNOMEDCT_US:55341008|UMLS:C0019681	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.	http://purl.obolibrary.org/obo/HP_0012077		
OBO:HP_0012078	Motor conduction block	biolink:OntologyClass	hp	UMLS:C4023056	Blockade of impulses at a focal site along the course of a motor axon.	http://purl.obolibrary.org/obo/HP_0012078		
OBO:HP_0012079	Abnormality of central motor conduction	biolink:OntologyClass	hp	UMLS:C4023055	Any anomaly of the conduction of motor nerve impulses in the central nervous system.	http://purl.obolibrary.org/obo/HP_0012079		
OBO:HP_0012080	Cerebellar granular layer atrophy	biolink:OntologyClass	hp	UMLS:C4023054	Atrophy of the cerebellum affecting primarily the granular cell layer.	http://purl.obolibrary.org/obo/HP_0012080		
OBO:HP_0012081	Enlarged cerebellum	biolink:OntologyClass	hp	UMLS:C3278024	An abnormally increased size of the cerebellum compared to other brain structures.	http://purl.obolibrary.org/obo/HP_0012081		
OBO:HP_0012082	Cerebellar Purkinje layer atrophy	biolink:OntologyClass	hp	UMLS:C4023053	Atrophy of the cerebellum affecting primarily the Purkinje cell layer.	http://purl.obolibrary.org/obo/HP_0012082		
OBO:HP_0012083	Ubiquitin-positive cerebral inclusion bodies	biolink:OntologyClass	hp	UMLS:C4023052	Nuclear or cytoplasmic aggregates that show positive staining with antibodies against ubiquitin within cells of the brain.	http://purl.obolibrary.org/obo/HP_0012083		
OBO:HP_0012084	Abnormality of skeletal muscle fiber size	biolink:OntologyClass	hp	UMLS:C4023051	Any abnormality of the size of the skeletal muscle cell.	http://purl.obolibrary.org/obo/HP_0012084		Abnormality of skeletal muscle fibre size
OBO:HP_0012085	Pyuria	biolink:OntologyClass	hp	MSH:D011776|SNOMEDCT_US:275765006|SNOMEDCT_US:4800001|UMLS:C0034359	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.	http://purl.obolibrary.org/obo/HP_0012085		High urine neutrophil count|Leukocyturia
OBO:HP_0012086	Abnormal urinary color	biolink:OntologyClass	hp	SNOMEDCT_US:102867009|SNOMEDCT_US:167239007|UMLS:C0522153	An abnormal color of the urine, that is, the color of the urine appears different from the usual straw-yellow color.	http://purl.obolibrary.org/obo/HP_0012086		Abnormal urinary color|Abnormal urinary colour|Abnormal urine color
OBO:HP_0012087	Abnormal mitochondrial shape	biolink:OntologyClass	hp	UMLS:C4023050	An anomaly in the surface contour of mitochondria.	http://purl.obolibrary.org/obo/HP_0012087		
OBO:HP_0012088	Abnormal urinary odor	biolink:OntologyClass	hp	SNOMEDCT_US:8769003|UMLS:C0278045	A deviation from the normal odor of the urine.	http://purl.obolibrary.org/obo/HP_0012088		Abnormal urinary odor|Abnormal urinary odour|Abnormal urine smell
OBO:HP_0012089	Arteritis	biolink:OntologyClass	hp	MSH:D001167|SNOMEDCT_US:52089001|UMLS:C0003860	Arterial inflammation.	http://purl.obolibrary.org/obo/HP_0012089		Inflammation of artery
OBO:HP_0012090	Abnormal pancreas morphology	biolink:OntologyClass	hp	UMLS:C4023049		http://purl.obolibrary.org/obo/HP_0012090		Abnormally shaped pancreas|Abnormality of pancreas morphology
OBO:HP_0012091	Abnormality of pancreas physiology	biolink:OntologyClass	hp	UMLS:C4023048	An anomaly of the function of the pancreas.	http://purl.obolibrary.org/obo/HP_0012091		
OBO:HP_0012092	Abnormality of exocrine pancreas physiology	biolink:OntologyClass	hp	UMLS:C4021103	A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes.	http://purl.obolibrary.org/obo/HP_0012092		Abnormal exocrine pancreatic function
OBO:HP_0012093	Abnormality of endocrine pancreas physiology	biolink:OntologyClass	hp	UMLS:C4023047	A function abnormality of the endocrine pancreas.	http://purl.obolibrary.org/obo/HP_0012093		
OBO:HP_0012094	Abnormal pancreas size	biolink:OntologyClass	hp	UMLS:C4023046	A deviation from the normal size of the pancreas.	http://purl.obolibrary.org/obo/HP_0012094		Abnormal pancreas size
OBO:HP_0012095	Multiple joint dislocation	biolink:OntologyClass	hp	SNOMEDCT_US:287096003|SNOMEDCT_US:34277002|UMLS:C0332792	Dislocation of many joints.	http://purl.obolibrary.org/obo/HP_0012095		Multiple joint dislocations
OBO:HP_0012096	Intracranial epidermoid cyst	biolink:OntologyClass	hp	UMLS:C4023045	A congenital inclusion cysts that arises from ectodermal cells that normally form skin cells being left behind in the nervous system during development.	http://purl.obolibrary.org/obo/HP_0012096		
OBO:HP_0012097	Intracranial dermoid cyst	biolink:OntologyClass	hp	UMLS:C4023044	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.	http://purl.obolibrary.org/obo/HP_0012097		
OBO:HP_0012098	Edema of the dorsum of feet	biolink:OntologyClass	hp	SNOMEDCT_US:445124008|UMLS:C2919341	An abnormal accumulation of fluid beneath the skin on the back of the feet.	http://purl.obolibrary.org/obo/HP_0012098		Oedema of the dorsum of feet|Edema of dorsum of feet
OBO:HP_0012099	Abnormality of circulating catecholamine level	biolink:OntologyClass	hp	UMLS:C4021102	An abnormal catecholamine concentration in the blood.	http://purl.obolibrary.org/obo/HP_0012099		Catecholamine levels abnormal
OBO:HP_0012100	Abnormal circulating creatinine concentration	biolink:OntologyClass	hp	UMLS:C4021101	An abnormal concentration of creatinine in the blood.	http://purl.obolibrary.org/obo/HP_0012100		Abnormal blood creatinine level|Creatinine levels abnormal|Abnormal circulating creatinine level
OBO:HP_0012101	Decreased serum creatinine	biolink:OntologyClass	hp	SNOMEDCT_US:166715006|UMLS:C0428282	An abnormally reduced amount of creatinine in the blood.	http://purl.obolibrary.org/obo/HP_0012101		Decreased serum creatinine|Low blood creatinine level|Reduced creatinine levels
OBO:HP_0012102	Abnormal mitochondrial number	biolink:OntologyClass	hp	UMLS:C4023043	A deviation from the normal number of mitochondria per cell.	http://purl.obolibrary.org/obo/HP_0012102		
OBO:HP_0012103	Abnormality of the mitochondrion	biolink:OntologyClass	hp	UMLS:C4020732|UMLS:C4023042	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.	http://purl.obolibrary.org/obo/HP_0012103		Mitochondrial abnormalities
OBO:HP_0012104	Parietal cortical atrophy	biolink:OntologyClass	hp	UMLS:C4023041	Atrophy of the parietal cortex.	http://purl.obolibrary.org/obo/HP_0012104		
OBO:HP_0012105	Occipital cortical atrophy	biolink:OntologyClass	hp	UMLS:C4023040	Atrophy of the occipital cortex.	http://purl.obolibrary.org/obo/HP_0012105		
OBO:HP_0012106	Rhizomelic leg shortening	biolink:OntologyClass	hp	UMLS:C4023039	Disproportionate shortening of the proximal segment of the leg (i.e. the femur).	http://purl.obolibrary.org/obo/HP_0012106		
OBO:HP_0012107	Increased fibular diameter	biolink:OntologyClass	hp	UMLS:C4021100	Increased width of the cross sectional diameter of the fibula.	http://purl.obolibrary.org/obo/HP_0012107		Wide calf bone|Thick fibula|Thick fibulae|Wide fibula
OBO:HP_0012108	Open angle glaucoma	biolink:OntologyClass	hp	MSH:C562750|SNOMEDCT_US:77075001|UMLS:C0339573	A type of glaucoma defined by an open, normal appearing anterior chamber angle and raised intraocular pressure,	http://purl.obolibrary.org/obo/HP_0012108		Primary open angle glaucoma
OBO:HP_0012109	Angle closure glaucoma	biolink:OntologyClass	hp	SNOMEDCT_US:392288006|UMLS:C0017606	A type of glaucomatous optic neuropathy in an eye that has evidence of angle closure (i.e. significant iridotrabecular contact).	http://purl.obolibrary.org/obo/HP_0012109		Primary angle closure glaucoma
OBO:HP_0012110	Hypoplasia of the pons	biolink:OntologyClass	hp	UMLS:C1848529	Underdevelopment of the pons.	http://purl.obolibrary.org/obo/HP_0012110		Pontine hypoplasia
OBO:HP_0012111	Abnormality of circulating glucocorticoid level	biolink:OntologyClass	hp	UMLS:C4023038	An abnormality of the concentration of a glucocorticoid in the blood.	http://purl.obolibrary.org/obo/HP_0012111		
OBO:HP_0012112	Abnormal circulating corticosterone level	biolink:OntologyClass	hp	UMLS:C4023037	An abnormality of the concentration of corticosterone in the blood.	http://purl.obolibrary.org/obo/HP_0012112		Abnormality of circulating corticosterone level
OBO:HP_0012113	Abnormal circulating creatine concentration	biolink:OntologyClass	hp	UMLS:C4020731	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.	http://purl.obolibrary.org/obo/HP_0012113		Abnormality of creatine metabolism|Creatine metabolism abnormal
OBO:HP_0012114	Endometrial carcinoma	biolink:OntologyClass	hp	MSH:D016889|SNOMEDCT_US:254878006|UMLS:C0476089	A carcinoma of the endometrium, the mucous lining of the uterus.	http://purl.obolibrary.org/obo/HP_0012114		
OBO:HP_0012115	Hepatitis	biolink:OntologyClass	hp	MSH:D006505|SNOMEDCT_US:128241005|UMLS:C0019158	Inflammation of the liver.	http://purl.obolibrary.org/obo/HP_0012115		Liver inflammation
OBO:HP_0012116	Abnormal circulating albumin concentration	biolink:OntologyClass	hp	UMLS:C4023036	Deviation from normal concentration of albumin in the blood.	http://purl.obolibrary.org/obo/HP_0012116		Abnormal albumin level
OBO:HP_0012117	Hyperalbuminemia	biolink:OntologyClass	hp	SNOMEDCT_US:119248009|UMLS:C1142113	Elevation in the concentration of albumin in the blood.	http://purl.obolibrary.org/obo/HP_0012117		High albumin|High blood albumin levels|Hyperalbuminaemia
OBO:HP_0012118	Laryngeal carcinoma	biolink:OntologyClass	hp	SNOMEDCT_US:276975007|UMLS:C0595989	A carcinoma of the larynx.	http://purl.obolibrary.org/obo/HP_0012118		Cancer of the larynx|Laryngeal cancer
OBO:HP_0012119	Methemoglobinemia	biolink:OntologyClass	hp	MSH:D008708|SNOMEDCT_US:131171006|SNOMEDCT_US:38959009|UMLS:C0025637	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.	http://purl.obolibrary.org/obo/HP_0012119		
OBO:HP_0012120	Methylmalonic aciduria	biolink:OntologyClass	hp	MSH:C537358|UMLS:C1855119	Increased concentration of methylmalonic acid in the urine.	http://purl.obolibrary.org/obo/HP_0012120		High blood methylmalonic acid levels|Methymalonicaciduria
OBO:HP_0012121	Panuveitis	biolink:OntologyClass	hp	MSH:D015864|SNOMEDCT_US:75614007|UMLS:C0030343	Inflammation of the uveal tract in which inflammation affects the anterior chamber, vitreous, retina or choroid.	http://purl.obolibrary.org/obo/HP_0012121		
OBO:HP_0012122	Anterior uveitis	biolink:OntologyClass	hp	SNOMEDCT_US:4927003|UMLS:C0701807	Inflammation of the uveal tract in which the primary site of inflammation is the anterior chamber.	http://purl.obolibrary.org/obo/HP_0012122		
OBO:HP_0012123	Posterior uveitis	biolink:OntologyClass	hp	MSH:D002833|MSH:D015866|SNOMEDCT_US:16553002|SNOMEDCT_US:43363007|UMLS:C0008526|UMLS:C0042167	Inflammation of the uveal tract in which the primary site of inflammation is the retina or choroid.	http://purl.obolibrary.org/obo/HP_0012123		Choroiditis
OBO:HP_0012124	Intermediate uveitis	biolink:OntologyClass	hp	MSH:D015867|SNOMEDCT_US:314429009|UMLS:C0042166	Inflammation of the uveal tract in which the primary site of inflammation is the vitreous.	http://purl.obolibrary.org/obo/HP_0012124		
OBO:HP_0012125	Prostate cancer	biolink:OntologyClass	hp	MSH:D011471|SNOMEDCT_US:399068003|UMLS:C0376358	A cancer of the prostate.	http://purl.obolibrary.org/obo/HP_0012125		Prostatic cancer
OBO:HP_0012126	Stomach cancer	biolink:OntologyClass	hp	SNOMEDCT_US:372143007|UMLS:C0699791	A cancer arising in any part of the stomach.	http://purl.obolibrary.org/obo/HP_0012126		Gastric cancer
OBO:HP_0012127	Uraciluria	biolink:OntologyClass	hp	UMLS:C4021833	Increased concentration of uracil in the urine.	http://purl.obolibrary.org/obo/HP_0012127		High urine uracil levels
OBO:HP_0012128	Basal ganglia necrosis	biolink:OntologyClass	hp	UMLS:C4023035	Death of cells in the basal ganglia.	http://purl.obolibrary.org/obo/HP_0012128		
OBO:HP_0012129	Abnormality of bone marrow stromal cells	biolink:OntologyClass	hp	UMLS:C4023034		http://purl.obolibrary.org/obo/HP_0012129		
OBO:HP_0012130	Abnormal erythroid lineage cell morphology	biolink:OntologyClass	hp	UMLS:C4020862	An anomaly of erythroid lineage cells, that is, of the erythropoietic cells in the lineage leading to and including erythrocytes.	http://purl.obolibrary.org/obo/HP_0012130		Abnormality of cells of the erythroid lineage
OBO:HP_0012131	Abnormal number of erythroid precursors	biolink:OntologyClass	hp	UMLS:C4023033	A deviation from the normal count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.	http://purl.obolibrary.org/obo/HP_0012131		
OBO:HP_0012132	Erythroid hyperplasia	biolink:OntologyClass	hp	UMLS:C0014800|UMLS:C1838111|UMLS:C3552917	Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.	http://purl.obolibrary.org/obo/HP_0012132		Bone marrow biopsy shows erythroid hyperplasia|Bone marrow smear shows erythroid hyperplasia
OBO:HP_0012133	Erythroid hypoplasia	biolink:OntologyClass	hp	MSH:D000741|SNOMEDCT_US:167923006|SNOMEDCT_US:41614006|UMLS:C0178416|UMLS:C0542035	Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.	http://purl.obolibrary.org/obo/HP_0012133		Erythroblastopenia|Erythroid hypoplasia in the bone marrow
OBO:HP_0012134	Dysplastic erythropoesis	biolink:OntologyClass	hp	UMLS:C4023032		http://purl.obolibrary.org/obo/HP_0012134		
OBO:HP_0012135	Abnormal granulocytopoietic cell morphology	biolink:OntologyClass	hp	UMLS:C4023031	An anomaly of cells involved in the formation of a granulocytes, that is, of the granulocytopoietic cell.	http://purl.obolibrary.org/obo/HP_0012135		Abnormality of cells of the granulocytic lineage
OBO:HP_0012136	Dysplastic granulopoesis	biolink:OntologyClass	hp	UMLS:C4023030		http://purl.obolibrary.org/obo/HP_0012136		
OBO:HP_0012137	Abnormal number of granulocyte precursors	biolink:OntologyClass	hp	UMLS:C4023029		http://purl.obolibrary.org/obo/HP_0012137		
OBO:HP_0012138	Granulocytic hyperplasia	biolink:OntologyClass	hp	UMLS:C4023028		http://purl.obolibrary.org/obo/HP_0012138		
OBO:HP_0012139	Granulocytic hypoplasia	biolink:OntologyClass	hp	SNOMEDCT_US:416627004|UMLS:C1534864	Decreased number of granulocyte precursors in the bone marrow.	http://purl.obolibrary.org/obo/HP_0012139		
OBO:HP_0012140	obsolete Abnormality of cells of the lymphoid lineage	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0012140		
OBO:HP_0012142	Pancreatic squamous cell carcinoma	biolink:OntologyClass	hp	UMLS:C2675993	A subtype of ductal pancreatic carcinoma that is thought to originate from squamous metaplasia of pancreatic ductal epithelium.	http://purl.obolibrary.org/obo/HP_0012142		Squamous cell carcinoma of the pancreas
OBO:HP_0012143	Abnormal megakaryocyte morphology	biolink:OntologyClass	hp	UMLS:C4023026	Any structural anomaly of megakaryocytes. Mature blood platelets are released from the cytoplasm of megakaryocytes, which are bone-marrow resident cells.	http://purl.obolibrary.org/obo/HP_0012143		Abnormality of cells of the megakaryocyte lineage
OBO:HP_0012144	Abnormal monocyte morphology	biolink:OntologyClass	hp	UMLS:C4023025	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.	http://purl.obolibrary.org/obo/HP_0012144		
OBO:HP_0012145	Abnormality of multiple cell lineages in the bone marrow	biolink:OntologyClass	hp	UMLS:C4023024		http://purl.obolibrary.org/obo/HP_0012145		
OBO:HP_0012146	Abnormality of von Willebrand factor	biolink:OntologyClass	hp	UMLS:C4023023	Decreased quantity or activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces.	http://purl.obolibrary.org/obo/HP_0012146		
OBO:HP_0012147	Reduced quantity of Von Willebrand factor	biolink:OntologyClass	hp	UMLS:C1841816|UMLS:C4023022	Decreased quantity of von Willebrand factor.	http://purl.obolibrary.org/obo/HP_0012147		Decreased von Willebrand factor
OBO:HP_0012148	Multiple lineage myelodysplasia	biolink:OntologyClass	hp	UMLS:C4023021	Myelodysplasia with dysplastic changes in two or more of the myeloid lineages: erythroid, granulocytic, megakaryocytic.	http://purl.obolibrary.org/obo/HP_0012148		
OBO:HP_0012149	Bilineage myelodysplasia	biolink:OntologyClass	hp	UMLS:C4023020	Myelodysplasia with dysplastic changes in two of the myeloid lineages: erythroid, granulocytic, megakaryocytic.	http://purl.obolibrary.org/obo/HP_0012149		
OBO:HP_0012150	Single lineage myelodysplasia	biolink:OntologyClass	hp	UMLS:C4023019	Abnormality/dysplasia of a single myeloid cell (erythroid, granulocytic, or megakaryocytic).	http://purl.obolibrary.org/obo/HP_0012150		
OBO:HP_0012151	Hemothorax	biolink:OntologyClass	hp	MSH:D006491|SNOMEDCT_US:31892009|UMLS:C0019123	The presence of blood in the pleural space.	http://purl.obolibrary.org/obo/HP_0012151		
OBO:HP_0012152	Foveoschisis	biolink:OntologyClass	hp	UMLS:C2674407	Splitting of the retinal layers in the macula.	http://purl.obolibrary.org/obo/HP_0012152		Retinoschisis involving the fovea
OBO:HP_0012153	Hypotriglyceridemia	biolink:OntologyClass	hp	UMLS:C0542037	An decrease in the level of triglycerides in the blood.	http://purl.obolibrary.org/obo/HP_0012153		Decreased circulating Tg levels|Decreased plasma Tg levels|Low blood triglyceride levels
OBO:HP_0012154	Anhedonia	biolink:OntologyClass	hp	MSH:D059445|SNOMEDCT_US:247796005|SNOMEDCT_US:28669007|UMLS:C0178417	Inability to experience pleasure activities usually found enjoyable.	http://purl.obolibrary.org/obo/HP_0012154		
OBO:HP_0012155	Decreased corneal sensation	biolink:OntologyClass	hp	SNOMEDCT_US:373433005|UMLS:C0271292|UMLS:C0859996	Reduced ability of the cornea to respond to stimulation.	http://purl.obolibrary.org/obo/HP_0012155		Corneal hypaesthesia|Corneal hypesthesia|Reduced corneal sensation|Decreased corneal sensitivity
OBO:HP_0012156	Hemophagocytosis	biolink:OntologyClass	hp	SNOMEDCT_US:61070002|UMLS:C0876991	Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues.	http://purl.obolibrary.org/obo/HP_0012156		
OBO:HP_0012157	Subcortical cerebral atrophy	biolink:OntologyClass	hp	UMLS:C4023018	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.	http://purl.obolibrary.org/obo/HP_0012157		
OBO:HP_0012158	Carotid artery dissection	biolink:OntologyClass	hp	UMLS:C0338585	A separation (dissection) of the layers of the carotid artery wall.	http://purl.obolibrary.org/obo/HP_0012158		
OBO:HP_0012159	Internal carotid artery dissection	biolink:OntologyClass	hp	MSH:D020215|SNOMEDCT_US:705066004|UMLS:C0751815	A separation (dissection) of the layers of the internal carotid artery wall.	http://purl.obolibrary.org/obo/HP_0012159		
OBO:HP_0012160	Intracranial internal carotid artery dissection	biolink:OntologyClass	hp	UMLS:C4023017	A separation (dissection) of the layers of the intracranial portion of the internal carotid artery wall.	http://purl.obolibrary.org/obo/HP_0012160		
OBO:HP_0012161	External carotid artery dissection	biolink:OntologyClass	hp	UMLS:C4023016	A separation (dissection) of the layers of the external carotid artery wall.	http://purl.obolibrary.org/obo/HP_0012161		
OBO:HP_0012162	Common carotid artery dissection	biolink:OntologyClass	hp	UMLS:C4023015	A separation (dissection) of the layers of the common carotid artery wall.	http://purl.obolibrary.org/obo/HP_0012162		
OBO:HP_0012163	Carotid artery dilatation	biolink:OntologyClass	hp	SNOMEDCT_US:233988005|UMLS:C0340639	A dilatation (balooning or bulging out of the vessel wall) of a carotid artery.	http://purl.obolibrary.org/obo/HP_0012163		Carotid artery aneurysm
OBO:HP_0012164	Asterixis	biolink:OntologyClass	hp	MSH:D020820|SNOMEDCT_US:32838008|UMLS:C0232766	A clinical sign indicating a lapse of posture and is usually manifest by a bilateral flapping tremor at the wrist, metacarpophalangeal, and hip joints.	http://purl.obolibrary.org/obo/HP_0012164		
OBO:HP_0012165	Oligodactyly	biolink:OntologyClass	hp	UMLS:C3887496	A developmental defect resulting in the presence of fewer than the normal number of digits.	http://purl.obolibrary.org/obo/HP_0012165		
OBO:HP_0012166	Skin-picking	biolink:OntologyClass	hp	ICD-10:F63.3|UMLS:C1696701	Repetitive and compulsive picking of skin which results in tissue damage.	http://purl.obolibrary.org/obo/HP_0012166		Compulsive skin picking|Dermatillomania
OBO:HP_0012167	Hair-pulling	biolink:OntologyClass	hp	MSH:D014256|SNOMEDCT_US:17155009|UMLS:C0040953	A phenomenon in which persons repetitively pull out their own hair, resulting in noticeable hair loss.	http://purl.obolibrary.org/obo/HP_0012167		Trichotillomania
OBO:HP_0012168	Head-banging	biolink:OntologyClass	hp	MSH:D019956|SNOMEDCT_US:43954004|UMLS:C0018672	Habitual striking of one's own head against a surface such as a mattress or wall of a crib.	http://purl.obolibrary.org/obo/HP_0012168		Head-banging
OBO:HP_0012169	Self-biting	biolink:OntologyClass	hp	SNOMEDCT_US:248072009|UMLS:C0424375	Habitual biting of one's own body.	http://purl.obolibrary.org/obo/HP_0012169		
OBO:HP_0012170	Nail-biting	biolink:OntologyClass	hp	ICD-10:F98.8|MSH:D009259|SNOMEDCT_US:37298006|UMLS:C0027338	Habitual biting of one's own fingernails.	http://purl.obolibrary.org/obo/HP_0012170		Nail-biting|Onychophagia|Onychophagy
OBO:HP_0012171	Stereotypical hand wringing	biolink:OntologyClass	hp	UMLS:C4023014	Habitual clasping and squeezing of the hands.	http://purl.obolibrary.org/obo/HP_0012171		
OBO:HP_0012172	Stereotypical body rocking	biolink:OntologyClass	hp	UMLS:C4023013	Habitual repetitive movement of the body.	http://purl.obolibrary.org/obo/HP_0012172		
OBO:HP_0012173	Orthostatic tachycardia	biolink:OntologyClass	hp	UMLS:C4021099	An increase in heart rate with standing of 30 beats per minute or more.	http://purl.obolibrary.org/obo/HP_0012173		Postural tachycardia
OBO:HP_0012174	Glioblastoma multiforme	biolink:OntologyClass	hp	MSH:D005909|SNOMEDCT_US:393563007|SNOMEDCT_US:63634009|UMLS:C1621958	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.	http://purl.obolibrary.org/obo/HP_0012174		Glioblastoma
OBO:HP_0012175	Resistance to activated protein C	biolink:OntologyClass	hp	MSH:D020016|SNOMEDCT_US:421527008|UMLS:C0600433	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.	http://purl.obolibrary.org/obo/HP_0012175		Activated protein C resistance
OBO:HP_0012176	Abnormal natural killer cell morphology	biolink:OntologyClass	hp	UMLS:C4021098	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.	http://purl.obolibrary.org/obo/HP_0012176		Abnormal NK cells|Abnormality of natural killer cells
OBO:HP_0012177	Abnormal natural killer cell physiology	biolink:OntologyClass	hp	UMLS:C4023012	A functional anomaly of the natural killer cell.	http://purl.obolibrary.org/obo/HP_0012177		
OBO:HP_0012178	Reduced natural killer cell activity	biolink:OntologyClass	hp	UMLS:C1839969	Reduced ability of the natural killer cell to function in the adaptive immune response.	http://purl.obolibrary.org/obo/HP_0012178		
OBO:HP_0012179	Craniofacial dystonia	biolink:OntologyClass	hp	UMLS:C1851915|UMLS:C4023011|UMLS:C4072883	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.	http://purl.obolibrary.org/obo/HP_0012179		Abnormal craniofacial posture|Distorted craniofacial posture|Abnormal craniofacial muscle tone|Abnormal facial muscle tone|Facial Dystonia
OBO:HP_0012180	Cystic medial necrosis	biolink:OntologyClass	hp	MSH:C536230|SNOMEDCT_US:234021009|SNOMEDCT_US:42182000|SNOMEDCT_US:45894003|UMLS:C0392775	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.	http://purl.obolibrary.org/obo/HP_0012180		Arterial cystic medial necrosis
OBO:HP_0012181	Entrapment neuropathy	biolink:OntologyClass	hp	MSH:D009408|SNOMEDCT_US:45781009|UMLS:C1510429	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.	http://purl.obolibrary.org/obo/HP_0012181		
OBO:HP_0012182	Oropharyngeal squamous cell carcinoma	biolink:OntologyClass	hp	SNOMEDCT_US:423464009|SNOMEDCT_US:707585008|UMLS:C0280313	A squamous cell carcinoma that originates in the oropharnyx.	http://purl.obolibrary.org/obo/HP_0012182		
OBO:HP_0012183	Hyperplastic colonic polyposis	biolink:OntologyClass	hp	UMLS:C4023010	Presence of multiple hyperplastic polyps in the colon. Hyperplastic polyps are generally about 5 mm in size and show hyperplastic mucosal proliferation.	http://purl.obolibrary.org/obo/HP_0012183		
OBO:HP_0012184	Increased HDL cholesterol concentration	biolink:OntologyClass	hp	MSH:C564591|SNOMEDCT_US:238080004|UMLS:C0342883	An elevated concentration of high-density lipoprotein cholesterol (HDL) in the blood.	http://purl.obolibrary.org/obo/HP_0012184		High blood HDL level|Hyperalphalipoproteinemia|Increased circulating high-density lipoprotein levels
OBO:HP_0012185	Constrictive median neuropathy	biolink:OntologyClass	hp	UMLS:C4023009	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.	http://purl.obolibrary.org/obo/HP_0012185		Carpal tunnel syndrome
OBO:HP_0012186	Entrapment neuropathy of the ulnar nerve at elbow	biolink:OntologyClass	hp	UMLS:C4023008	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.	http://purl.obolibrary.org/obo/HP_0012186		
OBO:HP_0012187	Increased erythrocyte protoporphyrin concentration	biolink:OntologyClass	hp	UMLS:C4023007	An increased concentration of protoporphyrins in erythrocytes.	http://purl.obolibrary.org/obo/HP_0012187		
OBO:HP_0012188	Hyperemesis gravidarum	biolink:OntologyClass	hp	MSH:D006939|SNOMEDCT_US:14094001|UMLS:C0020450	Excessive vomiting in early pregnancy, leading to the loss of 5% or more of body weight.	http://purl.obolibrary.org/obo/HP_0012188		
OBO:HP_0012189	Hodgkin lymphoma	biolink:OntologyClass	hp	MSH:D006689|SNOMEDCT_US:118599009|SNOMEDCT_US:118602004|SNOMEDCT_US:118605002|SNOMEDCT_US:118606001|SNOMEDCT_US:14537002|SNOMEDCT_US:46923007|SNOMEDCT_US:70600005|SNOMEDCT_US:74189002|UMLS:C0019829	A type of lymphoma characterized microscopically by multinucleated Reed-Sternberg cells.	http://purl.obolibrary.org/obo/HP_0012189		Hodgkin disease|Hodgkin's lymphoma
OBO:HP_0012190	T-cell lymphoma	biolink:OntologyClass	hp	MSH:D016399|SNOMEDCT_US:109978004|SNOMEDCT_US:3172003|UMLS:C0079772	A type of lymphoma that originates in T-cells.	http://purl.obolibrary.org/obo/HP_0012190		T cell lymphoma
OBO:HP_0012191	B-cell lymphoma	biolink:OntologyClass	hp	MSH:D016393|SNOMEDCT_US:109979007|SNOMEDCT_US:1929004|SNOMEDCT_US:413616009|UMLS:C0079731	A type of lymphoma that originates in B-cells.	http://purl.obolibrary.org/obo/HP_0012191		B cell lymphoma
OBO:HP_0012192	Cutaneous T-cell lymphoma	biolink:OntologyClass	hp	MSH:D016410|SNOMEDCT_US:28054005|SNOMEDCT_US:400122007|UMLS:C0079773	A type of T-cell lymphoma that exhibits malignant infiltration of the skin.	http://purl.obolibrary.org/obo/HP_0012192		
OBO:HP_0012193	Anaplastic large-cell lymphoma	biolink:OntologyClass	hp	MSH:D017728|SNOMEDCT_US:277637000|SNOMEDCT_US:53237008|UMLS:C0206180	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.	http://purl.obolibrary.org/obo/HP_0012193		
OBO:HP_0012194	Episodic hemiplegia	biolink:OntologyClass	hp	UMLS:C1863061	Transient episodes of weakness of the arm, leg, and in some cases the face on one side of the body.	http://purl.obolibrary.org/obo/HP_0012194		
OBO:HP_0012195	Irregular respiration	biolink:OntologyClass	hp	SNOMEDCT_US:248585001|UMLS:C0425492	Uneven rhythm of breathing.	http://purl.obolibrary.org/obo/HP_0012195		Irregular respiratory rhythm
OBO:HP_0012196	Cheyne-Stokes respiration	biolink:OntologyClass	hp	MSH:D002639|SNOMEDCT_US:271824009|SNOMEDCT_US:309155007|UMLS:C0008039|UMLS:C1313952	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.	http://purl.obolibrary.org/obo/HP_0012196		Cheyne-Stokes breathing|Periodic respiration
OBO:HP_0012197	Insulinoma	biolink:OntologyClass	hp	MSH:D007340|SNOMEDCT_US:25324008|SNOMEDCT_US:302822000|UMLS:C0021670	A type of tumor of the pancreatic beta cells that secretes excess insulin and can result in hypoglycemia.	http://purl.obolibrary.org/obo/HP_0012197		Pancreatic insulinoma
OBO:HP_0012198	Juvenile colonic polyposis	biolink:OntologyClass	hp	UMLS:C4023006	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.	http://purl.obolibrary.org/obo/HP_0012198		
OBO:HP_0012199	Cluster headache	biolink:OntologyClass	hp	ICD-10:G44.0|MSH:D003027|SNOMEDCT_US:193031009|SNOMEDCT_US:193947008|SNOMEDCT_US:230473009|UMLS:C0009088	A type of headache characterized by repeated attacks of unilateral pain lasting 15 to 180 minutes and associated with local autonomic signs.	http://purl.obolibrary.org/obo/HP_0012199		
OBO:HP_0012200	Abnormality of prothrombin	biolink:OntologyClass	hp	UMLS:C4023005	An anomaly of clotting factor II, which is known as prothrombin, a vitamin K-dependent proenzyme that functions in the blood coagulation cascade.	http://purl.obolibrary.org/obo/HP_0012200		
OBO:HP_0012201	obsolete Reduced prothrombin activity	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0012201		
OBO:HP_0012202	Increased serum bile acid concentration	biolink:OntologyClass	hp	UMLS:C4023004	An increase in the concentration of bile acid in the blood.	http://purl.obolibrary.org/obo/HP_0012202		
OBO:HP_0012203	Onychomycosis	biolink:OntologyClass	hp	MSH:D014009|SNOMEDCT_US:414941008|UMLS:C0040261	A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split.	http://purl.obolibrary.org/obo/HP_0012203		
OBO:HP_0012204	Recurrent vulvovaginal candidiasis	biolink:OntologyClass	hp	UMLS:C4023003	Recurrent infection involving the vulva, vagina, and adjacent crural areas, whereby the causative agent belongs to the genus Candida.	http://purl.obolibrary.org/obo/HP_0012204		
OBO:HP_0012205	Globozoospermia	biolink:OntologyClass	hp	MSH:D000072660|SNOMEDCT_US:236818008|UMLS:C0403825	Any structural anomaly of the acrosome resulting in a round sperm head.	http://purl.obolibrary.org/obo/HP_0012205		
OBO:HP_0012206	Abnormal sperm motility	biolink:OntologyClass	hp	UMLS:C0855512	An anomaly of the mobility of ejaculated sperm.	http://purl.obolibrary.org/obo/HP_0012206		Abnormal sperm motility
OBO:HP_0012207	Reduced sperm motility	biolink:OntologyClass	hp	UMLS:C4023002	An abnormal reduction in the mobility of ejaculated sperm.	http://purl.obolibrary.org/obo/HP_0012207		Reduced sperm motility|Asthenospermia
OBO:HP_0012208	Immotile sperm	biolink:OntologyClass	hp	UMLS:C4023001	A lack of mobility of ejaculated sperm.	http://purl.obolibrary.org/obo/HP_0012208		Nonmotile sperm
OBO:HP_0012209	Juvenile myelomonocytic leukemia	biolink:OntologyClass	hp	MSH:D054429|SNOMEDCT_US:128832006|SNOMEDCT_US:277587001|SNOMEDCT_US:445227008|UMLS:C0349639	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.	http://purl.obolibrary.org/obo/HP_0012209		Juvenile myelomonocytic leukaemia
OBO:HP_0012210	Abnormal renal morphology	biolink:OntologyClass	hp	Fyler:4512|SNOMEDCT_US:44513007|UMLS:C0266292	Any structural anomaly of the kidney.	http://purl.obolibrary.org/obo/HP_0012210		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
OBO:HP_0012211	Abnormal renal physiology	biolink:OntologyClass	hp	SNOMEDCT_US:39539005|UMLS:C0151746	An abnormal functionality of the kidney.	http://purl.obolibrary.org/obo/HP_0012211		Abnormal kidney function|Kidney function issue|Abnormal renal function|Abnormality of renal physiology|Renal functional abnormality
OBO:HP_0012212	Abnormal glomerular filtration rate	biolink:OntologyClass	hp	UMLS:C0854050	An abnormally increased or reduced amount of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.	http://purl.obolibrary.org/obo/HP_0012212		Abnormal GFR
OBO:HP_0012213	Decreased glomerular filtration rate	biolink:OntologyClass	hp	UMLS:C0853068	An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.	http://purl.obolibrary.org/obo/HP_0012213		Decreased GFR|Impaired renal creatinine clearance|Reduced creatinine clearance
OBO:HP_0012214	Increased glomerular filtration rate	biolink:OntologyClass	hp	UMLS:C0856948	An abnormal rise in the volume of water filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.	http://purl.obolibrary.org/obo/HP_0012214		Increased GFR
OBO:HP_0012215	Testicular microlithiasis	biolink:OntologyClass	hp	MSH:C566478|SNOMEDCT_US:117261000119108|UMLS:C1864873	The deposition of calcium phosphate microliths within the seminiferous tubules.	http://purl.obolibrary.org/obo/HP_0012215		
OBO:HP_0012216	Entrapment neuropathy of suprascapular nerve	biolink:OntologyClass	hp	SNOMEDCT_US:230635000|UMLS:C0393890	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.	http://purl.obolibrary.org/obo/HP_0012216		Suprascapular nerve entrapment
OBO:HP_0012217	Increased urinary porphobilinogen	biolink:OntologyClass	hp	UMLS:C4023000	Increased concentration of porphobilinogen in the urine.	http://purl.obolibrary.org/obo/HP_0012217		
OBO:HP_0012218	Alveolar soft part sarcoma	biolink:OntologyClass	hp	MSH:D018234|SNOMEDCT_US:404056007|SNOMEDCT_US:88195001|UMLS:C0206657	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.	http://purl.obolibrary.org/obo/HP_0012218		
OBO:HP_0012219	Erythema nodosum	biolink:OntologyClass	hp	MSH:D004893|SNOMEDCT_US:32861005|UMLS:C0014743	An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral.	http://purl.obolibrary.org/obo/HP_0012219		
OBO:HP_0012220	Non-caseating epithelioid cell granulomatosis	biolink:OntologyClass	hp	UMLS:C4022999	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).	http://purl.obolibrary.org/obo/HP_0012220		
OBO:HP_0012221	Pretibial blistering	biolink:OntologyClass	hp	MSH:C535494|SNOMEDCT_US:67653003|UMLS:C0432321	A type of blistering that affects the skin of the tibial region.	http://purl.obolibrary.org/obo/HP_0012221		Pretibial epidermolysis bullosa
OBO:HP_0012222	Arachnoid hemangiomatosis	biolink:OntologyClass	hp	UMLS:C4022998	The presence of multiple hemangiomas in the arachnoid.	http://purl.obolibrary.org/obo/HP_0012222		
OBO:HP_0012223	Splenic rupture	biolink:OntologyClass	hp	MSH:D013161|SNOMEDCT_US:234506007|UMLS:C0038000	A breach of the capsule of the spleen.	http://purl.obolibrary.org/obo/HP_0012223		Ruptured spleen|Splenic rupture
OBO:HP_0012224	Circulating immune complexes	biolink:OntologyClass	hp	UMLS:C3887628	Persistence of immune complexes in the blood circulation.	http://purl.obolibrary.org/obo/HP_0012224		
OBO:HP_0012225	Oligodontia of primary teeth	biolink:OntologyClass	hp	UMLS:C4022997|UMLS:C4280316	Reduced number of primary teeth.	http://purl.obolibrary.org/obo/HP_0012225		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
OBO:HP_0012226	Ovarian teratoma	biolink:OntologyClass	hp	NCIT:C3403|SNOMEDCT_US:716077006|UMLS:C0280131	The presence of a teratoma in the ovary.	http://purl.obolibrary.org/obo/HP_0012226		
OBO:HP_0012227	Urethral stricture	biolink:OntologyClass	hp	MSH:D014525|SNOMEDCT_US:236647003|SNOMEDCT_US:76618002|UMLS:C0041974	Narrowing of the urethra associated with inflammation or scar tissue.	http://purl.obolibrary.org/obo/HP_0012227		
OBO:HP_0012228	Tension-type headache	biolink:OntologyClass	hp	ICD-10:G44.2|MSH:D018781|SNOMEDCT_US:398057008|SNOMEDCT_US:66551002|UMLS:C0033893	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.	http://purl.obolibrary.org/obo/HP_0012228		Tension-type headache
OBO:HP_0012229	CSF pleocytosis	biolink:OntologyClass	hp	MSH:D007964|SNOMEDCT_US:91454002|UMLS:C0151857	An increased white blood cell count in the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0012229		Cerebrospinal fluid pleocytosis|Increased leukocyte count in CSF
OBO:HP_0012230	Rhegmatogenous retinal detachment	biolink:OntologyClass	hp	SNOMEDCT_US:19620000|UMLS:C0271055	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.	http://purl.obolibrary.org/obo/HP_0012230		
OBO:HP_0012231	Exudative retinal detachment	biolink:OntologyClass	hp	SNOMEDCT_US:38599001|UMLS:C0154822	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.	http://purl.obolibrary.org/obo/HP_0012231		Serous retinal detachment
OBO:HP_0012232	Shortened QT interval	biolink:OntologyClass	hp	SNOMEDCT_US:77867006|UMLS:C0151879	Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).	http://purl.obolibrary.org/obo/HP_0012232		
OBO:HP_0012233	Intramuscular hematoma	biolink:OntologyClass	hp	SNOMEDCT_US:262969000|UMLS:C0240412	Blood clot formed within muscle tissue following leakage of blood into the tissue.	http://purl.obolibrary.org/obo/HP_0012233		IM hematoma|Intramuscular haematoma|Intramuscular hemorrhage|Intramuscular hematomas
OBO:HP_0012234	Agranulocytosis	biolink:OntologyClass	hp	UMLS:C0702094	Marked decrease in the number of granulocytes.	http://purl.obolibrary.org/obo/HP_0012234		
OBO:HP_0012235	Drug-induced agranulocytosis	biolink:OntologyClass	hp	SNOMEDCT_US:47318007|UMLS:C0272178	A type of agranulocytosis related to ingestion of a specific medication.	http://purl.obolibrary.org/obo/HP_0012235		
OBO:HP_0012236	Elevated sweat chloride	biolink:OntologyClass	hp	UMLS:C1856646	An increased concentration of chloride in the sweat.	http://purl.obolibrary.org/obo/HP_0012236		Elevated sweat Cl|Elevated sweat Cl-|Elevated sweat chloride
OBO:HP_0012237	Urocanic aciduria	biolink:OntologyClass	hp	MSH:C536479|SNOMEDCT_US:60952007|UMLS:C0268514	An increased concentration of urocanic acid in the urine.	http://purl.obolibrary.org/obo/HP_0012237		High urine urocanic acid levels
OBO:HP_0012238	Increased circulating chylomicron concentration	biolink:OntologyClass	hp	UMLS:C1535978	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.	http://purl.obolibrary.org/obo/HP_0012238		Hyperchylomicronemia|Increased chylomicrons|Increased circulating chylomicron levels
OBO:HP_0012239	Atransferrinemia	biolink:OntologyClass	hp	MSH:C538259|SNOMEDCT_US:111571009|UMLS:C0521802	Absence of transferrin, a protein that transports iron, in the blood.	http://purl.obolibrary.org/obo/HP_0012239		
OBO:HP_0012240	Increased intramyocellular lipid droplets	biolink:OntologyClass	hp	UMLS:C4020730	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.	http://purl.obolibrary.org/obo/HP_0012240		Increased muscle lipid droplets
OBO:HP_0012241	Levator palpebrae superioris atrophy	biolink:OntologyClass	hp	UMLS:C1851107	Atrophy of the levator palpebrae superioris, the extraocular muscle that elevates the superior eyelid.	http://purl.obolibrary.org/obo/HP_0012241		
OBO:HP_0012242	Superior rectus atrophy	biolink:OntologyClass	hp	UMLS:C1851108	Atrophy of the superior rectus, the extraocular muscle whose primary function is to elevate the globe.	http://purl.obolibrary.org/obo/HP_0012242		Rectus superior atrophy
OBO:HP_0012243	Abnormal reproductive system morphology	biolink:OntologyClass	hp	UMLS:C4021096	A structural or developmental anomaly of any of the tissues involved in the genital system.	http://purl.obolibrary.org/obo/HP_0012243		Abnormal genital system morphology
OBO:HP_0012244	Abnormal sex determination	biolink:OntologyClass	hp	UMLS:C4022996	Anomaly of primary or secondary sexual development or characteristics.	http://purl.obolibrary.org/obo/HP_0012244		
OBO:HP_0012245	Sex reversal	biolink:OntologyClass	hp	UMLS:C4022995	Development of the reproductive system is inconsistent with the chromosomal sex.	http://purl.obolibrary.org/obo/HP_0012245		
OBO:HP_0012246	Oculomotor nerve palsy	biolink:OntologyClass	hp	MSH:D015840|SNOMEDCT_US:388980004|UMLS:C0028866	Reduced ability to control the movement of the eye associated with damage to the third cranial nerve (the oculomotor nerve).	http://purl.obolibrary.org/obo/HP_0012246		Oculomotor neuropathy
OBO:HP_0012247	Specific anosmia	biolink:OntologyClass	hp	UMLS:C4022994	Anosmia for one particular odor.	http://purl.obolibrary.org/obo/HP_0012247		
OBO:HP_0012248	Prolonged PR interval	biolink:OntologyClass	hp	SNOMEDCT_US:164947007|UMLS:C0600125	Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex).	http://purl.obolibrary.org/obo/HP_0012248		Electrocardiographic long PR interval|Lengthened PR interval on EKG
OBO:HP_0012249	Abnormal ST segment	biolink:OntologyClass	hp	UMLS:C4022993	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.	http://purl.obolibrary.org/obo/HP_0012249		
OBO:HP_0012250	ST segment depression	biolink:OntologyClass	hp	SNOMEDCT_US:26141007|SNOMEDCT_US:429622005|UMLS:C0520887	An electrocardiographic anomaly in which the ST segment is observed to be located inferior to the isoelectric line.	http://purl.obolibrary.org/obo/HP_0012250		
OBO:HP_0012251	ST segment elevation	biolink:OntologyClass	hp	SNOMEDCT_US:164931005|SNOMEDCT_US:76388001|UMLS:C0520886	An electrocardiographic anomaly in which the ST segment is observed to be located superior to the isoelectric line.	http://purl.obolibrary.org/obo/HP_0012251		
OBO:HP_0012252	Abnormal respiratory system morphology	biolink:OntologyClass	hp	Fyler:4235|UMLS:C4022992	A structural anomaly of the respiratory system.	http://purl.obolibrary.org/obo/HP_0012252		
OBO:HP_0012253	Abnormal respiratory epithelium morphology	biolink:OntologyClass	hp	UMLS:C4022991	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.	http://purl.obolibrary.org/obo/HP_0012253		
OBO:HP_0012254	Ewing sarcoma	biolink:OntologyClass	hp	MSH:D012512|SNOMEDCT_US:76909002|UMLS:C0553580	A malignant tumor of the bone which always arises in the medullary tissue, occurring more often in cylindrical bones.	http://purl.obolibrary.org/obo/HP_0012254		Ewing sarcoma|Ewing's sarcoma
OBO:HP_0012255	Dynein arm defect of respiratory motile cilia	biolink:OntologyClass	hp	UMLS:C4022990	An anomaly of the dynein arms of motile cilia. This feature is usually appreciated by electron microscopy.	http://purl.obolibrary.org/obo/HP_0012255		
OBO:HP_0012256	Absent outer dynein arms	biolink:OntologyClass	hp	UMLS:C4022989	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.	http://purl.obolibrary.org/obo/HP_0012256		
OBO:HP_0012257	Absent inner dynein arms	biolink:OntologyClass	hp	UMLS:C4022988	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.	http://purl.obolibrary.org/obo/HP_0012257		
OBO:HP_0012258	Abnormal axonemal organization of respiratory motile cilia	biolink:OntologyClass	hp	UMLS:C4022987	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.	http://purl.obolibrary.org/obo/HP_0012258		Abnormal axonemal organisation of respiratory motile cilia
OBO:HP_0012259	Absent inner and outer dynein arms	biolink:OntologyClass	hp	UMLS:C4022986	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.	http://purl.obolibrary.org/obo/HP_0012259		
OBO:HP_0012260	Abnormal central microtubular pair morphology of respiratory motile cilia	biolink:OntologyClass	hp	UMLS:C4022985	A structural anomaly of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration.	http://purl.obolibrary.org/obo/HP_0012260		
OBO:HP_0012261	Abnormal respiratory motile cilium physiology	biolink:OntologyClass	hp	UMLS:C4022984	Any functional anomaly of the respiratory motile cilia.	http://purl.obolibrary.org/obo/HP_0012261		
OBO:HP_0012262	Abnormal ciliary motility	biolink:OntologyClass	hp	UMLS:C4022983	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.	http://purl.obolibrary.org/obo/HP_0012262		
OBO:HP_0012263	Immotile cilia	biolink:OntologyClass	hp	UMLS:C1855672		http://purl.obolibrary.org/obo/HP_0012263		
OBO:HP_0012264	Absent central microtubular pair morphology of respiratory motile cilia	biolink:OntologyClass	hp	UMLS:C4022982	Absence of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration.	http://purl.obolibrary.org/obo/HP_0012264		
OBO:HP_0012265	Ciliary dyskinesia	biolink:OntologyClass	hp	MSH:D002925|SNOMEDCT_US:86204009|UMLS:C0008780	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.	http://purl.obolibrary.org/obo/HP_0012265		
OBO:HP_0012266	T-wave alternans	biolink:OntologyClass	hp	SNOMEDCT_US:428550008|UMLS:C1998313	A periodic beat-to-beat variation in the amplitude or shape of the T wave in an EKG.	http://purl.obolibrary.org/obo/HP_0012266		
OBO:HP_0012267	Absent respiratory ciliary axoneme radial spokes	biolink:OntologyClass	hp	UMLS:C4022981	Absence of the radial spokes of the axoneme of the respiratory cilium.	http://purl.obolibrary.org/obo/HP_0012267		
OBO:HP_0012268	Myxoid liposarcoma	biolink:OntologyClass	hp	MSH:D018208|SNOMEDCT_US:27849002|SNOMEDCT_US:404069006|UMLS:C0206634	A liposarcoma that contains myxomatous tissue.	http://purl.obolibrary.org/obo/HP_0012268		
OBO:HP_0012269	Abnormal muscle glycogen content	biolink:OntologyClass	hp	UMLS:C4022980	Any anomaly in the amount of glycogen in muscle tissue.	http://purl.obolibrary.org/obo/HP_0012269		
OBO:HP_0012270	Decreased muscle glycogen content	biolink:OntologyClass	hp	UMLS:C4022979	A decreased amount of glycogen in muscle tissue.	http://purl.obolibrary.org/obo/HP_0012270		
OBO:HP_0012271	Episodic upper airway obstruction	biolink:OntologyClass	hp	UMLS:C4022978	Intermittent episodes of increased resistance to the passage of air in the upper airway.	http://purl.obolibrary.org/obo/HP_0012271		
OBO:HP_0012272	J wave	biolink:OntologyClass	hp	UMLS:C4018858	The J wave is a positive convex deflection that occurs at the junction of the QRS complex and ST segment, the J-point.	http://purl.obolibrary.org/obo/HP_0012272		EKG J waves|Osborne waves
OBO:HP_0012273	Increased carotid artery intimal medial thickness	biolink:OntologyClass	hp	UMLS:C4022977	An increase in the combined thickness of the intima and media of the carotid artery.	http://purl.obolibrary.org/obo/HP_0012273		
OBO:HP_0012274	Autosomal dominant inheritance with paternal imprinting	biolink:OntologyClass	hp	UMLS:C4022976	A type of autosomal dominant inheritance involving a gene that is imprinted with paternal silencing.	http://purl.obolibrary.org/obo/HP_0012274		
OBO:HP_0012275	Autosomal dominant inheritance with maternal imprinting	biolink:OntologyClass	hp	UMLS:C4022975	A type of autosomal dominant inheritance involving a gene that is imprinted with maternal silencing.	http://purl.obolibrary.org/obo/HP_0012275		
OBO:HP_0012276	Digital flexor tenosynovitis	biolink:OntologyClass	hp	UMLS:C4022974	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.	http://purl.obolibrary.org/obo/HP_0012276		Trigger finger
OBO:HP_0012277	Hypoglycinemia	biolink:OntologyClass	hp	UMLS:C4022973	An abnormally reduced concentration of glycine in the blood.	http://purl.obolibrary.org/obo/HP_0012277		Low blood glycine levels
OBO:HP_0012278	Abnormal circulating serine concentration	biolink:OntologyClass	hp	UMLS:C4022972	Any deviation from the normal concentration of serine in the blood circulation.	http://purl.obolibrary.org/obo/HP_0012278		
OBO:HP_0012279	Hyposerinemia	biolink:OntologyClass	hp	UMLS:C4022971	Reduced concentration of serine in the blood.	http://purl.obolibrary.org/obo/HP_0012279		Low blood serine levels
OBO:HP_0012280	Hepatic amyloidosis	biolink:OntologyClass	hp	SNOMEDCT_US:9551004|UMLS:C0267839	A form of amyloidosis that affects the liver.	http://purl.obolibrary.org/obo/HP_0012280		
OBO:HP_0012281	Chylous ascites	biolink:OntologyClass	hp	MSH:D002915|SNOMEDCT_US:52985009|UMLS:C0008732	Extravasation of chyle into the peritoneal cavity.	http://purl.obolibrary.org/obo/HP_0012281		Chyloperitoneum
OBO:HP_0012282	Morbilliform rash	biolink:OntologyClass	hp	SNOMEDCT_US:247470007|SNOMEDCT_US:50495000|UMLS:C0234918	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.	http://purl.obolibrary.org/obo/HP_0012282		
OBO:HP_0012283	Small distal femoral epiphysis	biolink:OntologyClass	hp	UMLS:C4022970	Reduced size of the Distal epiphysis of femur.	http://purl.obolibrary.org/obo/HP_0012283		Small end part of outermost thighbone
OBO:HP_0012284	Small proximal tibial epiphyses	biolink:OntologyClass	hp	UMLS:C4022969	Reduced size of the proximal epiphysis of the tibia.	http://purl.obolibrary.org/obo/HP_0012284		Small end part of innermost shankbone|Small end part of innermost shinbone
OBO:HP_0012285	Abnormal hypothalamus physiology	biolink:OntologyClass	hp	UMLS:C4022968	An abnormal functionality of the hypothalamus.	http://purl.obolibrary.org/obo/HP_0012285		
OBO:HP_0012286	Abnormal hypothalamus morphology	biolink:OntologyClass	hp	UMLS:C4021095	Any structural anomaly of the hypothalamus.	http://purl.obolibrary.org/obo/HP_0012286		Abnormal shape of hypothalamus|Abnormality of hypothalamus morphology|Abnormality of the hypothalamus
OBO:HP_0012287	Hypothalamic luteinizing hormone-releasing hormone deficiency	biolink:OntologyClass	hp	UMLS:C4022967	Decreased secretion of luteinizing hormone-releasing hormone by the hypothalamus.	http://purl.obolibrary.org/obo/HP_0012287		
OBO:HP_0012288	Neoplasm of head and neck	biolink:OntologyClass	hp	MSH:D006258|SNOMEDCT_US:255055008|SNOMEDCT_US:255056009|UMLS:C0018671|UMLS:C0278996	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.	http://purl.obolibrary.org/obo/HP_0012288		Head and neck tumor|Head and neck cancer
OBO:HP_0012289	Facial neoplasm	biolink:OntologyClass	hp	MSH:D005153|NCIT:C3262|SNOMEDCT_US:126632002|UMLS:C0015461	A tumor (abnormal growth of tissue) of the face.	http://purl.obolibrary.org/obo/HP_0012289		Face tumor
OBO:HP_0012290	Mouth neoplasm	biolink:OntologyClass	hp	MSH:D009062|NCIT:C3262|SNOMEDCT_US:126797001|SNOMEDCT_US:235075007|UMLS:C0026640	A tumor (abnormal growth of tissue) of the mouth.	http://purl.obolibrary.org/obo/HP_0012290		Mouth tumor|Lesion of mouth|Neoplasm of the mouth
OBO:HP_0012291	obsolete Tracheal neoplasm	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0012291		
OBO:HP_0012292	Fusion of gums	biolink:OntologyClass	hp	UMLS:C4022966	A congenital defect with an abnormal joining of the gums of the upper and lower jaw.	http://purl.obolibrary.org/obo/HP_0012292		Fusion of gums|Partial fusion of the gums|Upper and lower gums fused together|Fusion of the gingiva|Gingival synechia|Synechia of the gums
OBO:HP_0012293	Abnormal genital pigmentation	biolink:OntologyClass	hp	UMLS:C4022965	An abnormal pigmentation pattern of the external genitalia.	http://purl.obolibrary.org/obo/HP_0012293		
OBO:HP_0012294	Abnormality of the occipital bone	biolink:OntologyClass	hp	UMLS:C4022964	Abnormality of the occipital bone of the skull.	http://purl.obolibrary.org/obo/HP_0012294		
OBO:HP_0012295	Slender middle phalanx of finger	biolink:OntologyClass	hp	UMLS:C4022963	Reduced diameter of the middle phalanx of finger.	http://purl.obolibrary.org/obo/HP_0012295		Slender middle bone of finger
OBO:HP_0012296	Slender distal phalanx of finger	biolink:OntologyClass	hp	UMLS:C4022962	Reduced diameter of the distal phalanx of finger.	http://purl.obolibrary.org/obo/HP_0012296		Slender outermost bone of finger
OBO:HP_0012297	Slender proximal phalanx of finger	biolink:OntologyClass	hp	UMLS:C4022961	Reduced diameter of the proximal phalanx of finger.	http://purl.obolibrary.org/obo/HP_0012297		Slender innermost bone of finger
OBO:HP_0012298	Long middle phalanx of finger	biolink:OntologyClass	hp	UMLS:C4022960	Increased length of the middle phalanx of finger.	http://purl.obolibrary.org/obo/HP_0012298		Long middle bone of finger
OBO:HP_0012299	Long distal phalanx of finger	biolink:OntologyClass	hp	UMLS:C4021865	Increased length of the distal phalanx of finger.	http://purl.obolibrary.org/obo/HP_0012299		Long outermost bone of finger
OBO:HP_0012300	Ureteral agenesis	biolink:OntologyClass	hp	UMLS:C4022959	Failure of the ureter to undergo development.	http://purl.obolibrary.org/obo/HP_0012300		
OBO:HP_0012301	Type II transferrin isoform profile	biolink:OntologyClass	hp	UMLS:C4021094	Abnormal transferrin isoform profile consistent with a type II congenital disorder of glycosylation.	http://purl.obolibrary.org/obo/HP_0012301		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
OBO:HP_0012302	Herpes simplex encephalitis	biolink:OntologyClass	hp	MSH:D020803|SNOMEDCT_US:428638009|UMLS:C0276226	A severe virus infection of the central nervous system by the herpes simplex virus (HSV).	http://purl.obolibrary.org/obo/HP_0012302		
OBO:HP_0012303	Abnormal aortic arch morphology	biolink:OntologyClass	hp	Fyler:2700|SNOMEDCT_US:448742006|UMLS:C3163801	An anomaly of the arch of aorta.	http://purl.obolibrary.org/obo/HP_0012303		Abnormality of the aortic arch
OBO:HP_0012304	Hypoplastic aortic arch	biolink:OntologyClass	hp	Fyler:2704|SNOMEDCT_US:60787001|UMLS:C0265881	Underdevelopment of the arch of aorta.	http://purl.obolibrary.org/obo/HP_0012304		Underdeveloped aortic arch|Aortic arch hypoplasia
OBO:HP_0012305	Coarctation of the descending aortic arch	biolink:OntologyClass	hp	UMLS:C4022958	Narrowing or constriction of the aorta localized to the region of the descending trunk of arch of aorta.	http://purl.obolibrary.org/obo/HP_0012305		
OBO:HP_0012306	Abnormal rib ossification	biolink:OntologyClass	hp	UMLS:C4022957	An anomaly of the process of rib bone formation.	http://purl.obolibrary.org/obo/HP_0012306		Abnormal maturation of rib bones
OBO:HP_0012307	Spatulate ribs	biolink:OntologyClass	hp	UMLS:C1856637	Ribs that are increased in width and taper to the posterior ends.	http://purl.obolibrary.org/obo/HP_0012307		
OBO:HP_0012308	Decreased serum complement C9	biolink:OntologyClass	hp	UMLS:C4021093	A reduced level of the complement component C9 in circulation.	http://purl.obolibrary.org/obo/HP_0012308		Decreased serum C9
OBO:HP_0012309	Cutaneous amyloidosis	biolink:OntologyClass	hp	MSH:C562642|SNOMEDCT_US:201337008|SNOMEDCT_US:281882003|SNOMEDCT_US:282834007|SNOMEDCT_US:718105008|UMLS:C0268397	The presence of amyloid deposition in the superficial dermis.	http://purl.obolibrary.org/obo/HP_0012309		
OBO:HP_0012310	Abnormal monocyte count	biolink:OntologyClass	hp	SNOMEDCT_US:165540007|SNOMEDCT_US:165541006|UMLS:C0580319	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.	http://purl.obolibrary.org/obo/HP_0012310		Abnormal monocyte number
OBO:HP_0012311	Monocytosis	biolink:OntologyClass	hp	SNOMEDCT_US:19636003|UMLS:C0085702	An increased number of circulating monocytes.	http://purl.obolibrary.org/obo/HP_0012311		High blood monocyte number
OBO:HP_0012312	Monocytopenia	biolink:OntologyClass	hp	SNOMEDCT_US:165539005|UMLS:C0427544	An decreased number of circulating monocytes.	http://purl.obolibrary.org/obo/HP_0012312		Low blood monocyte number
OBO:HP_0012313	Heberden's node	biolink:OntologyClass	hp	SNOMEDCT_US:371598009|UMLS:C0018862	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.	http://purl.obolibrary.org/obo/HP_0012313		
OBO:HP_0012314	Bouchard's node	biolink:OntologyClass	hp	SNOMEDCT_US:20243008|UMLS:C0263780	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.	http://purl.obolibrary.org/obo/HP_0012314		
OBO:HP_0012315	Histiocytoma	biolink:OntologyClass	hp	MSH:D051642|SNOMEDCT_US:128741006|SNOMEDCT_US:302843004|UMLS:C1509147	A neoplasm containing histiocytes.	http://purl.obolibrary.org/obo/HP_0012315		
OBO:HP_0012316	Fibrous tissue neoplasm	biolink:OntologyClass	hp	MSH:D018218|UMLS:C0206643	Any neoplasm composed of fibrous tissue.	http://purl.obolibrary.org/obo/HP_0012316		
OBO:HP_0012317	Sacroiliac arthritis	biolink:OntologyClass	hp	MSH:C563037|UMLS:C0748473	Inflammation of the sacroiliac joint, generally accompanied by lower back pain.	http://purl.obolibrary.org/obo/HP_0012317		Sacroiliitis
OBO:HP_0012318	Occipital neuralgia	biolink:OntologyClass	hp	SNOMEDCT_US:71760005|UMLS:C0007863	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.	http://purl.obolibrary.org/obo/HP_0012318		
OBO:HP_0012319	Absent pigmentation of the abdomen	biolink:OntologyClass	hp	UMLS:C4022956	Lack of skin pigmentation (coloring) of the abdomen.	http://purl.obolibrary.org/obo/HP_0012319		
OBO:HP_0012320	Absent pigmentation of the limbs	biolink:OntologyClass	hp	UMLS:C4022955	Lack of skin pigmentation (coloring) of the arms and legs.	http://purl.obolibrary.org/obo/HP_0012320		
OBO:HP_0012321	D-2-hydroxyglutaric aciduria	biolink:OntologyClass	hp	SNOMEDCT_US:237960000|UMLS:C1833429	An increased concentration of 2-hydroxyglutaric acid in the urine.	http://purl.obolibrary.org/obo/HP_0012321		
OBO:HP_0012322	Perifolliculitis	biolink:OntologyClass	hp	SNOMEDCT_US:83341004|UMLS:C0263006	Inflammation surrounding hair follicles.	http://purl.obolibrary.org/obo/HP_0012322		Perifollicular inflammation
OBO:HP_0012323	Sleep myoclonus	biolink:OntologyClass	hp	MSH:D009207|SNOMEDCT_US:34101000119105|UMLS:C0751352	Myoclonus that occurs during the initial phases of sleep.	http://purl.obolibrary.org/obo/HP_0012323		
OBO:HP_0012324	Myeloid leukemia	biolink:OntologyClass	hp	MSH:D007951|SNOMEDCT_US:128934006|SNOMEDCT_US:188732008|SNOMEDCT_US:37810007|UMLS:C0023470	A leukemia that originates from a myeloid cell, that is the blood forming cells of the bone marrow.	http://purl.obolibrary.org/obo/HP_0012324		Myeloid leukaemia
OBO:HP_0012325	Chronic myelomonocytic leukemia	biolink:OntologyClass	hp	MSH:D015477|SNOMEDCT_US:127225006|SNOMEDCT_US:128831004|UMLS:C0023480	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.	http://purl.obolibrary.org/obo/HP_0012325		Chronic myelomonocytic leukaemia
OBO:HP_0012326	Abnormal celiac artery morphology	biolink:OntologyClass	hp	UMLS:C4022954	An anomaly of the celiac artery.	http://purl.obolibrary.org/obo/HP_0012326		Abnormal coeliac artery morphology|Abnormality of the celiac artery
OBO:HP_0012327	Celiac artery compression	biolink:OntologyClass	hp	SNOMEDCT_US:9250002|UMLS:C0152098|UMLS:C4020693	Compression of the celiac artery.	http://purl.obolibrary.org/obo/HP_0012327		Coeliac artery compression|Celiac axis syndrome|Dunbar syndrome|Median arcuate ligament syndrome
OBO:HP_0012328	Cementoma	biolink:OntologyClass	hp	MSH:D002485|SNOMEDCT_US:23255001|SNOMEDCT_US:37258009|UMLS:C0007659	An odontogenic tumor of the cementum of tooth.	http://purl.obolibrary.org/obo/HP_0012328		
OBO:HP_0012329	Tufted angioma	biolink:OntologyClass	hp	MSH:C536924|SNOMEDCT_US:254786000|SNOMEDCT_US:705155008|UMLS:C0346073	A vascular tumor of the skin and subcutaneous tissues and characterized by slow angiomatous proliferation.	http://purl.obolibrary.org/obo/HP_0012329		Angioblastoma|Angioblastoma of Nakagawa|Hypertrophic hemangioma|Progressive capillary hemangioma|Tufted hemangioma
OBO:HP_0012330	Pyelonephritis	biolink:OntologyClass	hp	MSH:D011704|SNOMEDCT_US:45816000|UMLS:C0034186	An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices.	http://purl.obolibrary.org/obo/HP_0012330		
OBO:HP_0012331	Abnormal autonomic nervous system morphology	biolink:OntologyClass	hp	UMLS:C4022953	A structural abnormality of the autonomic nervous system.	http://purl.obolibrary.org/obo/HP_0012331		
OBO:HP_0012332	Abnormal autonomic nervous system physiology	biolink:OntologyClass	hp	UMLS:C4022952	A functional abnormality of the autonomic nervous system.	http://purl.obolibrary.org/obo/HP_0012332		Autonomic dysfunction|Autonomic dysregulation|Dysautonomia
OBO:HP_0012333	Abnormal sudomotor regulation	biolink:OntologyClass	hp	UMLS:C4021092	An abnormal regulation of the sweat glands by the sympathetic nervous system associated with abnormal perspiration.	http://purl.obolibrary.org/obo/HP_0012333		Sudomotor sympathetic dysfunction
OBO:HP_0012334	Extrahepatic cholestasis	biolink:OntologyClass	hp	MSH:D001651|SNOMEDCT_US:20719006|SNOMEDCT_US:8262006|UMLS:C0005398	Impairment of bile flow due to obstruction in large bile ducts outside the liver.	http://purl.obolibrary.org/obo/HP_0012334		
OBO:HP_0012335	Abnormality of folate metabolism	biolink:OntologyClass	hp	UMLS:C4022951	An abnormality of the metabolism of folic acid, which is also known as vitamin B9.	http://purl.obolibrary.org/obo/HP_0012335		
OBO:HP_0012336	obsolete Reduced cerebrospinal fluid 5-methyltetrahydrofolate concentration	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0012336		
OBO:HP_0012337	Abnormal homeostasis	biolink:OntologyClass	hp	MP:0001764|UMLS:C4022950	An anomaly in the processes involved in the maintenance of an internal equilibrium.	http://purl.obolibrary.org/obo/HP_0012337		
OBO:HP_0012338	Abnormal energy expenditure	biolink:OntologyClass	hp	UMLS:C4022949	Any anomaly in the utilization of energy (calories).	http://purl.obolibrary.org/obo/HP_0012338		Abnormal energy expenditure
OBO:HP_0012339	Increased resting energy expenditure	biolink:OntologyClass	hp	UMLS:C4022948	An increase in the number of calories used per unit time.	http://purl.obolibrary.org/obo/HP_0012339		
OBO:HP_0012340	Decreased resting energy expenditure	biolink:OntologyClass	hp	UMLS:C4022947	A reduction in the number of calories used per unit time.	http://purl.obolibrary.org/obo/HP_0012340		
OBO:HP_0012341	Microprolactinoma	biolink:OntologyClass	hp	MSH:D015175|SNOMEDCT_US:253010003|UMLS:C0344452	A pituitary prolactin cell adenoma of less than 10 mm diameter.	http://purl.obolibrary.org/obo/HP_0012341		
OBO:HP_0012342	Macroprolactinoma	biolink:OntologyClass	hp	MSH:D015175|SNOMEDCT_US:253011004|UMLS:C0344453	A pituitary prolactin cell adenoma of more than 10 mm diameter.	http://purl.obolibrary.org/obo/HP_0012342		
OBO:HP_0012343	Decreased circulating ferritin concentration	biolink:OntologyClass	hp	UMLS:C0241012	Abnormally reduced concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood.	http://purl.obolibrary.org/obo/HP_0012343		Decreased serum ferritin|Low ferritin level|Reduced serum ferritin|Decreased plasma ferritin
OBO:HP_0012344	Morphea	biolink:OntologyClass	hp	MSH:D012594|SNOMEDCT_US:201049004|UMLS:C1527383	Isolated patches of hardened skin (scleroderma).	http://purl.obolibrary.org/obo/HP_0012344		
OBO:HP_0012345	Abnormal glycosylation	biolink:OntologyClass	hp	UMLS:C4022946	An anomaly of a glycosylation process, i.e., a process involved in the covalent attachment of a glycosyl residue to a substrate molecule.	http://purl.obolibrary.org/obo/HP_0012345		
OBO:HP_0012346	Abnormal protein glycosylation	biolink:OntologyClass	hp	UMLS:C4022945	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.	http://purl.obolibrary.org/obo/HP_0012346		
OBO:HP_0012347	Abnormal protein N-linked glycosylation	biolink:OntologyClass	hp	UMLS:C4022944	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.	http://purl.obolibrary.org/obo/HP_0012347		
OBO:HP_0012348	Decreased galactosylation of N-linked protein glycosylation	biolink:OntologyClass	hp	UMLS:C4022943	A reduction in the amount of galactose residues of N-glycans.	http://purl.obolibrary.org/obo/HP_0012348		
OBO:HP_0012349	Abnormal sialylation of N-linked protein glycosylation	biolink:OntologyClass	hp	UMLS:C4022942	An anomaly of the addition of sialic acids to N-linked glycans.	http://purl.obolibrary.org/obo/HP_0012349		
OBO:HP_0012350	Decreased sialylation of N-linked protein glycosylation	biolink:OntologyClass	hp	UMLS:C4022941	Decreased addition of sialic acids to N-linked glycans.	http://purl.obolibrary.org/obo/HP_0012350		
OBO:HP_0012351	Increased sialylation of N-linked protein glycosylation	biolink:OntologyClass	hp	UMLS:C4022940	Increased addition of sialic acids to N-linked glycans.	http://purl.obolibrary.org/obo/HP_0012351		
OBO:HP_0012352	Abnormal fucosylation of protein N-linked glycosylation	biolink:OntologyClass	hp	UMLS:C4022939	An anomaly of the addition of fucose sugar units to N-linked glycans.	http://purl.obolibrary.org/obo/HP_0012352		
OBO:HP_0012353	Decreased fucosylation of N-linked protein glycosylation	biolink:OntologyClass	hp	UMLS:C4022938	Decreased addition of fucose sugar units to N-linked glycans.	http://purl.obolibrary.org/obo/HP_0012353		
OBO:HP_0012354	Increased fucosylation of N-linked protein glycosylation	biolink:OntologyClass	hp	UMLS:C4022937	Increased addition of fucose sugar units to N-linked glycans.	http://purl.obolibrary.org/obo/HP_0012354		
OBO:HP_0012355	Abnormal mannosylation of N-linked protein glycosylation	biolink:OntologyClass	hp	UMLS:C4022936	An anomaly of the addition of mannose to N-linked glycans.	http://purl.obolibrary.org/obo/HP_0012355		
OBO:HP_0012356	Decreased mannosylation of N-linked protein glycosylation	biolink:OntologyClass	hp	UMLS:C4022935	Reduced addition of mannose to N-linked glycans.	http://purl.obolibrary.org/obo/HP_0012356		
OBO:HP_0012357	Increased mannosylation of N-linked protein glycosylation	biolink:OntologyClass	hp	UMLS:C4022934	Increased addition of mannose to N-linked glycans.	http://purl.obolibrary.org/obo/HP_0012357		
OBO:HP_0012358	Abnormal protein O-linked glycosylation	biolink:OntologyClass	hp	UMLS:C4022933	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.	http://purl.obolibrary.org/obo/HP_0012358		
OBO:HP_0012359	Abnormal fucosylation of O-linked protein glycosylation	biolink:OntologyClass	hp	UMLS:C4022932	An anomaly of the addition of fucose sugar units to O-linked glycans.	http://purl.obolibrary.org/obo/HP_0012359		
OBO:HP_0012360	Decreased fucosylation of O-linked protein glycosylation	biolink:OntologyClass	hp	UMLS:C4022931	A reduction of the addition of fucose sugar units to O-linked glycans.	http://purl.obolibrary.org/obo/HP_0012360		
OBO:HP_0012361	Increased fucosylation of O-linked protein glycosylation	biolink:OntologyClass	hp	UMLS:C4022930	Increased addition of fucose sugar units to O-linked glycans.	http://purl.obolibrary.org/obo/HP_0012361		
OBO:HP_0012362	Abnormal sialylation of O-linked protein glycosylation	biolink:OntologyClass	hp	UMLS:C4022929	An anomaly of the addition of sialic acids to O-linked glycans.	http://purl.obolibrary.org/obo/HP_0012362		
OBO:HP_0012363	Decreased sialylation of O-linked protein glycosylation	biolink:OntologyClass	hp	UMLS:C4022928	An reduced addition of sialic acids to O-linked glycans.	http://purl.obolibrary.org/obo/HP_0012363		
OBO:HP_0012364	Decreased urinary potassium	biolink:OntologyClass	hp	SNOMEDCT_US:54781007|UMLS:C0268024	A decreased concentration of potassium(1+) in the urine.	http://purl.obolibrary.org/obo/HP_0012364		Decreased urinary K|Hypokaluria|Low urine potassium levels
OBO:HP_0012365	Hypophosphaturia	biolink:OntologyClass	hp	SNOMEDCT_US:91632005|UMLS:C0268077	An abnormally decreased phosphate concentration in the urine.	http://purl.obolibrary.org/obo/HP_0012365		Low urine phosphate levels
OBO:HP_0012366	Basilar invagination	biolink:OntologyClass	hp	UMLS:C3887851	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).	http://purl.obolibrary.org/obo/HP_0012366		
OBO:HP_0012367	Extra fontanelles	biolink:OntologyClass	hp	UMLS:C4022927	Bony defects situated along the cranial suture lines or at the junction of the bone plates of the skull.	http://purl.obolibrary.org/obo/HP_0012367	hposlim_core	
OBO:HP_0012368	Flat face	biolink:OntologyClass	hp	UMLS:C1853241	Absence of concavity or convexity of the face when viewed in profile.	http://purl.obolibrary.org/obo/HP_0012368	hposlim_core	Flat face|Flat facial shape|Flat facial profile|Flat facies
OBO:HP_0012369	Abnormality of malar bones	biolink:OntologyClass	hp	UMLS:C4022926	An abnormality of the malar surface of the zygomatic bone and including the frontal process of maxilla.	http://purl.obolibrary.org/obo/HP_0012369		Malar anomaly|Anomaly of the malar bones|Deformity of the malar bones|Malformation of the malar bones
OBO:HP_0012370	Prominence of the zygomatic bone	biolink:OntologyClass	hp	SNOMEDCT_US:427888001|UMLS:C0375511|UMLS:C1997760|UMLS:C4082245	Large or prominent malar surface of the zygomatic bone of the skull, which is convex and forms the prominence of the 'cheek bones'.	http://purl.obolibrary.org/obo/HP_0012370	hposlim_core	Prominence of cheekbone|Pronounced cheekbone|Cheekbone excess|Zygomatic bone excess|Cheekbone prominence|Malar hypertrophy|Hyperplasia of cheekbone|Hyperplasia of zygomatic bone|Zygomatic hypertrophy
OBO:HP_0012371	Hyperplasia of midface	biolink:OntologyClass	hp	UMLS:C0240309	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	http://purl.obolibrary.org/obo/HP_0012371	hposlim_core	Big midface|Large midface|Midfacial excess|Midfacial prominence|Overgrowth of the midface|Midface hyperplasia|Hypertrophy of midface
OBO:HP_0012372	Abnormal eye morphology	biolink:OntologyClass	hp	Fyler:4863|UMLS:C4022925	A structural anomaly of the globe of the eye, or bulbus oculi.	http://purl.obolibrary.org/obo/HP_0012372		Abnormal eye structure|Abnormally shaped eye|Abnormality of the globe
OBO:HP_0012373	Abnormal eye physiology	biolink:OntologyClass	hp	UMLS:C4022924	A functional anomaly of the eye.	http://purl.obolibrary.org/obo/HP_0012373		Abnormal eye physiology
OBO:HP_0012374	obsolete Abnormal globe morphology	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0012374		
OBO:HP_0012375	Chemosis	biolink:OntologyClass	hp	SNOMEDCT_US:8148005|UMLS:C0271298	Edema (swelling) of the bulbar conjunctiva.	http://purl.obolibrary.org/obo/HP_0012375		
OBO:HP_0012376	Microphakia	biolink:OntologyClass	hp	SNOMEDCT_US:35272001|UMLS:C0266541	Abnormal smallness of the lens.	http://purl.obolibrary.org/obo/HP_0012376	hposlim_core	Small lens
OBO:HP_0012377	Hemianopia	biolink:OntologyClass	hp	MSH:D006423|SNOMEDCT_US:77674003|UMLS:C0018979	Partial or complete loss of vision in one half of the visual field of one or both eyes.	http://purl.obolibrary.org/obo/HP_0012377		Hemianopsia
OBO:HP_0012378	Fatigue	biolink:OntologyClass	hp	MSH:D005221|SNOMEDCT_US:248274002|SNOMEDCT_US:84229001|UMLS:C0015672	A subjective feeling of tiredness characterized by a lack of energy and motivation.	http://purl.obolibrary.org/obo/HP_0012378		Fatigue|Tired|Tiredness|Malaise
OBO:HP_0012379	Abnormal enzyme/coenzyme activity	biolink:OntologyClass	hp	UMLS:C4022922	An altered ability of any enzyme or their cofactors to act as catalysts. This term includes changes due to altered levels of an enzyme.	http://purl.obolibrary.org/obo/HP_0012379		
OBO:HP_0012380	Reduced carnitine O-palmitoyltransferase level	biolink:OntologyClass	hp	UMLS:C4022921	Reduced carnitine O-palmitoyltransferase level, leading to a reduced activity of the reaction: palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine.	http://purl.obolibrary.org/obo/HP_0012380		
OBO:HP_0012381	Delayed self-feeding during toddler years	biolink:OntologyClass	hp	UMLS:C4022920	A delay in the development of skills required to feed oneself in the toddler period (between one and three years of age).	http://purl.obolibrary.org/obo/HP_0012381		
OBO:HP_0012382	Left-to-right shunt	biolink:OntologyClass	hp	SNOMEDCT_US:66130006|UMLS:C0428870	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.	http://purl.obolibrary.org/obo/HP_0012382		
OBO:HP_0012383	Bidirectional shunt	biolink:OntologyClass	hp	SNOMEDCT_US:13352000|UMLS:C0428872	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.	http://purl.obolibrary.org/obo/HP_0012383		
OBO:HP_0012384	Rhinitis	biolink:OntologyClass	hp	MSH:D012220|SNOMEDCT_US:70076002|UMLS:C0035455|UMLS:C2718128	Inflammation of the nasal mucosa with nasal congestion.	http://purl.obolibrary.org/obo/HP_0012384	hposlim_core	Nasal inflammation
OBO:HP_0012385	Camptodactyly	biolink:OntologyClass	hp	SNOMEDCT_US:29271008|UMLS:C0685409	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.	http://purl.obolibrary.org/obo/HP_0012385	hposlim_core	Permanent flexion of the finger or toe
OBO:HP_0012386	Absent hallux	biolink:OntologyClass	hp	UMLS:C1841686	Aplasia of the hallux, that is, a development defect such that the big toe does not develop.	http://purl.obolibrary.org/obo/HP_0012386		Absent big toe|Missing big toe|Agenesis of the halluces|Aplasia of the hallux
OBO:HP_0012387	Bronchitis	biolink:OntologyClass	hp	MSH:D001991|SNOMEDCT_US:32398004|UMLS:C0006277	Inflammation of the large airways in the lung including any part of the bronchi from the primary bronchi to the tertiary bronchi.	http://purl.obolibrary.org/obo/HP_0012387		
OBO:HP_0012388	Acute bronchitis	biolink:OntologyClass	hp	SNOMEDCT_US:10509002|SNOMEDCT_US:35301006|UMLS:C0149514	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.	http://purl.obolibrary.org/obo/HP_0012388		
OBO:HP_0012389	Appendicular hypotonia	biolink:OntologyClass	hp	UMLS:C4022919	Muscular hypotonia of one or more limbs.	http://purl.obolibrary.org/obo/HP_0012389		
OBO:HP_0012390	Anal fissure	biolink:OntologyClass	hp	MSH:D005401|SNOMEDCT_US:20928004|SNOMEDCT_US:30037006|UMLS:C0016167	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.	http://purl.obolibrary.org/obo/HP_0012390		Anal erosion
OBO:HP_0012391	Hyporeflexia of upper limbs	biolink:OntologyClass	hp	UMLS:C1836835	Reduced intensity of muscle tendon reflexes in the upper limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping.	http://purl.obolibrary.org/obo/HP_0012391		
OBO:HP_0012392	Jaw hyporeflexia	biolink:OntologyClass	hp	UMLS:C4022918	Reduced intensity of muscle tendon reflexes in jaw.	http://purl.obolibrary.org/obo/HP_0012392		Mandibular hyporeflexia
OBO:HP_0012393	Allergy	biolink:OntologyClass	hp	MSH:D006967|SNOMEDCT_US:419076005|UMLS:C1527304	An allergy is an immune response or reaction to substances that are usually not harmful.	http://purl.obolibrary.org/obo/HP_0012393		Allergy
OBO:HP_0012394	Iodine contrast allergy	biolink:OntologyClass	hp	UMLS:C4022917	Allergy to iodine contrast media used in radiological studies.	http://purl.obolibrary.org/obo/HP_0012394		
OBO:HP_0012395	Seasonal allergy	biolink:OntologyClass	hp	MSH:D006255|SNOMEDCT_US:21719001|SNOMEDCT_US:300910009|SNOMEDCT_US:367498001|SNOMEDCT_US:444316004|UMLS:C0018621	An allergy experienced at a particular time of year when trees or grasses pollinate and elicit an allergic reaction.	http://purl.obolibrary.org/obo/HP_0012395		Seasonal allergy
OBO:HP_0012396	Biliary dyskinesia	biolink:OntologyClass	hp	MSH:D001657|SNOMEDCT_US:197432008|UMLS:C0005416	A motility disorder characterized by biliary colic in the absence of gallstones with a reduced gallbladder ejection fraction.	http://purl.obolibrary.org/obo/HP_0012396		
OBO:HP_0012397	Aortic atherosclerotic lesion	biolink:OntologyClass	hp	SNOMEDCT_US:81817003|UMLS:C0155733	The presence of atheromas or atherosclerotic plaques in the aorta.	http://purl.obolibrary.org/obo/HP_0012397		Aortic atherosclerosis|Plaque build-up in aorta artery|Atherosclerosis of the aorta|Atherosclerotic changes of aorta
OBO:HP_0012398	Peripheral edema	biolink:OntologyClass	hp	SNOMEDCT_US:271809000|SNOMEDCT_US:82014009|UMLS:C0085649	An abnormal accumulation of interstitial fluid in the soft tissues of the limbs.	http://purl.obolibrary.org/obo/HP_0012398		Peripheral oedema
OBO:HP_0012399	Pressure ulcer	biolink:OntologyClass	hp	MSH:D003668|SNOMEDCT_US:399912005|SNOMEDCT_US:420226006|UMLS:C0011127	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.	http://purl.obolibrary.org/obo/HP_0012399		Bedsore|Pressure Sore|Pressure ulcer|Decubitus Ulcer
OBO:HP_0012400	Abnormal aldolase level	biolink:OntologyClass	hp	UMLS:C4022916	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.	http://purl.obolibrary.org/obo/HP_0012400		
OBO:HP_0012401	Abnormal urine alpha-ketoglutarate concentration	biolink:OntologyClass	hp	UMLS:C4020902	A deviation from normal of the concentration of 2-oxoglutaric acid in the urine.	http://purl.obolibrary.org/obo/HP_0012401		Abnormal urinary 2-oxoglutarate level|Abnormality of urine alpha ketoglutarate concentration
OBO:HP_0012402	Increased urine alpha-ketoglutarate concentration	biolink:OntologyClass	hp	UMLS:C4022915	A greater than normal concentration of 2-oxoglutaric acid in the urine.	http://purl.obolibrary.org/obo/HP_0012402		Increased urine alpha-ketoglutarate concentration|Elevated urinary 2-oxoglutarate
OBO:HP_0012403	Decreased urine alpha-ketoglutarate concentration	biolink:OntologyClass	hp	UMLS:C4022914	A lower than normal concentration of 2-oxoglutaric acid in the urine.	http://purl.obolibrary.org/obo/HP_0012403		Decreased urinary 2-oxoglutarate
OBO:HP_0012404	Abnormal urine citrate concentration	biolink:OntologyClass	hp	UMLS:C4022913	A deviation from normal of the concentration of citrate(3-) in the urine.	http://purl.obolibrary.org/obo/HP_0012404		Abnormal urine citrate concentration|Abnormal urine citric acid concentration
OBO:HP_0012405	Hypocitraturia	biolink:OntologyClass	hp	UMLS:C2673444	A lower than normal concentration of citrate(3-) in the urine.	http://purl.obolibrary.org/obo/HP_0012405		Decreased urine citrate concentration
OBO:HP_0012406	Hypercitraturia	biolink:OntologyClass	hp	UMLS:C4021090	A greater than normal concentration of citrate(3-) in the urine.	http://purl.obolibrary.org/obo/HP_0012406		Increased urine citrate concentration
OBO:HP_0012407	Scissor gait	biolink:OntologyClass	hp	MSH:D020233|SNOMEDCT_US:22090007|UMLS:C0231698	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.	http://purl.obolibrary.org/obo/HP_0012407		Scissor gait|Scissor walk|Scissors gait
OBO:HP_0012408	Medullary nephrocalcinosis	biolink:OntologyClass	hp	SNOMEDCT_US:236447005|UMLS:C0403477	The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney).	http://purl.obolibrary.org/obo/HP_0012408		
OBO:HP_0012409	Cortical nephrocalcinosis	biolink:OntologyClass	hp	SNOMEDCT_US:236446001|UMLS:C0403476	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).	http://purl.obolibrary.org/obo/HP_0012409		
OBO:HP_0012410	Pure red cell aplasia	biolink:OntologyClass	hp	MSH:D012010|SNOMEDCT_US:50715003|UMLS:C0034902	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.	http://purl.obolibrary.org/obo/HP_0012410		Red cell aplasia
OBO:HP_0012411	Premature pubarche	biolink:OntologyClass	hp	SNOMEDCT_US:237815000|UMLS:C0342541	The onset of growth of pubic hair at an earlier age than normal.	http://purl.obolibrary.org/obo/HP_0012411		Premature pubic hair growth
OBO:HP_0012412	Premature adrenarche	biolink:OntologyClass	hp	SNOMEDCT_US:103021001|UMLS:C0342546	Onset of adrenarche at an earlier age than usual.	http://purl.obolibrary.org/obo/HP_0012412		
OBO:HP_0012413	Notched primary central incisor	biolink:OntologyClass	hp	MSH:D013590|SNOMEDCT_US:410500004|SNOMEDCT_US:86443005|UMLS:C0020186|UMLS:C1444627|UMLS:C4022912	The presence of a V-shaped indentation (notch) in the primary central incisor.	http://purl.obolibrary.org/obo/HP_0012413		Notched front baby tooth|Notched front deciduous tooth|Notched front primary tooth|Syphilitic primary incisor|Hutchinson's incisor|Hutchinson's sign|Hutchinson's teeth|Hutchinson-boeck teeth
OBO:HP_0012414	Duodenal atrophy	biolink:OntologyClass	hp	UMLS:C4022911	Wasting or decrease in size of all or part of the duodenum.	http://purl.obolibrary.org/obo/HP_0012414		
OBO:HP_0012415	Abnormal blood gas level	biolink:OntologyClass	hp	SNOMEDCT_US:312391003|UMLS:C0476337	An abnormality of the partial pressure of oxygen or carbon dioxide in the arterial blood.	http://purl.obolibrary.org/obo/HP_0012415		Abnormal blood gas level
OBO:HP_0012416	Hypercapnia	biolink:OntologyClass	hp	MSH:D006935|SNOMEDCT_US:29596007|UMLS:C0020440	Abnormally elevated blood carbon dioxide (CO2) level.	http://purl.obolibrary.org/obo/HP_0012416		High blood carbon dioxide level|Hypercarbia
OBO:HP_0012417	Hypocapnia	biolink:OntologyClass	hp	MSH:D016857|SNOMEDCT_US:61031008|UMLS:C0085383	Abnormally reduced blood carbon dioxide (CO2) level.	http://purl.obolibrary.org/obo/HP_0012417		Reduced carbon dioxide in the blood|Hypocarbia
OBO:HP_0012418	Hypoxemia	biolink:OntologyClass	hp	MSH:D000860|SNOMEDCT_US:389087006|UMLS:C0700292	An abnormally low level of blood oxygen.	http://purl.obolibrary.org/obo/HP_0012418		Low blood oxygen level|Hypoxia
OBO:HP_0012419	Hyperoxemia	biolink:OntologyClass	hp	UMLS:C4022910	An abnormally high level of blood oxygen.	http://purl.obolibrary.org/obo/HP_0012419		
OBO:HP_0012420	Meconium stained amniotic fluid	biolink:OntologyClass	hp	SNOMEDCT_US:168092006|SNOMEDCT_US:249135009|UMLS:C0426209	Amniotic fluid containing the earliest stools of a mammalian infant.	http://purl.obolibrary.org/obo/HP_0012420		Meconium staining of amniotic fluid|Meconium-stained amniotic fluid
OBO:HP_0012421	Congenital absence of foreskin	biolink:OntologyClass	hp	SNOMEDCT_US:300519001|UMLS:C0577242	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.	http://purl.obolibrary.org/obo/HP_0012421		Absent foreskin|Aposthia
OBO:HP_0012422	Villous hypertrophy of choroid plexus	biolink:OntologyClass	hp	UMLS:C4020728|UMLS:C4021089	Overgrowth of the choroid plexus.	http://purl.obolibrary.org/obo/HP_0012422		Choroid plexus hypertrophy|Diffuse villous hypertrophy of choroid plexus
OBO:HP_0012423	Colonic inertia	biolink:OntologyClass	hp	MSH:D003248|UMLS:C1257861	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.	http://purl.obolibrary.org/obo/HP_0012423		
OBO:HP_0012424	Chorioretinitis	biolink:OntologyClass	hp	MSH:D002825|SNOMEDCT_US:46627006|UMLS:C0008513	An inflammation of the choroid and retina.	http://purl.obolibrary.org/obo/HP_0012424		
OBO:HP_0012425	Stercoral ulcer	biolink:OntologyClass	hp	SNOMEDCT_US:235766003|SNOMEDCT_US:38084005|SNOMEDCT_US:46040000|UMLS:C0267491|UMLS:C0333302	An ulcer of the colon due to pressure and irritation from retained fecal masses.	http://purl.obolibrary.org/obo/HP_0012425		Colon ulcer|Recto-sigmoid colon stercoral ulcer
OBO:HP_0012426	Optic disc drusen	biolink:OntologyClass	hp	MSH:D015594|SNOMEDCT_US:33629003|UMLS:C0029128	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.	http://purl.obolibrary.org/obo/HP_0012426		Optic nerve head drusen
OBO:HP_0012427	Excessive femoral anteversion	biolink:OntologyClass	hp	UMLS:C4022909	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.	http://purl.obolibrary.org/obo/HP_0012427		
OBO:HP_0012428	Prominent calcaneus	biolink:OntologyClass	hp	UMLS:C4021088	Protruding heel bone, or calcaneus.	http://purl.obolibrary.org/obo/HP_0012428		Prominent heel bone
OBO:HP_0012429	Aplasia/Hypoplasia of the cerebral white matter	biolink:OntologyClass	hp	UMLS:C4021844	Absence or underdevelopment of the cerebral white matter.	http://purl.obolibrary.org/obo/HP_0012429		Absent/small cerebral white matter|Absent/underdeveloped cerebral white matter
OBO:HP_0012430	Cerebral white matter hypoplasia	biolink:OntologyClass	hp	UMLS:C4020727|UMLS:C4022908	Underdevelopment of the cerebral white matter.	http://purl.obolibrary.org/obo/HP_0012430		Paucity of cerebral white matter
OBO:HP_0012431	Episodic fatigue	biolink:OntologyClass	hp	UMLS:C4022907	Intermittent and recurrent bouts of a subjective feeling of tiredness characterized by a lack of energy and motivation.	http://purl.obolibrary.org/obo/HP_0012431		
OBO:HP_0012432	Chronic fatigue	biolink:OntologyClass	hp	UMLS:C0518656	Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer.	http://purl.obolibrary.org/obo/HP_0012432		Chronic extreme exhaustion|Chronic fatigue
OBO:HP_0012433	Abnormal social behavior	biolink:OntologyClass	hp	UMLS:C4020726|UMLS:C4021087	An abnormality of actions or reactions of a person taking place during interactions with others.	http://purl.obolibrary.org/obo/HP_0012433		Abnormal social behavior|Abnormal social behaviour|Abnormal social interactions
OBO:HP_0012434	Delayed social development	biolink:OntologyClass	hp	UMLS:C4022906	A failure to meet one or more age-related milestones of social behavior.	http://purl.obolibrary.org/obo/HP_0012434		Delayed social development
OBO:HP_0012435	Ventral shortening of foreskin	biolink:OntologyClass	hp	UMLS:C4022905	Reduction in length of the ventral (lower) skin of prepuce of penis.	http://purl.obolibrary.org/obo/HP_0012435		
OBO:HP_0012436	Nonocclusive coronary artery atherosclerosis	biolink:OntologyClass	hp	UMLS:C4020724|UMLS:C4020725	Coronary disease that has not progressed to the point of causing significant occlusion (blockage) of the coronary arteries.	http://purl.obolibrary.org/obo/HP_0012436		Non-occlusive coronary artery disease|Non-occlusive coronary artery stenosis|Nonocclusive coronary artery disease|Nonocclusive coronary artery stenosis
OBO:HP_0012437	Abnormal gallbladder morphology	biolink:OntologyClass	hp	UMLS:C4022904	A structural anomaly of the gallbladder.	http://purl.obolibrary.org/obo/HP_0012437		Abnormal gallbladder structure|Abnormal shape of gallbladder
OBO:HP_0012438	Abnormal gallbladder physiology	biolink:OntologyClass	hp	UMLS:C4022903	A functional anomaly of the gallbladder.	http://purl.obolibrary.org/obo/HP_0012438		
OBO:HP_0012439	Abnormal biliary tract physiology	biolink:OntologyClass	hp	UMLS:C4022902	A functional abnormality of the biliary tree.	http://purl.obolibrary.org/obo/HP_0012439		
OBO:HP_0012440	Abnormal biliary tract morphology	biolink:OntologyClass	hp	UMLS:C4021086	A structural abnormality of the biliary tree.	http://purl.obolibrary.org/obo/HP_0012440		Anomaly of the biliary tract
OBO:HP_0012441	Sphincter of Oddi dyskinesia	biolink:OntologyClass	hp	MSH:D046628|SNOMEDCT_US:430887001|UMLS:C0878588|UMLS:C4048750	Reduced motility through the sphincter of Oddi, resulting in impedance of bile and pancreatic juice flow from the common bile duct into the duodenum.	http://purl.obolibrary.org/obo/HP_0012441		Sphincter of Oddi dysfunction
OBO:HP_0012442	Gallbladder dyskinesia	biolink:OntologyClass	hp	MSH:D001657|UMLS:C1449631	Reduced motility of the gallbladder with reduced emptying fraction.	http://purl.obolibrary.org/obo/HP_0012442		
OBO:HP_0012443	Abnormality of brain morphology	biolink:OntologyClass	hp	UMLS:C4021085	A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain.	http://purl.obolibrary.org/obo/HP_0012443		Abnormal shape of brain|Abnormality of the brain
OBO:HP_0012444	Brain atrophy	biolink:OntologyClass	hp	SNOMEDCT_US:278849000|SNOMEDCT_US:418143002|SNOMEDCT_US:52522001|UMLS:C0154671|UMLS:C0235946	Partial or complete wasting (loss) of brain tissue that was once present.	http://purl.obolibrary.org/obo/HP_0012444		Brain degeneration|Brain wasting
OBO:HP_0012446	Decreased CSF 5-methyltetrahydrofolate concentration	biolink:OntologyClass	hp	MSH:C567791|SNOMEDCT_US:711403001|UMLS:C2751584|UMLS:C4022901	A reduced concentration of 5-methyltetrahydrofolate(2-) in the cerebrospinal fluid (CSF). 5-methyltetrahydrofolate is the active folate metabolite.	http://purl.obolibrary.org/obo/HP_0012446		Reduced CSF 5-methyltetrahydrofolate concentration|Low CSF 5-methyltetrahydrofolate|Cerebral folate deficiency
OBO:HP_0012447	Abnormal myelination	biolink:OntologyClass	hp	UMLS:C1857704	Any anomaly in the process by which myelin sheaths are formed and maintained around neurons.	http://purl.obolibrary.org/obo/HP_0012447		
OBO:HP_0012448	Delayed myelination	biolink:OntologyClass	hp	SNOMEDCT_US:135810007|UMLS:C1277241	Delayed myelination.	http://purl.obolibrary.org/obo/HP_0012448		
OBO:HP_0012449	Sacroiliac joint synovitis	biolink:OntologyClass	hp	UMLS:C4022900	Inflammation of the synovial membrane of the sacroiliac joint.	http://purl.obolibrary.org/obo/HP_0012449		
OBO:HP_0012450	Chronic constipation	biolink:OntologyClass	hp	SNOMEDCT_US:236069009|UMLS:C0401149	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.	http://purl.obolibrary.org/obo/HP_0012450		Chronic constipation|Infrequent bowel movements
OBO:HP_0012451	Acute constipation	biolink:OntologyClass	hp	SNOMEDCT_US:197119006|UMLS:C0401148	Constipation of sudden onset and lasting for less than three months.	http://purl.obolibrary.org/obo/HP_0012451		
OBO:HP_0012452	Restless legs	biolink:OntologyClass	hp	MSH:D012148|SNOMEDCT_US:32914008|UMLS:C0035258	A feeling of uneasiness and restlessness in the legs after going to bed (sometimes causing insomnia).	http://purl.obolibrary.org/obo/HP_0012452		Willis-Ekbom disease|Restless legs syndrome|Wittmaack-Ekbom syndrome
OBO:HP_0012453	Bilateral wrist flexion contracture	biolink:OntologyClass	hp	UMLS:C4020723|UMLS:C4022899	A chronic loss of wrist joint motion on the right and left sides.	http://purl.obolibrary.org/obo/HP_0012453		Bilateral wrist contracture
OBO:HP_0012454	Unilateral wrist flexion contracture	biolink:OntologyClass	hp	UMLS:C4020722|UMLS:C4022898	A chronic loss of wrist joint motion on one side only.	http://purl.obolibrary.org/obo/HP_0012454		Unilateral wrist contracture
OBO:HP_0012455	obsolete Large artery calcification	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0012455		
OBO:HP_0012456	Medial arterial calcification	biolink:OntologyClass	hp	UMLS:C4022896	Calcification, that is, pathological deposition of calcium salts in the tunica media of arteries.	http://purl.obolibrary.org/obo/HP_0012456		
OBO:HP_0012457	Medial calcification of medium-sized arteries	biolink:OntologyClass	hp	UMLS:C4022895	Calcification, that is, pathological deposition of calcium salts in the tunica media of medium-sized (muscular or distributive) arteries.	http://purl.obolibrary.org/obo/HP_0012457		
OBO:HP_0012458	Medial calcification of small arteries	biolink:OntologyClass	hp	UMLS:C4022894	Calcification, that is, pathological deposition of calcium salts in the tunica media of small arteries.	http://purl.obolibrary.org/obo/HP_0012458		
OBO:HP_0012459	Hypnic headache	biolink:OntologyClass	hp	MSH:D051270|SNOMEDCT_US:122711000119109|UMLS:C0752150	A headache disorder that occurs exclusively at night, waking the affected individual from sleep.	http://purl.obolibrary.org/obo/HP_0012459		Alarm clock headache
OBO:HP_0012460	Dysmorphic inferior cerebellar vermis	biolink:OntologyClass	hp	UMLS:C4022893	A structural anomaly of the inferior portion of the vermis of cerebellum.	http://purl.obolibrary.org/obo/HP_0012460		
OBO:HP_0012461	Bacteriuria	biolink:OntologyClass	hp	MSH:D001437|SNOMEDCT_US:61373006|UMLS:C0004659	The presence of bacteria in the urine.	http://purl.obolibrary.org/obo/HP_0012461		Bacteria in urine|High urine bacteria
OBO:HP_0012462	Chin myoclonus	biolink:OntologyClass	hp	MSH:C537682|UMLS:C1860972	Involuntary and irregular twitches of the chin.	http://purl.obolibrary.org/obo/HP_0012462		Geniospasm|Chin spasms
OBO:HP_0012463	Elevated transferrin saturation	biolink:OntologyClass	hp	UMLS:C4022892	An above normal level of saturation of serum transferrin with iron.	http://purl.obolibrary.org/obo/HP_0012463		
OBO:HP_0012464	Decreased transferrin saturation	biolink:OntologyClass	hp	UMLS:C0919785	A below normal level of saturation of serum transferrin with iron.	http://purl.obolibrary.org/obo/HP_0012464		
OBO:HP_0012465	Elevated hepatic iron concentration	biolink:OntologyClass	hp	UMLS:C4022891	An increased level of iron in liver tissues.	http://purl.obolibrary.org/obo/HP_0012465		Increased iron concentration in liver|Increased liver iron level
OBO:HP_0012466	Chronic respiratory acidosis	biolink:OntologyClass	hp	SNOMEDCT_US:8764008|UMLS:C0268048	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).	http://purl.obolibrary.org/obo/HP_0012466		
OBO:HP_0012467	Acute respiratory acidosis	biolink:OntologyClass	hp	SNOMEDCT_US:70644008|UMLS:C0268047	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).	http://purl.obolibrary.org/obo/HP_0012467		
OBO:HP_0012468	Chronic acidosis	biolink:OntologyClass	hp	UMLS:C1735903	Longstanding abnormal acid accumulation or depletion of base.	http://purl.obolibrary.org/obo/HP_0012468		
OBO:HP_0012469	Infantile spasms	biolink:OntologyClass	hp	UMLS:C3887898	Infantile spasms represent a subset of "epileptic spasms". Infantile Spasms are epileptic spasms starting in the first year of life (infancy).	http://purl.obolibrary.org/obo/HP_0012469		
OBO:HP_0012470	Setting-sun eye phenomenon	biolink:OntologyClass	hp	SNOMEDCT_US:63342001|UMLS:C0423128|UMLS:C4020721	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.	http://purl.obolibrary.org/obo/HP_0012470		Setting-sun eye phenomenon|Sun setting eyes|Sunsetting eye|Eyes fixed downward
OBO:HP_0012471	Thick vermilion border	biolink:OntologyClass	hp	UMLS:C1836543	Increased width of the skin of vermilion border region of upper lip.	http://purl.obolibrary.org/obo/HP_0012471		Full lips|Increased volume of lip|Plump lips|Prominent lips|Thick lips|Increased volume of lip vermillion
OBO:HP_0012472	Eclabion	biolink:OntologyClass	hp	UMLS:C3550430	A turning outward of the lip or lips, that is, eversion of the lips.	http://purl.obolibrary.org/obo/HP_0012472		Outward turned lips|Eclabium|Everted lips
OBO:HP_0012473	Tongue atrophy	biolink:OntologyClass	hp	SNOMEDCT_US:249382006|SNOMEDCT_US:50805004|UMLS:C0241423|UMLS:C0426494	Wasting of the tongue.	http://purl.obolibrary.org/obo/HP_0012473		Wasting of the tongue|Atrophy of the tongue|Lingual atrophy|Lingual wasting
OBO:HP_0012474	Carotid artery occlusion	biolink:OntologyClass	hp	SNOMEDCT_US:266254007|SNOMEDCT_US:69798007|UMLS:C0265101	Complete obstruction of a carotid artery.	http://purl.obolibrary.org/obo/HP_0012474		Obstructed carotid artery
OBO:HP_0012475	Decreased circulating level of specific antibody	biolink:OntologyClass	hp	SNOMEDCT_US:234556002|UMLS:C0398711	The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against a specific antigen or microorganism.	http://purl.obolibrary.org/obo/HP_0012475		Abnormal specific antibody response|Decreased specific antibody in blood|Specific antibody deficiency
OBO:HP_0012476	Decreased specific pneumococcal antibody level	biolink:OntologyClass	hp	UMLS:C4022890	The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against pneumococci.	http://purl.obolibrary.org/obo/HP_0012476		Low pneumococcal antibody titer|Specific pneumococcal antibody deficiency
OBO:HP_0012477	Vocal tremor	biolink:OntologyClass	hp	UMLS:C4022889	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.	http://purl.obolibrary.org/obo/HP_0012477		Shakey voice|Vocal tremor
OBO:HP_0012478	Temporomandibular joint ankylosis	biolink:OntologyClass	hp	MSH:C536957|SNOMEDCT_US:298231004|SNOMEDCT_US:50603008|SNOMEDCT_US:91866004|UMLS:C0575010|UMLS:C0685924|UMLS:C2931375	Bony fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening.	http://purl.obolibrary.org/obo/HP_0012478		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
OBO:HP_0012479	Temporomandibular joint crepitus	biolink:OntologyClass	hp	SNOMEDCT_US:298377005|UMLS:C0575154|UMLS:C4280313|UMLS:C4280314|UMLS:C4280315	Noises from the temporomandibular joint during mandibular movement (e.g., chewing). Temporomandibular joint crepitus is often described as a clicking, popping, grating sound.	http://purl.obolibrary.org/obo/HP_0012479		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
OBO:HP_0012480	Abnormal cerebral vein morphology	biolink:OntologyClass	hp	UMLS:C4022888	An anomaly of cerebral veins.	http://purl.obolibrary.org/obo/HP_0012480		Abnormality of cerebral veins
OBO:HP_0012481	Cerebral venous angioma	biolink:OntologyClass	hp	MSH:D020787|UMLS:C1956261	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.	http://purl.obolibrary.org/obo/HP_0012481		Developmental Venous Anomaly
OBO:HP_0012482	Frontal venous angioma	biolink:OntologyClass	hp	UMLS:C4022887	A venous angioma of the frontal lobe of the brain.	http://purl.obolibrary.org/obo/HP_0012482		
OBO:HP_0012483	Abnormal alpha granules	biolink:OntologyClass	hp	UMLS:C4022886	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.	http://purl.obolibrary.org/obo/HP_0012483		
OBO:HP_0012484	Abnormal dense granules	biolink:OntologyClass	hp	UMLS:C4022885	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.	http://purl.obolibrary.org/obo/HP_0012484		
OBO:HP_0012485	Abnormal surface-connected open canalicular system	biolink:OntologyClass	hp	UMLS:C4021840	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.	http://purl.obolibrary.org/obo/HP_0012485		
OBO:HP_0012486	Myelitis	biolink:OntologyClass	hp	MSH:D009187|SNOMEDCT_US:41370002|UMLS:C0026975	Inflammation of the spinal cord.	http://purl.obolibrary.org/obo/HP_0012486		Inflammation of spinal cord
OBO:HP_0012487	Cerebellopontine angle arachnoid cyst	biolink:OntologyClass	hp	UMLS:C4022884	An arachnoid cyst located at the margin of the cerebellum and pons.	http://purl.obolibrary.org/obo/HP_0012487		
OBO:HP_0012488	Intraventricular arachnoid cyst	biolink:OntologyClass	hp	UMLS:C4022883	An arachnoid cyst located within the ventricular system.	http://purl.obolibrary.org/obo/HP_0012488		
OBO:HP_0012489	Suprasellar arachnoid cyst	biolink:OntologyClass	hp	UMLS:C4022882	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.	http://purl.obolibrary.org/obo/HP_0012489		
OBO:HP_0012490	Panniculitis	biolink:OntologyClass	hp	MSH:D015434|SNOMEDCT_US:22125009|UMLS:C0030326	Inflammation of adipose tissue.	http://purl.obolibrary.org/obo/HP_0012490		Inflammation of fat tissue|Inflammation of adipose tissue
OBO:HP_0012491	Abnormal dense tubular system	biolink:OntologyClass	hp	UMLS:C4022881	An anomaly of the intracellular membrane complexes known as the dense tubular system.	http://purl.obolibrary.org/obo/HP_0012491		
OBO:HP_0012492	Cerebral artery stenosis	biolink:OntologyClass	hp	UMLS:C1504438	Narrowing or constriction of the inner surface (lumen) of a cerebral artery.	http://purl.obolibrary.org/obo/HP_0012492		Narrowing of a cerebral artery
OBO:HP_0012493	Middle cerebral artery stenosis	biolink:OntologyClass	hp	SNOMEDCT_US:21290001000004104|UMLS:C1504568	Narrowing or constriction of the inner surface (lumen) of the middle cerebral artery.	http://purl.obolibrary.org/obo/HP_0012493		
OBO:HP_0012494	Anterior cerebral artery stenosis	biolink:OntologyClass	hp	UMLS:C1504567	Narrowing or constriction of the inner surface (lumen) of the anterior cerebral artery.	http://purl.obolibrary.org/obo/HP_0012494		
OBO:HP_0012495	Posterior cerebral artery stenosis	biolink:OntologyClass	hp	UMLS:C1504569	Narrowing or constriction of the inner surface (lumen) of the posterior cerebral artery.	http://purl.obolibrary.org/obo/HP_0012495		
OBO:HP_0012496	Reduced maximal inspiratory pressure	biolink:OntologyClass	hp	UMLS:C4022880	A decrease in the maximum amount of negative pressure a person can generate during an inhalation.	http://purl.obolibrary.org/obo/HP_0012496		
OBO:HP_0012497	Reduced maximal expiratory pressure	biolink:OntologyClass	hp	UMLS:C4022879	A decrease in the maximum amount of pressure of expired air achieved by a person after a full inspiration.	http://purl.obolibrary.org/obo/HP_0012497		
OBO:HP_0012498	Nuchal cord	biolink:OntologyClass	hp	MSH:D053589|SNOMEDCT_US:302929008|UMLS:C0405124	A complication of pregnancy and delivery in which the umbilical cord wraps around the fetal neck once or multiple times.	http://purl.obolibrary.org/obo/HP_0012498		
OBO:HP_0012499	Descending aortic dissection	biolink:OntologyClass	hp	UMLS:C4022878	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.	http://purl.obolibrary.org/obo/HP_0012499		Type B aortic dissection
OBO:HP_0012500	Verrucous papule	biolink:OntologyClass	hp	UMLS:C4022877	A wartlike (with multiple small elevated projections) papule.	http://purl.obolibrary.org/obo/HP_0012500		Papillomatous papule
OBO:HP_0012501	Abnormality of the brainstem white matter	biolink:OntologyClass	hp	UMLS:C4022876	An anomaly of the white matter of brainstem.	http://purl.obolibrary.org/obo/HP_0012501		
OBO:HP_0012502	Abnormality of the internal capsule	biolink:OntologyClass	hp	UMLS:C4022875	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.	http://purl.obolibrary.org/obo/HP_0012502		
OBO:HP_0012503	Abnormality of the pituitary gland	biolink:OntologyClass	hp	MSH:D010900|SNOMEDCT_US:399244003|UMLS:C0032002	An anomaly of the pituitary gland.	http://purl.obolibrary.org/obo/HP_0012503		disorder of pituitary gland
OBO:HP_0012504	Abnormal size of pituitary gland	biolink:OntologyClass	hp	UMLS:C4022874	A deviation from the normal size of the pituitary gland.	http://purl.obolibrary.org/obo/HP_0012504		
OBO:HP_0012505	Enlarged pituitary gland	biolink:OntologyClass	hp	SNOMEDCT_US:237718009|UMLS:C0342422	An abnormally increased size of the pituitary gland.	http://purl.obolibrary.org/obo/HP_0012505		
OBO:HP_0012506	Small pituitary gland	biolink:OntologyClass	hp	UMLS:C4022873	An abnormally decreased size of the pituitary gland.	http://purl.obolibrary.org/obo/HP_0012506		
OBO:HP_0012507	Weakness of orbicularis oculi muscle	biolink:OntologyClass	hp	UMLS:C1839030	Reduced strength of the orbicularis oculi, the circumorbital muscle in the face that closes the eyelid.	http://purl.obolibrary.org/obo/HP_0012507		Weakness of orbicularis oculi muscles
OBO:HP_0012508	Metamorphopsia	biolink:OntologyClass	hp	MSH:D014786|SNOMEDCT_US:42134006|UMLS:C0271185	A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank.	http://purl.obolibrary.org/obo/HP_0012508		
OBO:HP_0012509	Reduced thyroxin-binding globulin	biolink:OntologyClass	hp	UMLS:C4022872	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.	http://purl.obolibrary.org/obo/HP_0012509		
OBO:HP_0012510	Extra-axial cerebrospinal fluid accumulation	biolink:OntologyClass	hp	UMLS:C4022871	An increased amount of cerebrospinal fluid (CSF) in the subarachnoid space.	http://purl.obolibrary.org/obo/HP_0012510		Extra-axial CSF accumulation
OBO:HP_0012511	Temporal optic disc pallor	biolink:OntologyClass	hp	SNOMEDCT_US:247220006|UMLS:C0344299	A pale yellow discoloration of the temporal (lateral) portion of the optic disc.	http://purl.obolibrary.org/obo/HP_0012511		
OBO:HP_0012512	Diffuse optic disc pallor	biolink:OntologyClass	hp	UMLS:C4022870	A pale yellow discoloration of the entire optic disc.	http://purl.obolibrary.org/obo/HP_0012512		
OBO:HP_0012513	Upper limb pain	biolink:OntologyClass	hp	SNOMEDCT_US:102556003|UMLS:C0239377	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the arm.	http://purl.obolibrary.org/obo/HP_0012513		Upper limb pain
OBO:HP_0012514	Lower limb pain	biolink:OntologyClass	hp	SNOMEDCT_US:10601006|UMLS:C0023222	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg.	http://purl.obolibrary.org/obo/HP_0012514		Leg pain|Lower limb pain
OBO:HP_0012515	Hip flexor weakness	biolink:OntologyClass	hp	UMLS:C3279725	Reduced ability to flex the femur, that is, to pull the knee upward.	http://purl.obolibrary.org/obo/HP_0012515		
OBO:HP_0012516	Tetralogy of Fallot with pulmonary atresia	biolink:OntologyClass	hp	SNOMEDCT_US:253513005|UMLS:C0344882	An extreme form of tetralogy of Fallot characterized by absence of flow from the right ventricle to the pulmonary arteries.	http://purl.obolibrary.org/obo/HP_0012516		
OBO:HP_0012517	Reduced catalase level	biolink:OntologyClass	hp	UMLS:C4022869	An abnormally decreased amount of catalase level.	http://purl.obolibrary.org/obo/HP_0012517		
OBO:HP_0012518	Abnormal circle of Willis morphology	biolink:OntologyClass	hp	UMLS:C4022868	An anomaly of the circle of Willis, also known as the cerebral arterial circle.	http://purl.obolibrary.org/obo/HP_0012518		Abnormality of the cerebral arterial circle
OBO:HP_0012519	Hypoplastic posterior communicating artery	biolink:OntologyClass	hp	UMLS:C4020720	Underdeveloped posterior communicating artery.	http://purl.obolibrary.org/obo/HP_0012519		Hypoplastic posterior communicating arteries
OBO:HP_0012520	Perivascular spaces	biolink:OntologyClass	hp	UMLS:C1853618|UMLS:C4020719	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.	http://purl.obolibrary.org/obo/HP_0012520		Dilatation of Virchow-Robin spaces|Dilated Virchow-Robin spaces|Dilated cerebral perivascular spaces
OBO:HP_0012521	Optic nerve aplasia	biolink:OntologyClass	hp	UMLS:C4021084	Congenital absence of the optic nerve.	http://purl.obolibrary.org/obo/HP_0012521		Absent optic nerve|Aplastic optic nerve
OBO:HP_0012522	Spider hemangioma	biolink:OntologyClass	hp	UMLS:C4022867	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.	http://purl.obolibrary.org/obo/HP_0012522		
OBO:HP_0012523	Oral aversion	biolink:OntologyClass	hp	UMLS:C3665983	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).	http://purl.obolibrary.org/obo/HP_0012523		
OBO:HP_0012524	Abnormal platelet shape	biolink:OntologyClass	hp	UMLS:C4022866	A deviation from the normal discoid platelet shape.	http://purl.obolibrary.org/obo/HP_0012524		
OBO:HP_0012525	Abnormal alpha granule distribution	biolink:OntologyClass	hp	UMLS:C4022865	An anomalous location and arrangement of platelet alpha granules.	http://purl.obolibrary.org/obo/HP_0012525		
OBO:HP_0012526	Absence of alpha granules	biolink:OntologyClass	hp	UMLS:C4022864	A lack of platelet alpha granules. This typically results in the grey appearance of platelets in giemsa stained blood smears.	http://purl.obolibrary.org/obo/HP_0012526		Grey platelets|Gray platelets
OBO:HP_0012527	Abnormal alpha granule content	biolink:OntologyClass	hp	UMLS:C4022863	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.	http://purl.obolibrary.org/obo/HP_0012527		
OBO:HP_0012528	Abnormal number of alpha granules	biolink:OntologyClass	hp	UMLS:C4022862	A deviation from the normal count of alpha granules per thrombocyte.	http://purl.obolibrary.org/obo/HP_0012528		
OBO:HP_0012529	Abnormal dense granule content	biolink:OntologyClass	hp	UMLS:C4021839	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.	http://purl.obolibrary.org/obo/HP_0012529		
OBO:HP_0012530	Abnormal number of dense granules	biolink:OntologyClass	hp	UMLS:C4022861	A deviation from the normal count of dense granules per thrombocyte.	http://purl.obolibrary.org/obo/HP_0012530		
OBO:HP_0012531	Pain	biolink:OntologyClass	hp	MSH:D010146|SNOMEDCT_US:22253000|UMLS:C0030193	An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.	http://purl.obolibrary.org/obo/HP_0012531		Pain
OBO:HP_0012532	Chronic pain	biolink:OntologyClass	hp	MSH:D059350|SNOMEDCT_US:82423001|UMLS:C0150055	Persistent pain, usually defined as pain that has lasted longer than 3 to 6 months.	http://purl.obolibrary.org/obo/HP_0012532		Chronic pain|Long-lasting pain
OBO:HP_0012533	Allodynia	biolink:OntologyClass	hp	MSH:D006930|SNOMEDCT_US:247404004|UMLS:C0458247	Pain due to a stimulus that does not normally provoke pain.	http://purl.obolibrary.org/obo/HP_0012533		
OBO:HP_0012534	Dysesthesia	biolink:OntologyClass	hp	MSH:D010292|SNOMEDCT_US:279079003|UMLS:C0392699	Abnormal sensations with no apparent physical cause that are painful or unpleasant.	http://purl.obolibrary.org/obo/HP_0012534		Dysaesthesia|Dysesthesias
OBO:HP_0012535	Abnormal synaptic transmission	biolink:OntologyClass	hp	UMLS:C4021083	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.	http://purl.obolibrary.org/obo/HP_0012535		Abnormality of neurotransmitter metabolism
OBO:HP_0012536	Maternal anticardiolipin antibody positive	biolink:OntologyClass	hp	UMLS:C4022860	The presence of circulating autoantibodies to anticardiolipin in the mother.	http://purl.obolibrary.org/obo/HP_0012536		
OBO:HP_0012537	Food intolerance	biolink:OntologyClass	hp	SNOMEDCT_US:235719002|UMLS:C0149696	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.	http://purl.obolibrary.org/obo/HP_0012537		Food intolerance|Non-allergic food hypersensitivity
OBO:HP_0012538	Gluten intolerance	biolink:OntologyClass	hp	MSH:D002446|SNOMEDCT_US:396331005|SNOMEDCT_US:441831003|UMLS:C0007570|UMLS:C0850024	A detrimental reaction to the presence of gluten in food, which may include abdominal pain, fatigue, headaches and paresthesia, or celiac disease.	http://purl.obolibrary.org/obo/HP_0012538		Gluten intolerance|Gluten sensitivity
OBO:HP_0012539	Non-Hodgkin lymphoma	biolink:OntologyClass	hp	MSH:D008228|SNOMEDCT_US:118601006|SNOMEDCT_US:128929007|SNOMEDCT_US:188675007|SNOMEDCT_US:1929004|UMLS:C0024305	A type of lymphoma characterized microscopically by the absence of multinucleated Reed-Sternberg cells.	http://purl.obolibrary.org/obo/HP_0012539		
OBO:HP_0012540	Axillary epidermoid cyst	biolink:OntologyClass	hp	UMLS:C4022859	An epidermoid cyst in the armpit.	http://purl.obolibrary.org/obo/HP_0012540		Armpit cyst
OBO:HP_0012541	Cephalohematoma	biolink:OntologyClass	hp	SNOMEDCT_US:206200000|SNOMEDCT_US:83095000|UMLS:C0007722	Hemorrhage between the skull and periosteum of a newborn resulting from rupture of blood vessels that cross the periosteum.	http://purl.obolibrary.org/obo/HP_0012541		Cephalohaematoma
OBO:HP_0012542	Onychauxis	biolink:OntologyClass	hp	SNOMEDCT_US:30654002|UMLS:C0263536	Thickened nails without deformity.	http://purl.obolibrary.org/obo/HP_0012542		
OBO:HP_0012543	Hemosiderinuria	biolink:OntologyClass	hp	UMLS:C2721579	The presence of hemosiderin in the urine.	http://purl.obolibrary.org/obo/HP_0012543		
OBO:HP_0012544	Elevated aldolase level	biolink:OntologyClass	hp	UMLS:C4022858	An increased concentration of fructose 1,6-bisphosphate aldolase in the serum.	http://purl.obolibrary.org/obo/HP_0012544		
OBO:HP_0012545	Reduced aldolase level	biolink:OntologyClass	hp	UMLS:C4022857	An decreased concentration of fructose 1,6-bisphosphate aldolase in the serum.	http://purl.obolibrary.org/obo/HP_0012545		
OBO:HP_0012546	Skewed maternal X inactivation	biolink:OntologyClass	hp	UMLS:C4022856	A deviation from equal (50%) inactivation of each parental X chromosome in maternal cells.	http://purl.obolibrary.org/obo/HP_0012546		
OBO:HP_0012547	Abnormal involuntary eye movements	biolink:OntologyClass	hp	UMLS:C4022855	Anomalous movements of the eyes that occur without the subject wanting them to happen.	http://purl.obolibrary.org/obo/HP_0012547		
OBO:HP_0012548	Fatty replacement of skeletal muscle	biolink:OntologyClass	hp	UMLS:C4021082	Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers	http://purl.obolibrary.org/obo/HP_0012548		Skeletal muscle fatty infiltration
OBO:HP_0012549	Conjunctival lipoma	biolink:OntologyClass	hp	NCIT:C3192|UMLS:C4022854	A lipoma (a benign tumor composed of adipose tissue) located in the conjunctiva.	http://purl.obolibrary.org/obo/HP_0012549		
OBO:HP_0012550	Colonic varices	biolink:OntologyClass	hp	UMLS:C4022853	The presence of varices (enlarged and convoluted blood vessels) in the colon.	http://purl.obolibrary.org/obo/HP_0012550		
OBO:HP_0012551	Absent neutrophil specific granules	biolink:OntologyClass	hp	UMLS:C4022852	Lack of specific granules in neutrophils.	http://purl.obolibrary.org/obo/HP_0012551		
OBO:HP_0012552	Increased neutrophil nuclear projections	biolink:OntologyClass	hp	UMLS:C4022851	Presence of an elevated number of projections from nuclei of neutrophils. These projections can have the shape of hooks, tags, or clubs.	http://purl.obolibrary.org/obo/HP_0012552		
OBO:HP_0012553	Hypoplastic thumbnail	biolink:OntologyClass	hp	UMLS:C4022850	A thumbnail that is diminished in length and width, i.e., underdeveloped thumb nail.	http://purl.obolibrary.org/obo/HP_0012553		Small thumbnail|Underdeveloped thumbnail
OBO:HP_0012554	Absent thumbnail	biolink:OntologyClass	hp	UMLS:C4022849	Absence of thumb nail.	http://purl.obolibrary.org/obo/HP_0012554		
OBO:HP_0012555	Absent nail of hallux	biolink:OntologyClass	hp	UMLS:C4021081	Absent nail of big toe.	http://purl.obolibrary.org/obo/HP_0012555		Absent big toe nail|Absent nail of big toe
OBO:HP_0012556	Hyperbeta-alaninemia	biolink:OntologyClass	hp	UMLS:C4021080	Increased concentration of beta-alanine in the blood.	http://purl.obolibrary.org/obo/HP_0012556		High blood beta-alanine levels|Hyperbeta-alaninemia|Hyperbetaalaninemia
OBO:HP_0012557	EEG with centrotemporal focal spike waves	biolink:OntologyClass	hp	UMLS:C4022848	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.	http://purl.obolibrary.org/obo/HP_0012557		
OBO:HP_0012558	Abnormal T3/T4 ratio	biolink:OntologyClass	hp	UMLS:C4022847	A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that deviates from normal.	http://purl.obolibrary.org/obo/HP_0012558		
OBO:HP_0012559	Increased T3/T4 ratio	biolink:OntologyClass	hp	UMLS:C4022846	A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is higher than normal.	http://purl.obolibrary.org/obo/HP_0012559		
OBO:HP_0012560	Decreased T3/T4 ratio	biolink:OntologyClass	hp	UMLS:C4022845	A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is lower than normal.	http://purl.obolibrary.org/obo/HP_0012560		
OBO:HP_0012561	Unicuspid aortic valve	biolink:OntologyClass	hp	SNOMEDCT_US:253610004|UMLS:C0345001	The presence of an aortic valve with one instead of the normal three cusps (flaps).	http://purl.obolibrary.org/obo/HP_0012561		
OBO:HP_0012562	Premature epimetaphyseal fusion in hand	biolink:OntologyClass	hp	UMLS:C4022844	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.	http://purl.obolibrary.org/obo/HP_0012562		
OBO:HP_0012563	Premature epimetaphyseal fusion in foot	biolink:OntologyClass	hp	UMLS:C4022843	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.	http://purl.obolibrary.org/obo/HP_0012563		
OBO:HP_0012564	Premature epimetaphyseal fusion in tibia	biolink:OntologyClass	hp	UMLS:C4022842	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.	http://purl.obolibrary.org/obo/HP_0012564		
OBO:HP_0012565	Premature epimetaphyseal fusion in fibula	biolink:OntologyClass	hp	UMLS:C4021838	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.	http://purl.obolibrary.org/obo/HP_0012565		
OBO:HP_0012566	Premature epimetaphyseal fusion in radius	biolink:OntologyClass	hp	UMLS:C4022841	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.	http://purl.obolibrary.org/obo/HP_0012566		
OBO:HP_0012567	Premature epimetaphyseal fusion in ulna	biolink:OntologyClass	hp	UMLS:C4022840	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.	http://purl.obolibrary.org/obo/HP_0012567		
OBO:HP_0012568	Lower eyelid edema	biolink:OntologyClass	hp	SNOMEDCT_US:700327003|UMLS:C2025810|UMLS:C3839997	Edema in the region of the Lower eyelid.	http://purl.obolibrary.org/obo/HP_0012568		Fullness of lower eyelid|Puffiness of lower eyelid|Swelling of lower eyelid|Lower eyelid oedema|Cellulitis of lower eyelid
OBO:HP_0012569	Delayed menarche	biolink:OntologyClass	hp	UMLS:C0949173	First period after the age of 15 years.	http://purl.obolibrary.org/obo/HP_0012569		Delayed start of first period
OBO:HP_0012570	Synovial sarcoma	biolink:OntologyClass	hp	MSH:D013584|SNOMEDCT_US:302851001|SNOMEDCT_US:63211008|UMLS:C0039101	A type of mesenchymal tissue cell tumor that exhibits epithelial differentiation, which most frequently arises in the extremities.	http://purl.obolibrary.org/obo/HP_0012570		Malignant synovioma
OBO:HP_0012571	Ureter fissus	biolink:OntologyClass	hp	ICD-10:Q62.5|UMLS:C4021079	A partial duplication of the ureter where the duplicated ureters fuse to a single ureter before their insertion into the bladder.	http://purl.obolibrary.org/obo/HP_0012571		Partially duplicated ureter
OBO:HP_0012572	Ureter duplex	biolink:OntologyClass	hp	ICD-10:Q62.5|SNOMEDCT_US:49496001|UMLS:C0221365	A complete duplication of the ureter, where the duplicated ureters have separate insertions into the bladder.	http://purl.obolibrary.org/obo/HP_0012572		
OBO:HP_0012573	Global proximal tubulopathy	biolink:OntologyClass	hp	UMLS:C4022839	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.	http://purl.obolibrary.org/obo/HP_0012573		
OBO:HP_0012574	Mesangial hypercellularity	biolink:OntologyClass	hp	SNOMEDCT_US:125510009|UMLS:C0545017	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.	http://purl.obolibrary.org/obo/HP_0012574		Mesangial proliferation
OBO:HP_0012575	Abnormal nephron morphology	biolink:OntologyClass	hp	UMLS:C4022838	A structural anomaly of the nephron.	http://purl.obolibrary.org/obo/HP_0012575		Abnormality of the nephron
OBO:HP_0012576	Glomerular C3 deposition	biolink:OntologyClass	hp	UMLS:C4022837	The presence of complement 3 deposits in the glomerulus.	http://purl.obolibrary.org/obo/HP_0012576		Renal C3 deposition|C3 nephropathy
OBO:HP_0012577	Thin glomerular basement membrane	biolink:OntologyClass	hp	UMLS:C3276821	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.	http://purl.obolibrary.org/obo/HP_0012577		
OBO:HP_0012578	Membranous nephropathy	biolink:OntologyClass	hp	MSH:D015433|SNOMEDCT_US:77182004|UMLS:C0017665	A type of glomerulonephropathy characterized by thickening of the basement membrane and deposition of immune complexes in the subepithelial space.	http://purl.obolibrary.org/obo/HP_0012578		Membranous glomerulonephritis
OBO:HP_0012579	Minimal change glomerulonephritis	biolink:OntologyClass	hp	MSH:D009402|SNOMEDCT_US:44785005|UMLS:C0027721	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.	http://purl.obolibrary.org/obo/HP_0012579		Minimal change disease|Minimal change nephropathy
OBO:HP_0012580	Calcium phosphate nephrolithiasis	biolink:OntologyClass	hp	UMLS:C3671880	The presence of calcium- and phosphate-containing calculi (stones) in the kidneys.	http://purl.obolibrary.org/obo/HP_0012580		Ca phosphate nephrolithiasis|Ca phosphate urolithiasis|Ca2+ phosphate nephrolitiasis|Ca2+ phosphate urolithiasis|Calcium phosphate urolithiasis
OBO:HP_0012581	Simple renal cyst	biolink:OntologyClass	hp	SNOMEDCT_US:77945009|UMLS:C0268800|UMLS:C4022836	An isolated cyst of the kidney.	http://purl.obolibrary.org/obo/HP_0012581		Simple kidney cyst|Solitary renal cyst
OBO:HP_0012582	Bilateral renal dysplasia	biolink:OntologyClass	hp	SNOMEDCT_US:204950001|UMLS:C0431698	A bilateral form of developmental dysplasia of the kidney.	http://purl.obolibrary.org/obo/HP_0012582		
OBO:HP_0012583	Unilateral renal hypoplasia	biolink:OntologyClass	hp	SNOMEDCT_US:204948009|UMLS:C0431691	One sided hypoplasia of the kidney.	http://purl.obolibrary.org/obo/HP_0012583		Small kidney on one side|Underdeveloped kidney on one side
OBO:HP_0012584	Bilateral renal hypoplasia	biolink:OntologyClass	hp	SNOMEDCT_US:268232000|UMLS:C0431692	Two sided hypoplasia of the kidney.	http://purl.obolibrary.org/obo/HP_0012584		
OBO:HP_0012585	Renal atrophy	biolink:OntologyClass	hp	SNOMEDCT_US:197659005|UMLS:C0341698	Atrophy of the kidney.	http://purl.obolibrary.org/obo/HP_0012585		Kidney degeneration
OBO:HP_0012586	Bilateral renal atrophy	biolink:OntologyClass	hp	UMLS:C4022835	A two-sided form of atrophy of the kidney.	http://purl.obolibrary.org/obo/HP_0012586		Bilateral kidney degeneration
OBO:HP_0012587	Macroscopic hematuria	biolink:OntologyClass	hp	SNOMEDCT_US:197941005|UMLS:C0473237	Hematuria that is visible upon inspection of the urine.	http://purl.obolibrary.org/obo/HP_0012587		Bloody urine|Gross hematuria
OBO:HP_0012588	Steroid-resistant nephrotic syndrome	biolink:OntologyClass	hp	SNOMEDCT_US:236381000|UMLS:C0403397	A form of nephrotic syndrome that does not respond to treatment with steroid medication.	http://purl.obolibrary.org/obo/HP_0012588		
OBO:HP_0012589	Multidrug-resistant nephrotic syndrome	biolink:OntologyClass	hp	UMLS:C4022834	A form of nephrotic syndrome that does not respond to any immunosuppresive treatment.	http://purl.obolibrary.org/obo/HP_0012589		
OBO:HP_0012590	Abnormal urine output	biolink:OntologyClass	hp	UMLS:C3693260	An abnormal amount of urine production.	http://purl.obolibrary.org/obo/HP_0012590		
OBO:HP_0012591	Abnormal urinary electrolyte concentration	biolink:OntologyClass	hp	UMLS:C4022833	An abnormality in the concentration of electrolytes in the urine.	http://purl.obolibrary.org/obo/HP_0012591		Urinary electrolyte imbalance
OBO:HP_0012592	Albuminuria	biolink:OntologyClass	hp	MSH:D000419|SNOMEDCT_US:274769005|UMLS:C0001925	Increased concentration of albumin in the urine.	http://purl.obolibrary.org/obo/HP_0012592		
OBO:HP_0012593	Nephrotic range proteinuria	biolink:OntologyClass	hp	SNOMEDCT_US:264867001|UMLS:C0445118	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.	http://purl.obolibrary.org/obo/HP_0012593		
OBO:HP_0012594	Moderate albuminuria	biolink:OntologyClass	hp	SNOMEDCT_US:312975006|UMLS:C0730345|UMLS:C1654921	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).	http://purl.obolibrary.org/obo/HP_0012594		High urine albumin levels|Microalbuminuria
OBO:HP_0012595	Mild proteinuria	biolink:OntologyClass	hp	UMLS:C4022832	Mildly increased levels of protein in the urine (150-500 mg per day in adults).	http://purl.obolibrary.org/obo/HP_0012595		
OBO:HP_0012596	Moderate proteinuria	biolink:OntologyClass	hp	UMLS:C4022831	Moderately increased levels of protein in the urine (500-1000 mg per day in adults).	http://purl.obolibrary.org/obo/HP_0012596		
OBO:HP_0012597	Heavy proteinuria	biolink:OntologyClass	hp	UMLS:C4022830	Severely increased levels of protein in the urine (1000-3000 mg per day in adults).	http://purl.obolibrary.org/obo/HP_0012597		Severly high blood protein levels
OBO:HP_0012598	Abnormal urine potassium concentration	biolink:OntologyClass	hp	UMLS:C4022829	An abnormal concentration of potassium(1+) in the urine.	http://purl.obolibrary.org/obo/HP_0012598		Abnormal urine K concentration
OBO:HP_0012599	Abnormal urine phosphate concentration	biolink:OntologyClass	hp	UMLS:C4022828	An abnormal phosphate concentration in the urine.	http://purl.obolibrary.org/obo/HP_0012599		
OBO:HP_0012600	Abnormal urine chloride concentration	biolink:OntologyClass	hp	UMLS:C4022827	An abnormal concentration of chloride in the urine.	http://purl.obolibrary.org/obo/HP_0012600		Abnormal urine Cl concentration|Abnormal urine Cl- concentration
OBO:HP_0012601	Hypochloriduria	biolink:OntologyClass	hp	UMLS:C4021078	An decreased concentration of chloride in the urine.	http://purl.obolibrary.org/obo/HP_0012601		Low urine chloride levels|Decreased urinary chloride
OBO:HP_0012602	Renal chloride wasting	biolink:OntologyClass	hp	UMLS:C4022826	High urine chloride in the presence of hypochloridemia.	http://purl.obolibrary.org/obo/HP_0012602		Renal Cl wasting|Renal Cl- wasting|Kidney chloride wasting
OBO:HP_0012603	Abnormal urine sodium concentration	biolink:OntologyClass	hp	UMLS:C4022825	An abnormal concentration of sodium in the urine.	http://purl.obolibrary.org/obo/HP_0012603		Abnormal urine Na concentration|Abnormal urine Na+ levels
OBO:HP_0012604	Hyponatriuria	biolink:OntologyClass	hp	UMLS:C4022824	An abnormally decreased sodium concentration in the urine.	http://purl.obolibrary.org/obo/HP_0012604		Low urine sodium levels
OBO:HP_0012605	Hypernatriuria	biolink:OntologyClass	hp	UMLS:C3671887	An increased concentration of sodium(1+) in the urine.	http://purl.obolibrary.org/obo/HP_0012605		Increased urinary sodium
OBO:HP_0012606	Renal sodium wasting	biolink:OntologyClass	hp	UMLS:C2748576	An abnormally increased sodium concentration in the urine in the presence of hyponatremia.	http://purl.obolibrary.org/obo/HP_0012606		Renal Na wasting|Renal Na+ wasting|Kidney sodium wasting
OBO:HP_0012607	Abnormal urine magnesium concentration	biolink:OntologyClass	hp	UMLS:C4022823	An abnormal concentration of magnesium the urine.	http://purl.obolibrary.org/obo/HP_0012607		Abnormal urine magnesium concentration
OBO:HP_0012608	Hypermagnesiuria	biolink:OntologyClass	hp	UMLS:C2673443	An increased concentration of magnesium the urine.	http://purl.obolibrary.org/obo/HP_0012608		
OBO:HP_0012609	Hypomagnesiuria	biolink:OntologyClass	hp	UMLS:C3203528	An decreased concentration of magnesium the urine.	http://purl.obolibrary.org/obo/HP_0012609		Decreased urine magnesium|Low urine magnesium levels
OBO:HP_0012610	Abnormality of urinary uric acid concentration	biolink:OntologyClass	hp	UMLS:C4022822	Abnormal concentration of urate in the urine.	http://purl.obolibrary.org/obo/HP_0012610		
OBO:HP_0012611	Increased urinary urate	biolink:OntologyClass	hp	UMLS:C0878672	Elevated concentration of urate in the urine.	http://purl.obolibrary.org/obo/HP_0012611		
OBO:HP_0012612	Abnormal urinary sulfate concentration	biolink:OntologyClass	hp	UMLS:C4022821	Abnormal concentration of sulfate in the urine.	http://purl.obolibrary.org/obo/HP_0012612		Abnormal urinary sulphate concentration
OBO:HP_0012613	Increased urinary sulfate	biolink:OntologyClass	hp	UMLS:C4022820	Elevated concentration of SO4(2-), i.e., sulfate, in the urine.	http://purl.obolibrary.org/obo/HP_0012613		Increased urinary sulphate
OBO:HP_0012614	Abnormal urine cytology	biolink:OntologyClass	hp	SNOMEDCT_US:310439007|UMLS:C0587955	An anomalous finding in the examination of the urine for cells.	http://purl.obolibrary.org/obo/HP_0012614		
OBO:HP_0012615	Cylindruria	biolink:OntologyClass	hp	SNOMEDCT_US:5277004|UMLS:C0151990	The presence of renal casts (cylindrical, cigar-shaped structures produced by the kidney in certain disease states) in the urine.	http://purl.obolibrary.org/obo/HP_0012615		Urinary casts
OBO:HP_0012616	Leukocyte cylindruria	biolink:OntologyClass	hp	UMLS:C4022819	Presence of leukocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine.	http://purl.obolibrary.org/obo/HP_0012616		White blood cell casts
OBO:HP_0012617	Erythrocyte cylindruria	biolink:OntologyClass	hp	UMLS:C4022818	Presence of erythrocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine.	http://purl.obolibrary.org/obo/HP_0012617		Red blood cell casts|Urinary erythrocyte cast
OBO:HP_0012618	Urachal cyst	biolink:OntologyClass	hp	MSH:D014496|SNOMEDCT_US:17234001|UMLS:C0041915	A cyst located along the allantois canal.	http://purl.obolibrary.org/obo/HP_0012618		
OBO:HP_0012619	Multiple bladder diverticula	biolink:OntologyClass	hp	UMLS:C4022817	Presence of a many diverticula (sac or pouch) in the wall of the urinary bladder.	http://purl.obolibrary.org/obo/HP_0012619		Multiple pouches in bladder wall
OBO:HP_0012620	Cloacal abnormality	biolink:OntologyClass	hp	UMLS:C4022816	A developmental anomaly associated with the failure of rectum, vagina, and bladder to separate.	http://purl.obolibrary.org/obo/HP_0012620		
OBO:HP_0012621	Persistent cloaca	biolink:OntologyClass	hp	SNOMEDCT_US:74829002|UMLS:C0266225	Developmental anomaly in which the vagina, bladder, and rectum fuse resulting in a common channel.	http://purl.obolibrary.org/obo/HP_0012621		Cloacogenic bladder
OBO:HP_0012622	Chronic kidney disease	biolink:OntologyClass	hp	MSH:D051436|SNOMEDCT_US:709044004|UMLS:C0748318|UMLS:C1561643	Functional anomaly of the kidney persisting for at least three months.	http://purl.obolibrary.org/obo/HP_0012622		Chronic kidney disease|Loss of renal function|Progressive renal failure|Progressive renal insufficiency|Renal failure, progressive|Renal insufficiency, progressive
OBO:HP_0012623	Stage 1 chronic kidney disease	biolink:OntologyClass	hp	SNOMEDCT_US:431855005|UMLS:C2316401	A type of chronic kidney disease with normal or increased glomerular filtration rate (GFR at least 90 mL/min/1.73 m2).	http://purl.obolibrary.org/obo/HP_0012623		
OBO:HP_0012624	Stage 2 chronic kidney disease	biolink:OntologyClass	hp	SNOMEDCT_US:431856006|UMLS:C2316786	A type of chronic kidney disease with mildly reduced glomerular filtration rate (GFR 60-89 mL/min/1.73 m2).	http://purl.obolibrary.org/obo/HP_0012624		
OBO:HP_0012625	Stage 3 chronic kidney disease	biolink:OntologyClass	hp	SNOMEDCT_US:433144002|UMLS:C2316787	A type of chronic kidney disease with moderately reduced glomerular filtration rate (GFR 30-59 mL/min/1.73 m2).	http://purl.obolibrary.org/obo/HP_0012625		
OBO:HP_0012626	Stage 4 chronic kidney disease	biolink:OntologyClass	hp	SNOMEDCT_US:431857002|UMLS:C2317473	A type of chronic kidney disease with severely reduced glomerular filtration rate (GFR 15-29 mL/min/1.73 m2).	http://purl.obolibrary.org/obo/HP_0012626		Stage 4 chronic kidney disease
OBO:HP_0012627	Pseudoexfoliation	biolink:OntologyClass	hp	UMLS:C4022815	Deposition of fibrillar material that can be found on all anterior segment structures bathed by aqueous humor.	http://purl.obolibrary.org/obo/HP_0012627		
OBO:HP_0012628	Abnormal suspensory ligament of lens morphology	biolink:OntologyClass	hp	UMLS:C4021077	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.	http://purl.obolibrary.org/obo/HP_0012628		Abnormality of the suspensory ligament of lens|Abnormality of zinn's membrane|Ciliary zonule abnormality|Zonule of zinn abnormality
OBO:HP_0012629	Phakodonesis	biolink:OntologyClass	hp	SNOMEDCT_US:116669003|UMLS:C2939415	Tremulousness (trembling) of the lens of the eye.	http://purl.obolibrary.org/obo/HP_0012629		Trembling eye lens|Phacodonesis
OBO:HP_0012630	Abnormal trabecular meshwork morphology	biolink:OntologyClass	hp	UMLS:C4022814	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.	http://purl.obolibrary.org/obo/HP_0012630		Abnormality of the trabecular meshwork
OBO:HP_0012631	Pigment deposition in the trabecular meshwork	biolink:OntologyClass	hp	UMLS:C3805899	Accumulation of abnormal amounts of pigment within the trabecular meshwork.	http://purl.obolibrary.org/obo/HP_0012631		
OBO:HP_0012632	Abnormal intraocular pressure	biolink:OntologyClass	hp	MP:0005257|SNOMEDCT_US:24075007|UMLS:C0520999	An anomaly in the amount of force per unit area exerted by the intraocular fluid within the eye.	http://purl.obolibrary.org/obo/HP_0012632		Abnormal eye pressure|Abnormal intraocular pressure
OBO:HP_0012633	Asymmetry of intraocular pressure	biolink:OntologyClass	hp	UMLS:C3805901	A difference in the amount of intraocular pressure in the right and left eye.	http://purl.obolibrary.org/obo/HP_0012633		
OBO:HP_0012634	Iris pigment dispersion	biolink:OntologyClass	hp	UMLS:C4022813	Shedding of the pigment granules that normally adhere to the back of the iris into the aqueous humor.	http://purl.obolibrary.org/obo/HP_0012634		
OBO:HP_0012635	Iris hypoperfusion	biolink:OntologyClass	hp	UMLS:C4022812	Reduction in the amount of blood flow to the iris.	http://purl.obolibrary.org/obo/HP_0012635		
OBO:HP_0012636	Retinal vein occlusion	biolink:OntologyClass	hp	MSH:D012170|SNOMEDCT_US:46085004|UMLS:C0035328	Blockage of the retinal vein.	http://purl.obolibrary.org/obo/HP_0012636		
OBO:HP_0012637	Renal calcium wasting	biolink:OntologyClass	hp	UMLS:C2673441	High urine calcium in the presence of hypocalcemia.	http://purl.obolibrary.org/obo/HP_0012637		Renal Ca wasting|Renal Ca2+ wasting|Kidney Ca wasting|Kidney Ca2+ wasting|Kidney calcium wasting
OBO:HP_0012638	Abnormal nervous system physiology	biolink:OntologyClass	hp	UMLS:C4022811	A functional anomaly of the nervous system.	http://purl.obolibrary.org/obo/HP_0012638		Abnormality of nervous system physiology
OBO:HP_0012639	Abnormal nervous system morphology	biolink:OntologyClass	hp	Fyler:4135|Fyler:4300|UMLS:C4022810	A structural anomaly of the nervous system.	http://purl.obolibrary.org/obo/HP_0012639		Abnormal shape of nervous system|Abnormal nervous system morphology|Abnormality of nervous system morphology
OBO:HP_0012640	Abnormality of intracranial pressure	biolink:OntologyClass	hp	UMLS:C4022809	A deviation from the norm of the intracranial pressure.	http://purl.obolibrary.org/obo/HP_0012640		
OBO:HP_0012641	Decreased intracranial pressure	biolink:OntologyClass	hp	SNOMEDCT_US:167714004|SNOMEDCT_US:277657001|UMLS:C0456892	A reduction of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0012641		Intracranial hypotension
OBO:HP_0012642	Cerebellar agenesis	biolink:OntologyClass	hp	UMLS:C4022808	Lack of development of the cerebellum.	http://purl.obolibrary.org/obo/HP_0012642		
OBO:HP_0012643	Foveal hypopigmentation	biolink:OntologyClass	hp	UMLS:C4022807	Decreased amount of pigmentation in the fovea centralis.	http://purl.obolibrary.org/obo/HP_0012643		
OBO:HP_0012644	Increased caudate lactate level	biolink:OntologyClass	hp	UMLS:C4022806	An elevated concentration of lactate in the caudate nucleus. This finding can be elicited by magnetic resonance spectroscopy imaging.	http://purl.obolibrary.org/obo/HP_0012644		
OBO:HP_0012645	Enlarged peripheral nerve	biolink:OntologyClass	hp	UMLS:C2675074	Increase in size of a peripheral nerve. This finding can be appreciated by palpation along the axis of the nerve.	http://purl.obolibrary.org/obo/HP_0012645		Enlarged peripheral nerves
OBO:HP_0012646	Retractile testis	biolink:OntologyClass	hp	SNOMEDCT_US:21779006|UMLS:C0520578	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.	http://purl.obolibrary.org/obo/HP_0012646		Retractile testicle
OBO:HP_0012647	Abnormal inflammatory response	biolink:OntologyClass	hp	UMLS:C4022805	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.	http://purl.obolibrary.org/obo/HP_0012647		Abnormal inflammatory response
OBO:HP_0012648	Decreased inflammatory response	biolink:OntologyClass	hp	UMLS:C4022804	An abnormal reduction in the inflammatory response to injury or infection.	http://purl.obolibrary.org/obo/HP_0012648		Decreased inflammatory response
OBO:HP_0012649	Increased inflammatory response	biolink:OntologyClass	hp	UMLS:C4022803	A abnormal increase in the inflammatory response to injury or infection.	http://purl.obolibrary.org/obo/HP_0012649		
OBO:HP_0012650	Perisylvian polymicrogyria	biolink:OntologyClass	hp	UMLS:C3279675	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.	http://purl.obolibrary.org/obo/HP_0012650		
OBO:HP_0012651	Abasia	biolink:OntologyClass	hp	UMLS:C0877217	A severe form of gait ataxia such that an affected person cannot walk at all.	http://purl.obolibrary.org/obo/HP_0012651		
OBO:HP_0012652	Exercise-induced asthma	biolink:OntologyClass	hp	MSH:D001250|SNOMEDCT_US:31387002|UMLS:C0004099	Asthma attacks following exercise.	http://purl.obolibrary.org/obo/HP_0012652		Exercise-induced asthma
OBO:HP_0012653	Status asthmaticus	biolink:OntologyClass	hp	MSH:D013224|SNOMEDCT_US:708090002|UMLS:C0038218	Severe asthma unresponsive to repeated courses of beta-agonist therapy such as inhaled albuterol, levalbuterol, or subcutaneous epinephrine.	http://purl.obolibrary.org/obo/HP_0012653		Acute severe asthma
OBO:HP_0012654	Abnormal CSF dopamine level	biolink:OntologyClass	hp	UMLS:C4022802	Abnormal concentration of dopamine in the cerebrospinal fluid (CSF).	http://purl.obolibrary.org/obo/HP_0012654		
OBO:HP_0012655	Elevated CSF dopamine level	biolink:OntologyClass	hp	UMLS:C4022801	Increased concentration of dopamine in the cerebrospinal fluid (CSF).	http://purl.obolibrary.org/obo/HP_0012655		
OBO:HP_0012656	Reduced CSF dopamine level	biolink:OntologyClass	hp	UMLS:C4022800	Decreased concentration of dopamine in the cerebrospinal fluid (CSF).	http://purl.obolibrary.org/obo/HP_0012656		
OBO:HP_0012657	Abnormal brain positron emission tomography	biolink:OntologyClass	hp	UMLS:C4022799	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.	http://purl.obolibrary.org/obo/HP_0012657		Abnormal brain PET scan
OBO:HP_0012658	Abnormal brain FDG positron emission tomography	biolink:OntologyClass	hp	UMLS:C4022798	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.	http://purl.obolibrary.org/obo/HP_0012658		Abnormal brain FDG PET scan
OBO:HP_0012659	Prefrontal hypometabolism in FDG PET	biolink:OntologyClass	hp	UMLS:C4022797	Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the prefrontal cortex as measured by positron emission tomography (PET) brain scan.	http://purl.obolibrary.org/obo/HP_0012659		
OBO:HP_0012660	Thalamic hypometabolism in FDG PET	biolink:OntologyClass	hp	UMLS:C4022796	Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the thalamus as measured by positron emission tomography (PET) brain scan.	http://purl.obolibrary.org/obo/HP_0012660		
OBO:HP_0012661	Hypothalamic hypometabolism in FDG PET	biolink:OntologyClass	hp	UMLS:C4022795	Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the hypothalamus as measured by positron emission tomography (PET) brain scan.	http://purl.obolibrary.org/obo/HP_0012661		
OBO:HP_0012662	Parietal hypometabolism in FDG PET	biolink:OntologyClass	hp	UMLS:C4022794	Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the parietal cortex as measured by positron emission tomography (PET) brain scan.	http://purl.obolibrary.org/obo/HP_0012662		
OBO:HP_0012663	Mildly reduced ejection fraction	biolink:OntologyClass	hp	UMLS:C4022793	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.	http://purl.obolibrary.org/obo/HP_0012663		
OBO:HP_0012664	Reduced ejection fraction	biolink:OntologyClass	hp	UMLS:C4022792	A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle.	http://purl.obolibrary.org/obo/HP_0012664		
OBO:HP_0012665	Moderately reduced ejection fraction	biolink:OntologyClass	hp	UMLS:C4022791	A medium reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle.	http://purl.obolibrary.org/obo/HP_0012665		
OBO:HP_0012666	Severely reduced ejection fraction	biolink:OntologyClass	hp	UMLS:C4022790	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.	http://purl.obolibrary.org/obo/HP_0012666		
OBO:HP_0012667	Regional left ventricular wall motion abnormality	biolink:OntologyClass	hp	UMLS:C4022789	An abnormal motion of a segment of the left ventricle during the cardiac cycle.	http://purl.obolibrary.org/obo/HP_0012667		
OBO:HP_0012668	Vasovagal syncope	biolink:OntologyClass	hp	MSH:D013575|MSH:D019462|SNOMEDCT_US:234167006|SNOMEDCT_US:398652001|SNOMEDCT_US:398665005|UMLS:C0042420|UMLS:C0340854		http://purl.obolibrary.org/obo/HP_0012668		Neurocardiogenic syncope|Reflex syncope|Situational syncope
OBO:HP_0012669	Carotid sinus syncope	biolink:OntologyClass	hp	MSH:D013575|SNOMEDCT_US:51723007|UMLS:C0221046	An exaggerated response to carotid sinus baroreceptor stimulation resulting in syncope from transient diminished cerebral perfusion.	http://purl.obolibrary.org/obo/HP_0012669		
OBO:HP_0012670	Orthostatic syncope	biolink:OntologyClass	hp	UMLS:C0749201	Syncope following a quick change in position from lying down to standing.	http://purl.obolibrary.org/obo/HP_0012670		
OBO:HP_0012671	Abulia	biolink:OntologyClass	hp	UMLS:C0919974	Poverty of behavior and speech output, lack of initiative, loss of emotional responses, psychomotor slowing, and prolonged speech latency.	http://purl.obolibrary.org/obo/HP_0012671		Aboulia
OBO:HP_0012672	Akinetic mutism	biolink:OntologyClass	hp	MSH:D000405|SNOMEDCT_US:53333005|UMLS:C0001889	Akinetic mutism is essentially characterized by a total absence of spontaneous behavior and speech occurring in the presence of preserved visual tracking.	http://purl.obolibrary.org/obo/HP_0012672		
OBO:HP_0012673	Aplasia of the upper vagina	biolink:OntologyClass	hp	UMLS:C4022788	A failure to develop of the upper vagina.	http://purl.obolibrary.org/obo/HP_0012673		Absent upper vagina
OBO:HP_0012674	Aplasia of the lower vagina	biolink:OntologyClass	hp	SNOMEDCT_US:253834007|UMLS:C0431646	A failure to develop of the lower part of the vagina.	http://purl.obolibrary.org/obo/HP_0012674		Absent lower vagina|Agenesis of the lower vagina
OBO:HP_0012675	Iron accumulation in brain	biolink:OntologyClass	hp	UMLS:C4021076	An abnormal build up of iron (Fe) in brain tissue.	http://purl.obolibrary.org/obo/HP_0012675		Iron accumulation in brain|Brain iron deposition
OBO:HP_0012676	Copper accumulation in brain	biolink:OntologyClass	hp	UMLS:C4022787	An anomalous build up of copper (Cu) in the brain.	http://purl.obolibrary.org/obo/HP_0012676		Copper accumulation in brain|Brain copper accumulation
OBO:HP_0012677	Iron accumulation in globus pallidus	biolink:OntologyClass	hp	UMLS:C4022786	An abnormal build up of iron (Fe) in the globus pallidus.	http://purl.obolibrary.org/obo/HP_0012677		
OBO:HP_0012678	Iron accumulation in substantia nigra	biolink:OntologyClass	hp	UMLS:C4022785	An anomalous build up of iron (Fe) in the substantia nigra.	http://purl.obolibrary.org/obo/HP_0012678		
OBO:HP_0012679	Widened interpedicular distance	biolink:OntologyClass	hp	UMLS:C4022784	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.	http://purl.obolibrary.org/obo/HP_0012679		
OBO:HP_0012680	Abnormality of the pineal gland	biolink:OntologyClass	hp	UMLS:C4022783	An anomaly of the pineal gland,a small endocrine gland in the brain that produces melatonin.	http://purl.obolibrary.org/obo/HP_0012680		
OBO:HP_0012681	Abnormality of pineal morphology	biolink:OntologyClass	hp	UMLS:C4022782	A structural abnormality of the pineal gland.	http://purl.obolibrary.org/obo/HP_0012681		
OBO:HP_0012682	Pineal gland calcification	biolink:OntologyClass	hp	UMLS:C1398718	Accumulation of calcium salts in the pineal gland.	http://purl.obolibrary.org/obo/HP_0012682		
OBO:HP_0012683	Pineal cyst	biolink:OntologyClass	hp	SNOMEDCT_US:413099000|UMLS:C1335411	A glial uniloculated or multiloculated fluid-filled sac that either reside within or completely replace the pineal gland.	http://purl.obolibrary.org/obo/HP_0012683		
OBO:HP_0012684	Abnormal pineal volume	biolink:OntologyClass	hp	UMLS:C4022781	An abnormal increase or decrease in the quantity of three-dimensional space taken up by the pineal gland.	http://purl.obolibrary.org/obo/HP_0012684		
OBO:HP_0012685	Decreased pineal volume	biolink:OntologyClass	hp	UMLS:C4022780	An abnormal reduction in the quantity of three-dimensional space taken up by the pineal gland.	http://purl.obolibrary.org/obo/HP_0012685		
OBO:HP_0012686	Increased pineal volume	biolink:OntologyClass	hp	UMLS:C4022779	An abnormal elevation in the quantity of three-dimensional space taken up by the pineal gland.	http://purl.obolibrary.org/obo/HP_0012686		
OBO:HP_0012687	Agenesis of pineal gland	biolink:OntologyClass	hp	UMLS:C3553078	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.	http://purl.obolibrary.org/obo/HP_0012687		
OBO:HP_0012688	Abnormality of pineal physiology	biolink:OntologyClass	hp	UMLS:C4022778	A functional abnormality of the pineal gland.	http://purl.obolibrary.org/obo/HP_0012688		
OBO:HP_0012689	Abnormal pineal melatonin secretion	biolink:OntologyClass	hp	UMLS:C4022777	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.	http://purl.obolibrary.org/obo/HP_0012689		
OBO:HP_0012690	T2 hypointense thalamus	biolink:OntologyClass	hp	UMLS:C4022776	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.	http://purl.obolibrary.org/obo/HP_0012690		
OBO:HP_0012691	Focal T2 hypointense thalamic lesion	biolink:OntologyClass	hp	UMLS:C4022775	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.	http://purl.obolibrary.org/obo/HP_0012691		
OBO:HP_0012692	Focal T2 hyperintense thalamic lesion	biolink:OntologyClass	hp	UMLS:C4022774	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.	http://purl.obolibrary.org/obo/HP_0012692		
OBO:HP_0012693	Abnormal thalamic size	biolink:OntologyClass	hp	UMLS:C4022773	Deviation from the normal range of size of the thalamus.	http://purl.obolibrary.org/obo/HP_0012693		
OBO:HP_0012694	Enlarged thalamic volume	biolink:OntologyClass	hp	UMLS:C4022772	An increase in the quantity of space occupied by the thalamus.	http://purl.obolibrary.org/obo/HP_0012694		
OBO:HP_0012695	Decreased thalamic volume	biolink:OntologyClass	hp	UMLS:C4022771	A reduction in the quantity of space occupied by the thalamus.	http://purl.obolibrary.org/obo/HP_0012695		
OBO:HP_0012696	Abnormal thalamic MRI signal intensity	biolink:OntologyClass	hp	UMLS:C4022770	A deviation from normal signal on magnetic resonance imaging (MRI) of the thalamus.	http://purl.obolibrary.org/obo/HP_0012696		
OBO:HP_0012697	Small basal ganglia	biolink:OntologyClass	hp	UMLS:C4022769	Decreased size of the basal ganglia.	http://purl.obolibrary.org/obo/HP_0012697		
OBO:HP_0012698	Cerebellar gliosis	biolink:OntologyClass	hp	UMLS:C4022768	Focal proliferation of glial cells in the cerebellum.	http://purl.obolibrary.org/obo/HP_0012698		
OBO:HP_0012699	Anomaly of lower limb diaphyses	biolink:OntologyClass	hp	UMLS:C4022767	A structural abnormality of a diaphysis of the leg.	http://purl.obolibrary.org/obo/HP_0012699		Anomaly of shaft of long bone of lower limb
OBO:HP_0012700	Abnormal large intestine physiology	biolink:OntologyClass	hp	UMLS:C4022766	A functional anomaly of the large intestine.	http://purl.obolibrary.org/obo/HP_0012700		
OBO:HP_0012701	Bowel urgency	biolink:OntologyClass	hp	SNOMEDCT_US:71820002|UMLS:C0426636	A sudden, irresistible need to have a bowel movement.	http://purl.obolibrary.org/obo/HP_0012701		Fecal urgency
OBO:HP_0012702	Tenesmus	biolink:OntologyClass	hp	SNOMEDCT_US:267053000|SNOMEDCT_US:6548007|UMLS:C0232726	A repeated, painful urge to defecate without excreting stool.	http://purl.obolibrary.org/obo/HP_0012702		
OBO:HP_0012703	Abnormal subarachnoid space morphology	biolink:OntologyClass	hp	UMLS:C4022765	Abnormality in the space in the meninges beneath the arachnoid membrane and above the pia mater that contains the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0012703		Abnormality of the subarachnoid space
OBO:HP_0012704	Widened subarachnoid space	biolink:OntologyClass	hp	UMLS:C1846151	An increase in size of the anatomic space between the arachnoid membrane and pia mater.	http://purl.obolibrary.org/obo/HP_0012704		Enlarged subarachnoid space|Widened subarachnoid spaces
OBO:HP_0012705	Abnormal metabolic brain imaging by MRS	biolink:OntologyClass	hp	UMLS:C4022764	An anomaly of metabolism in the brain identified by magnetic resonance spectroscopy (MRS).	http://purl.obolibrary.org/obo/HP_0012705		
OBO:HP_0012706	Elevated brain choline level by MRS	biolink:OntologyClass	hp	UMLS:C4022763	An increase in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS).	http://purl.obolibrary.org/obo/HP_0012706		
OBO:HP_0012707	Elevated brain lactate level by MRS	biolink:OntologyClass	hp	UMLS:C4022762	An increase in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS).	http://purl.obolibrary.org/obo/HP_0012707		
OBO:HP_0012708	Reduced brain N-acetyl aspartate level by MRS	biolink:OntologyClass	hp	UMLS:C4022761	A decrease in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS).	http://purl.obolibrary.org/obo/HP_0012708		Reduced brain N-acetyl aspartate level by magnetic resonance spectroscopy
OBO:HP_0012709	Abnormal brain choline/creatine ratio by MRS	biolink:OntologyClass	hp	UMLS:C4022760	A deviation from normal in the ratio of choline to creatine in the brain identified by magnetic resonance spectroscopy (MRS).	http://purl.obolibrary.org/obo/HP_0012709		
OBO:HP_0012710	Ingrown nail	biolink:OntologyClass	hp	MSH:D009263|SNOMEDCT_US:400097005|SNOMEDCT_US:400200009|UMLS:C0027343	Excessive growth of a nail laterally into the nail fold.	http://purl.obolibrary.org/obo/HP_0012710		Ingrown nail
OBO:HP_0012711	Delayed ossification of vertebral epiphysis	biolink:OntologyClass	hp	UMLS:C4022759|UMLS:C4280312	A delay in the process of formation and maturation of the epiphysis of one or more vertebrae.	http://purl.obolibrary.org/obo/HP_0012711		Delayed maturation of the end part of the vertebral bone
OBO:HP_0012712	Mild hearing impairment	biolink:OntologyClass	hp	UMLS:C4022758	The presence of a mild form of hearing impairment.	http://purl.obolibrary.org/obo/HP_0012712		Mild hearing impairment
OBO:HP_0012713	Moderate hearing impairment	biolink:OntologyClass	hp	UMLS:C4022757	The presence of a moderate form of hearing impairment.	http://purl.obolibrary.org/obo/HP_0012713		Moderate hearing impairment
OBO:HP_0012714	Severe hearing impairment	biolink:OntologyClass	hp	SNOMEDCT_US:3561000119106|UMLS:C3874334	A severe form of hearing impairment.	http://purl.obolibrary.org/obo/HP_0012714		Severe deafness|Severe hearing impairment|Severe hearing loss
OBO:HP_0012715	Profound hearing impairment	biolink:OntologyClass	hp	UMLS:C4022756	A profound (essentially complete) form of hearing impairment.	http://purl.obolibrary.org/obo/HP_0012715		Profound hearing impairment
OBO:HP_0012716	Moderate conductive hearing impairment	biolink:OntologyClass	hp	UMLS:C4021075	The presence of a moderate form of conductive hearing impairment.	http://purl.obolibrary.org/obo/HP_0012716		Conductive hearing loss, moderate
OBO:HP_0012717	Severe conductive hearing impairment	biolink:OntologyClass	hp	UMLS:C4021074	A severe form of conductive hearing impairment.	http://purl.obolibrary.org/obo/HP_0012717		Conductive hearing loss, severe
OBO:HP_0012718	Morphological abnormality of the gastrointestinal tract	biolink:OntologyClass	hp	UMLS:C4021073	Abnormal structure of the gastrointestinal tract.	http://purl.obolibrary.org/obo/HP_0012718		Morphological abnormality of the GI tract|Abnormal shape of the digestive system|Morphological anomaly of the digestive system
OBO:HP_0012719	Functional abnormality of the gastrointestinal tract	biolink:OntologyClass	hp	UMLS:C4022755	Abnormal functionality of the gastrointestinal tract.	http://purl.obolibrary.org/obo/HP_0012719		Functional abnormality of the GI tract|GI dysfunction
OBO:HP_0012720	Neoplasm of the nose	biolink:OntologyClass	hp	MSH:D009669|NCIT:C3262|SNOMEDCT_US:126669004|UMLS:C0028433|UMLS:C0751394	Tumor (An abnormal mass of tissue resulting from abnormally dividing cells) of the nasal cavity.	http://purl.obolibrary.org/obo/HP_0012720		Nasal tumor|Nose cancer|Tumor of the nose|Nasal neoplasm|Neoplasia of the nose
OBO:HP_0012721	Venous malformation	biolink:OntologyClass	hp	SNOMEDCT_US:297222002|UMLS:C2937220	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.	http://purl.obolibrary.org/obo/HP_0012721		Venous malformations
OBO:HP_0012722	Heart block	biolink:OntologyClass	hp	MSH:D006327|SNOMEDCT_US:233916004|UMLS:C0018794	Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway.	http://purl.obolibrary.org/obo/HP_0012722		
OBO:HP_0012723	Sinoatrial block	biolink:OntologyClass	hp	Fyler:7014|MSH:D012848|SNOMEDCT_US:65778007|UMLS:C0037188	Disturbance in the atrial activation that is caused by transient failure of impulse conduction from the sinoatrial node to the cardiac atria.	http://purl.obolibrary.org/obo/HP_0012723		
OBO:HP_0012724	Upper eyelid edema	biolink:OntologyClass	hp	SNOMEDCT_US:700339006|UMLS:C2025988|UMLS:C3839407	Edema in the region of the upper eyelid.	http://purl.obolibrary.org/obo/HP_0012724		Fullness of upper eyelid|Puffiness of upper eyelid|Swelling of upper eyelid|Upper eyelid oedema|Cellulitis of upper eyelid
OBO:HP_0012725	Cutaneous syndactyly	biolink:OntologyClass	hp	UMLS:C1861921	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.	http://purl.obolibrary.org/obo/HP_0012725		Cutaneous syndactyly of digits|Syndactyly, cutaneous
OBO:HP_0012726	Episodic hypokalemia	biolink:OntologyClass	hp	UMLS:C4022754	An abnormally decreased potassium concentration in the blood occurring periodically with a return to normal between the episodes.	http://purl.obolibrary.org/obo/HP_0012726		Recurrent low potassium
OBO:HP_0012727	Thoracic aortic aneurysm	biolink:OntologyClass	hp	MSH:D017545|SNOMEDCT_US:433068007|UMLS:C0162872	An abnormal localized widening (dilatation) of the thoracic aorta.	http://purl.obolibrary.org/obo/HP_0012727		Dilatation of the thoracic aorta
OBO:HP_0012728	Fusiform descending thoracic aortic aneurysm	biolink:OntologyClass	hp	UMLS:C4022753	A concentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves the full circumference of the vessel wall	http://purl.obolibrary.org/obo/HP_0012728		Dilatation of the fusiform descending thoracic aorta
OBO:HP_0012729	Saccular descending thoracic aortic aneurysm	biolink:OntologyClass	hp	UMLS:C4022752	An eccentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves only a portion of the circumference of the vessel wall	http://purl.obolibrary.org/obo/HP_0012729		Dilatation of the saccular descending thoracic aorta
OBO:HP_0012730	Aglossia	biolink:OntologyClass	hp	SNOMEDCT_US:74788000|UMLS:C0158663	Absence of the tongue owing to a developmental abnormality.	http://purl.obolibrary.org/obo/HP_0012730		Missing tongue|Failure of development of tongue|Absence of tongue
OBO:HP_0012731	Ectopic anterior pituitary gland	biolink:OntologyClass	hp	UMLS:C4022751	Abnormal anatomic location of the anterior pituitary gland.	http://purl.obolibrary.org/obo/HP_0012731		
OBO:HP_0012732	Anorectal anomaly	biolink:OntologyClass	hp	MSH:D000071056|SNOMEDCT_US:33225004|UMLS:C3495676	An abnormality of the anus or rectum.	http://purl.obolibrary.org/obo/HP_0012732		
OBO:HP_0012733	Macule	biolink:OntologyClass	hp	SNOMEDCT_US:112629002|UMLS:C0332573	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.	http://purl.obolibrary.org/obo/HP_0012733		Flat, discolored area of skin
OBO:HP_0012734	Ketotic hypoglycemia	biolink:OntologyClass	hp	SNOMEDCT_US:20825002|UMLS:C0271713	Low blood glucose is accompanied by elevated levels of ketone bodies in the body.	http://purl.obolibrary.org/obo/HP_0012734		Ketotic low blood sugar
OBO:HP_0012735	Cough	biolink:OntologyClass	hp	MSH:D003371|SNOMEDCT_US:263731006|SNOMEDCT_US:272039006|SNOMEDCT_US:49727002|UMLS:C0010200	A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.	http://purl.obolibrary.org/obo/HP_0012735		Cough|Coughing
OBO:HP_0012736	Profound global developmental delay	biolink:OntologyClass	hp	UMLS:C1855773|UMLS:C3553450	A profound delay in the achievement of motor or mental milestones in the domains of development of a child.	http://purl.obolibrary.org/obo/HP_0012736		Global developmental delay, profound|Psychomotor retardation, profound
OBO:HP_0012737	Small intestinal polyp	biolink:OntologyClass	hp	SNOMEDCT_US:399723004|UMLS:C1302645	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.	http://purl.obolibrary.org/obo/HP_0012737		
OBO:HP_0012738	Agenesis of canine	biolink:OntologyClass	hp	UMLS:C4021072|UMLS:C4280311	Agenesis of canine tooth.	http://purl.obolibrary.org/obo/HP_0012738		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
OBO:HP_0012739	Agenesis of the small intestine	biolink:OntologyClass	hp	UMLS:C4021071	Failure to develop of the small intestine.	http://purl.obolibrary.org/obo/HP_0012739		Undeveloped small intestine|Small bowel agenesis
OBO:HP_0012740	Papilloma	biolink:OntologyClass	hp	MSH:D010212|SNOMEDCT_US:23730008|SNOMEDCT_US:711329002|UMLS:C0030354	A tumor of the skin or mucous membrane with finger-like projections.	http://purl.obolibrary.org/obo/HP_0012740		
OBO:HP_0012741	Unilateral cryptorchidism	biolink:OntologyClass	hp	MSH:D003456|SNOMEDCT_US:268227001|UMLS:C0431664	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.	http://purl.obolibrary.org/obo/HP_0012741		Cryptorchidism, unilateral
OBO:HP_0012742	Thin fingernail	biolink:OntologyClass	hp	UMLS:C4022750	Fingernail that appears thin when viewed on end.	http://purl.obolibrary.org/obo/HP_0012742		Thin fingernail
OBO:HP_0012743	Abdominal obesity	biolink:OntologyClass	hp	MSH:D056128|SNOMEDCT_US:248311001|UMLS:C0311277	Excessive fat around the stomach and abdomen.	http://purl.obolibrary.org/obo/HP_0012743		Abdominal obesity|Central obesity
OBO:HP_0012744	Femoral aplasia	biolink:OntologyClass	hp	SNOMEDCT_US:47276000|UMLS:C0265629	Failure of the femur to develop.	http://purl.obolibrary.org/obo/HP_0012744		Absent thighbone|Absent femur|Aplasia of the femur
OBO:HP_0012745	Short palpebral fissure	biolink:OntologyClass	hp	SNOMEDCT_US:246802000|UMLS:C0423112	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.	http://purl.obolibrary.org/obo/HP_0012745	hposlim_core	Short opening between the eyelids|Decreased height of palpebral fissure|Short palpebral fissures
OBO:HP_0012746	Thin toenail	biolink:OntologyClass	hp	UMLS:C3554113	Toenail that appears thin when viewed on end.	http://purl.obolibrary.org/obo/HP_0012746		Thin toenail|Thin toenails
OBO:HP_0012747	Abnormal brainstem MRI signal intensity	biolink:OntologyClass	hp	UMLS:C4022749	A deviation from normal signal on magnetic resonance imaging (MRI) of the brainstem.	http://purl.obolibrary.org/obo/HP_0012747		
OBO:HP_0012748	Focal T2 hyperintense brainstem lesion	biolink:OntologyClass	hp	UMLS:C4022748	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.	http://purl.obolibrary.org/obo/HP_0012748		
OBO:HP_0012749	Focal T2 hypointense brainstem lesion	biolink:OntologyClass	hp	UMLS:C4022747	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.	http://purl.obolibrary.org/obo/HP_0012749		
OBO:HP_0012750	T2 hypointense brainstem	biolink:OntologyClass	hp	UMLS:C4022746	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.	http://purl.obolibrary.org/obo/HP_0012750		
OBO:HP_0012751	Abnormal basal ganglia MRI signal intensity	biolink:OntologyClass	hp	UMLS:C4022745	A deviation from normal signal on magnetic resonance imaging (MRI) of the basal ganglia.	http://purl.obolibrary.org/obo/HP_0012751		
OBO:HP_0012752	Focal T2 hypointense basal ganglia lesion	biolink:OntologyClass	hp	UMLS:C4022744	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.	http://purl.obolibrary.org/obo/HP_0012752		
OBO:HP_0012753	T2 hypointense basal ganglia	biolink:OntologyClass	hp	UMLS:C4022743	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.	http://purl.obolibrary.org/obo/HP_0012753		
OBO:HP_0012754	CNS hypermyelination	biolink:OntologyClass	hp	UMLS:C4022742	Increased amount of myelin in the central nervous system.	http://purl.obolibrary.org/obo/HP_0012754		
OBO:HP_0012755	Enlarged brainstem	biolink:OntologyClass	hp	UMLS:C4022741	Abnormal increase in size of the brainstem.	http://purl.obolibrary.org/obo/HP_0012755		
OBO:HP_0012756	CSF polymorphonuclear pleocytosis	biolink:OntologyClass	hp	UMLS:C4022740	An increased polymorphonuclear cell count in the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0012756		
OBO:HP_0012757	Abnormal neuron morphology	biolink:OntologyClass	hp	UMLS:C4022739	A structural anomaly of a neuron.	http://purl.obolibrary.org/obo/HP_0012757		Abnormal neuron shape|Abnormal neuronal morphology
OBO:HP_0012758	Neurodevelopmental delay	biolink:OntologyClass	hp	UMLS:C4022738		http://purl.obolibrary.org/obo/HP_0012758		
OBO:HP_0012759	Neurodevelopmental abnormality	biolink:OntologyClass	hp	UMLS:C4022737	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.	http://purl.obolibrary.org/obo/HP_0012759		
OBO:HP_0012760	Impaired social reciprocity	biolink:OntologyClass	hp	UMLS:C4022736	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.	http://purl.obolibrary.org/obo/HP_0012760		
OBO:HP_0012761	Absent mastoid	biolink:OntologyClass	hp	UMLS:C4021070	A developmental anomaly in which the mastoid process fails to form and is thus found to be congenitally absent.	http://purl.obolibrary.org/obo/HP_0012761		Absent mastoids|Failure of development of mastoid|Mastoid agenesis
OBO:HP_0012762	Cerebral white matter atrophy	biolink:OntologyClass	hp	UMLS:C4022735	The presence of atrophy (wasting) of the cerebral white matter.	http://purl.obolibrary.org/obo/HP_0012762		
OBO:HP_0012763	Paroxysmal dyspnea	biolink:OntologyClass	hp	MSH:D004418|SNOMEDCT_US:59265000|UMLS:C0013405	A sudden attack of dyspnea that occurs while the affected person is at rest.	http://purl.obolibrary.org/obo/HP_0012763		Paroxysmal dyspnoea
OBO:HP_0012764	Orthopnea	biolink:OntologyClass	hp	SNOMEDCT_US:62744007|UMLS:C0085619	A sensation of breathlessness in the recumbent position, relieved by sitting or standing.	http://purl.obolibrary.org/obo/HP_0012764		
OBO:HP_0012765	Widened cerebellar subarachnoid space	biolink:OntologyClass	hp	UMLS:C4022734	An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebellum.	http://purl.obolibrary.org/obo/HP_0012765		
OBO:HP_0012766	Widened cerebral subarachnoid space	biolink:OntologyClass	hp	UMLS:C4022733	An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebrum.	http://purl.obolibrary.org/obo/HP_0012766		
OBO:HP_0012767	Abnormal placental size	biolink:OntologyClass	hp	UMLS:C4022732	A deviation from normal size of the placenta.	http://purl.obolibrary.org/obo/HP_0012767		
OBO:HP_0012768	Neonatal asphyxia	biolink:OntologyClass	hp	MSH:D001238|SNOMEDCT_US:28314004|SNOMEDCT_US:413654009|UMLS:C0004045	Respiratory failure in the newborn.	http://purl.obolibrary.org/obo/HP_0012768		Asphyxia neonatorum
OBO:HP_0012769	Abnormal arm span	biolink:OntologyClass	hp	UMLS:C4022731	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)	http://purl.obolibrary.org/obo/HP_0012769		Abnormal arm span
OBO:HP_0012770	Reduced arm span	biolink:OntologyClass	hp	UMLS:C4022730	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).	http://purl.obolibrary.org/obo/HP_0012770		Reduced arm span
OBO:HP_0012771	Increased arm span	biolink:OntologyClass	hp	UMLS:C4022729	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).	http://purl.obolibrary.org/obo/HP_0012771		Increased arm span
OBO:HP_0012772	Abnormal upper to lower segment ratio	biolink:OntologyClass	hp	UMLS:C4022728	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.	http://purl.obolibrary.org/obo/HP_0012772		
OBO:HP_0012773	Reduced upper to lower segment ratio	biolink:OntologyClass	hp	UMLS:C1836996	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.	http://purl.obolibrary.org/obo/HP_0012773		
OBO:HP_0012774	Increased upper to lower segment ratio	biolink:OntologyClass	hp	UMLS:C1844571	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.	http://purl.obolibrary.org/obo/HP_0012774		
OBO:HP_0012775	Stellate iris	biolink:OntologyClass	hp	UMLS:C4022727	A lacy pattern or iris pigmentation that resembles the spokes of a bicycle wheel.	http://purl.obolibrary.org/obo/HP_0012775		
OBO:HP_0012776	Abnormal ciliary body morphology	biolink:OntologyClass	hp	UMLS:C4022726	A structural anomaly of the ciliary body.	http://purl.obolibrary.org/obo/HP_0012776		Abnormality of the ciliary body
OBO:HP_0012777	Retinal neoplasm	biolink:OntologyClass	hp	MSH:D019572|NCIT:C3262|SNOMEDCT_US:127002001|UMLS:C0524801	A tumor (abnormal growth of tissue) of the retina.	http://purl.obolibrary.org/obo/HP_0012777		
OBO:HP_0012778	Retinal astrocytic hamartoma	biolink:OntologyClass	hp	UMLS:C4022725	A glial tumor of the retinal nerve fiber layer arising from a retinal astrocyte.	http://purl.obolibrary.org/obo/HP_0012778		
OBO:HP_0012779	Transient hearing impairment	biolink:OntologyClass	hp	UMLS:C4022724	Hearing loss that occurs acutely and resolves completely.	http://purl.obolibrary.org/obo/HP_0012779		
OBO:HP_0012780	Neoplasm of the ear	biolink:OntologyClass	hp	MSH:D004428|NCIT:C3262|SNOMEDCT_US:363228008|UMLS:C0013449	A tumor (abnormal growth of tissue) of the ear.	http://purl.obolibrary.org/obo/HP_0012780		Ear tumor
OBO:HP_0012781	Mid-frequency hearing loss	biolink:OntologyClass	hp	UMLS:C4022723	A type of hearing impairment affecting primarily the middle frequencies of sound (1000 Hz to 3000 Hz).	http://purl.obolibrary.org/obo/HP_0012781		
OBO:HP_0012782	Perilobar nephrogenic rest	biolink:OntologyClass	hp	SNOMEDCT_US:405935000|UMLS:C1319017	A type of nephrogenic rest associated with multiple lesions in the periphery of the renal lobe.	http://purl.obolibrary.org/obo/HP_0012782		Perilobar nephrogenic rests
OBO:HP_0012783	Intralobar nephrogenic rest	biolink:OntologyClass	hp	SNOMEDCT_US:405934001|UMLS:C1319016	A type of nephrogenic rest usually representing single lesions within the renal lobe, renal sinus, or calyceal walls.	http://purl.obolibrary.org/obo/HP_0012783		Intralobar nephrogenic rests
OBO:HP_0012784	Perinephritis	biolink:OntologyClass	hp	MSH:D010501|SNOMEDCT_US:111404004|UMLS:C0031065	Inflammation of the connective and adipose tissues surrounding the kidney.	http://purl.obolibrary.org/obo/HP_0012784		
OBO:HP_0012785	Flexion contracture of finger	biolink:OntologyClass	hp	UMLS:C1857304	Chronic loss of joint motion in a finger due to structural changes in non-bony tissue.	http://purl.obolibrary.org/obo/HP_0012785		Flexion deformity of finger
OBO:HP_0012786	Recurrent cystitis	biolink:OntologyClass	hp	SNOMEDCT_US:197853008|UMLS:C0581366	Repeated infections of the urinary bladder.	http://purl.obolibrary.org/obo/HP_0012786		Recurrent bladder infections
OBO:HP_0012787	Recurrent pyelonephritis	biolink:OntologyClass	hp	UMLS:C0748199	Repeated episodes of pyelonephritis.	http://purl.obolibrary.org/obo/HP_0012787		
OBO:HP_0012788	Reticulate pigmentation of oral mucosa	biolink:OntologyClass	hp	UMLS:C1852148	A net-like pattern of increased pigmentation of the oral cavity.	http://purl.obolibrary.org/obo/HP_0012788		Mottled pigmentation of oral mucosa|Reticulate pigmentation of oral mucous membrane
OBO:HP_0012789	Hypoplasia of the calcaneus	biolink:OntologyClass	hp	UMLS:C3550873	Underdevelopment of the heel bone.	http://purl.obolibrary.org/obo/HP_0012789		Small heel bone|Underdeveloped heel bone|Hypoplastic calcaneus
OBO:HP_0012790	Abnormal intramembranous ossification	biolink:OntologyClass	hp	UMLS:C4021069	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.	http://purl.obolibrary.org/obo/HP_0012790		Abnormal intramembranous bone ossification
OBO:HP_0012791	Abnormal humeral ossification	biolink:OntologyClass	hp	UMLS:C4022722	An anomaly of the process of formation of bone in the humerus.	http://purl.obolibrary.org/obo/HP_0012791		Abnormal maturation of long bone in upper arm
OBO:HP_0012792	Absent ossification of thoracic vertebral bodies	biolink:OntologyClass	hp	UMLS:C4022721	A lack of bone mineralization of one or more body of thoracic vertebra.	http://purl.obolibrary.org/obo/HP_0012792		
OBO:HP_0012793	Kinked brainstem	biolink:OntologyClass	hp	UMLS:C4021068	A kinked appearance of the brainstem, i.e., an exaggerated flexure.	http://purl.obolibrary.org/obo/HP_0012793		Kinked brain stem
OBO:HP_0012794	Periventricular white matter hypodensities	biolink:OntologyClass	hp	UMLS:C4022720	Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles.	http://purl.obolibrary.org/obo/HP_0012794		Periventricular cerebral white matter hypodensities
OBO:HP_0012795	Abnormality of the optic disc	biolink:OntologyClass	hp	UMLS:C3808249	A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination.	http://purl.obolibrary.org/obo/HP_0012795		
OBO:HP_0012796	Increased cup-to-disc ratio	biolink:OntologyClass	hp	UMLS:C3805911	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.	http://purl.obolibrary.org/obo/HP_0012796		Elevated cup to disc ratio|Increased cup disc ratio
OBO:HP_0012797	Lymphatic vessel neoplasm	biolink:OntologyClass	hp	MSH:D018190|NCIT:C3262|SNOMEDCT_US:115236002|UMLS:C0206619	A benign or malignant neoplasm arising from the lymphatic vessels.	http://purl.obolibrary.org/obo/HP_0012797		Lymphatic vessel tumor
OBO:HP_0012798	Pulmonary lymphangiomyomatosis	biolink:OntologyClass	hp	MSH:D018192|SNOMEDCT_US:73017001|UMLS:C0238399|UMLS:C0751674	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.	http://purl.obolibrary.org/obo/HP_0012798		Pulmonary myomatosis|Lymphangioleiomyomatosis
OBO:HP_0012799	Unilateral facial palsy	biolink:OntologyClass	hp	UMLS:C0239516|UMLS:C4022719	One-sided weakness of the muscles of facial expression and eye closure.	http://purl.obolibrary.org/obo/HP_0012799		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
OBO:HP_0012800	Accessory cranial suture	biolink:OntologyClass	hp	UMLS:C4021067|UMLS:C4022927	A cranial suture that is in addition to canonical membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant.	http://purl.obolibrary.org/obo/HP_0012800		Extra cranial suture|Supernumary cranial suture|Accessory fontanelle|Extra fontanelle|Supernumary fontanelle
OBO:HP_0012801	Narrow jaw	biolink:OntologyClass	hp	UMLS:C4021066|UMLS:C4280310	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).	http://purl.obolibrary.org/obo/HP_0012801		Narrow jaw|Narrow lower face|Narrow lower jaw|Thin lower face|Thin lower jaw|Narrow mandible
OBO:HP_0012802	Broad jaw	biolink:OntologyClass	hp	UMLS:C3281059	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).	http://purl.obolibrary.org/obo/HP_0012802		Broad jaw|Broad lower face|Wide jaw|Broad mandible|Wide mandible
OBO:HP_0012803	Anisometropia	biolink:OntologyClass	hp	MSH:D015858|SNOMEDCT_US:3289004|UMLS:C0003081	Inequality of refractive power of the two eyes.	http://purl.obolibrary.org/obo/HP_0012803		
OBO:HP_0012804	Corneal ulceration	biolink:OntologyClass	hp	MSH:D003320|SNOMEDCT_US:91514001|UMLS:C0010043	Disruption of the epithelial layer of the cornea with involvement of the underlying stroma.	http://purl.obolibrary.org/obo/HP_0012804		Corneal ulcer|Corneal ulcerations
OBO:HP_0012805	Iris transillumination defect	biolink:OntologyClass	hp	UMLS:C1096099	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.	http://purl.obolibrary.org/obo/HP_0012805		
OBO:HP_0012806	Proboscis	biolink:OntologyClass	hp	UMLS:C0687082	A fleshy, tube-like structure usually located in the midline of the face or just to one side of the midline.	http://purl.obolibrary.org/obo/HP_0012806		
OBO:HP_0012807	High insertion of columella	biolink:OntologyClass	hp	UMLS:C4020909	Insertion of the posterior columella superior to the nasal base.	http://purl.obolibrary.org/obo/HP_0012807	hposlim_core	Ala lower than columella|Columella, high insertion
OBO:HP_0012808	Abnormal nasal base	biolink:OntologyClass	hp	UMLS:C4022718	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.	http://purl.obolibrary.org/obo/HP_0012808		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
OBO:HP_0012809	Narrow nasal base	biolink:OntologyClass	hp	UMLS:C4022717	Decreased distance between the attachments of the alae nasi to the face.	http://purl.obolibrary.org/obo/HP_0012809		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
OBO:HP_0012810	Wide nasal base	biolink:OntologyClass	hp	UMLS:C1849667	Increased distance between the attachments of the alae nasi to the face.	http://purl.obolibrary.org/obo/HP_0012810		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
OBO:HP_0012811	Wide nasal ridge	biolink:OntologyClass	hp	UMLS:C4020718	Increased width of the nasal ridge.	http://purl.obolibrary.org/obo/HP_0012811		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
OBO:HP_0012812	Fullness of paranasal tissue	biolink:OntologyClass	hp	UMLS:C4021065|UMLS:C4280308|UMLS:C4280309	Increased bulk of tissue alongside the nose. The fullness can be caused by both bony and soft tissues.	http://purl.obolibrary.org/obo/HP_0012812		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
OBO:HP_0012813	Unilateral breast hypoplasia	biolink:OntologyClass	hp	UMLS:C1844722	Underdevelopment of the breast on one side only.	http://purl.obolibrary.org/obo/HP_0012813		One underdeveloped breast
OBO:HP_0012814	Bilateral breast hypoplasia	biolink:OntologyClass	hp	UMLS:C4022716	Underdevelopment of the breast on both sides.	http://purl.obolibrary.org/obo/HP_0012814		Two underdeveloped breasts
OBO:HP_0012815	Hypoplastic female external genitalia	biolink:OntologyClass	hp	UMLS:C4022715	Underdevelopment of part or all of the female external reproductive organs (which include the mons pubis, labia majora, labia minora, Bartholin glands, and clitoris).	http://purl.obolibrary.org/obo/HP_0012815		Underdeveloped female external genitalia
OBO:HP_0012816	Right ventricular noncompaction cardiomyopathy	biolink:OntologyClass	hp	UMLS:C4022714	A predominantly right ventricular variant of isolated noncompaction cardiomyopathy.	http://purl.obolibrary.org/obo/HP_0012816		
OBO:HP_0012817	Noncompaction cardiomyopathy	biolink:OntologyClass	hp	UMLS:C1839832	A type of cardiomyopathy characterized anatomically by deep trabeculations in the ventricular wall, which define recesses communicating with the main ventricular chamber.	http://purl.obolibrary.org/obo/HP_0012817		Noncompaction of the ventricular myocardium|Spongiform cardiomyopathy
OBO:HP_0012818	Biventricular noncompaction cardiomyopathy	biolink:OntologyClass	hp	UMLS:C4022713	Noncompaction cardiomyopathy that affects both ventricles.	http://purl.obolibrary.org/obo/HP_0012818		
OBO:HP_0012819	Myocarditis	biolink:OntologyClass	hp	MSH:D009205|SNOMEDCT_US:50920009|UMLS:C0027059	Inflammation of the myocardium.	http://purl.obolibrary.org/obo/HP_0012819		Inflammation of heart muscle
OBO:HP_0012820	Bilateral vocal cord paralysis	biolink:OntologyClass	hp	UMLS:C2146481	A loss of the ability to move the vocal fold on both sides.	http://purl.obolibrary.org/obo/HP_0012820		
OBO:HP_0012821	Unilateral vocal cord paresis	biolink:OntologyClass	hp	MSH:D014826|UMLS:C0751577	Decreased strength of the vocal fold on one side.	http://purl.obolibrary.org/obo/HP_0012821		
OBO:HP_0012822	Bilateral vocal cord paresis	biolink:OntologyClass	hp	MSH:D014826|UMLS:C0751574	Decreased strength of the vocal fold on both sides.	http://purl.obolibrary.org/obo/HP_0012822		
OBO:HP_0012823	Clinical modifier	biolink:OntologyClass	hp	UMLS:C4021064	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.	http://purl.obolibrary.org/obo/HP_0012823		Phenotypic modifier
OBO:HP_0012824	Severity	biolink:OntologyClass	hp	SNOMEDCT_US:103370009|UMLS:C0522510	The intensity or degree of a manifestation.	http://purl.obolibrary.org/obo/HP_0012824		Intensity
OBO:HP_0012825	Mild	biolink:OntologyClass	hp	SNOMEDCT_US:446411000124101|UMLS:C1513302	Having a relatively minor degree of severity. For quantitative traits, a deviation of between two and three standard deviations from the appropriate population mean.	http://purl.obolibrary.org/obo/HP_0012825		Mild
OBO:HP_0012826	Moderate	biolink:OntologyClass	hp	SNOMEDCT_US:446421000124109|SNOMEDCT_US:6736007|UMLS:C0205081	Having a medium degree of severity. For quantitative traits, a deviation of between three and four standard deviations from the appropriate population mean.	http://purl.obolibrary.org/obo/HP_0012826		
OBO:HP_0012827	Borderline	biolink:OntologyClass	hp	UMLS:C0205189	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.	http://purl.obolibrary.org/obo/HP_0012827		Borderline
OBO:HP_0012828	Severe	biolink:OntologyClass	hp	SNOMEDCT_US:24484000|UMLS:C0205082	Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean.	http://purl.obolibrary.org/obo/HP_0012828		Severe
OBO:HP_0012829	Profound	biolink:OntologyClass	hp	SNOMEDCT_US:795002|UMLS:C0439808	Having an extremely high degree of severity. For quantitative traits, a deviation of more than five standard deviations from the appropriate population mean.	http://purl.obolibrary.org/obo/HP_0012829		Profound
OBO:HP_0012830	Position	biolink:OntologyClass	hp	UMLS:C4019252	The anatomical localization of the specified phenotypic abnormality.	http://purl.obolibrary.org/obo/HP_0012830		
OBO:HP_0012831	Laterality	biolink:OntologyClass	hp	SNOMEDCT_US:272741003|UMLS:C0332304	The localization with respect to the side of the body of the specified phenotypic abnormality.	http://purl.obolibrary.org/obo/HP_0012831		
OBO:HP_0012832	Bilateral	biolink:OntologyClass	hp	SNOMEDCT_US:51440002|UMLS:C0238767	Being present on both sides of the body.	http://purl.obolibrary.org/obo/HP_0012832		
OBO:HP_0012833	Unilateral	biolink:OntologyClass	hp	SNOMEDCT_US:66459002|UMLS:C0205092	Being present on only the left or only the right side of the body.	http://purl.obolibrary.org/obo/HP_0012833		
OBO:HP_0012834	Right	biolink:OntologyClass	hp	SNOMEDCT_US:264180000|UMLS:C0444532	Being located on the right side of the body.	http://purl.obolibrary.org/obo/HP_0012834		Right-sided
OBO:HP_0012835	Left	biolink:OntologyClass	hp	SNOMEDCT_US:263795004|UMLS:C0443246	Being located on the left side of the body.	http://purl.obolibrary.org/obo/HP_0012835		Left-sided
OBO:HP_0012836	Spatial pattern	biolink:OntologyClass	hp	UMLS:C4022711	The pattern by which a phenotype affects one or more regions of the body.	http://purl.obolibrary.org/obo/HP_0012836		
OBO:HP_0012837	Generalized	biolink:OntologyClass	hp	SNOMEDCT_US:60132005|UMLS:C0205246	Affecting all regions without specificity of distribution.	http://purl.obolibrary.org/obo/HP_0012837		Generalised
OBO:HP_0012838	Localized	biolink:OntologyClass	hp	SNOMEDCT_US:255471002|UMLS:C0392752	Being confined or restricted to a particular location.	http://purl.obolibrary.org/obo/HP_0012838		Localized|Localised
OBO:HP_0012839	Distal	biolink:OntologyClass	hp	SNOMEDCT_US:46053002|UMLS:C0205108	Localized away from the central point of the body.	http://purl.obolibrary.org/obo/HP_0012839		Outermost
OBO:HP_0012840	Proximal	biolink:OntologyClass	hp	SNOMEDCT_US:40415009|UMLS:C0205107	Localized close to the central point of the body.	http://purl.obolibrary.org/obo/HP_0012840		
OBO:HP_0012841	Retinal vascular tortuosity	biolink:OntologyClass	hp	UMLS:C1860475	The presence of an increased number of twists and turns of the retinal blood vessels.	http://purl.obolibrary.org/obo/HP_0012841		Tortuous retinal vessels
OBO:HP_0012842	Skin appendage neoplasm	biolink:OntologyClass	hp	NCIT:C3262|SNOMEDCT_US:126489007|SNOMEDCT_US:55681005|UMLS:C0345988	A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands.	http://purl.obolibrary.org/obo/HP_0012842		Skin adnexal neoplasm|Skin adnexal tumor
OBO:HP_0012843	Hair follicle neoplasm	biolink:OntologyClass	hp	NCIT:C3262|SNOMEDCT_US:44155009|UMLS:C0859920	An uncontrolled autonomous cell-proliferation originating in a hair follicle, which is an epidermal adnexal structures responsible for hair growth.	http://purl.obolibrary.org/obo/HP_0012843		
OBO:HP_0012844	Trichilemmoma	biolink:OntologyClass	hp	SNOMEDCT_US:274900003|SNOMEDCT_US:46199002|UMLS:C0334263	A benign tumour originating from the outer root sheath of the hair follicle.	http://purl.obolibrary.org/obo/HP_0012844		Tricholemmoma
OBO:HP_0012845	Single trichilemmoma	biolink:OntologyClass	hp	UMLS:C4022710	Presence of a unitary trichilemmoma, a benign tumour originating from the outer root sheath of the hair follicle.	http://purl.obolibrary.org/obo/HP_0012845		
OBO:HP_0012846	Multiple trichilemmomata	biolink:OntologyClass	hp	UMLS:C4021063	Presence of multiple trichilemmomata, a benign tumour originating from the outer root sheath of the hair follicle.	http://purl.obolibrary.org/obo/HP_0012846		Multiple trichilemmomas
OBO:HP_0012847	Epilepsia partialis continua	biolink:OntologyClass	hp	MSH:D017036|SNOMEDCT_US:241006|UMLS:C0085543	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).	http://purl.obolibrary.org/obo/HP_0012847		Epilepsia partialis continua of Kojevnikov|Kojevnikov's epilepsia|Kozhevnikov's epilepsia
OBO:HP_0012848	Small intestinal stenosis	biolink:OntologyClass	hp	UMLS:C0151924	The narrowing or partial blockage of a portion of the small intestine.	http://purl.obolibrary.org/obo/HP_0012848		Narrowing of small intestine
OBO:HP_0012849	Small intestinal bleeding	biolink:OntologyClass	hp	SNOMEDCT_US:70375006|UMLS:C0520561	Bleeding from the small intestine.	http://purl.obolibrary.org/obo/HP_0012849		Small intestinal bleeding|Small intestinal hemorrhage
OBO:HP_0012850	Small intestinal dysmotility	biolink:OntologyClass	hp	SNOMEDCT_US:253768006|UMLS:C0345200	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.	http://purl.obolibrary.org/obo/HP_0012850		
OBO:HP_0012851	Colonic stenosis	biolink:OntologyClass	hp	SNOMEDCT_US:19132000|SNOMEDCT_US:8543007|UMLS:C0267466	A narrowing of a segment of colon whereby bowel continuity is maintained.	http://purl.obolibrary.org/obo/HP_0012851		Narrowing of the colon|Stenosis of the colon
OBO:HP_0012852	Hepatic bridging fibrosis	biolink:OntologyClass	hp	UMLS:C4022709	Hepatic fibrosis that reaches from a portal area to another portal area.	http://purl.obolibrary.org/obo/HP_0012852		
OBO:HP_0012853	Scrotal hypospadias	biolink:OntologyClass	hp	SNOMEDCT_US:702462000|UMLS:C2197691	Hypospadias with location of the urethral meatus in the scrotum.	http://purl.obolibrary.org/obo/HP_0012853		
OBO:HP_0012854	Midshaft hypospadias	biolink:OntologyClass	hp	UMLS:C4022708	Hypospadias with location of the urethral meatus in the middle of the inferior shaft of the penis.	http://purl.obolibrary.org/obo/HP_0012854		
OBO:HP_0012855	Scrotal hyperpigmentation	biolink:OntologyClass	hp	UMLS:C4021062	Increased pigmentation (skin color) of the scrotum.	http://purl.obolibrary.org/obo/HP_0012855		Hyperpigmentation of the scrotum|Hyperpigmented scrotum|Increased pigmentation in scrotum
OBO:HP_0012856	Abnormal scrotal rugation	biolink:OntologyClass	hp	UMLS:C4022707	Anomaly of the folded ridges (wrinkles) of skin of the scrotum.	http://purl.obolibrary.org/obo/HP_0012856		
OBO:HP_0012857	Increased scrotal rugation	biolink:OntologyClass	hp	UMLS:C4022706	Increased number or density of the folded ridges (wrinkles) of skin of the scrotum.	http://purl.obolibrary.org/obo/HP_0012857		
OBO:HP_0012858	Decreased scrotal rugation	biolink:OntologyClass	hp	UMLS:C4022705	Decreased number or density of the folded ridges (wrinkles) of skin of the scrotum.	http://purl.obolibrary.org/obo/HP_0012858		
OBO:HP_0012859	Esophageal leukoplakia	biolink:OntologyClass	hp	SNOMEDCT_US:89057003|UMLS:C0267095	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.	http://purl.obolibrary.org/obo/HP_0012859		Esophageal epidermoid metaplasia
OBO:HP_0012860	Testicular fibrosis	biolink:OntologyClass	hp	UMLS:C4021061	Formation of excess connective tissue in the testicle.	http://purl.obolibrary.org/obo/HP_0012860		Fibrotic testes|Fibrotic testicle
OBO:HP_0012861	Ovotestis	biolink:OntologyClass	hp	MSH:D050090|SNOMEDCT_US:18978002|UMLS:C0266361	A gonad that contains both ovarian follicles and testicular tubular elements.	http://purl.obolibrary.org/obo/HP_0012861		
OBO:HP_0012862	Abnormal germ cell morphology	biolink:OntologyClass	hp	UMLS:C4022704	Any structural anomaly of a reproductive cell.	http://purl.obolibrary.org/obo/HP_0012862		Abnormally shaped reproductive cell|Abnormal shape of a reproductive cell|Abnormally shaped germ cell
OBO:HP_0012863	Abnormal male germ cell morphology	biolink:OntologyClass	hp	UMLS:C4022703	A structural anomaly of a male reproductive cell.	http://purl.obolibrary.org/obo/HP_0012863		
OBO:HP_0012864	Abnormal sperm morphology	biolink:OntologyClass	hp	MSH:D000072660|SNOMEDCT_US:236817003|UMLS:C0403824	A structural anomaly of sperm.	http://purl.obolibrary.org/obo/HP_0012864		Abnormal shape of sperm|Teratospermia|Teratozoospermia
OBO:HP_0012865	Abnormal sperm head morphology	biolink:OntologyClass	hp	UMLS:C4022702	A structural abnormality of the sperm head.	http://purl.obolibrary.org/obo/HP_0012865		Sperm head anomaly
OBO:HP_0012866	Abnormal sperm neck morphology	biolink:OntologyClass	hp	UMLS:C4022701	A structural abnormality of the sperm neck.	http://purl.obolibrary.org/obo/HP_0012866		Sperm neck anomaly
OBO:HP_0012867	Abnormal sperm mid-piece morphology	biolink:OntologyClass	hp	UMLS:C4022700	A structural abnormality of the sperm mid-piece.	http://purl.obolibrary.org/obo/HP_0012867		Sperm mid-piece anomaly
OBO:HP_0012868	Abnormal sperm tail morphology	biolink:OntologyClass	hp	UMLS:C4022699	A structural abnormality of the sperm tail.	http://purl.obolibrary.org/obo/HP_0012868		Sperm tail anomaly
OBO:HP_0012869	Acephalic spermatozoa	biolink:OntologyClass	hp	UMLS:C4022698	Spermatozoa with very small cranial ends devoid of any nuclear material, that is, lacking a typical sperm head.	http://purl.obolibrary.org/obo/HP_0012869		
OBO:HP_0012870	Vanishing testis	biolink:OntologyClass	hp	MSH:C537770|SNOMEDCT_US:53599007|UMLS:C0266427	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.	http://purl.obolibrary.org/obo/HP_0012870		Vanishing testis|Testicular regression syndrome
OBO:HP_0012871	Varicocele	biolink:OntologyClass	hp	MSH:D014646|SNOMEDCT_US:46871008|SNOMEDCT_US:51070004|UMLS:C0042341	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.	http://purl.obolibrary.org/obo/HP_0012871		Vaginal varicocele
OBO:HP_0012872	Abnormal vas deferens morphology	biolink:OntologyClass	hp	UMLS:C4022697	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.	http://purl.obolibrary.org/obo/HP_0012872		
OBO:HP_0012873	Absent vas deferens	biolink:OntologyClass	hp	SNOMEDCT_US:300506000|SNOMEDCT_US:5286009|SNOMEDCT_US:702610009|UMLS:C0266444	Aplasia (congenital absence) of the vas deferens.	http://purl.obolibrary.org/obo/HP_0012873		Absent deferent duct|Absent ductus deferens|Congenital absence of the vas deferens
OBO:HP_0012874	Abnormal male reproductive system physiology	biolink:OntologyClass	hp	UMLS:C4020716	An abnormal functionality of the male genital system.	http://purl.obolibrary.org/obo/HP_0012874		Abnormal male genital system physiology
OBO:HP_0012875	Abnormal ejaculation	biolink:OntologyClass	hp	SNOMEDCT_US:386674000|UMLS:C2937350	Abnormality in the process of ejection of semen (usually carrying sperm) from the male reproductive tract.	http://purl.obolibrary.org/obo/HP_0012875		
OBO:HP_0012876	Premature ejaculation	biolink:OntologyClass	hp	MSH:D061686|SNOMEDCT_US:44001008|UMLS:C0033038	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.	http://purl.obolibrary.org/obo/HP_0012876		Premature ejaculation
OBO:HP_0012877	Retrograde ejaculation	biolink:OntologyClass	hp	SNOMEDCT_US:50112006|UMLS:C0403673	The emission of semen and seminal fluid into the bladder instead of through the penis during orgasm.	http://purl.obolibrary.org/obo/HP_0012877		
OBO:HP_0012878	Retarded ejaculation	biolink:OntologyClass	hp	SNOMEDCT_US:15405008|UMLS:C0234047	Difficulty of a male in achieving orgasm.	http://purl.obolibrary.org/obo/HP_0012878		Delayed ejaculation
OBO:HP_0012879	Anejaculation	biolink:OntologyClass	hp	SNOMEDCT_US:248782001|SNOMEDCT_US:42288005|UMLS:C0278106	Inability to ejaculate.	http://purl.obolibrary.org/obo/HP_0012879		Ejaculatory incompetence
OBO:HP_0012880	Abnormal labia minora morphology	biolink:OntologyClass	hp	UMLS:C4022696	An anomaly of the labia minora, the folds of skin between the outer labia.	http://purl.obolibrary.org/obo/HP_0012880		Abnormality of the inner vaginal lips|Abnormality of the labia minora
OBO:HP_0012881	Abnormal labia majora morphology	biolink:OntologyClass	hp	UMLS:C4022695	An anomaly of the outer labia.	http://purl.obolibrary.org/obo/HP_0012881		Abnormality of vaginal lips|Abnormality of the labia majora
OBO:HP_0012882	Hyperplastic labia majora	biolink:OntologyClass	hp	UMLS:C4021060	Overgrowth of the outer labia.	http://purl.obolibrary.org/obo/HP_0012882		Enlarged labia majora|Hyperplasia of labia majora
OBO:HP_0012883	Fallopian tube cyst	biolink:OntologyClass	hp	SNOMEDCT_US:59401005|UMLS:C0269173	A fluid filled sac located in the Fallopian tube.	http://purl.obolibrary.org/obo/HP_0012883		
OBO:HP_0012884	Fallopian tube torsion	biolink:OntologyClass	hp	SNOMEDCT_US:46946009|UMLS:C0269169	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.	http://purl.obolibrary.org/obo/HP_0012884		Twisted fallopian tube
OBO:HP_0012885	Fallopian tube duplication	biolink:OntologyClass	hp	SNOMEDCT_US:48672005|UMLS:C0266375	The presence of a supernumerary Fallopian tube.	http://purl.obolibrary.org/obo/HP_0012885		Accessory fallopian tube
OBO:HP_0012886	Hemorrhagic ovarian cyst	biolink:OntologyClass	hp	SNOMEDCT_US:119420007|UMLS:C0473311	An abdominal mass formed by bleeding into a follicular ovarian cyst or corpus luteum cyst.	http://purl.obolibrary.org/obo/HP_0012886		
OBO:HP_0012887	Ovarian serous cystadenoma	biolink:OntologyClass	hp	SNOMEDCT_US:119421006|UMLS:C0346170|UMLS:C4020715	A cystic tumor of the ovary, containing thin, clear, yellow serous fluid and varying amounts of solid tissue.	http://purl.obolibrary.org/obo/HP_0012887		Serous ovarian cyst
OBO:HP_0012888	Abnormality of the uterine cervix	biolink:OntologyClass	hp	UMLS:C4022694	An anomaly of the neck of the uterus (lower part of the uterus), called the uterine cervix.	http://purl.obolibrary.org/obo/HP_0012888		
OBO:HP_0012889	Cervical endometriosis	biolink:OntologyClass	hp	SNOMEDCT_US:61640006|UMLS:C0269107	Abnormal growth of endometrial cells (which are normally limited to the uterus) within the cervix.	http://purl.obolibrary.org/obo/HP_0012889		
OBO:HP_0012890	Posteriorly placed anus	biolink:OntologyClass	hp	UMLS:C4022693	Posterior malposition of the anus.	http://purl.obolibrary.org/obo/HP_0012890		
OBO:HP_0012891	High posterior hairline	biolink:OntologyClass	hp	UMLS:C4022692	Hair on the neck extends less inferiorly than usual.	http://purl.obolibrary.org/obo/HP_0012891		High hairline at back of head
OBO:HP_0012892	Facial muscle hypertrophy	biolink:OntologyClass	hp	UMLS:C4022691|UMLS:C4280307	Hypertrophy of one or more muscles innervated by the facial nerve (the seventh cranial nerve).	http://purl.obolibrary.org/obo/HP_0012892		Increased size of facial muscles|Large facial muscles|Hyperplasia of facial muscles
OBO:HP_0012893	Neck muscle hypertrophy	biolink:OntologyClass	hp	UMLS:C4022690|UMLS:C4280306	Muscle hypertrophy affecting the muscles of the neck.	http://purl.obolibrary.org/obo/HP_0012893		Increased size of neck muscles|Large neck muscles|Overgrowth of neck muscles|Hypertrophy of cervical muscles|Hyperplasia of neck muscles
OBO:HP_0012894	Paraspinal muscle hypertrophy	biolink:OntologyClass	hp	UMLS:C4022689	Muscle hypertrophy affecting the paraspinal muscles.	http://purl.obolibrary.org/obo/HP_0012894		
OBO:HP_0012895	Scapular muscle hypertrophy	biolink:OntologyClass	hp	UMLS:C4022688	Muscle hypertrophy affecting the scapular muscles.	http://purl.obolibrary.org/obo/HP_0012895		
OBO:HP_0012896	Abnormal motor evoked potentials	biolink:OntologyClass	hp	UMLS:C4022687	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.	http://purl.obolibrary.org/obo/HP_0012896		
OBO:HP_0012897	Abnormal upper-limb motor evoked potentials	biolink:OntologyClass	hp	UMLS:C4021059	An anomaly identified by motor evoked potentials (MEPs) in the arm.	http://purl.obolibrary.org/obo/HP_0012897		Abnormal motor evoked potentials in the upper limb
OBO:HP_0012898	Abnormal lower-limb motor evoked potentials	biolink:OntologyClass	hp	UMLS:C4021058	An anomaly identified by motor evoked potentials (MEPs) in the leg.	http://purl.obolibrary.org/obo/HP_0012898		Abnormal motor evoked potentials in the lower limb
OBO:HP_0012899	Handgrip myotonia	biolink:OntologyClass	hp	UMLS:C1868623	Difficulty releasing one's grip associated with prolonged first handgrip relaxation times.	http://purl.obolibrary.org/obo/HP_0012899		Grip myotonia
OBO:HP_0012900	Myotonia of the face	biolink:OntologyClass	hp	UMLS:C4022686	Slowed relaxation of muscles in the face.	http://purl.obolibrary.org/obo/HP_0012900		
OBO:HP_0012901	Myotonia of the jaw	biolink:OntologyClass	hp	UMLS:C4022685	Slowed relaxation of muscles in the jaw.	http://purl.obolibrary.org/obo/HP_0012901		
OBO:HP_0012902	Myotonia of the lower limb	biolink:OntologyClass	hp	UMLS:C4022684	Slowed relaxation of muscles in the leg.	http://purl.obolibrary.org/obo/HP_0012902		
OBO:HP_0012903	Myotonia of the upper limb	biolink:OntologyClass	hp	UMLS:C4022683	Slowed relaxation of muscles in the arm.	http://purl.obolibrary.org/obo/HP_0012903		
OBO:HP_0012904	Cold-sensitive myotonia	biolink:OntologyClass	hp	UMLS:C4022682	An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation that is induced by exposure to cold.	http://purl.obolibrary.org/obo/HP_0012904		
OBO:HP_0012905	Euryblepharon	biolink:OntologyClass	hp	SNOMEDCT_US:400954002|UMLS:C1303001|UMLS:C4280305	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.	http://purl.obolibrary.org/obo/HP_0012905		Kabuki syndrome eyelids
OBO:HP_0020006	Ciliary body coloboma	biolink:OntologyClass	hp	UMLS:C4072884	A coloboma of the ciliary body.	http://purl.obolibrary.org/obo/HP_0020006		
OBO:HP_0020034	Diffuse	biolink:OntologyClass	hp	SNOMEDCT_US:19648000|UMLS:C0205219	A spatial pattern that is spread out, i.e., not localized.	http://purl.obolibrary.org/obo/HP_0020034		
OBO:HP_0020035	Lower limb dysmetria	biolink:OntologyClass	hp		A lack of coordination of leg movement manifested by undershoot or overshoot of the intended position of the leg.	http://purl.obolibrary.org/obo/HP_0020035		
OBO:HP_0020036	Upper limb dysmetria	biolink:OntologyClass	hp		A lack of coordination of arm movement manifested by undershoot or overshoot of the intended position of the arm.	http://purl.obolibrary.org/obo/HP_0020036		
OBO:HP_0020037	Astasia	biolink:OntologyClass	hp		A postural abnormality characterized by the inability to stand without external support despite having sufficient muscle strength.	http://purl.obolibrary.org/obo/HP_0020037		
OBO:HP_0020038	Vertebrobasilar dolichoectasia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0020038		
OBO:HP_0020041	Double elevator palsy	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0020041		
OBO:HP_0020042	Double depressor palsy	biolink:OntologyClass	hp		An ocular movement abnormality characterised by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye.	http://purl.obolibrary.org/obo/HP_0020042		
OBO:HP_0020043	Vertical incomitant strabismus	biolink:OntologyClass	hp		A type of incomitant strabismus in which the angle of deviation varies as the patient's gaze shifts upwards and/or downwards.	http://purl.obolibrary.org/obo/HP_0020043		
OBO:HP_0020044	Horizontal incomitant strabismus	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0020044		
OBO:HP_0020045	Esodeviation	biolink:OntologyClass	hp		A manifest or latent ocular deviation in which one or both eyes tends to deviate nasally.	http://purl.obolibrary.org/obo/HP_0020045		Convergent strabismus
OBO:HP_0020046	Accommodative esotropia	biolink:OntologyClass	hp		A form of esotropia (convergent deviation of the eyes) associated with activation of the accommodative reflex.	http://purl.obolibrary.org/obo/HP_0020046		
OBO:HP_0020047	Abnormal myeloid cell morphology	biolink:OntologyClass	hp		Any structural anomaly of a cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage.	http://purl.obolibrary.org/obo/HP_0020047		
OBO:HP_0020048	Reduced bone-marrow pro-B cell count	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0020048		
OBO:HP_0020049	Exodeviation	biolink:OntologyClass	hp		A manifest or latent ocular deviation in which one or both eyes tends to deviate temporally.	http://purl.obolibrary.org/obo/HP_0020049		Divergent strabismus
OBO:HP_0020050	Anti-granulocyte-macrophage colony stimulating factor antibody positivity	biolink:OntologyClass	hp		The presence of autoantibodies in the serum that react against granulocyte-macrophage colony stimulating factor.	http://purl.obolibrary.org/obo/HP_0020050		Anti-GM-CSF antibody positivity
OBO:HP_0020054	Abnormal erythrocyte physiology	biolink:OntologyClass	hp		Any functional abnormality of erythrocytes (red-blood cells).	http://purl.obolibrary.org/obo/HP_0020054		
OBO:HP_0020058	Abnormal red blood cell count	biolink:OntologyClass	hp		Any deviation from the normal number of red blood cells per volume in the circulation.	http://purl.obolibrary.org/obo/HP_0020058		Abnormal RBC count
OBO:HP_0020059	Increased red blood cell count	biolink:OntologyClass	hp		An abnormal elevation above the normal number of red blood cells per volume in the circulation.	http://purl.obolibrary.org/obo/HP_0020059		Increased RBC count
OBO:HP_0020060	Decreased red blood cell count	biolink:OntologyClass	hp		An abnormal reduction below the normal number of red blood cells per volume in the circulation.	http://purl.obolibrary.org/obo/HP_0020060		Decreased RBC count
OBO:HP_0020061	Abnormal hemoglobin concentration	biolink:OntologyClass	hp		Any deviation from the normal concentration of hemoglobin in the blood.	http://purl.obolibrary.org/obo/HP_0020061		Abnormal Hb concentration|Abnormal haemoglobin concentration
OBO:HP_0020062	Decreased hemoglobin concentration	biolink:OntologyClass	hp		An abnormal reduction below normal hemoglobin concentration in the circulation.	http://purl.obolibrary.org/obo/HP_0020062		Decreased Hb concentration|Decreased haemoglobin concentration
OBO:HP_0020063	Increased hemoglobin concentration	biolink:OntologyClass	hp		An abnormal elevation above normal hemoglobin concentration in the circulation.	http://purl.obolibrary.org/obo/HP_0020063		Increased Hb concentration|Increased haemoglobin concentration
OBO:HP_0020064	Abnormal eosinophil count	biolink:OntologyClass	hp		Any deviation from the normal number of eosinophils per volume in the blood circulation.	http://purl.obolibrary.org/obo/HP_0020064		
OBO:HP_0020071	Viremia	biolink:OntologyClass	hp		The presence of virus in the blood.	http://purl.obolibrary.org/obo/HP_0020071		
OBO:HP_0020072	Persistent EBV viremia	biolink:OntologyClass	hp		Persistent presence of Epstein-Barr virus in the blood.	http://purl.obolibrary.org/obo/HP_0020072		
OBO:HP_0020073	Hypopigmented macule	biolink:OntologyClass	hp		A white or lighter patch of skin that may appear anywhere on the body and are caused by decreased skin pigmentation.	http://purl.obolibrary.org/obo/HP_0020073		
OBO:HP_0020074	Crystalluria	biolink:OntologyClass	hp		The presence of crystals in the urine.	http://purl.obolibrary.org/obo/HP_0020074		
OBO:HP_0020075	Leucine crystalluria	biolink:OntologyClass	hp		The presence of leuucine crystals in the urine.	http://purl.obolibrary.org/obo/HP_0020075		
OBO:HP_0020076	Wrist ganglion	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0020076		Ganglion cyst of the wrist
OBO:HP_0020077	Carnitinuria	biolink:OntologyClass	hp		An elevated level of carnitine in the urine.	http://purl.obolibrary.org/obo/HP_0020077		
OBO:HP_0020078	Alaninuria	biolink:OntologyClass	hp		An increased level of alanine in the urine.	http://purl.obolibrary.org/obo/HP_0020078		Increased urinary alanine
OBO:HP_0020079	Beta-alaninuria	biolink:OntologyClass	hp		An increased level of beta-alanine in the urine.	http://purl.obolibrary.org/obo/HP_0020079		
OBO:HP_0020080	Erythrocyte inclusion bodies	biolink:OntologyClass	hp		Nuclear or cytoplasmic aggregates of substances in red blood cells.	http://purl.obolibrary.org/obo/HP_0020080		
OBO:HP_0020081	Pappenheimer bodies	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0020081		
OBO:HP_0020082	Heinz bodies	biolink:OntologyClass	hp		A type of erythrocyte inclusion composed of denatured hemoglobin.	http://purl.obolibrary.org/obo/HP_0020082		
OBO:HP_0020083	Furuncle	biolink:OntologyClass	hp		An infection of a hair follicle that extends subcutaneously, forming an abscess.	http://purl.obolibrary.org/obo/HP_0020083		Boil
OBO:HP_0020084	Carbuncle	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0020084		
OBO:HP_0020085	Infection following live vaccination	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0020085		
OBO:HP_0020086	BCGitis	biolink:OntologyClass	hp		Local or regional infection with Bacillus Calmette-Guerin (BCG) following vaccination.	http://purl.obolibrary.org/obo/HP_0020086		
OBO:HP_0020087	BCGosis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0020087		BCGiosis|Disseminated Bacillus Calmette-Guerin infection
OBO:HP_0020088	Post-vaccination measles	biolink:OntologyClass	hp		Infection with the measles virus of the live-attenuated vaccine. This is an extremely rare event and may indicate immunocompromise in some cases.	http://purl.obolibrary.org/obo/HP_0020088		Vaccine associated measles
OBO:HP_0020089	Post-vaccination rubella	biolink:OntologyClass	hp		Infection with the rubella virus of the live-attenuated vaccine.	http://purl.obolibrary.org/obo/HP_0020089		
OBO:HP_0020090	Post-vaccination polio	biolink:OntologyClass	hp		Infection with live attenuated polio vaccine following vaccination. This is an extreemely rare event that may indicate immunocompromise.	http://purl.obolibrary.org/obo/HP_0020090		
OBO:HP_0020091	Post-vaccination rotavirus infection	biolink:OntologyClass	hp		Infection with live attenuated rotavirus vaccine following vaccination.	http://purl.obolibrary.org/obo/HP_0020091		
OBO:HP_0020093	Recurrent deep organ abscess formation	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0020093		
OBO:HP_0020095	Prolonged need of intravenous antibiotic therapy	biolink:OntologyClass	hp		Clinical assessment of a requirement to treat with intravenous antibiotics over an unusually prolonged period of time.	http://purl.obolibrary.org/obo/HP_0020095		
OBO:HP_0020096	Recurrent streptococcal infections	biolink:OntologyClass	hp		Increased susceptibility to streptococcal infections, as manifested by recurrent episodes of streptococcal infections.	http://purl.obolibrary.org/obo/HP_0020096		
OBO:HP_0020097	Infection due to encapsulated bacteria	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0020097		
OBO:HP_0020098	Herpes encephalitis	biolink:OntologyClass	hp		Infection of the brain parenchyma with herpes simplex virus, resulting in inflammation of the brain parenchyma with neurologic dysfunction.	http://purl.obolibrary.org/obo/HP_0020098		
OBO:HP_0020099	Severe norovirus infection	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0020099		
OBO:HP_0020100	Unusual fungal infection	biolink:OntologyClass	hp		An unusual fungal infection that is regarded as a sign of a pathological susceptibility to infection by a fungal agent.	http://purl.obolibrary.org/obo/HP_0020100		
OBO:HP_0020101	Invasive fungal infection	biolink:OntologyClass	hp		Fungal infection characterized by invasion of host tissues.	http://purl.obolibrary.org/obo/HP_0020101		
OBO:HP_0020102	Pneumocystis jirovecii pneumonia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0020102		
OBO:HP_0020103	Invasive pulmonary aspergillosis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0020103		
OBO:HP_0020104	Unusual protozoan infection	biolink:OntologyClass	hp		An unusual protozoan infection that is regarded as a sign of a pathological susceptibility to infection by a protozoal agent.	http://purl.obolibrary.org/obo/HP_0020104		
OBO:HP_0020105	Severe toxoplasmosis	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0020105		
OBO:HP_0020106	Severe giardiasis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0020106		
OBO:HP_0020107	Unusual helminthic infection	biolink:OntologyClass	hp		An unusual helminthic infection that is regarded as a sign of a pathological susceptibility to infection by a worm (helminth).	http://purl.obolibrary.org/obo/HP_0020107		
OBO:HP_0020108	Unusual parasitic infection	biolink:OntologyClass	hp		An unusual parasitic infection that is regarded as a sign of a pathological susceptibility to infection by a parasite.	http://purl.obolibrary.org/obo/HP_0020108		
OBO:HP_0020110	Bone fracture	biolink:OntologyClass	hp		A partial or complete breakage of the continuity of a bone.	http://purl.obolibrary.org/obo/HP_0020110		
OBO:HP_0020111	Abnormal CD4+CD25+ regulatory T cell proportion	biolink:OntologyClass	hp		A deviation from the normal proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells.	http://purl.obolibrary.org/obo/HP_0020111		Abnormal CD4+CD25+ Treg cell proportion
OBO:HP_0020112	Increased proportion of CD4+CD25+ regulatory T cells	biolink:OntologyClass	hp		An abnormally increased proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells.	http://purl.obolibrary.org/obo/HP_0020112		Elevated proportion of CD4+CD25+ regulatory T cells|Increased proportion of CD4+CD25+ Treg cells
OBO:HP_0020113	Decreased proportion of CD4+CD25+ regulatory T cells	biolink:OntologyClass	hp		An abnormally decreased proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells.	http://purl.obolibrary.org/obo/HP_0020113		Decreased proportion of CD4+CD25+ Treg cells|Reduced proportion of CD4+CD25+ regulatory T cells
OBO:HP_0020114	Persistent human papillomavirus infection	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0020114		
OBO:HP_0020117	Hypoplastic dermoepidermal hemidesmosomes	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0020117		
OBO:HP_0020118	Radial artery aplasia	biolink:OntologyClass	hp		Congenital absence of the radial artery.	http://purl.obolibrary.org/obo/HP_0020118		
OBO:HP_0020119	Abnormal retinal nerve fiber layer morphology	biolink:OntologyClass	hp		A structural abnormality of the retinal nerve fiber layer	http://purl.obolibrary.org/obo/HP_0020119		Abnormal retinal nerve fibre layer morphology
OBO:HP_0020120	Retinal nerve fiber edema	biolink:OntologyClass	hp		Swelling (edema) of the retinal nerve fibers.	http://purl.obolibrary.org/obo/HP_0020120		Retinal nerve fibre oedema
OBO:HP_0020121	Conception by assisted reproductive technology	biolink:OntologyClass	hp		A history of conception by an assisted reproductive technology such as in vitro fertilization (IVF), intracytoplasmic sperm injection (ICSI), and cryopreservation.	http://purl.obolibrary.org/obo/HP_0020121		
OBO:HP_0020122	Bite cells	biolink:OntologyClass	hp		Red blood cells that appear to have parts of them bitten away.	http://purl.obolibrary.org/obo/HP_0020122		Blister cells|Degmacytes
OBO:HP_0020123	Tympanosclerosis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0020123		Tympanic calcification
OBO:HP_0020125	Spontaneous conjunctival filtering bleb	biolink:OntologyClass	hp		Avascular cystic elevations of the superior conjunctiva not related to ocular surgery or trauma.	http://purl.obolibrary.org/obo/HP_0020125		Conjunctival avascular cysts (filtering blebs)|Spontaneous filtering bleb
OBO:HP_0020126	Prostate mass	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0020126		
OBO:HP_0020127	Periarticular soft-tissue mass	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0020127		
OBO:HP_0020128	Aplasia of the olfactory tract	biolink:OntologyClass	hp		Aplasia (congenital absence) of the olfactory tract, which causes anosmia, a complete loss of the sense of smell.	http://purl.obolibrary.org/obo/HP_0020128		
OBO:HP_0020129	Abnormal urine protein level	biolink:OntologyClass	hp		Any deviation of the concentration of one or more proteins in the urine.	http://purl.obolibrary.org/obo/HP_0020129		
OBO:HP_0020130	Increased urinary neutrophil gelatinase-associated lipocalin	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0020130		Increased urinary NGAL
OBO:HP_0020131	Abnormal tubular basement membrane morphology	biolink:OntologyClass	hp		Abnormal structure of the basement membrane of the renal tubulus.	http://purl.obolibrary.org/obo/HP_0020131		
OBO:HP_0020132	Thickening of the tubular basement membrane	biolink:OntologyClass	hp		Increase in thickness of the basement membrane of the tubulus of the kidney.	http://purl.obolibrary.org/obo/HP_0020132		
OBO:HP_0020133	Podocyte hypertrophy	biolink:OntologyClass	hp		Increased visceral epithelial cell size, with or without cytoplasmic protein droplets.	http://purl.obolibrary.org/obo/HP_0020133		Glomerular visceral epithelial cell hypertrophy|Hypertrophy of visceral epithelial cells
OBO:HP_0020134	Increased urine neutrophil count	biolink:OntologyClass	hp		Abnormally increased count of neutrophils in urine.	http://purl.obolibrary.org/obo/HP_0020134		
OBO:HP_0020135	Myofibromatosis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0020135		
OBO:HP_0020136	Anticardiolipin IgG antibody positivity	biolink:OntologyClass	hp		The presence of circulating IgG autoantibodies to cardiolipin.	http://purl.obolibrary.org/obo/HP_0020136		
OBO:HP_0020137	Anticardiolipin IgM antibody positivity	biolink:OntologyClass	hp		The presence of circulating IgM autoantibodies to cardiolipin.	http://purl.obolibrary.org/obo/HP_0020137		
OBO:HP_0020138	History of recent animal bite	biolink:OntologyClass	hp		Medical history of a recent bite injury due to an animal.	http://purl.obolibrary.org/obo/HP_0020138		
OBO:HP_0020139	History of recent insect bite	biolink:OntologyClass	hp		Medical history of a recent bite injury due to an insect.	http://purl.obolibrary.org/obo/HP_0020139		
OBO:HP_0020140	History of recent tick bite	biolink:OntologyClass	hp		Medical history of a recent bite injury due to a tick.	http://purl.obolibrary.org/obo/HP_0020140		
OBO:HP_0020141	Blood pressure substantially higher in legs than arms	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0020141		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
OBO:HP_0020142	Blood pressure substantially higher in arms than legs	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0020142		Blood pressure substantially higher in upper than lower extremities|Increased arm-leg blood pressure gradient
OBO:HP_0020143	Tracheal duplication cyst	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0020143		
OBO:HP_0020144	Calcium phosphate crystalluria	biolink:OntologyClass	hp		The presence of calcium phosphate crystals in the urine.	http://purl.obolibrary.org/obo/HP_0020144		
OBO:HP_0020145	Calcium oxalate crystalluria	biolink:OntologyClass	hp		The presence of calcium oxalate crystals in the urine.	http://purl.obolibrary.org/obo/HP_0020145		
OBO:HP_0020146	Calcium carbonate crystalluria	biolink:OntologyClass	hp		The presence of calcium carbonate crystals in the urine.	http://purl.obolibrary.org/obo/HP_0020146		
OBO:HP_0020147	2-Methylbutyryl glycinuria	biolink:OntologyClass	hp		Increased concentration of 2-methylbutyryl glycine in the urine.	http://purl.obolibrary.org/obo/HP_0020147		
OBO:HP_0020148	Increased circulating mead acid level	biolink:OntologyClass	hp		An abnormally elevated concentration od mead acid in the blood circulation.	http://purl.obolibrary.org/obo/HP_0020148		
OBO:HP_0020149	Elevated circulating succinate	biolink:OntologyClass	hp		An increase concentration of succinate in the blood circulation.	http://purl.obolibrary.org/obo/HP_0020149		
OBO:HP_0020150	Elevated urinary uromodulin	biolink:OntologyClass	hp		An increased amount of uromodulin (also known as Tamm Horsfall protein) in the urine.	http://purl.obolibrary.org/obo/HP_0020150		Elevated urinary Tamm-Horsfall protein concentration
OBO:HP_0020151	Anti-dsDNA antibody positivity	biolink:OntologyClass	hp		The presence of autoantibodies (immunoglobulins) in the serum that react against double-stranded DNA.	http://purl.obolibrary.org/obo/HP_0020151		
OBO:HP_0020152	Distal joint laxity	biolink:OntologyClass	hp		Lack of stability of a distal joint (e.g., finger).	http://purl.obolibrary.org/obo/HP_0020152		
OBO:HP_0020153	Positive blood 1,3 beta glucan test	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0020153		
OBO:HP_0020154	Nevus comedonicus	biolink:OntologyClass	hp		A type of epidermal nevus characterized by closely arranged, dilated follicular openings with keratinous plugs resembling classical comedones.	http://purl.obolibrary.org/obo/HP_0020154		
OBO:HP_0020155	Abnormal oocyte morphology	biolink:OntologyClass	hp		An abnormal structure of the female germ cell (egg cell).	http://purl.obolibrary.org/obo/HP_0020155		
OBO:HP_0020156	Abnormal zona pellucida morphology	biolink:OntologyClass	hp		Abnormal structure of the oocyte extracellular matrix region known as teh zona pellucida.	http://purl.obolibrary.org/obo/HP_0020156		
OBO:HP_0020157	Thin zona pellucida	biolink:OntologyClass	hp		Reduced thickness of the zona pellucida.	http://purl.obolibrary.org/obo/HP_0020157		
OBO:HP_0020158	Increased circulating adrenic acid concentration	biolink:OntologyClass	hp		An increased concentration of adrenic acid (also known as cis-7,10,13,16-Docosatetraenoic acid) in the blood circulation.	http://purl.obolibrary.org/obo/HP_0020158		Increased circulating docosatetraenoate level
OBO:HP_0020159	Reduced response to gonadotropin-releasing hormone stimulation test	biolink:OntologyClass	hp		Failure of the gonadotropin-releasing hormone (GnRH) stimulation test to induce an appropriate increased in luteinizing hormone (LH), follicle-stimulating hormone (FSH) levels.	http://purl.obolibrary.org/obo/HP_0020159		Reduce response to GnRH stimulation test
OBO:HP_0020160	GM1-ganglioside accumulation	biolink:OntologyClass	hp		Cellular accumulation of GM1 gangliosides.	http://purl.obolibrary.org/obo/HP_0020160		
OBO:HP_0020161	Branch retinal artery occlusion	biolink:OntologyClass	hp		Blockage of a branch of the retinal artery. This can cause loss of a section of visual field.	http://purl.obolibrary.org/obo/HP_0020161		
OBO:HP_0020163	Cilioretinal artery occlusion	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0020163		
OBO:HP_0020164	Ophthalmic artery occlusion	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0020164		
OBO:HP_0020165	Branch retinal vein occlusion	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0020165		
OBO:HP_0020166	Central retinal vein occlusion	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0020166		
OBO:HP_0020167	Hemiretinal vein occlusion	biolink:OntologyClass	hp		A variant of central retinal vein occlusions that involves the superior or inferior half of the retina.	http://purl.obolibrary.org/obo/HP_0020167		
OBO:HP_0020169	Abnormal drug response	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0020169		
OBO:HP_0020170	Increased blood drug concentration	biolink:OntologyClass	hp		High plasma concentration of a drug as compared to previously measured thresholds given the expected concentration for the applied dosage regime.	http://purl.obolibrary.org/obo/HP_0020170		Elevated blood drug concentration|Elevated plasma drug concentration|Elevated serum drug concentrations|Increased plasma drug concentration|Increased serum drug concentration
OBO:HP_0020171	Decreased blood drug concentration	biolink:OntologyClass	hp		Low plasma concentration of a drug as compared to previously measured thresholds given the expected concentration for the applied dosage regime.	http://purl.obolibrary.org/obo/HP_0020171		Decreased plasma drug concentration|Decreased serum drug concentration|Reduced blood drug concentration|Reduced plasma drug concentration|Reduced serum drug concentrations
OBO:HP_0020172	Adverse drug response	biolink:OntologyClass	hp		An unpleasant or harmful reaction resulting from treatment with a drug.	http://purl.obolibrary.org/obo/HP_0020172		Adverse drug reaction|Drug-induced reaction|Drug-induced response|Toxic drug response
OBO:HP_0020173	Reduced drug efficacy	biolink:OntologyClass	hp		Decreased response to a drug intervention in comparison to the expected response.	http://purl.obolibrary.org/obo/HP_0020173		Decreased drug efficacy
OBO:HP_0020174	Refractory drug response	biolink:OntologyClass	hp		Absent or significantly reduced efficacy of drug intervention characterized by lack of measurable benefit or deterioration of disease course.	http://purl.obolibrary.org/obo/HP_0020174		Drug resistance
OBO:HP_0020175	Reduced cholinesterase level	biolink:OntologyClass	hp		A decreased amount of cholinesterase in the blood circulation.	http://purl.obolibrary.org/obo/HP_0020175		
OBO:HP_0020176	Cholesterol crystalluria	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0020176		
OBO:HP_0020177	Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0020177		Abnormal proportion of effector memory CD8-positive, alpha-beta T cells, terminally differentiated
OBO:HP_0020178	Abnormal dendritic cell count	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0020178		
OBO:HP_0020179	Abnormal haptoglobin level	biolink:OntologyClass	hp		A deviation from the normal concentration of haptoglobin in the blood circulation.	http://purl.obolibrary.org/obo/HP_0020179		
OBO:HP_0020180	Elevated haptoglobin level	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0020180		
OBO:HP_0020181	Reduced haptoglobin level	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0020181		
OBO:HP_0020182	Abnormal A-type atrial natriuretic peptide level	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0020182		
OBO:HP_0020183	Increased circulating A-type natriuretic peptide level	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0020183		
OBO:HP_0020184	Decreased circulating A-type natriuretic peptide level	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0020184		
OBO:HP_0020185	Superior cerebellar dysplasia	biolink:OntologyClass	hp		Abnormal morphological development of the superior part of the cerebellum.	http://purl.obolibrary.org/obo/HP_0020185		
OBO:HP_0020186	Multilobulated spleen	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0020186		Multi-lobulated spleen
OBO:HP_0020187	Thick pachygyria	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0020187		Pachygyria with cortical thickness > 10 mm|Pachygyria with cortical thickness above 10 mm
OBO:HP_0020188	Anterior predominant pachygyria with 5-10 mm cortical thickness	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0020188		
OBO:HP_0020189	Posterior predominant thick cortex pachygyria	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0020189		Occipital predomimant classic pachygyria|Pachygyria with cortical thickness over 10 mm posterior predominant
OBO:HP_0020190	Perisylvian predominant thick cortex pachygyria	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0020190		Pachygyria with cortical thickness > 10 mm perisylvian predominant
OBO:HP_0020191	Anterior predominant thick cortex pachygyria	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0020191		Pachygyria with cortical thickness > 10 mm anterior predominant
OBO:HP_0020192	Pachygyria with 5-10 mm cortical thickness	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0020192		
OBO:HP_0020193	Prolonged reptilase time	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0020193		
OBO:HP_0020194	IgA heavy chain paraproteinemia	biolink:OntologyClass	hp		An abnormal IgA heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells.	http://purl.obolibrary.org/obo/HP_0020194		Alpha heavy chain disease
OBO:HP_0020195	IgG heavy chain paraproteinemia	biolink:OntologyClass	hp		An abnormal IgG heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells.	http://purl.obolibrary.org/obo/HP_0020195		Gamma heavy-chain disease
OBO:HP_0020196	IgM heavy chain paraproteinemia	biolink:OntologyClass	hp		An abnormal IgM heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells.	http://purl.obolibrary.org/obo/HP_0020196		
OBO:HP_0020197	Increased circulating arachidonic acid concentration	biolink:OntologyClass	hp		An increased circulation of arachidonic acid in the blood circulation.	http://purl.obolibrary.org/obo/HP_0020197		Increased circulating arachidonate level|Increased circulating arachidonic acid level
OBO:HP_0020198	Abnormal circulating 18-hydroxycorticosterone level	biolink:OntologyClass	hp		Any deviation from the normal concentration of 18-Hydroxycorticosterone level in the blood circulation.	http://purl.obolibrary.org/obo/HP_0020198		
OBO:HP_0020199	Decreased circulating 18-hydroxycortisone level	biolink:OntologyClass	hp		A subnormal concentration of 18-Hydroxycorticosterone level in the blood circulation.	http://purl.obolibrary.org/obo/HP_0020199		
OBO:HP_0020200	Increased circulating 18-hydroxycortisone level	biolink:OntologyClass	hp		An abnormally elevated concentration of 18-Hydroxycorticosterone level in the blood circulation.	http://purl.obolibrary.org/obo/HP_0020200		
OBO:HP_0020201	Abnormal sarcomere morphology	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0020201		
OBO:HP_0020202	Abnormal Z disc morphology	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0020202		
OBO:HP_0020203	Z-band streaming	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0020203		
OBO:HP_0020204	Tubulointerstitial bacterial infiltration	biolink:OntologyClass	hp		Tubulointerstitial infiltration of bacteria identified on routine and/or special (Brown-Hopps) stains.	http://purl.obolibrary.org/obo/HP_0020204		Renal tubulointerstitial bacterial organisms
OBO:HP_0020205	Tubulointerstitial fungal infiltration	biolink:OntologyClass	hp		Tubulointerstitial infiltration of yeast or hyphal-microrganisms identified on routine and/or special (PAS, silver) stains.	http://purl.obolibrary.org/obo/HP_0020205		Renal tubulointerstitial fungal organisms
OBO:HP_0020206	Simple ear	biolink:OntologyClass	hp		The pinna has fewer folds and grooves than usual.	http://purl.obolibrary.org/obo/HP_0020206		
OBO:HP_0020207	Reflex seizure	biolink:OntologyClass	hp		Seizures precipitated by exogenous stimuli.	http://purl.obolibrary.org/obo/HP_0020207		
OBO:HP_0020208	Eating-induced seizure	biolink:OntologyClass	hp		A seizure precipitated by aspects of anticipating food, eating itself, or the post-prandial period.	http://purl.obolibrary.org/obo/HP_0020208		
OBO:HP_0020209	Hot water-induced seizure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0020209		
OBO:HP_0020210	Praxis-induced seizure	biolink:OntologyClass	hp		A seizure precipitated by complex, cognition-guided tasks often involving visuomotor coordination and decision-making.	http://purl.obolibrary.org/obo/HP_0020210		
OBO:HP_0020211	Proprioceptive-induced seizure	biolink:OntologyClass	hp		A seizure precipitated by movement or a change in posture.	http://purl.obolibrary.org/obo/HP_0020211		
OBO:HP_0020212	Reading-induced seizure	biolink:OntologyClass	hp		A seizure precipitated by reading.	http://purl.obolibrary.org/obo/HP_0020212		
OBO:HP_0020213	Somatosensory-induced seizure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0020213		
OBO:HP_0020214	Startle-induced seizure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0020214		
OBO:HP_0020215	Thinking-induced seizure	biolink:OntologyClass	hp		Seizures induced by thinking and decision-making. comment:	http://purl.obolibrary.org/obo/HP_0020215		Cognition induced seizure
OBO:HP_0020216	Visually-induced seizure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0020216		Photosensitive seizure
OBO:HP_0020217	Focal aware motor seizure	biolink:OntologyClass	hp		A type of focal motor seizure in which awareness is retained throughout the seizure.	http://purl.obolibrary.org/obo/HP_0020217		Focal motor aware seizure
OBO:HP_0020218	Focal aware atonic seizure	biolink:OntologyClass	hp		A type of focal atonic seizure during which awareness is fully retained throughout.	http://purl.obolibrary.org/obo/HP_0020218		
OBO:HP_0020219	Motor seizure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0020219		
OBO:HP_0020220	Focal atonic seizure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0020220		Localised atonic seizure|Localised hypotonic seizure|Localized atonic seizure|Localized hypotonic seizure|Partial atonic seizure|Partial hypotonic seizure|Segmental atonic seizure|Segmental hypotonic seizure
OBO:HP_0020221	Clonic seizure	biolink:OntologyClass	hp		A clonic seizure is a type of motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.	http://purl.obolibrary.org/obo/HP_0020221		
OBO:HP_0025004	Hallux rigidus	biolink:OntologyClass	hp	MSH:D020859|SNOMEDCT_US:6654000|UMLS:C0264134	Osteoarthritis of the metatarsophalangeal joint of the first toe.	http://purl.obolibrary.org/obo/HP_0025004		Arthritis of the big toe
OBO:HP_0025005	Thickening of glomerular capillary wall	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025005		
OBO:HP_0025006	Abnormal glomerular capillary morphology	biolink:OntologyClass	hp		A structural anomaly of the capillary blood vessels in the renal glomerulus.	http://purl.obolibrary.org/obo/HP_0025006		Abnormalities of the glomerular capillary wall
OBO:HP_0025007	Ectopic fovea	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025007		Ectopic macula
OBO:HP_0025008	Tracheal tug on inspiration	biolink:OntologyClass	hp		Downward movement of the trachea during inspiration due to downward traction on the tracheobronchial tree.	http://purl.obolibrary.org/obo/HP_0025008		
OBO:HP_0025009	Forward slanting upper incisors	biolink:OntologyClass	hp		The upper incisors deviate from the normal angle of being roughly parallel to the surface of the face and instead slant outwards.	http://purl.obolibrary.org/obo/HP_0025009		Forward directed upper incisors|Proclination of the upper incisors|Protruding upper incisors
OBO:HP_0025010	Foveal atrophy	biolink:OntologyClass	hp		Partial or complete loss of foveal tissue that was once present.	http://purl.obolibrary.org/obo/HP_0025010		
OBO:HP_0025011	Pyriform aperture stenosis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025011		
OBO:HP_0025012	Status cribrosum	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025012		
OBO:HP_0025013	Decerebrate rigidity	biolink:OntologyClass	hp		A type of rigidity that is manifested by an exaggerated extensor posture of all extremities.	http://purl.obolibrary.org/obo/HP_0025013		Decerebrate posturing
OBO:HP_0025014	Subcutaneous spheroids	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025014		
OBO:HP_0025015	Abnormal vascular morphology	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0025015		
OBO:HP_0025016	Abnormal capillary morphology	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025016		
OBO:HP_0025017	Capillary fragility	biolink:OntologyClass	hp		Reduced resistance to rupture of capillary blood vessels. Capillary fragility may manifest as a bleeding diathesis with spontaneous ecchymoses (bruises).	http://purl.obolibrary.org/obo/HP_0025017		
OBO:HP_0025018	Abnormal capillary physiology	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025018		
OBO:HP_0025019	Arterial rupture	biolink:OntologyClass	hp		Sudden breakage of an artery leading to leakage of blood from the circulation.	http://purl.obolibrary.org/obo/HP_0025019		
OBO:HP_0025020	Elevated prostate-specific antigen level	biolink:OntologyClass	hp		An increased concentration of prostate specific antigen (PSA) in the circulation.	http://purl.obolibrary.org/obo/HP_0025020		
OBO:HP_0025021	Abnormal erythrocyte sedimentation rate	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025021		Abnormal ESR|Abnormal Westergren sedimentation rate
OBO:HP_0025022	Decreased erythrocyte sedimentation rate	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025022		Decreased ESR|Low ESR
OBO:HP_0025023	Rectal atresia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025023		Atresia of the rectum
OBO:HP_0025024	Megarectum	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025024		
OBO:HP_0025025	Rectovestibular fistula	biolink:OntologyClass	hp		A congenital malformation characterized by an abnormal connection (fistula) between the rectum and the vulval vestibule, at the lower aspect of the vaginal opening.	http://purl.obolibrary.org/obo/HP_0025025		Vestibular fistula
OBO:HP_0025026	H-type rectovestibular fistula	biolink:OntologyClass	hp		Rectovestibular fistula with a normal anus is known as H-type fistula or double termination of the alimentary tract.	http://purl.obolibrary.org/obo/HP_0025026		
OBO:HP_0025027	Osteoma cutis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025027		Cutaneous osteosis|Miliary osteoma|Osteomatosis
OBO:HP_0025028	Abnormality of enteric nervous system morphology	biolink:OntologyClass	hp		A structural anomaly of nerves of the enteric nervous system.	http://purl.obolibrary.org/obo/HP_0025028		
OBO:HP_0025029	Abnormality of enteric neuron morphology	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0025029		
OBO:HP_0025030	Enteric neuronal degeneration	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025030		Degenerative enteric neuropathy
OBO:HP_0025031	Abnormality of the digestive system	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0025031		
OBO:HP_0025032	Abnormality of digestive system physiology	biolink:OntologyClass	hp		A functional anomaly of the digestive system.	http://purl.obolibrary.org/obo/HP_0025032		
OBO:HP_0025033	Abnormality of digestive system morphology	biolink:OntologyClass	hp		A structural anomaly of the digestive system.	http://purl.obolibrary.org/obo/HP_0025033		
OBO:HP_0025034	Abnormal morphology of erythroid progenitor cell	biolink:OntologyClass	hp		Abnormal form of the progenitor cells committed to the erythroid lineage.	http://purl.obolibrary.org/obo/HP_0025034		
OBO:HP_0025035	Abnormal proerythroblast morphology	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025035		
OBO:HP_0025037	Hypothalamic gliosis	biolink:OntologyClass	hp		Focal proliferation of glial cells in the hypothalamus.	http://purl.obolibrary.org/obo/HP_0025037		
OBO:HP_0025038	Intratesticular abscess	biolink:OntologyClass	hp		A collection of pus within a testicle. Ultrasonographic features include shaggy, irregular walls, intratesticular location, low-level internal echoes, and occasionally, hypervascular margins.	http://purl.obolibrary.org/obo/HP_0025038		Testicular abscess
OBO:HP_0025039	Basal ganglia edema	biolink:OntologyClass	hp		Swelling within the basal ganglia due to the accumulation of fluid.	http://purl.obolibrary.org/obo/HP_0025039		Basal ganglia oedema|Edema of the basal ganglia|Oedema of the basal ganglia
OBO:HP_0025040	Thalamic edema	biolink:OntologyClass	hp		Swelling within the thalamus due to the accumulation of fluid.	http://purl.obolibrary.org/obo/HP_0025040		Edema of the thalamus|Oedema of the thalamus|Thalamic oedema
OBO:HP_0025041	Thalamic calcification	biolink:OntologyClass	hp		Calcium deposition in the thalamus.	http://purl.obolibrary.org/obo/HP_0025041		
OBO:HP_0025042	Abnormality of mesenteric lymph nodes	biolink:OntologyClass	hp		A morphological anomaly of lymph nodes in the mesenteric root or throughout the mesentery.	http://purl.obolibrary.org/obo/HP_0025042		
OBO:HP_0025043	Enlarged mesenteric lymph node	biolink:OntologyClass	hp		Increase in size of one or more mesenteric lymph nodes.	http://purl.obolibrary.org/obo/HP_0025043		
OBO:HP_0025044	Lung abscess	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025044		
OBO:HP_0025045	Abnormal brain lactate level by MRS	biolink:OntologyClass	hp		A deviation from normal of the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS).	http://purl.obolibrary.org/obo/HP_0025045		Abnormal lactate level by magnetic resonance spectroscopy
OBO:HP_0025046	Reduced brain lactate level by MRS	biolink:OntologyClass	hp		A decrease in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS).	http://purl.obolibrary.org/obo/HP_0025046		Reduced brain lactate level by magnetic resonance spectroscopy
OBO:HP_0025047	Abnormal brain choline level by MRS	biolink:OntologyClass	hp		A deviation from normal in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS).	http://purl.obolibrary.org/obo/HP_0025047		Abnormal brain choline level by magnetic resonance spectroscopy
OBO:HP_0025048	Reduced brain choline level by MRS	biolink:OntologyClass	hp		An decrease in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS).	http://purl.obolibrary.org/obo/HP_0025048		Reduced brain choline level by magnetic resonance spectroscopy
OBO:HP_0025049	Abnormal brain creatine level by MRS	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0025049		Abnormal brain creatine level by magnetic resonance spectroscopy
OBO:HP_0025050	Elevated brain creatine level by MRS	biolink:OntologyClass	hp		An increase in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS).	http://purl.obolibrary.org/obo/HP_0025050		Elevated brain creatine level by magnetic resonance spectroscopy
OBO:HP_0025051	Reduced brain creatine level by MRS	biolink:OntologyClass	hp		A decrease in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS).	http://purl.obolibrary.org/obo/HP_0025051		Low brain creatine phosphate|Reduced brain creatine level by magnetic resonance spectroscopy
OBO:HP_0025052	Abnormal brain N-acetyl aspartate level by MRS	biolink:OntologyClass	hp		A deviation from normal in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS).	http://purl.obolibrary.org/obo/HP_0025052		Abnormal brain N-acetyl aspartate level by magnetic resonance spectroscopy
OBO:HP_0025053	Elevated brain N-acetyl aspartate level by MRS	biolink:OntologyClass	hp		An increase in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS).	http://purl.obolibrary.org/obo/HP_0025053		Elevated brain N-acetyl aspartate level by magnetic resonance spectroscopy
OBO:HP_0025057	Abnormality of olfactory lobe morphology	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025057		
OBO:HP_0025058	Hypothalamic atrophy	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0025058		Atrophy of the hypothalamus|Partial or complete wasting (loss) of hypothalamus tissue that was once present.
OBO:HP_0025059	Splenic abscess	biolink:OntologyClass	hp		A circumscribed area of pus or necrotic debris in the parenchyma of the spleen.	http://purl.obolibrary.org/obo/HP_0025059		
OBO:HP_0025060	Multifocal splenic abscess	biolink:OntologyClass	hp		Multiple abscess lesions in the spleen.	http://purl.obolibrary.org/obo/HP_0025060		Multilocular splenic abscess
OBO:HP_0025061	Unifocal splenic abscess	biolink:OntologyClass	hp		Single (solitary) abscess in the spleen.	http://purl.obolibrary.org/obo/HP_0025061		Solitary splenic abscess|Unilocular splenic abscess
OBO:HP_0025062	Geophagia	biolink:OntologyClass	hp		The practice of eating earth or soil-like substrates such as clay or chalk.	http://purl.obolibrary.org/obo/HP_0025062		Geophagy
OBO:HP_0025063	Scaphoid abdomen	biolink:OntologyClass	hp		The anterior abdominal wall is sunken and presents a concave rather than a convex contour.	http://purl.obolibrary.org/obo/HP_0025063		
OBO:HP_0025064	Thalamic hemorrhage	biolink:OntologyClass	hp		Bleeding in the thalamus.	http://purl.obolibrary.org/obo/HP_0025064		Thalamic haemorrhage
OBO:HP_0025065	Abnormal mean corpuscular volume	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025065		Abnormal MCV|Abnormal erythrocyte volume
OBO:HP_0025066	Decreased mean corpuscular volume	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0025066		Decreased MCV|Microcytosis|Reduced erythrocyte volume
OBO:HP_0025068	Incomitant strabismus	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025068		
OBO:HP_0025069	Concomitant strabismus	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025069		Comitant strabismus
OBO:HP_0025070	Abnormal U wave	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025070		
OBO:HP_0025071	U wave inversion	biolink:OntologyClass	hp		Direction of the U wave opposite to the T wave (i.e., below baseline) in leads with upright T waves.	http://purl.obolibrary.org/obo/HP_0025071		
OBO:HP_0025072	Prominent U wave	biolink:OntologyClass	hp		Increased amplitude of the U wave, defined as an amplitude grerater than 1-2mm or 25 percent of the height of the T wave.	http://purl.obolibrary.org/obo/HP_0025072		Increased U wave amplitude
OBO:HP_0025073	Exercise-induced U wave inversion	biolink:OntologyClass	hp		U wave inversion that is induced by exercise stress testing.	http://purl.obolibrary.org/obo/HP_0025073		
OBO:HP_0025074	Abnormal QRS complex	biolink:OntologyClass	hp		An anomaly of the complex formed by the Q, R, and S waves, which occur in rapid succession on the electrocardiogram.	http://purl.obolibrary.org/obo/HP_0025074		
OBO:HP_0025075	Increased QRS voltage	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0025075		
OBO:HP_0025076	Abnormal QRS voltage	biolink:OntologyClass	hp		Abnormal amplitude of the QRS complex of the electrocardiogram (EKG).	http://purl.obolibrary.org/obo/HP_0025076		
OBO:HP_0025077	Decreased QRS voltage	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025077		
OBO:HP_0025078	Electrical alternans	biolink:OntologyClass	hp		The QRS complexes of the electrocardiogram alternate in height.	http://purl.obolibrary.org/obo/HP_0025078		
OBO:HP_0025079	Pancreatic abscess	biolink:OntologyClass	hp		A circumscribed area of pus or necrotic debris in the parenchyma of the pancreas.	http://purl.obolibrary.org/obo/HP_0025079		Pancreas abscess
OBO:HP_0025080	Orthokeratotic hyperkeratosis	biolink:OntologyClass	hp		A form of hyperkeratosis characterized by thickening of the cornified layer without retained nuclei.	http://purl.obolibrary.org/obo/HP_0025080		
OBO:HP_0025081	Darier's sign	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025081		
OBO:HP_0025082	Abnormal cutaneous elastic fiber morphology	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025082		Abnormal cutaneous elastic fibre morphology
OBO:HP_0025083	Elevated dermal desmosine content	biolink:OntologyClass	hp		An increased amount of desmosine measure in the skin. Desmosine is a cross-linking amino acid formed from lysyl residues in elastin.	http://purl.obolibrary.org/obo/HP_0025083		
OBO:HP_0025084	Folliculitis	biolink:OntologyClass	hp		Inflammatory cells within the wall and ostia of the hair follicle, creating a follicular-based pustule.	http://purl.obolibrary.org/obo/HP_0025084		Follicular pustule
OBO:HP_0025085	Bloody diarrhea	biolink:OntologyClass	hp		Passage of many stools containing blood.	http://purl.obolibrary.org/obo/HP_0025085		Blood in stool|Bloody stool|Bloody bowel movement|Bloody diarrhea|Bloody diarrhoea
OBO:HP_0025086	Bloody mucoid diarrhea	biolink:OntologyClass	hp		Passage of many stools containing blood and mucus.	http://purl.obolibrary.org/obo/HP_0025086		Bloody mucoid diarrhoea
OBO:HP_0025087	Delayed recoil upon stretching of skin	biolink:OntologyClass	hp		Area of skin requiring an increased amount of time to return to its original shape after being stretched.	http://purl.obolibrary.org/obo/HP_0025087		
OBO:HP_0025088	Onychomadesis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025088		
OBO:HP_0025089	Feculent vomiting	biolink:OntologyClass	hp		Vomiting of material that is of fecal origin.	http://purl.obolibrary.org/obo/HP_0025089		Fecal vomiting|Stercoraceous vomiting|Vomiting fecal matter
OBO:HP_0025090	Abnormal large intestinal mucosa morphology	biolink:OntologyClass	hp		A structural anomaly of the mucous lining of the large intestine.	http://purl.obolibrary.org/obo/HP_0025090		
OBO:HP_0025092	Epidermal acanthosis	biolink:OntologyClass	hp		Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).	http://purl.obolibrary.org/obo/HP_0025092		Thickening of upper layer of skin|Acanthosis|Acanthotic epidermis
OBO:HP_0025093	Peripapillary exudate	biolink:OntologyClass	hp		A retinal exudate in the area surrounding the optic nerve head.	http://purl.obolibrary.org/obo/HP_0025093		Peripapillary exudation
OBO:HP_0025094	Disciform macular scar	biolink:OntologyClass	hp		A subretinal scar with a disc-like shape in the region of the macula.	http://purl.obolibrary.org/obo/HP_0025094		
OBO:HP_0025095	Sneeze	biolink:OntologyClass	hp		A sudden violent, spasmodic, audible expiration of breath through the nose and mouth.	http://purl.obolibrary.org/obo/HP_0025095		
OBO:HP_0025096	Paroxysmal sneezing	biolink:OntologyClass	hp		Unprovoked explosive pathological sneezing.	http://purl.obolibrary.org/obo/HP_0025096		
OBO:HP_0025097	Eyelid myoclonus	biolink:OntologyClass	hp		Marked, involuntary jerking of the eyelids.	http://purl.obolibrary.org/obo/HP_0025097		Blepharoclonus|Eyelid myoclonia
OBO:HP_0025098	Dysgenesis of the hypothalamus	biolink:OntologyClass	hp		Structural abnormality of the hypothalamus related to defective development.	http://purl.obolibrary.org/obo/HP_0025098		Hypothalamic dysgenesis
OBO:HP_0025099	Dysgenesis of the thalamus	biolink:OntologyClass	hp		Structural abnormality of the thalamus related to defective development.	http://purl.obolibrary.org/obo/HP_0025099		Thalamic dysgenesis
OBO:HP_0025100	Abnormal hippocampus morphology	biolink:OntologyClass	hp		Any structural anomaly of the hippocampus,	http://purl.obolibrary.org/obo/HP_0025100		Abnormal morphology of the hippocampus|Abnormality of hippocampus morphology
OBO:HP_0025101	Dysgenesis of the hippocampus	biolink:OntologyClass	hp		Structural abnormality of the hippocampus related to defective development.	http://purl.obolibrary.org/obo/HP_0025101		Hippocampal dysgenesis
OBO:HP_0025102	Dysgenesis of the basal ganglia	biolink:OntologyClass	hp		Structural abnormality of the basal ganglia related to defective development.	http://purl.obolibrary.org/obo/HP_0025102		Basal ganglia dysgenesis
OBO:HP_0025103	Umbilicated nodule	biolink:OntologyClass	hp		A type of skin nodule that has a small depression that resembles a navel (i.e., is umbilicated).	http://purl.obolibrary.org/obo/HP_0025103		
OBO:HP_0025104	Capillary malformation	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0025104		
OBO:HP_0025105	Nevus anemicus	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025105		Naevus anaemicus
OBO:HP_0025106	Nevus roseus	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025106		
OBO:HP_0025107	Cutis marmorata telangiectatica congenita	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025107		
OBO:HP_0025108	Angioma serpentinum	biolink:OntologyClass	hp		Angioma serpiginosum consists of punctate, tightly packed telangiectatic lesions. Characteristic histopathological features are dilated and tortuous capillaries involving the uppermost part of the dermis.	http://purl.obolibrary.org/obo/HP_0025108		
OBO:HP_0025109	Reduced red cell pyruvate kinase level	biolink:OntologyClass	hp		Decrease in the level of pyruvate kinase (PK) within erythrocytes. PK catalyzes the reaction: ATP + pyruvate = ADP + phosphoenolpyruvate.	http://purl.obolibrary.org/obo/HP_0025109		Reduced erythrocyte pyruvate kinase activity
OBO:HP_0025110	Placoid macular lesion	biolink:OntologyClass	hp		Yellow/white, sharply delineated lesion, typically of inflammatory nature, involving the macula.	http://purl.obolibrary.org/obo/HP_0025110		
OBO:HP_0025112	Sound sensitivity	biolink:OntologyClass	hp		Decreased tolerance to sound.	http://purl.obolibrary.org/obo/HP_0025112		Noise sensitivity
OBO:HP_0025113	Misophonia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025113		
OBO:HP_0025114	Hypergranulosis	biolink:OntologyClass	hp		Hypergranulosis is an increased thickness of the stratum granulosum.	http://purl.obolibrary.org/obo/HP_0025114		
OBO:HP_0025115	Civatte bodies	biolink:OntologyClass	hp		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	http://purl.obolibrary.org/obo/HP_0025115		Colloid bodies|Colloid bodies of Civatte|Cytoid bodies|Hyaline bodies
OBO:HP_0025116	Fetal distress	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025116		Foetal distress
OBO:HP_0025117	Rete ridge flattening	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025117		Flattened rete pegs|Flattened rete ridges
OBO:HP_0025118	Lip discoloration	biolink:OntologyClass	hp		Lightening or darkening of the lips from their usual coloring.	http://purl.obolibrary.org/obo/HP_0025118		
OBO:HP_0025119	Violet lip discoloration	biolink:OntologyClass	hp		An alteration of the color of the lip to take on a violet color. This term does not include cyanosis.	http://purl.obolibrary.org/obo/HP_0025119		
OBO:HP_0025121	obsolete Simple partial occipital seizures	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0025121		
OBO:HP_0025122	Sawtooth acanthosis	biolink:OntologyClass	hp		A type of epidermal acanthosis characterized by a jagged (sawtooth) appearance of the rete ridges of the epidermis.	http://purl.obolibrary.org/obo/HP_0025122		Sawtoothed acanthosis
OBO:HP_0025123	White streaks/specks on enamel.	biolink:OntologyClass	hp		Areas of white discoloration visible on the surface of the teeth (enamel) in the form of streaks or specks.	http://purl.obolibrary.org/obo/HP_0025123		
OBO:HP_0025124	Fragile teeth	biolink:OntologyClass	hp		A tendency of teeth to fracture as manifested by a history of repeated fracture of the dental enamel without adequate trauma.	http://purl.obolibrary.org/obo/HP_0025124		Enamel with tendency to chip|Spontaneous tooth fracture
OBO:HP_0025125	White lesion of the oral mucosa	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025125		
OBO:HP_0025126	Oral hairy leukoplakia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025126		
OBO:HP_0025127	Actinic keratosis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025127		Solar keratosis
OBO:HP_0025128	Reduced intraabdominal adipose tissue	biolink:OntologyClass	hp		An abnormally reduced amount of adipose tissue in the abdominal cavity.	http://purl.obolibrary.org/obo/HP_0025128		
OBO:HP_0025129	Abnormal small intestinal mucosa morphology	biolink:OntologyClass	hp		A structural anomaly of the mucous lining of the small intestine.	http://purl.obolibrary.org/obo/HP_0025129		
OBO:HP_0025130	Decreased small intestinal mucosa lactase level	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025130		Lactase deficiency
OBO:HP_0025131	Finger swelling	biolink:OntologyClass	hp		Enlargement of the soft tissues of one or more fingers.	http://purl.obolibrary.org/obo/HP_0025131		Swelling of fingers|Swollen finger|Swollen fingers
OBO:HP_0025132	Abnormal circulating estrogen level	biolink:OntologyClass	hp		A deviation from normal concentration of the hormone estrogen in the blood circulation.	http://purl.obolibrary.org/obo/HP_0025132		Abnormal circulating oestrogen level|Abnormal estrogen level
OBO:HP_0025133	Abnormal serum estradiol	biolink:OntologyClass	hp		A deviation from normal concentrations of estradiol in the circulation.	http://purl.obolibrary.org/obo/HP_0025133		
OBO:HP_0025134	Increased serum estradiol	biolink:OntologyClass	hp		An elevation above normal limits of the concentration of estradiol in the circulation.	http://purl.obolibrary.org/obo/HP_0025134		Increased estradiol level|Increased serum oestradiol
OBO:HP_0025135	Abnormal serum estriol	biolink:OntologyClass	hp		A deviation from normal concentration of estriol in the circulation.	http://purl.obolibrary.org/obo/HP_0025135		
OBO:HP_0025136	Increased serum estriol	biolink:OntologyClass	hp		An elevation above normal limits of estriol concentration in the circulation.	http://purl.obolibrary.org/obo/HP_0025136		
OBO:HP_0025137	Decreased serum estriol	biolink:OntologyClass	hp		A reduction below normal limits of estriol in the circulation.	http://purl.obolibrary.org/obo/HP_0025137		
OBO:HP_0025138	Abnormal serum estrone	biolink:OntologyClass	hp		A deviation from the normal concentration of circulating estrone.	http://purl.obolibrary.org/obo/HP_0025138		
OBO:HP_0025139	Increased serum estrone	biolink:OntologyClass	hp		An elevation above normal limits of the concentration of estrone in the circulation.	http://purl.obolibrary.org/obo/HP_0025139		
OBO:HP_0025140	Decreased serum estrone	biolink:OntologyClass	hp		A reduction below normal limits of the concentration of estrone in the circulation.	http://purl.obolibrary.org/obo/HP_0025140		
OBO:HP_0025141	Gingival calcification	biolink:OntologyClass	hp		Ectopic deposition of calcium salts found in the gingiva.	http://purl.obolibrary.org/obo/HP_0025141		Gingival calcifications
OBO:HP_0025142	Constitutional symptom	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025142		
OBO:HP_0025143	Chills	biolink:OntologyClass	hp		A sudden sensation of feeling cold.	http://purl.obolibrary.org/obo/HP_0025143		Chills
OBO:HP_0025144	Shivering	biolink:OntologyClass	hp		Involuntary contraction or twitching of the muscles.	http://purl.obolibrary.org/obo/HP_0025144		Shivering|Shuddering
OBO:HP_0025145	Rigors	biolink:OntologyClass	hp		Severe chills with violent shivering. A rigor is an episode of shaking or exaggerated shivering which can occur with a high fever.	http://purl.obolibrary.org/obo/HP_0025145		Rigours
OBO:HP_0025146	Foveal degeneration	biolink:OntologyClass	hp		Deterioration of the tissue of the fovea, i.e.,the region of sharpest vision within the macula of the retina.	http://purl.obolibrary.org/obo/HP_0025146		
OBO:HP_0025147	Beaten bronze macular sheen	biolink:OntologyClass	hp		A shiny appearance of the macula, which is often called a beaten bronze appearance.	http://purl.obolibrary.org/obo/HP_0025147		Beaten metal macular appearance|Beaten-bronze macular appearance|Beaten-bronze macular sheen
OBO:HP_0025148	Dark choroid	biolink:OntologyClass	hp		A fluorescein angiographic finding of absence of the normal background fluorescence (a dark choroid).	http://purl.obolibrary.org/obo/HP_0025148		
OBO:HP_0025149	Atrophic muscularis propria	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025149		Autonomic visceral myopathy|Degenerative enteric myopathy
OBO:HP_0025150	Hypoganglionosis	biolink:OntologyClass	hp		Sparse and small myenteric ganglia	http://purl.obolibrary.org/obo/HP_0025150		
OBO:HP_0025151	Ganglioneuromatosis	biolink:OntologyClass	hp		Hyperplastic submucosal and myenteric plexus containing an increased number of ganglion cells, glial cells and nerve fibers.	http://purl.obolibrary.org/obo/HP_0025151		
OBO:HP_0025152	Poor visual behavior for age	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025152		Abnormal visual behavior for age|Abnormal visual behaviour for age|Poor visual behaviour for age
OBO:HP_0025153	Transient	biolink:OntologyClass	hp		Short-lived and not permanent. This term applies to a phenotypic abnormality that is temporary and of short duration.	http://purl.obolibrary.org/obo/HP_0025153		
OBO:HP_0025154	Portosystemic collateral veins	biolink:OntologyClass	hp		Presence of biliary veins that serve as a collateral channel to the systemic circulation	http://purl.obolibrary.org/obo/HP_0025154		Collateral biliary circulation|Collateral biliary veins
OBO:HP_0025155	Abnormality of hepatobiliary system physiology	biolink:OntologyClass	hp		A functional anomaly of the hepatobiliary system	http://purl.obolibrary.org/obo/HP_0025155		
OBO:HP_0025156	Dependency on intravenous nutrition	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025156		Dependency on IV nutrition
OBO:HP_0025157	Increased urinary sedoheptulose	biolink:OntologyClass	hp		An increased concentration of sedoheptulose in the urine. Sedoheptulose is a monosaccharide with seven carbon atoms and a ketone functional group.	http://purl.obolibrary.org/obo/HP_0025157		
OBO:HP_0025158	Hyperautofluorescent retinal lesion	biolink:OntologyClass	hp		Increased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging.	http://purl.obolibrary.org/obo/HP_0025158		
OBO:HP_0025159	Hypoautofluorescent retinal lesion	biolink:OntologyClass	hp		Decreased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging.	http://purl.obolibrary.org/obo/HP_0025159		Hypo-autofluorescent retinal lesion
OBO:HP_0025160	Abnormal temper tantrums	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025160		
OBO:HP_0025161	Frequent temper tantrums	biolink:OntologyClass	hp		Temper tantrums that occur more frequently than usual.	http://purl.obolibrary.org/obo/HP_0025161		
OBO:HP_0025162	Severe temper tantrums	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025162		
OBO:HP_0025163	Abnormality of optic chiasm morphology	biolink:OntologyClass	hp		A structural abnormality of the optic chiasm.The optic chiasm, located below the hypothalamus, is a partial crossing of the optic nerves.	http://purl.obolibrary.org/obo/HP_0025163		
OBO:HP_0025164	Increased number of elastic fibers in the dermis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025164		Increased number of elastic fibres in the dermis
OBO:HP_0025165	Clumping of elastic fibers in the dermis	biolink:OntologyClass	hp		Formation of clumps or aggregates that make up small protuberances from elastic fibers within the dermis (especially the reticular dermis).	http://purl.obolibrary.org/obo/HP_0025165		Clumping of elastic fibres in the dermis
OBO:HP_0025166	Thickened elastic fibers in the dermis	biolink:OntologyClass	hp		An increase of the diameter of elastic fibers in the dermis.	http://purl.obolibrary.org/obo/HP_0025166		Thickened elastic fibres in the dermis
OBO:HP_0025167	Fragmented elastic fibers in the dermis	biolink:OntologyClass	hp		Elastic fibers in the dermis exhibit an increased number of breaks associated with disorganization of the structure of the elastic fibers.	http://purl.obolibrary.org/obo/HP_0025167		Fragmented elastic fibres in the dermis
OBO:HP_0025168	Left ventricular diastolic dysfunction	biolink:OntologyClass	hp		Abnormal function of the left ventricule during left ventricular relaxation and filling.	http://purl.obolibrary.org/obo/HP_0025168		
OBO:HP_0025169	Left ventricular systolic dysfunction	biolink:OntologyClass	hp		Abnormality of left ventricular contraction, often defined operationally as an ejection fraction of less than 40 percent.	http://purl.obolibrary.org/obo/HP_0025169		
OBO:HP_0025170	Neuronal/glioneuronal neoplasm of the central nervous system	biolink:OntologyClass	hp		A central nervous system neoplasm with neuronal and, less consistently, glial differentiation.	http://purl.obolibrary.org/obo/HP_0025170		Neuronal/glioneuronal neoplasm of the CNS|Glioneuronal tumor|Neuronal and mixed neuronal-glial tumor
OBO:HP_0025171	Rosette-forming glioneuronal tumor	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025171		Rosette-forming glioneuronal neoplasm|Rosette-forming glioneuronal tumour|Rosette-forming glioneuronal tumor of the fourth ventricle
OBO:HP_0025172	Smooth septal thickening on pulmonary HRCT	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025172		
OBO:HP_0025173	Nodular septal thickening on pulmonary HRCT	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025173		
OBO:HP_0025174	Irregular septal thickening on pulmonary HRCT	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025174		
OBO:HP_0025175	Honeycomb lung	biolink:OntologyClass	hp		Extensive interstitial fibrosis with alveolar disruption and bronchiolectasis.	http://purl.obolibrary.org/obo/HP_0025175		
OBO:HP_0025176	Intralobular interstitial thickening	biolink:OntologyClass	hp		A fine reticular pattern on high-resolution computeed tomography, with the visible lines separated by a few millimeters. Regions of the lung with intralobular interstitial thickening characteristically show a fine lacelike or netlike appearance.	http://purl.obolibrary.org/obo/HP_0025176		
OBO:HP_0025177	Peribronchovascular interstitial thickening	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025177		
OBO:HP_0025178	Subpleural interstitial thickening	biolink:OntologyClass	hp		Increase in thickness of the subpleural interstitium.	http://purl.obolibrary.org/obo/HP_0025178		Subpleural scarring
OBO:HP_0025179	Ground-glass opacification on pulmonary HRCT	biolink:OntologyClass	hp		A descriptive term that is applied to computer tomography imaging and that refers to a hazy area of increased attenuation in the lung with preserved bronchial and vascular markings.	http://purl.obolibrary.org/obo/HP_0025179		
OBO:HP_0025180	Centrilobular ground-glass opacification on pulmonary HRCT	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025180		Centrilobular groundglass opacification|Centrilobular groundglass opacity
OBO:HP_0025181	Abdominal aseptic abscess	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025181		
OBO:HP_0025182	Localized area of pendulous skin	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025182		Localised area of pendulous skin
OBO:HP_0025186	Marcus Gunn jaw winking synkinesis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025186		Marcus Gunn jaw-winking syndrome|Pterygoid-levator synkinesis|Trigemino-oculomotor synkinesis
OBO:HP_0025188	Retinal vasculitis	biolink:OntologyClass	hp		Inflammation of retinal blood vessels as manifested by perivascular sheathing or cuffing, vascular leakage and/or occlusion.	http://purl.obolibrary.org/obo/HP_0025188		
OBO:HP_0025190	Bilateral tonic-clonic seizure with generalized onset	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025190		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
OBO:HP_0025191	obsolete Segmental myoclonic seizures	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0025191		
OBO:HP_0025192	Subtentorial periventricular white matter hyperdensity	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0025192		
OBO:HP_0025193	Posterolateral diaphragmatic hernia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025193		Bochdalek hernia
OBO:HP_0025194	Morgagni diaphragmatic hernia	biolink:OntologyClass	hp		An anterior retrosternal or parasternal hernia that can result in the herniation of liver or intestines into the chest cavity.	http://purl.obolibrary.org/obo/HP_0025194		Morgagni hernia
OBO:HP_0025195	Central diaphragmatic hernia	biolink:OntologyClass	hp		A congenital diaphragm defect involving the central tendinous (e.g., amuscular) portion of the diaphragm, whereby the entire rim of diaphragmatic musculature is present.	http://purl.obolibrary.org/obo/HP_0025195		Central hernia
OBO:HP_0025196	Increased total iron binding capacity	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025196		
OBO:HP_0025197	Inclusion body fibromatosis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025197		Digital fibrous tumor of Reye|Infantile digital fibroma|Infantile digital fibromatosis
OBO:HP_0025198	Inflammatory cap polyp	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025198		
OBO:HP_0025200	Muscle fiber actin filament accumulation	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0025200		Muscle fibre actin filament accumulation|Accumulation in muscle cells of filaments composed of actin.
OBO:HP_0025201	Abnormal circulating apolipoprotein concentration	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025201		Abnormal apolipoprotein level
OBO:HP_0025202	Elevated circulating apolipoprotein A-IV concentration	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025202		Elevated apolipoprotein A-IV level
OBO:HP_0025203	Caput medusae	biolink:OntologyClass	hp		Distended and engorged umbilical veins which are seen radiating from the umbilicus across the abdomen to join systemic veins.	http://purl.obolibrary.org/obo/HP_0025203		Palm tree sign
OBO:HP_0025204	Triggered by	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025204		
OBO:HP_0025205	Triggered by breast feeding	biolink:OntologyClass	hp		Applies to a sign or symptom that is provoked or brought about by breast feeding in an infant.	http://purl.obolibrary.org/obo/HP_0025205		Triggered by breastfeeding|Breastfeeding triggered symptoms
OBO:HP_0025206	Triggered by cold	biolink:OntologyClass	hp		Applies to a sign or symptom that is provoked or brought about by exposure to cold surroundings.	http://purl.obolibrary.org/obo/HP_0025206		Triggered by cold temperature|Cold triggered symptoms
OBO:HP_0025207	Triggered by dehydration	biolink:OntologyClass	hp		Applies to a sign or symptom that is provoked or brought about by being dehydrated, i.e., by a deficit in total body water.	http://purl.obolibrary.org/obo/HP_0025207		Triggered by dehydration|Dehydration triggered symptoms
OBO:HP_0025208	Triggered by carbohydrate ingestion	biolink:OntologyClass	hp		Applies to a sign or symptom that is provoked or brought about by eating or drinking carbohydrates.	http://purl.obolibrary.org/obo/HP_0025208		Triggered by carbohydrate ingestion|Carbohydrate ingestion triggered symptoms
OBO:HP_0025209	Triggered by fructose ingestion	biolink:OntologyClass	hp		Applies to a sign or symptom that is provoked or brought about by eating or drinking fructose.	http://purl.obolibrary.org/obo/HP_0025209		Trigged by fruit sugar
OBO:HP_0025210	Triggered by glucose ingestion	biolink:OntologyClass	hp		Applies to a sign or symptom that is provoked or brought about by eating or drinking glucose.	http://purl.obolibrary.org/obo/HP_0025210		
OBO:HP_0025211	Triggered by ethanol ingestion	biolink:OntologyClass	hp		Applies to a sign or symptom that is provoked or brought about by drinking or otherwise ingesting ethanol.	http://purl.obolibrary.org/obo/HP_0025211		Triggered by alcohol ingestion|Ethanol ingestion triggered symptoms
OBO:HP_0025212	Triggered by fasting	biolink:OntologyClass	hp		Applies to a sign or symptom that is provoked or brought about by abstaining from eating food (fasting).	http://purl.obolibrary.org/obo/HP_0025212		Triggered by fasting|Fasting triggered attacks|Fasting triggered symptoms
OBO:HP_0025213	Triggered by galactose ingestion	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025213		Triggered by ingestion of lactose-containing milk
OBO:HP_0025214	Triggered by heat	biolink:OntologyClass	hp		Applies to a sign or symptom that is provoked or brought about by exposure to heat.	http://purl.obolibrary.org/obo/HP_0025214		Triggered by heat|Heat triggered symptoms
OBO:HP_0025215	Triggered by febrile illness	biolink:OntologyClass	hp		Applies to a sign or symptom that is provoked or brought about by febrile illness.	http://purl.obolibrary.org/obo/HP_0025215		Triggered by fever|Febrile illness triggered symptoms
OBO:HP_0025216	Triggered by heavy meal	biolink:OntologyClass	hp		Applies to a sign or symptom that is provoked or brought about by eating large quantities of food, for instance, by a heavy meal.	http://purl.obolibrary.org/obo/HP_0025216		Triggered by overeating|Heavy meal triggered symptoms
OBO:HP_0025217	Triggered by high-fat diet	biolink:OntologyClass	hp		Applies to a sign or symptom that is provoked or brought about by eating a diet high in lipids.	http://purl.obolibrary.org/obo/HP_0025217		Triggered by high-fat diet|High-fat diet triggered symptoms
OBO:HP_0025218	Triggered by hyperventilation	biolink:OntologyClass	hp		Applies to a sign or symptom that is provoked or brought about by excessively rapid and deep breathing.	http://purl.obolibrary.org/obo/HP_0025218		Triggered by hyperventilation|Hyperventilation triggered symptoms
OBO:HP_0025219	Triggered by vaccination	biolink:OntologyClass	hp		Applies to a sign or symptom that is provoked or brought about by a vaccination.	http://purl.obolibrary.org/obo/HP_0025219		Triggered by vaccination|Triggered by immunization|Vaccination triggered symptoms
OBO:HP_0025220	Triggered by menstruation	biolink:OntologyClass	hp		Applies to a sign or symptom that is provoked or brought about by menstruation in a female.	http://purl.obolibrary.org/obo/HP_0025220		Triggered by monthly period|Triggered by period|Menstruation triggered symptoms
OBO:HP_0025221	Triggered by pregnancy	biolink:OntologyClass	hp		Applies to a sign or symptom that is provoked or brought about by pregnancy in a female.	http://purl.obolibrary.org/obo/HP_0025221		Triggered by pregnancy|Pregnancy triggered symptoms
OBO:HP_0025222	Triggered by sleep deprivation	biolink:OntologyClass	hp		Applies to a sign or symptom that is provoked or brought about by a lack of sufficient sleep.	http://purl.obolibrary.org/obo/HP_0025222		Triggered by sleep deprivation|Sleep deprivation triggered symptoms
OBO:HP_0025223	Triggered by smoking	biolink:OntologyClass	hp		Applies to a sign or symptom that is provoked or brought about by smoking.	http://purl.obolibrary.org/obo/HP_0025223		Triggered by cigarette consumption|Triggered by smoking|Triggered by tobacco use|Smoking triggered symptoms
OBO:HP_0025224	Triggered by sodium ingestion	biolink:OntologyClass	hp		Applies to a sign or symptom that is provoked or brought about by eating or drinking sodium.	http://purl.obolibrary.org/obo/HP_0025224		Triggered by Na ingestion|Triggered by Na+ ingestion|Triggered by salt ingestion|Sodium ingestion triggered symptoms|Sodium intake triggered attacks|Triggered by sodium intake
OBO:HP_0025225	Triggered by sound	biolink:OntologyClass	hp		Applies to a sign or symptom that is provoked or brought about by exposure to sound or noise.	http://purl.obolibrary.org/obo/HP_0025225		Triggered by sound|Sound triggered symptoms
OBO:HP_0025226	Triggered by stress	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025226		Triggered by stress|Stress triggered symptoms
OBO:HP_0025227	Triggered by excitement	biolink:OntologyClass	hp		Applies to a sign or symptom that is provoked or brought about by a a state of excitement or by being startled.	http://purl.obolibrary.org/obo/HP_0025227		Triggered by excitement|Excitement triggered symptoms|Triggered by startle
OBO:HP_0025228	Triggered by sudden movement	biolink:OntologyClass	hp		Applies to a sign or symptom that is provoked or brought about by a sudden movement.	http://purl.obolibrary.org/obo/HP_0025228		Triggered by sudden movement|Kinesigenic|Sudden movement triggered symptoms
OBO:HP_0025229	Triggered by vestibular stimulation	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025229		Vestibular stimulation triggered attacks|Vestibular stimulation triggered symptoms
OBO:HP_0025230	Tendonitis	biolink:OntologyClass	hp		Inflammation of a tendon.	http://purl.obolibrary.org/obo/HP_0025230		Teninitis
OBO:HP_0025231	Abnormality of synovial bursa morphology	biolink:OntologyClass	hp		A structural anomaly of a synovial bursa.	http://purl.obolibrary.org/obo/HP_0025231		
OBO:HP_0025232	Bursitis	biolink:OntologyClass	hp		Inflammation of a synovial bursa.	http://purl.obolibrary.org/obo/HP_0025232		
OBO:HP_0025233	Sleep paralysis	biolink:OntologyClass	hp		An inability to move the body at sleep onset or upon awakening from sleep lasting seconds to a few minutes.	http://purl.obolibrary.org/obo/HP_0025233		
OBO:HP_0025234	Parasomnia	biolink:OntologyClass	hp		An undesirable physical event or experience that occur during entry into sleep, during sleep, or during arousal from sleep.	http://purl.obolibrary.org/obo/HP_0025234		
OBO:HP_0025235	Non-rapid eye movement parasomnia	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0025235		NREM parasomnia
OBO:HP_0025236	Somnambulism	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025236		Sleep walking
OBO:HP_0025237	Confusional arousal	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025237		
OBO:HP_0025238	Foot pain	biolink:OntologyClass	hp		An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the foot.	http://purl.obolibrary.org/obo/HP_0025238		Foot pain
OBO:HP_0025239	Subhyaloid hemorrhage	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025239		Subhyaloid haemorrhage|Subhyaloid heme
OBO:HP_0025240	Preretinal hemorrhage	biolink:OntologyClass	hp		An accumulation of blood between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation.	http://purl.obolibrary.org/obo/HP_0025240		Preretinal haemorrhage|Preretinal heme
OBO:HP_0025241	Flame-shaped retinal hemorrhage	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0025241		Flame-shaped retinal haemorrhage|Feathered retinal heme|Linear retina heme
OBO:HP_0025242	Dot-and-blot retinal hemorrhage	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025242		Dot-and-blot retinal haemorrhage|Round retinal heme
OBO:HP_0025243	Subretinal hemorrhage	biolink:OntologyClass	hp		Accumulation of blood located beneath the neurosensory retina in the space between the neurosensory retina and the retinal pigment epithelium.	http://purl.obolibrary.org/obo/HP_0025243		Subretinal haemorrhage|Subretinal heme
OBO:HP_0025244	Subretinal pigment epithelium hemorrhage	biolink:OntologyClass	hp		An accumulation of blood located between the retinal pigment epithelium (RPE) and Bruch's membrane.	http://purl.obolibrary.org/obo/HP_0025244		Subretinal pigment epithelium haemorrhage
OBO:HP_0025245	Cutaneous cyst	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025245		
OBO:HP_0025246	Trichilemmal cyst	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025246		Pilar cyst
OBO:HP_0025247	Dermoid cyst	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025247		
OBO:HP_0025248	Eruptive vellus hair cyst	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025248		
OBO:HP_0025249	Comedo	biolink:OntologyClass	hp		A clogged cutaneous sebaceous follicle, which is a cutaneous gland that secretes sebum (usually into a hair follicle).	http://purl.obolibrary.org/obo/HP_0025249		
OBO:HP_0025250	Closed comedo	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025250		Whitehead
OBO:HP_0025251	Open comedo	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025251		Blackhead
OBO:HP_0025252	Geographic tongue	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025252		Annulus migrans|Benign migratory glossitis|Glossitis areata exfoliativa|Lingual erythema migrans|Wandering rash of the tongue
OBO:HP_0025253	Claustrophobia	biolink:OntologyClass	hp		An abnormal fear of being in a closed or narrow space with no escape.	http://purl.obolibrary.org/obo/HP_0025253		
OBO:HP_0025254	Ameliorated by	biolink:OntologyClass	hp		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	http://purl.obolibrary.org/obo/HP_0025254		Improved by
OBO:HP_0025255	Ameliorated by pregnancy	biolink:OntologyClass	hp		Applies to a sign or symptom that is improved or made more bearable by pregnancy in a female.	http://purl.obolibrary.org/obo/HP_0025255		Pregnancy relieves symptoms
OBO:HP_0025256	Ameliorated by heat	biolink:OntologyClass	hp		Applies to a sign or symptom that is improved or made more bearable by heat (including fever).	http://purl.obolibrary.org/obo/HP_0025256		Heat improves condition|Heat improves symptom|Fever improves condition
OBO:HP_0025257	Ameliorated by carbohydrate ingestion	biolink:OntologyClass	hp		Applies to a sign or symptom that is improved or made more bearable by eating or drinking carbohydrates including glucose (sugar).	http://purl.obolibrary.org/obo/HP_0025257		
OBO:HP_0025258	Stiff neck	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025258		Neck stiffness|Stiff neck
OBO:HP_0025259	Stiff elbow	biolink:OntologyClass	hp		A sensation of tightness in the elbow joint when attempting to move it, especially after a period of inactivity.	http://purl.obolibrary.org/obo/HP_0025259		Elbow stiffness|Stiff elbow
OBO:HP_0025260	Stiff wrist	biolink:OntologyClass	hp		A sensation of tightness in the wrist joint when attempting to move it, especially after a period of inactivity.	http://purl.obolibrary.org/obo/HP_0025260		Stiff wrist|Wrist stiffness
OBO:HP_0025261	Stiff finger	biolink:OntologyClass	hp		A sensation of tightness in a finger joint when attempting to move it, especially after a period of inactivity.	http://purl.obolibrary.org/obo/HP_0025261		Finger stiffness|Stiff finger
OBO:HP_0025262	Stiff hip	biolink:OntologyClass	hp		A sensation of tightness in the hip joint when attempting to move it, especially after a period of inactivity.	http://purl.obolibrary.org/obo/HP_0025262		Hip stiffness|Stiff hip
OBO:HP_0025263	Stiff knee	biolink:OntologyClass	hp		A sensation of tightness in the knee joint when attempting to move it, especially after a period of inactivity.	http://purl.obolibrary.org/obo/HP_0025263		Knee stiffness|Stiff knee
OBO:HP_0025264	Stiff ankle	biolink:OntologyClass	hp		A sensation of tightness in the ankle joint when attempting to move it, especially after a period of inactivity.	http://purl.obolibrary.org/obo/HP_0025264		Ankle stiffness|Stiff ankle
OBO:HP_0025265	Stiff toe	biolink:OntologyClass	hp		A sensation of tightness in a toe joint when attempting to move it, especially after a period of inactivity.	http://purl.obolibrary.org/obo/HP_0025265		Stiff toe|Toe stiffness
OBO:HP_0025266	Cervical osteoarthritis	biolink:OntologyClass	hp		Degeneration (wear and tear) of the articular cartilage of the neck joints.	http://purl.obolibrary.org/obo/HP_0025266		
OBO:HP_0025267	Snoring	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025267		Snore|Snores|Snoring symptoms
OBO:HP_0025268	Stuttering	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025268		Stammering|Stuttering
OBO:HP_0025269	Panic attack	biolink:OntologyClass	hp		A sudden episode of intense fear in a situation in which there is no danger or apparent cause. The panic attack is accompanied by symptoms such as palpitations, sweating and chills or hot flushes. There may be a sensation of dyspnea (being out of breath), chest pain, or abdominal distress. Some individuals with panic attacks may experience depersonalization, a fear of going crazy, or a fear of dying.	http://purl.obolibrary.org/obo/HP_0025269		Panic attack
OBO:HP_0025270	Abnormality of esophagus physiology	biolink:OntologyClass	hp		Any physiological abnormality of the esophagus.	http://purl.obolibrary.org/obo/HP_0025270		Abnormality of oesophagus physiology|Functional abnormality of the esophagus
OBO:HP_0025271	Esophageal spasms	biolink:OntologyClass	hp		Involuntary contractions of the esophagus that are irregular, uncoordinated, and painful.	http://purl.obolibrary.org/obo/HP_0025271		
OBO:HP_0025272	Melasma	biolink:OntologyClass	hp		Symmetrical, blotchy, brownish facial pigmentation.	http://purl.obolibrary.org/obo/HP_0025272		Chloasma|Facial melanosis
OBO:HP_0025273	Achilles tendonitis	biolink:OntologyClass	hp		Inflammation of the Achilles tendon.	http://purl.obolibrary.org/obo/HP_0025273		
OBO:HP_0025274	Ovarian dermoid cyst	biolink:OntologyClass	hp		An cystic ovarian teratoma composed of dermal and epidermal elements and containing tissue components including hair, teeth, bone, thyroid, and others.	http://purl.obolibrary.org/obo/HP_0025274		Mature cystic ovarian teratoma
OBO:HP_0025275	Lateral	biolink:OntologyClass	hp		Applies to an abnormality that is located farther from the median plane or midline of the body or of the referenced structure.	http://purl.obolibrary.org/obo/HP_0025275		
OBO:HP_0025276	Abnormality of skin adnexa physiology	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025276		
OBO:HP_0025277	Gustatory sweating	biolink:OntologyClass	hp		Hyperhidrosis that occurs with gustatory stimulation (e.g., moisture on face from sweating that occurs after eating).	http://purl.obolibrary.org/obo/HP_0025277		
OBO:HP_0025278	Cold-induced sweating	biolink:OntologyClass	hp		Sweating provoked by cold temperature rather than by heat.	http://purl.obolibrary.org/obo/HP_0025278		
OBO:HP_0025279	Migratory	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0025279		
OBO:HP_0025280	Pain characteristic	biolink:OntologyClass	hp		A pain characteristic is defined as a subjective category or type of pain.	http://purl.obolibrary.org/obo/HP_0025280		
OBO:HP_0025281	Sharp	biolink:OntologyClass	hp		Applied to pain that is described as sharp, i.e., sudden and severe.	http://purl.obolibrary.org/obo/HP_0025281		
OBO:HP_0025282	Dull	biolink:OntologyClass	hp		Applied to pain that is dull, i.e., not severe but that continues over a long period of time.	http://purl.obolibrary.org/obo/HP_0025282		Dull pain
OBO:HP_0025283	Tender	biolink:OntologyClass	hp		Applied to pain that is tender, i.e., elicited by touching the affected body part.	http://purl.obolibrary.org/obo/HP_0025283		
OBO:HP_0025284	Sleep-interrupting	biolink:OntologyClass	hp		Applied to pain that wakes the affecting individual from sleep.	http://purl.obolibrary.org/obo/HP_0025284		
OBO:HP_0025285	Aggravated by	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025285		Exacerbated by
OBO:HP_0025286	Aggravated by activity	biolink:OntologyClass	hp		Applied to a sign or symptom that is aggravated by activity, exertion, or exercise.	http://purl.obolibrary.org/obo/HP_0025286		Aggravated by exercise|Aggravated by exertion|Worse with activity|Worsened by activity
OBO:HP_0025287	Axial	biolink:OntologyClass	hp		Applies to an abnormality that is situated in the central part of the body, in the head and trunk as distinguished from the limbs.	http://purl.obolibrary.org/obo/HP_0025287		
OBO:HP_0025289	Cervical lymphadenopathy	biolink:OntologyClass	hp		Enlarged lymph nodes in the neck.	http://purl.obolibrary.org/obo/HP_0025289		Swollen lymph nodes in the neck
OBO:HP_0025290	Upper-body predominance	biolink:OntologyClass	hp		Applies to an abnormality that affects the arms, trunk, head more than the legs.	http://purl.obolibrary.org/obo/HP_0025290		
OBO:HP_0025291	Lower-body predominance	biolink:OntologyClass	hp		Applies to an abnormality that affects the legs more than the arms, trunk, head.	http://purl.obolibrary.org/obo/HP_0025291		
OBO:HP_0025292	Acral	biolink:OntologyClass	hp		Applies to an abnormality that affects the distal portions of limbs (hand, foot) and head (ears, nose).	http://purl.obolibrary.org/obo/HP_0025292		
OBO:HP_0025293	Distributed along Blaschko lines	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025293		
OBO:HP_0025294	Dermatomal	biolink:OntologyClass	hp		Applies to an abnormality whose localization corresponds to the dermatomes, i.e., the nerve root distribution.	http://purl.obolibrary.org/obo/HP_0025294		Radicular
OBO:HP_0025295	Herpetiform	biolink:OntologyClass	hp		Applies to an abnormality whose distribution and appearance resembles that of the grouped umbilicated vesicles seen in herpes simplex and herpes zoster infections.	http://purl.obolibrary.org/obo/HP_0025295		
OBO:HP_0025296	Morbilliform	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025296		
OBO:HP_0025297	Prolonged	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0025297		
OBO:HP_0025300	Malar rash	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025300		Butterfly rash|Cheekbone rash
OBO:HP_0025301	Nocturnal	biolink:OntologyClass	hp		Applies to an abnormality that occurs in or is exacerbated during the night.	http://purl.obolibrary.org/obo/HP_0025301		
OBO:HP_0025302	Diurnal	biolink:OntologyClass	hp		Applies to a sign, symptom, or other abnormality that occurs in or is exacerbated in the day time.	http://purl.obolibrary.org/obo/HP_0025302		
OBO:HP_0025303	Episodic	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025303		Now and then
OBO:HP_0025304	Periodic	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025304		Cyclic|Cyclical
OBO:HP_0025305	Quotidian	biolink:OntologyClass	hp		Applies to a sign, symptom, or other manifestation that is episodic with a fixed time interval of one day (24 hours).	http://purl.obolibrary.org/obo/HP_0025305		
OBO:HP_0025306	Acute emergence over minutes	biolink:OntologyClass	hp		Acute appearance of disease manifestations in a period of minutes.	http://purl.obolibrary.org/obo/HP_0025306		
OBO:HP_0025307	Acute emergence over hours	biolink:OntologyClass	hp		Acute appearance of disease manifestations in a period of hours.	http://purl.obolibrary.org/obo/HP_0025307		
OBO:HP_0025308	Acute emergence over days	biolink:OntologyClass	hp		Acute appearance of disease manifestations in a period of days.	http://purl.obolibrary.org/obo/HP_0025308		
OBO:HP_0025309	Abnormal pupil shape	biolink:OntologyClass	hp		A deviation from the normal circular shape of the pupil	http://purl.obolibrary.org/obo/HP_0025309		Irregular pupil
OBO:HP_0025310	Oval pupil	biolink:OntologyClass	hp		An abnormal pupil shape that is elliptical, i.e., egg-like.	http://purl.obolibrary.org/obo/HP_0025310		
OBO:HP_0025311	Anterior chamber cyst	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025311		
OBO:HP_0025312	Esophoria	biolink:OntologyClass	hp		A form of strabismus with both eyes turned inward to a relatively mild degree, usually defined as less than 10 prism diopters.	http://purl.obolibrary.org/obo/HP_0025312		
OBO:HP_0025313	Exophoria	biolink:OntologyClass	hp		A form of strabismus with one or both eyes deviated outward to a milder degree than with exotropia.	http://purl.obolibrary.org/obo/HP_0025313		
OBO:HP_0025314	Choroidal nevus	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025314		
OBO:HP_0025315	Exacerbated by head trauma	biolink:OntologyClass	hp		Applies to a sign or symptom that is worsened, aggravated, or exacerbated by head trauma.	http://purl.obolibrary.org/obo/HP_0025315		
OBO:HP_0025317	Cubitus varus	biolink:OntologyClass	hp		A deformity of the elbow in which there is a deviation of the forearm toward the midline of the body.	http://purl.obolibrary.org/obo/HP_0025317		
OBO:HP_0025318	Ovarian carcinoma	biolink:OntologyClass	hp	NCIT:C4908	A malignant neoplasm originating from the surface ovarian epithelium.	http://purl.obolibrary.org/obo/HP_0025318		Ovarian epithelial cancer
OBO:HP_0025319	Rubeosis iridis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025319		
OBO:HP_0025320	Leakage of dye on fundus fluorescein angiography	biolink:OntologyClass	hp		Leakage of fluorescein dye observed upon retinal fluorescein angiography. Areas of leakage can be appreciated as showing gradual enlargement with blurring of margins.	http://purl.obolibrary.org/obo/HP_0025320		Fluorescein leakage
OBO:HP_0025321	Copper accumulation in liver	biolink:OntologyClass	hp		An anomalous build up of copper (Cu) in the liver.	http://purl.obolibrary.org/obo/HP_0025321		Liver copper accumulation
OBO:HP_0025322	Venous occlusion	biolink:OntologyClass	hp		Blockage of venous return (flow of blood from the periphery back towards the right atrium) in a vein.	http://purl.obolibrary.org/obo/HP_0025322		
OBO:HP_0025323	Abnormal arterial physiology	biolink:OntologyClass	hp		An anomaly of arterial function.	http://purl.obolibrary.org/obo/HP_0025323		
OBO:HP_0025324	Arterial occlusion	biolink:OntologyClass	hp		Blockage of blood flow through an artery.	http://purl.obolibrary.org/obo/HP_0025324		
OBO:HP_0025325	Sparse medial eyebrow	biolink:OntologyClass	hp		Decreased density/number and/or decreased diameter of medial eyebrow hairs.	http://purl.obolibrary.org/obo/HP_0025325		Medial thinning of eyebrow
OBO:HP_0025326	Retinal arterial occlusion	biolink:OntologyClass	hp		Blockage of the retinal artery, generally associated with interruption of blood flow and oxygen delivery to the retina.	http://purl.obolibrary.org/obo/HP_0025326		Retinal artery occlusion
OBO:HP_0025327	Decreased renal parenchymal thickness	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025327		
OBO:HP_0025328	Antepartum hemorrhage	biolink:OntologyClass	hp		Significant maternal hemorrhage/bleed in the second half of pregnancy and prior to the birth of the baby.	http://purl.obolibrary.org/obo/HP_0025328		Antepartum haemorrhage|Prepartum haemorrhage|Prepartum hemorrhage
OBO:HP_0025329	Anti-glutamic acid decarboxylase antibody positivity	biolink:OntologyClass	hp		The presence of autoantibodies (immunoglobulins) in the serum that react against glutamic acid decarboxylase.	http://purl.obolibrary.org/obo/HP_0025329		Anti-GAD antibody positivity
OBO:HP_0025330	Downgaze palsy	biolink:OntologyClass	hp		A limitation of the ability to direct one's gaze below the horizontal meridian.	http://purl.obolibrary.org/obo/HP_0025330		Downgaze paresis|Supranuclear downgaze palsy
OBO:HP_0025331	Upgaze palsy	biolink:OntologyClass	hp		A limitation of the ability to direct one's gaze above the horizontal meridian.	http://purl.obolibrary.org/obo/HP_0025331		Supranuclear upgaze palsy|Upgaze paresis
OBO:HP_0025332	Abnormality of foot cortical bone	biolink:OntologyClass	hp		An anomaly of the outer shell (cortex) of a foot bone.	http://purl.obolibrary.org/obo/HP_0025332		Abnormality of the cortex of foot bones
OBO:HP_0025333	Cortical thinning of foot bones	biolink:OntologyClass	hp		A reduction in the thickness of the outer shell (cortex) of foot bones.	http://purl.obolibrary.org/obo/HP_0025333		
OBO:HP_0025334	Triggered by emotion	biolink:OntologyClass	hp		Applies to a sign or symptom that is provoked or brought about by a strong spontaneously arising mental state, reaction or feeling (emotion).	http://purl.obolibrary.org/obo/HP_0025334		Emotion triggered symptoms
OBO:HP_0025335	Delayed ability to stand	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025335		
OBO:HP_0025336	Delayed ability to sit	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025336		
OBO:HP_0025337	Red eye	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025337		Red eye|Red eyes
OBO:HP_0025338	Circumlimbal hyperemia	biolink:OntologyClass	hp		A ring of redness at the limbus of the eye, the border between the cornea and the sclera.	http://purl.obolibrary.org/obo/HP_0025338		Circumlimbal hyperaemia|Ciliary limbus
OBO:HP_0025339	Superficial episcleral hyperemia	biolink:OntologyClass	hp		Prominence of blood vessels of the superficial episcleral tissues.	http://purl.obolibrary.org/obo/HP_0025339		Superficial episcleral hypaeremia
OBO:HP_0025340	Deep episcleral hyperemia	biolink:OntologyClass	hp		Prominence of blood vessels of the deep episcleral tissues.	http://purl.obolibrary.org/obo/HP_0025340		Deep episcleral hyperaemia
OBO:HP_0025341	Corneal keratic precipitates	biolink:OntologyClass	hp		An inflammatory cellular deposit deposited on the corneal endothelium and visible as spots on the cornea.	http://purl.obolibrary.org/obo/HP_0025341		
OBO:HP_0025342	Central retinal artery occlusion	biolink:OntologyClass	hp		Blockage of the main artery in the retina. The typical presentation is one of profound monocular visual loss.	http://purl.obolibrary.org/obo/HP_0025342		
OBO:HP_0025343	Lupus anticoagulant	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025343		
OBO:HP_0025344	Interlobular bile duct destruction	biolink:OntologyClass	hp		Damage to and obliteration of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts).	http://purl.obolibrary.org/obo/HP_0025344		
OBO:HP_0025345	Abnormality of circulating beta-2-microglobulin level	biolink:OntologyClass	hp		A deviation from the normal concentration of beta-2-microglobulin in the blood.	http://purl.obolibrary.org/obo/HP_0025345		Abnormality of circulating B2M level|Abnormality of circulating beta2-m level|Abnormality of circulating beta2m level|Abnormality of circulating beta2 microglobulin level
OBO:HP_0025346	Increased circulating beta-2-microglobulin level	biolink:OntologyClass	hp		Elevated concentration of beta-2-microglobulin in the blood.	http://purl.obolibrary.org/obo/HP_0025346		Elevated circulating beta-2-microglobulin level
OBO:HP_0025347	Decreased circulating beta-2-microglobulin level	biolink:OntologyClass	hp		Reduced concentration of beta-2-microglobulin in the blood.	http://purl.obolibrary.org/obo/HP_0025347		Reduced circulating beta-2-microglobulin level
OBO:HP_0025348	Abnormality of the corneal limbus	biolink:OntologyClass	hp		An anomaly of the margin of the cornea overlapped by the sclera.	http://purl.obolibrary.org/obo/HP_0025348		
OBO:HP_0025349	Limbal edema	biolink:OntologyClass	hp		Swelling of the margin of the cornea overlapped by the sclera.	http://purl.obolibrary.org/obo/HP_0025349		Limbal oedema
OBO:HP_0025350	Giant conjunctival papillae	biolink:OntologyClass	hp		Conjunctival papillae with a diameter greater than 1 millimeter. They characteristically have flattened tops which sometimes demonstrate staining with fluorescein.	http://purl.obolibrary.org/obo/HP_0025350		
OBO:HP_0025351	Recurrent interdigital mycosis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025351		Recurrent interdigital tinea
OBO:HP_0025352	Autosomal dominant germline de novo mutation	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025352		
OBO:HP_0025353	Anti-multiple nuclear dots antibody positivity	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025353		Anti-MND antibodies|Anti-sp100 antibody positivity
OBO:HP_0025354	Abnormal cellular phenotype	biolink:OntologyClass	hp		An anomaly of cellular morphology or physiology.	http://purl.obolibrary.org/obo/HP_0025354		
OBO:HP_0025355	Retinal arterial macroaneurysms	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025355		
OBO:HP_0025356	Psychomotor retardation	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0025356		Motormental retardation|Psychomotor impairment|Psychomotor slowing
OBO:HP_0025357	Erratic myoclonus	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025357		Fragmentary myoclonus
OBO:HP_0025358	Uveal ectropion	biolink:OntologyClass	hp		Presence of iris pigment epithelium on the anterior surface of the iris.	http://purl.obolibrary.org/obo/HP_0025358		Ectropion uveae
OBO:HP_0025359	Polygonal renal calices	biolink:OntologyClass	hp		An abnormal polygonal shape of the calices of the kidney (which normally have a rounded or cup-shaped appearance).	http://purl.obolibrary.org/obo/HP_0025359		Polygonal calices|Polygonal-shaped calices
OBO:HP_0025360	Polycalycosis	biolink:OntologyClass	hp		Increased number of calices of the kidney.	http://purl.obolibrary.org/obo/HP_0025360		
OBO:HP_0025361	Abnormality of medullary pyramid morphology	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025361		
OBO:HP_0025362	Renal medullary pyramid hypoplasia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025362		Hypoplasia of the medullary pyramids
OBO:HP_0025363	Glomerular endocapillary hypercellularity	biolink:OntologyClass	hp		Hypercellularity due to increased number of cells within glomerular capillary lumina, causing narrowing of the lumina.	http://purl.obolibrary.org/obo/HP_0025363		Endocapillary hypercellularity
OBO:HP_0025364	Glomerular extracapillary hypercellularity	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025364		Extracapillary glomerular hypercellularity|Extracapillary hypercellularity
OBO:HP_0025367	Trichoepithelioma	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025367		
OBO:HP_0025368	Abnormality of growth plate morphology	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0025368		
OBO:HP_0025369	Thick growth plates	biolink:OntologyClass	hp		Increased thickness (dimension along the axis of the bone) of the growth plate.	http://purl.obolibrary.org/obo/HP_0025369		
OBO:HP_0025370	Abnormal ossification of the sacrum	biolink:OntologyClass	hp		Abnormal bone tissue formation (ossification) affecting the sacrum.	http://purl.obolibrary.org/obo/HP_0025370		
OBO:HP_0025371	Delayed ossification of the sacrum	biolink:OntologyClass	hp		Formation of the sacrum bone tissue occurs later than age-adjusted norms.	http://purl.obolibrary.org/obo/HP_0025371		
OBO:HP_0025372	Loud snoring	biolink:OntologyClass	hp		Particularly loud snoring, snoring at high volume.	http://purl.obolibrary.org/obo/HP_0025372		Has loud snoring|Have loud snoring|Heavy snoring|Snores loudly
OBO:HP_0025373	Interictal EEG abnormality	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025373		
OBO:HP_0025374	Duplicated odontoid process	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025374		
OBO:HP_0025375	Orthotopic os odontoideum	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025375		
OBO:HP_0025376	Hyperglutaminuria	biolink:OntologyClass	hp		An increased concentration of glutamine in the urine.	http://purl.obolibrary.org/obo/HP_0025376		Glutaminuria
OBO:HP_0025377	Triggered by exertion	biolink:OntologyClass	hp		Applies to a sign or symptom that is provoked or brought about by exertion or physical exercise.	http://purl.obolibrary.org/obo/HP_0025377		Exertion triggered symptoms|Triggered by physical exercise
OBO:HP_0025379	Anti-thyroid peroxidase antibody positivity	biolink:OntologyClass	hp		The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid peroxidase.	http://purl.obolibrary.org/obo/HP_0025379		
OBO:HP_0025380	Increased serum androstenedione	biolink:OntologyClass	hp		Increased level of circulating 4-androstenedione.	http://purl.obolibrary.org/obo/HP_0025380		
OBO:HP_0025381	Anti-pituitary antibody positivity	biolink:OntologyClass	hp		Circulating antipituitary antibodies (APA) are markers of autoimmune hypophysitis, which may cause deficient pituitary function.	http://purl.obolibrary.org/obo/HP_0025381		
OBO:HP_0025382	Hypodipsia	biolink:OntologyClass	hp		Reduced fluid intake (drinking) in a clinical situation where the plasma molarity or sodium concentration normally would induce greater fluid intake.	http://purl.obolibrary.org/obo/HP_0025382		
OBO:HP_0025383	Dorsocervical fat pad	biolink:OntologyClass	hp		An area of fat accumulation at the back of the neck in the form of a hump.	http://purl.obolibrary.org/obo/HP_0025383		Buffalo hump
OBO:HP_0025384	Diet-resistant subcutaneous adipose tissue	biolink:OntologyClass	hp		Areas of subcutanous fat tissue that are resistant to (do not respond as expected to) diet, life-style alteration, or bariatric surgery.	http://purl.obolibrary.org/obo/HP_0025384		
OBO:HP_0025385	Diet-resistant subcutaneous adipose tissue below waist	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025385		
OBO:HP_0025386	Bitemporal hollowing	biolink:OntologyClass	hp		Depression of profile in both temporal regions.	http://purl.obolibrary.org/obo/HP_0025386		
OBO:HP_0025387	Pill-rolling tremor	biolink:OntologyClass	hp		A type of resting tremor characterized by simultaneous rubbing movements of thumb and index fingers against each other.	http://purl.obolibrary.org/obo/HP_0025387		Pill rolling
OBO:HP_0025388	Thyroid nodule	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025388		
OBO:HP_0025389	Pulmonary interstitial high-resolution computed tomography abnormality	biolink:OntologyClass	hp		High-resolution computed tomography (HRCT) can distinguish findings that characterize characterise interstitial lung diseases in a way not possible with other modalities.	http://purl.obolibrary.org/obo/HP_0025389		Pulmonary interstitiatial HRCT abnormality
OBO:HP_0025390	Reticular pattern on pulmonary HRCT	biolink:OntologyClass	hp		On pulmonary high-resolution computed tomography, reticular pattern is characterised by innumerable interlacing shadows suggesting a mesh.	http://purl.obolibrary.org/obo/HP_0025390		
OBO:HP_0025391	Crazy paving pattern on pulmonary HRCT	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025391		
OBO:HP_0025392	Nodular pattern on pulmonary HRCT	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025392		
OBO:HP_0025393	Reticulonodular pattern on pulmonary HRCT	biolink:OntologyClass	hp		Co-occurrence of reticular and micronodular patterns on pulmonary high-resolution computed tomography.	http://purl.obolibrary.org/obo/HP_0025393		
OBO:HP_0025394	Cystic pattern on pulmonary HRCT	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025394		
OBO:HP_0025395	Combined cystic and ground-glass pattern on pulmonary HRCT	biolink:OntologyClass	hp		Co-occurrence of the cystic pattern and the ground-glass pattern on pulmonary high-resolution computed tomography,	http://purl.obolibrary.org/obo/HP_0025395		
OBO:HP_0025396	Decreased attenuation pattern on pulmonary HRCT	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025396		Black lung pattern on pulmonary HRCT
OBO:HP_0025397	Mosaic attenuation pattern on pulmonary HRCT	biolink:OntologyClass	hp		A patchwork of intermingled areas of increased and decreased attenuation visualized on pulmonary high-resolution computed tomography.	http://purl.obolibrary.org/obo/HP_0025397		
OBO:HP_0025398	Nodular-perilymphatic pattern on pulmonary HRCT	biolink:OntologyClass	hp		A nodular pattern on pulmonary high-resolution computed tomography that has a perilymphatic distribution.	http://purl.obolibrary.org/obo/HP_0025398		
OBO:HP_0025399	Nodular-centrilobular with tree-in-bud pattern on pulmonary HRCT	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025399		
OBO:HP_0025400	Nodular-random pattern on pulmonary HRCT	biolink:OntologyClass	hp		A nodular pattern on pulmonary high-resolution computed tomography that has an apparently random pattern.	http://purl.obolibrary.org/obo/HP_0025400		
OBO:HP_0025401	Staring gaze	biolink:OntologyClass	hp		An abnormality in which the eyes are held permanently wide open.	http://purl.obolibrary.org/obo/HP_0025401		Staring eyes
OBO:HP_0025402	Square-wave jerks	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025402		
OBO:HP_0025403	Stooped posture	biolink:OntologyClass	hp		A habitual positioning of the body with the head and upper back bent forward.	http://purl.obolibrary.org/obo/HP_0025403		
OBO:HP_0025404	Abnormal visual fixation	biolink:OntologyClass	hp		Any anomaly in the process of ocular fixation, which is the maintaining of the visual gaze on a single location.	http://purl.obolibrary.org/obo/HP_0025404		
OBO:HP_0025405	Visual fixation instability	biolink:OntologyClass	hp		A deficit in the ability to fixate eye movements in order to stabilize images on the retina	http://purl.obolibrary.org/obo/HP_0025405		Instability of ocular fixation
OBO:HP_0025406	Asthenia	biolink:OntologyClass	hp		A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body.	http://purl.obolibrary.org/obo/HP_0025406		
OBO:HP_0025407	Rectourethral fistula	biolink:OntologyClass	hp		An abnormal connection (fistula) between the rectum and the urethra.	http://purl.obolibrary.org/obo/HP_0025407		Urethrorectal fistula
OBO:HP_0025408	Abnormal spleen morphology	biolink:OntologyClass	hp		Any anomaly of the structure of the spleen.	http://purl.obolibrary.org/obo/HP_0025408		
OBO:HP_0025409	Abnormal spleen physiology	biolink:OntologyClass	hp		Any anomaly of the function of the spleen.	http://purl.obolibrary.org/obo/HP_0025409		
OBO:HP_0025410	Splenogonadal fusion	biolink:OntologyClass	hp		Joining of the spleen and a gonad during embryological development.	http://purl.obolibrary.org/obo/HP_0025410		
OBO:HP_0025413	Fossa navicularis urethral stricture	biolink:OntologyClass	hp		A type of urethral stricture affecting the fossa navicularis, which is the spongy part of the male urethra located at the glans penis.	http://purl.obolibrary.org/obo/HP_0025413		
OBO:HP_0025414	Pendulous urethral stricture	biolink:OntologyClass	hp		A type of urethral stricture affecting the pendulous urethra, which is straight and fixed to the corpora cavernosa.	http://purl.obolibrary.org/obo/HP_0025414		
OBO:HP_0025415	Bulbar urethral stricture	biolink:OntologyClass	hp		A type of urethral stricture affecting the bulbar urethra, which is the part of the urethra that traverses the root of the penis.	http://purl.obolibrary.org/obo/HP_0025415		
OBO:HP_0025416	Vaginal stricture	biolink:OntologyClass	hp		A narrowing of the vagina owing to scar formation.	http://purl.obolibrary.org/obo/HP_0025416		
OBO:HP_0025417	Patulous urethra	biolink:OntologyClass	hp		Urethra more open or expanded than normal.	http://purl.obolibrary.org/obo/HP_0025417		
OBO:HP_0025418	Renal cortical necrosis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025418		Necrosis of the kidney cortex
OBO:HP_0025419	Pulmonary pneumatocele	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025419		Pulmonary pneumatocoele
OBO:HP_0025420	Diffuse alveolar hemorrhage	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025420		Diffuse alveolar haemorrhage
OBO:HP_0025421	Pneumomediastinum	biolink:OntologyClass	hp		The presence of free air in the mediastinum.	http://purl.obolibrary.org/obo/HP_0025421		
OBO:HP_0025422	Pleural cyst	biolink:OntologyClass	hp		A closed sac-like structure originating from the pleura that contains a liquid, gaseous, or semisolid substance.	http://purl.obolibrary.org/obo/HP_0025422		
OBO:HP_0025423	Abnormal larynx morphology	biolink:OntologyClass	hp		Any anomaly of the structure of the larynx.	http://purl.obolibrary.org/obo/HP_0025423		
OBO:HP_0025424	Abnormal larynx physiology	biolink:OntologyClass	hp		Any anomaly of the function of the larynx.	http://purl.obolibrary.org/obo/HP_0025424		
OBO:HP_0025425	Laryngospasm	biolink:OntologyClass	hp		A spasm (involuntary contraction) of the vocal cords that can make it difficult to speak or breathe.	http://purl.obolibrary.org/obo/HP_0025425		
OBO:HP_0025426	Abnormal bronchus morphology	biolink:OntologyClass	hp		Any structural anomaly of the bronchi, i.e., of the airways leading from the trachea to the lungs.	http://purl.obolibrary.org/obo/HP_0025426		Abnormality of the bronchi
OBO:HP_0025427	Abnormal bronchus physiology	biolink:OntologyClass	hp		Any anomaly of the function of the bronchi.	http://purl.obolibrary.org/obo/HP_0025427		
OBO:HP_0025428	Bronchospasm	biolink:OntologyClass	hp		A spasm (sudden, involuntary constriction) of the bronchioles.	http://purl.obolibrary.org/obo/HP_0025428		
OBO:HP_0025429	Abnormal cry	biolink:OntologyClass	hp		Any anomaly of the vocalizing of an infant's crying, i.e.,the typically loud voice production that is accompanied by tears and agitation.	http://purl.obolibrary.org/obo/HP_0025429		
OBO:HP_0025430	High-pitched cry	biolink:OntologyClass	hp		A type of crying in an abnormally high-pitched voice.	http://purl.obolibrary.org/obo/HP_0025430		
OBO:HP_0025431	Staccato cry	biolink:OntologyClass	hp		A type of cry that is abnormal because it is consists of unusually shortened and detached vocalizations.	http://purl.obolibrary.org/obo/HP_0025431		
OBO:HP_0025432	Acanthoma	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025432		
OBO:HP_0025433	Decreased lecithin cholesterol acyl transferase level	biolink:OntologyClass	hp		Reduced level of the enzyme lecithin cholesterol acyl transferase.	http://purl.obolibrary.org/obo/HP_0025433		
OBO:HP_0025434	Reduced hemolytic complement activity	biolink:OntologyClass	hp		A diminished activity of the classical complement pathway as measured by the assay for 50% haemolytic complement (CH50) activity of serum.	http://purl.obolibrary.org/obo/HP_0025434		Reduced CH50
OBO:HP_0025435	Increased lactate dehydrogenase level	biolink:OntologyClass	hp		An elevated level of the enzyme lactate dehydrogenase in serum.	http://purl.obolibrary.org/obo/HP_0025435		
OBO:HP_0025436	Elevated serum 11-deoxycortisol	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025436		Elevated serum 21-hydroxyprogesterone|Elevated serum deoxycorticosterone
OBO:HP_0025437	Macrocephalic sperm head	biolink:OntologyClass	hp		Increased size of the head of sperm.	http://purl.obolibrary.org/obo/HP_0025437		
OBO:HP_0025439	Pharyngitis	biolink:OntologyClass	hp		Inflammation (due to infection or irritation) of the pharynx.	http://purl.obolibrary.org/obo/HP_0025439		
OBO:HP_0025440	Warm reactive autoantibody positivity	biolink:OntologyClass	hp		Warm reactive autoantibodies are RBC-directed immune responses that are maximally reactive at 37 degrees C.	http://purl.obolibrary.org/obo/HP_0025440		
OBO:HP_0025441	Achilles tendon calcification	biolink:OntologyClass	hp		Ectopic deposition of calcium salts in the Achilles tendon.	http://purl.obolibrary.org/obo/HP_0025441		Calcification of the Achilles tendon
OBO:HP_0025443	Abnormal cardiac atrial physiology	biolink:OntologyClass	hp		An abnormality of the function of the cardiac atria.	http://purl.obolibrary.org/obo/HP_0025443		
OBO:HP_0025444	Reduced amygdala volume	biolink:OntologyClass	hp		A decrease in the volume (size) of the amygdyla.	http://purl.obolibrary.org/obo/HP_0025444		Decrease in amygdala volume
OBO:HP_0025445	Morphological abnormality of the papillary muscles	biolink:OntologyClass	hp		Any structural anomaly of the papillary muscles of the left ventricle.	http://purl.obolibrary.org/obo/HP_0025445		
OBO:HP_0025446	Anomalous insertion of papillary muscle directly into anterior mitral leaflet	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025446		
OBO:HP_0025447	Displacement of the papillary muscles	biolink:OntologyClass	hp		Abnormal location of the insertion of a papillary muscle into the left ventricular wall.	http://purl.obolibrary.org/obo/HP_0025447		
OBO:HP_0025448	Anterior displacement of the papillary muscles	biolink:OntologyClass	hp		Abnormally anterior location of the papillary muscles of the left ventricle.	http://purl.obolibrary.org/obo/HP_0025448		Anteriorly displaced papillary muscles
OBO:HP_0025449	Apically displaced anterolateral papillary muscle	biolink:OntologyClass	hp		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,	http://purl.obolibrary.org/obo/HP_0025449		Apically displaced papillary muscles
OBO:HP_0025451	Testicular adrenal rest tumor	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025451		Testicular adrenal rest tumour
OBO:HP_0025452	Pyoderma gangrenosum	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025452		
OBO:HP_0025453	Delayed adrenarche	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025453		
OBO:HP_0025454	Abnormal CSF metabolite level	biolink:OntologyClass	hp		Any deviation from the normal range of concentration of a metabolite in the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0025454		
OBO:HP_0025455	Decreased CSF 5-hydroxyindolacetic acid	biolink:OntologyClass	hp		CSF 5-HIAA (5-hydroxyindolacetic acid) level is below the lower limit of normal.	http://purl.obolibrary.org/obo/HP_0025455		Decreased CSF 5-HIAA|Low CSF 5-HIAA|Low CSF 5-hydroxyindolacetic acid
OBO:HP_0025456	Abnormal CSF protein level	biolink:OntologyClass	hp		Any deviation from the normal range of a protein concentration in the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0025456		
OBO:HP_0025457	Decreased CSF protein	biolink:OntologyClass	hp		CSF total protein level is below the lower limit of normal.	http://purl.obolibrary.org/obo/HP_0025457		Low CSF total protein|Decreased cerebrospinal fluid total protein|Hypoproteinorrhachia
OBO:HP_0025458	Decreased CSF albumin concentration	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0025458		Low CSF albumin|CSF albumin level is below the lower limit of normal.
OBO:HP_0025459	Increased CSF/serum albumin ratio	biolink:OntologyClass	hp		An increase above normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration.	http://purl.obolibrary.org/obo/HP_0025459		
OBO:HP_0025460	High myoinositol in brain by MRS	biolink:OntologyClass	hp		An elevated level of myoinositol in the brain identified by magnetic resonance spectroscopy (MRS).	http://purl.obolibrary.org/obo/HP_0025460		High myo-inositol in brain by MRS
OBO:HP_0025461	Abnormal cell morphology	biolink:OntologyClass	hp		Any anomaly of cell structure.	http://purl.obolibrary.org/obo/HP_0025461		
OBO:HP_0025462	obsolete Abnormal cellular physiology	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0025462		
OBO:HP_0025463	Abnormality of redox activity	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025463		
OBO:HP_0025464	Increased reactive oxygen species production	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025464		Increased ROS production|Oxidative stress
OBO:HP_0025465	Abnormal circulating beta globulin level	biolink:OntologyClass	hp		A deviation from the normal concentration of beta globulin. The beta globulins are a group of globular (globe-shaped) proteins in blood.	http://purl.obolibrary.org/obo/HP_0025465		
OBO:HP_0025466	Beta 2-microglobulinuria	biolink:OntologyClass	hp		Increased level of beta 2-microglobulins in the urine.	http://purl.obolibrary.org/obo/HP_0025466		
OBO:HP_0025469	Anagen effluvium	biolink:OntologyClass	hp		An abnormal loss of anagen (growth phase) hairs.	http://purl.obolibrary.org/obo/HP_0025469		
OBO:HP_0025470	Telogen effluvium	biolink:OntologyClass	hp		A type of hair loss characterized by an abnormal increase in dormant, telogen stage hair follicles.	http://purl.obolibrary.org/obo/HP_0025470		
OBO:HP_0025471	Congenital panfollicular nevus	biolink:OntologyClass	hp		A hamartomatous proliferation containing malformed hair follicles in various stages of development. Panfolliculomas are well-circumscribed lesions demonstrating all stages of follicular differentiation.	http://purl.obolibrary.org/obo/HP_0025471		
OBO:HP_0025472	Recurrent plantar mycosis	biolink:OntologyClass	hp		A history of repeated fungal infections located on the sole of the foot, usually manifested by scaling, maceration, and itching.	http://purl.obolibrary.org/obo/HP_0025472		
OBO:HP_0025473	Hyperpigmented papule	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025473		
OBO:HP_0025474	Erythematous plaque	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025474		Violaceous plaque
OBO:HP_0025475	Erythematous macule	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025475		
OBO:HP_0025476	Testicular lipomatosis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025476		
OBO:HP_0025477	Periarticular calcification	biolink:OntologyClass	hp		Calcified deposits in soft tissue structures outside a joint.	http://purl.obolibrary.org/obo/HP_0025477		
OBO:HP_0025478	Atrial standstill	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025478		Silent atrium
OBO:HP_0025479	Self-neglect	biolink:OntologyClass	hp		Neglecting one's own needs and well-being.	http://purl.obolibrary.org/obo/HP_0025479		
OBO:HP_0025480	Lipomyelomeningocele	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025480		
OBO:HP_0025481	Cervical hemivertebrae	biolink:OntologyClass	hp		Absence of one half of the vertebral body in the cervical spine.	http://purl.obolibrary.org/obo/HP_0025481		
OBO:HP_0025482	Positive perchlorate discharge test	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025482		
OBO:HP_0025483	Abnormal circulating thyroglobulin level	biolink:OntologyClass	hp		A deviation from the normal concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones.	http://purl.obolibrary.org/obo/HP_0025483		
OBO:HP_0025484	Increased circulating thyroglobulin level	biolink:OntologyClass	hp		An abnormal elevation of the concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones.	http://purl.obolibrary.org/obo/HP_0025484		
OBO:HP_0025485	Vaginal adenosis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025485		
OBO:HP_0025486	Fused labia majora	biolink:OntologyClass	hp		The outer labia are sealed together.	http://purl.obolibrary.org/obo/HP_0025486		
OBO:HP_0025487	Abnormality of bladder morphology	biolink:OntologyClass	hp		Any structural anomaly of the bladder.	http://purl.obolibrary.org/obo/HP_0025487		
OBO:HP_0025488	Detrusor sphincter dyssynergia	biolink:OntologyClass	hp		A urodynamic anomaly characterized by bladder outlet obstruction from detrusor muscle contraction with concomitant involuntary urethral sphincter activation.	http://purl.obolibrary.org/obo/HP_0025488		
OBO:HP_0025489	Bladder duplication	biolink:OntologyClass	hp		A congenital anomaly characterized by the presence of two bladders.	http://purl.obolibrary.org/obo/HP_0025489		
OBO:HP_0025490	Myocardial bridging	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025490		Intramyocardial coronary artery course
OBO:HP_0025491	Venous stenosis	biolink:OntologyClass	hp		Narrowing of a vein due to intimal hyperplasia and fibrosis.	http://purl.obolibrary.org/obo/HP_0025491		
OBO:HP_0025492	Microcoria	biolink:OntologyClass	hp		A small pupil (typically diameter less than 2 mm) that dilates poorly or not at all in response to topically administered mydriatic drugs.	http://purl.obolibrary.org/obo/HP_0025492		
OBO:HP_0025493	Palmoplantar erythema	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025493		
OBO:HP_0025494	Coated aorta	biolink:OntologyClass	hp		Regular circumferential periaortic fibrosis involving the whole aorta and leading to a coated aorta appearance on computed tomography scans	http://purl.obolibrary.org/obo/HP_0025494		
OBO:HP_0025495	Descending aorta hypoplasia	biolink:OntologyClass	hp		Significant luminal narrowing of a long segment of the descending aorta.	http://purl.obolibrary.org/obo/HP_0025495		
OBO:HP_0025496	Abnormal coronary artery physiology	biolink:OntologyClass	hp		Any anomaly of the function of a coronary artery.	http://purl.obolibrary.org/obo/HP_0025496		
OBO:HP_0025497	Coronary artery spasm	biolink:OntologyClass	hp		A brief and sudden narrowing of a coronary artery.	http://purl.obolibrary.org/obo/HP_0025497		Coronary artery vasospasm
OBO:HP_0025498	Aceruloplasminemia	biolink:OntologyClass	hp		Absence of ceruloplasmin in the blood.	http://purl.obolibrary.org/obo/HP_0025498		Aceruloplasminaemia
OBO:HP_0025499	Class I obesity	biolink:OntologyClass	hp		Obesity with a body mass index of 30 to 34.9 kg per square meter.	http://purl.obolibrary.org/obo/HP_0025499		Obesity grade 1
OBO:HP_0025500	Class II obesity	biolink:OntologyClass	hp		Obesity with a body mass index of 35 to 39.9 kg per square meter.	http://purl.obolibrary.org/obo/HP_0025500		Obesity grade 2
OBO:HP_0025501	Class III obesity	biolink:OntologyClass	hp		Obesity with a body mass index of 40 kg per square meter or higher.	http://purl.obolibrary.org/obo/HP_0025501		Obesity grade 3
OBO:HP_0025502	Overweight	biolink:OntologyClass	hp		Increased body weight with a body mass index of 25-29.9 kg per square meter.	http://purl.obolibrary.org/obo/HP_0025502		
OBO:HP_0025503	Anomalous coronary artery arising from the opposite sinus	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025503		
OBO:HP_0025505	Anomalous origin of the circumflex artery from the right sinus of Valsalva	biolink:OntologyClass	hp		The circumflex coronary artery originates from the right aortic sinus of Valsalva.	http://purl.obolibrary.org/obo/HP_0025505		
OBO:HP_0025506	Coronary artery sandwich anomaly	biolink:OntologyClass	hp		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,	http://purl.obolibrary.org/obo/HP_0025506		Anomalous coronary artery with aortic origin and course between the great arteries
OBO:HP_0025507	Yellow papule	biolink:OntologyClass	hp		A papule with yellow color.	http://purl.obolibrary.org/obo/HP_0025507		Yellow-orange papule
OBO:HP_0025508	Gottron's papules	biolink:OntologyClass	hp		Violaceous papules overlying the dorsal and lateral aspects of the metacarpophalangeal and proximal interphalangeal joints.	http://purl.obolibrary.org/obo/HP_0025508		Gottron papules
OBO:HP_0025509	Piezogenic pedal papules	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025509		
OBO:HP_0025510	Nevus spilus	biolink:OntologyClass	hp		A tan, regularly bordered patch with darker macules within the lesion.	http://purl.obolibrary.org/obo/HP_0025510		Speckled lentiginous Nevus
OBO:HP_0025511	Nevus sebaceus	biolink:OntologyClass	hp		A solitary yellow-orange slightly raised plaque typically on scalp or face. The plaque typically thickens and becomes more verrucous or pebbly during childhood.	http://purl.obolibrary.org/obo/HP_0025511		
OBO:HP_0025512	Skin-colored papule	biolink:OntologyClass	hp		A papule with the same color as the surrounding skin.	http://purl.obolibrary.org/obo/HP_0025512		Flesh-colored papule
OBO:HP_0025513	Scleral rupture	biolink:OntologyClass	hp		Breakage of the sclera.	http://purl.obolibrary.org/obo/HP_0025513		
OBO:HP_0025514	Morning glory anomaly	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025514		Morning glory disc anomaly|Morning glory optic disc
OBO:HP_0025515	Delayed thelarche	biolink:OntologyClass	hp		Later than normal development of the breasts.	http://purl.obolibrary.org/obo/HP_0025515		
OBO:HP_0025516	Coronary-pulmonary artery fistula	biolink:OntologyClass	hp		A congenital malformation with abnormal connection between one of the coronary arteries and the pulmonary artery.	http://purl.obolibrary.org/obo/HP_0025516		
OBO:HP_0025517	Hypoplastic hippocampus	biolink:OntologyClass	hp		Underdevelopment of the hippocampus.	http://purl.obolibrary.org/obo/HP_0025517		Small hippocampus|Underdeveloped hippocampus
OBO:HP_0025518	Visual gaze preference	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025518		
OBO:HP_0025519	Multiple biliary hamartomas	biolink:OntologyClass	hp		Multiple biliary hamartomas are a rare clinicopathologic entity, consisting of small (less than 1.5cm), usually multiple and nodular cystic lesions in the liver.	http://purl.obolibrary.org/obo/HP_0025519		Multiple bile duct hamartomas|Von Meyenburg complexes|Biliary hamartoma
OBO:HP_0025520	Calcinosis cutis	biolink:OntologyClass	hp		Deposition of calcium in the skin.	http://purl.obolibrary.org/obo/HP_0025520		Cutaneous calcification
OBO:HP_0025521	Increased body fat percentage	biolink:OntologyClass	hp		The percentage of fat as a part of total body weight above the norm, usually defined as 32% for females and 25% for males.	http://purl.obolibrary.org/obo/HP_0025521		
OBO:HP_0025522	Elongated chordae tendinae of the mitral valve	biolink:OntologyClass	hp		Abnormal increased in length of the chordae tendinae of the mitral valve.	http://purl.obolibrary.org/obo/HP_0025522		
OBO:HP_0025523	Abnormal morphology of the chordae tendinae of the mitral valve	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025523		
OBO:HP_0025524	Palmoplantar scaling skin	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025524		Palmoplantar psoriasis
OBO:HP_0025525	Scaling skin on fingertip	biolink:OntologyClass	hp		Loss of the outer layer of the epidermis in large, scale-like flakes localized to one or more fingertips.	http://purl.obolibrary.org/obo/HP_0025525		
OBO:HP_0025526	Psoriasiform lesion	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025526		Psoriatic-like lesion|Erythemato-squamous plaque|Erythematosquamous plaque
OBO:HP_0025527	Serpiginous cutaneous lesion	biolink:OntologyClass	hp		A skin lesion with a snake- or serpent-like distribution.	http://purl.obolibrary.org/obo/HP_0025527		Serpiginous eruption
OBO:HP_0025528	Annular cutaneous lesion	biolink:OntologyClass	hp		A lesion of the skin with a ring-like distribution.	http://purl.obolibrary.org/obo/HP_0025528		
OBO:HP_0025529	Hyperpigmented nodule	biolink:OntologyClass	hp		A nodule of the skin that exhibits an increased amount of pigmentation.	http://purl.obolibrary.org/obo/HP_0025529		
OBO:HP_0025530	Xanthomas of the palmar creases	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025530		Xanthoma palmare striatum|Xanthoma striatum palmare
OBO:HP_0025531	Harlequin phenomenon	biolink:OntologyClass	hp		The Harlequin phenomenon consists of a sudden change in skin colour, resulting in two different body colours, one on each half of the body.	http://purl.obolibrary.org/obo/HP_0025531		
OBO:HP_0025532	Positive pathergy test	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025532		
OBO:HP_0025533	Peau d'orange	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0025533		
OBO:HP_0025534	Ocular melanocytosis	biolink:OntologyClass	hp		A congenital lesion of the sclera characterized by unilateral patchy but extensive slate-gray or bluish discoloration of the sclera . The conjunctiva are spared.	http://purl.obolibrary.org/obo/HP_0025534		Melanosis oculi|Ocular melanosis
OBO:HP_0025535	Shawl sign	biolink:OntologyClass	hp		Erythematous, poikilodermatous macules distributed in a shawl pattern over the shoulders, arms and upper back.	http://purl.obolibrary.org/obo/HP_0025535		
OBO:HP_0025536	V-sign	biolink:OntologyClass	hp		Erythematous, poikilodermatous macules distributed in a V-shaped distribution over the anterior neck and chest.	http://purl.obolibrary.org/obo/HP_0025536		
OBO:HP_0025537	Plantar edema	biolink:OntologyClass	hp		An abnormal accumulation of fluid beneath the skin on sole of the foot.	http://purl.obolibrary.org/obo/HP_0025537		Plantar oedema
OBO:HP_0025538	Palmar edema	biolink:OntologyClass	hp		An abnormal accumulation of fluid beneath the skin on the palm of the hand.	http://purl.obolibrary.org/obo/HP_0025538		Palmar oedema
OBO:HP_0025539	Abnormal B cell subset distribution	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0025539		
OBO:HP_0025540	Abnormal T cell subset distribution	biolink:OntologyClass	hp		Any abnormality in the proportion T cells subsets relative to the total number of T cells.	http://purl.obolibrary.org/obo/HP_0025540		
OBO:HP_0025541	obsolete Decreased activity of complement receptor	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0025541		
OBO:HP_0025546	Abnormal mean corpuscular hemoglobin concentration	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025546		Abnormal MCH|Abnormal MCHC|Abnormal mean corpuscular Hb concentration|Abnormal mean corpuscular haemoglobin|Abnormal mean corpuscular haemoglobin concentration
OBO:HP_0025547	Decreased mean corpuscular hemoglobin concentration	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025547		Decreased MCH|Decreased MCHC|Decreased mean corpuscular Hb concentration|Decreased mean corpuscular haemoglobin|Decreased mean corpuscular haemoglobin concentration
OBO:HP_0025548	Increased mean corpuscular hemoglobin concentration	biolink:OntologyClass	hp		An elevation over the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell).	http://purl.obolibrary.org/obo/HP_0025548		Increased MCH|Increased MCHC|Increased mean corpuscular Hb concentration|Increased mean corpuscular haemoglobin|Increased mean corpuscular haemoglobin concentration
OBO:HP_0025549	Eccentric visual fixation	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025549		Eccentric fixation
OBO:HP_0025550	Elevated circulating ribitol concentration	biolink:OntologyClass	hp		An increase above the normal concentration of ribitol in the blood.	http://purl.obolibrary.org/obo/HP_0025550		Increased level of ribitol in serum
OBO:HP_0025551	Optic nerve misrouting	biolink:OntologyClass	hp		Abnormal decussation of the visual pathways, typically identified using visual evoked potentials (VEP) (asymmetrical distribution of the VEP over the posterior scalp).	http://purl.obolibrary.org/obo/HP_0025551		Optic pathway misrouting|Visual pathway misrouting
OBO:HP_0025552	Periorbital purpura	biolink:OntologyClass	hp		Multiple red/purple spots on the skin that surrounds the eyes that do not blanch (whiten) upon pressure. Purpura is caused by subcutaneous bleeding.	http://purl.obolibrary.org/obo/HP_0025552		
OBO:HP_0025553	Periorbital ecchymosis with tarsal plate sparing	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025553		Raccoon eyes
OBO:HP_0025554	Yellow nodule	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0025554		
OBO:HP_0025555	Periungual teleangiectasia	biolink:OntologyClass	hp		Telangiectasia (small dilated blood vessels) located near to the fingernails or toenails.	http://purl.obolibrary.org/obo/HP_0025555		
OBO:HP_0025558	Lamellar cataract with riders	biolink:OntologyClass	hp		Lamellar cataracts with associated linear lens opacities radially extending towards the periphery of the lens.	http://purl.obolibrary.org/obo/HP_0025558		
OBO:HP_0025559	Coronary cataract	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025559		
OBO:HP_0025560	Anterior chamber cells	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025560		
OBO:HP_0025561	Anterior chamber cells grade 1+	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025561		
OBO:HP_0025562	Anterior chamber cells grade 0.5+	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025562		
OBO:HP_0025563	Anterior chamber cells grade 0	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025563		
OBO:HP_0025564	Anterior chamber cells grade 2+	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025564		
OBO:HP_0025565	Anterior chamber cells grade 3+	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025565		
OBO:HP_0025566	Anterior chamber cells grade 4+	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025566		
OBO:HP_0025567	Central serous chorioretinopathy	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025567		
OBO:HP_0025568	Abnormal morphology of the choroidal vasculature	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0025568		
OBO:HP_0025569	Polypoidal choroidal vasculopathy	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025569		
OBO:HP_0025570	Choroidal vascular hyperpermeability	biolink:OntologyClass	hp		Increased tendency of choiroidal blood vessels to allow fluids to leak characterized by multifocal choroidal hyperfluorescence on indocyanine green angiography (ICGA).	http://purl.obolibrary.org/obo/HP_0025570		Choroidal hyperpermeability
OBO:HP_0025571	Christmas tree cataract	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025571		
OBO:HP_0025572	Punctal stenosis	biolink:OntologyClass	hp		Punctal stenosis is a condition in which the external opening of the lacrimal canaliculus is narrowed or occluded.	http://purl.obolibrary.org/obo/HP_0025572		Lacrimal punctum stenosis|Stenosis of the lacrimal punctum
OBO:HP_0025573	Mild myopia	biolink:OntologyClass	hp		A mild form of myopia with up to -3.00 diopters.	http://purl.obolibrary.org/obo/HP_0025573		
OBO:HP_0025574	Macular hemorrhage	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0025574		Macular haemorrhage|Bleeding occurring within the macula lutea of the retina.
OBO:HP_0025575	Abnormal superior vena cava morphology	biolink:OntologyClass	hp	Fyler:2820	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.	http://purl.obolibrary.org/obo/HP_0025575		
OBO:HP_0025576	Abnormal inferior vena cava morphology	biolink:OntologyClass	hp	Fyler:2810	Any structural anomaly of the principal vein draining blood from the lower portion of the body.	http://purl.obolibrary.org/obo/HP_0025576		
OBO:HP_0025578	Aortic valve prolapse	biolink:OntologyClass	hp	Fyler:1452	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.	http://purl.obolibrary.org/obo/HP_0025578		
OBO:HP_0025579	Abnormal left atrium morphology	biolink:OntologyClass	hp	Fyler:3010	Any structural abnormality of the left atrium.	http://purl.obolibrary.org/obo/HP_0025579		
OBO:HP_0025580	Abnormal right atrium morphology	biolink:OntologyClass	hp	Fyler:1770	Any structural abnormality of the right atrium.	http://purl.obolibrary.org/obo/HP_0025580		
OBO:HP_0025581	Foveal hemorrhage	biolink:OntologyClass	hp		Bleeding occurring within the fovea.	http://purl.obolibrary.org/obo/HP_0025581		Foveal haemorrhage
OBO:HP_0025582	Submacular hemorrhage	biolink:OntologyClass	hp		Bleeding between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation.	http://purl.obolibrary.org/obo/HP_0025582		Submacular haemorrhage|Sub-macular hemorrhage
OBO:HP_0025583	Tapetal-like fundal reflex	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025583		
OBO:HP_0025584	Hypotropia	biolink:OntologyClass	hp		A form of manifest strabismus (heterotropia) in which one eye is deviated downwards when both eyes are open.	http://purl.obolibrary.org/obo/HP_0025584		
OBO:HP_0025585	Hyperphoria	biolink:OntologyClass	hp		Tendency for the visual axis of one eye to be higher than that of the other.	http://purl.obolibrary.org/obo/HP_0025585		
OBO:HP_0025586	Hypertropia	biolink:OntologyClass	hp		A type of strabismus characterized by permanent upward deviation of the visual axis of one eye.	http://purl.obolibrary.org/obo/HP_0025586		
OBO:HP_0025587	Hyperdeviation	biolink:OntologyClass	hp		A type of strabismus in which the visual axis of one eye is higher than that of the other.	http://purl.obolibrary.org/obo/HP_0025587		
OBO:HP_0025588	Hypodeviation	biolink:OntologyClass	hp		A type of strabismus in which the visual axis of one eye is lower than that of the other.	http://purl.obolibrary.org/obo/HP_0025588		
OBO:HP_0025589	Cyclodeviation	biolink:OntologyClass	hp		Cyclodeviation is defined as the rotation of an eyeball along the anteroposterior axis and cyclotropia as a misalignment of cyclodeviation between the two eyes.	http://purl.obolibrary.org/obo/HP_0025589		
OBO:HP_0025590	Abnormal extraocular muscle physiology	biolink:OntologyClass	hp		A functional anomaly of the muscles of the eye.	http://purl.obolibrary.org/obo/HP_0025590		
OBO:HP_0025591	Abnormal superior oblique muscle physiology	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025591		
OBO:HP_0025592	Superior oblique muscle weakness	biolink:OntologyClass	hp		Decreased strength of the superior oblique muscle.	http://purl.obolibrary.org/obo/HP_0025592		Superior oblique palsy
OBO:HP_0025593	Superior oblique muscle restriction	biolink:OntologyClass	hp		Mechanical limitation of the range of movement of the superior oblique muscle.	http://purl.obolibrary.org/obo/HP_0025593		
OBO:HP_0025594	Superior oblique muscle overaction	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025594		
OBO:HP_0025595	Superior oblique muscle underaction	biolink:OntologyClass	hp		Reduced ocular movement of the superior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy.	http://purl.obolibrary.org/obo/HP_0025595		Under-depression in adduction
OBO:HP_0025596	Abnormal inferior oblique muscle physiology	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025596		
OBO:HP_0025597	Inferior oblique muscle restriction	biolink:OntologyClass	hp		Mechanical limitation of the range of movement of the inferior oblique muscle.	http://purl.obolibrary.org/obo/HP_0025597		
OBO:HP_0025598	Inferior oblique muscle weakness	biolink:OntologyClass	hp		Decreased strength of the inferior oblique muscle.	http://purl.obolibrary.org/obo/HP_0025598		Inferior oblique palsy
OBO:HP_0025599	Inferior oblique muscle overaction	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025599		
OBO:HP_0025600	Abnormal inferior rectus muscle physiology	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025600		
OBO:HP_0025601	Inferior rectus muscle weakness	biolink:OntologyClass	hp		Decreased strength of the inferior rectus muscle.	http://purl.obolibrary.org/obo/HP_0025601		
OBO:HP_0025602	Inferior rectus muscle restriction	biolink:OntologyClass	hp		Mechanical limitation of the range of movement of the inferior rectus muscle.	http://purl.obolibrary.org/obo/HP_0025602		
OBO:HP_0025603	Abnormal superior rectus muscle physiology	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025603		
OBO:HP_0025604	Orbital schwannoma	biolink:OntologyClass	hp		A schwannoma (benign, usually encapsulated slow growing tumor composed of Schwann cells) located in the orbit.	http://purl.obolibrary.org/obo/HP_0025604		
OBO:HP_0025605	Lid lag on downgaze	biolink:OntologyClass	hp		Delayed descent of the upper eyelid on downgaze. Also described by some authors as von Graefe sign.	http://purl.obolibrary.org/obo/HP_0025605		Eyelid lag|Lid lag|von Graefe sign
OBO:HP_0025606	Abnormal medial rectus muscle physiology	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025606		
OBO:HP_0025607	Upper eyelid entropion	biolink:OntologyClass	hp		An inward turning (inversion) of the margin of the upper eyelid.	http://purl.obolibrary.org/obo/HP_0025607		
OBO:HP_0025608	Cicatricial ectropion	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025608		
OBO:HP_0025609	Anterior blepharitis	biolink:OntologyClass	hp		A type of blepharitis that affects the eyelid skin, base of the eyelashes, and the eyelash follicles.	http://purl.obolibrary.org/obo/HP_0025609		
OBO:HP_0025610	Posterior blepharitis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025610		Meibomian gland dysfunction|Meibomian gland disease
OBO:HP_0025611	Epicanthus superciliaris	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0025611		
OBO:HP_0025612	Corneal astigmatism	biolink:OntologyClass	hp		A type of refractive error related abnormal curvatures on the anterior or posterior surface of the cornea.	http://purl.obolibrary.org/obo/HP_0025612		
OBO:HP_0025613	Focal emotional seizure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025613		Affective seizure|Emotional seizure|Focal affective seizure|Partial emotional seizure
OBO:HP_0025615	Abscess	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0025615		
OBO:HP_0025616	Sterile abscess	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025616		
OBO:HP_0025617	Abnormal plasma cell count	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025617		
OBO:HP_0025618	Reduced plasma cell count	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025618		
OBO:HP_0025619	Elevated plasma cell count	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025619		
OBO:HP_0025620	Abnormal proportion of CD4+ central memory cells	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025620		Abnormal proportion of central memory CD4+, alpha-beta T cells
OBO:HP_0025621	obsolete Increased proportion of CD4+ central memory cells	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0025621		
OBO:HP_0025622	obsolete Decreased proportion of CD4+ central memory cells	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0025622		
OBO:HP_0025623	Abnormal proportion of CD4+ effector memory cells	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025623		Abnormal proportion of CD4-positive effector memory cells|Abnormal proportion of effector memory CD4-positive, alpha-beta T cells
OBO:HP_0025624	Reduced proportion of CD4+ effector memory T cells	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025624		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
OBO:HP_0025625	Elevated proportion of CD4+ effector memory T cells	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025625		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
OBO:HP_0025626	Increased circulating oleate level	biolink:OntologyClass	hp		An abnormally high concentration of oleic acid (oleate) in the blood circulation.	http://purl.obolibrary.org/obo/HP_0025626		
OBO:HP_0025627	Increased circulating octadecanoate level	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0025627		
OBO:HP_0025628	Increased circulating myristoleate level	biolink:OntologyClass	hp		An abnormally high concentration of myristoleate in the blood circulation.	http://purl.obolibrary.org/obo/HP_0025628		
OBO:HP_0025629	Anti-myelin-associated glycoprotein antibody positivity	biolink:OntologyClass	hp		The presence of autoantibodies (immunoglobulins) in the serum that react against myelin-associated glycoprotein (MAG).	http://purl.obolibrary.org/obo/HP_0025629		
OBO:HP_0025630	Argininosuccinic aciduria	biolink:OntologyClass	hp		Increased amount of argininosuccinate in the urine.	http://purl.obolibrary.org/obo/HP_0025630		
OBO:HP_0025631	Alpha-aminobutyric aciduria	biolink:OntologyClass	hp		Increased amount of alpha-aminobutyric acid in the urine.	http://purl.obolibrary.org/obo/HP_0025631		
OBO:HP_0025632	Reduced reactive oxygen species production in neutrophils	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0025632		
OBO:HP_0025633	Abnormal ureter morphology	biolink:OntologyClass	hp		A structural abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.	http://purl.obolibrary.org/obo/HP_0025633		
OBO:HP_0025634	Abnormal ureter physiology	biolink:OntologyClass	hp		A functional abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.	http://purl.obolibrary.org/obo/HP_0025634		
OBO:HP_0025635	Ureteral polyp	biolink:OntologyClass	hp	NCIT:C4530	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.	http://purl.obolibrary.org/obo/HP_0025635		Polyp of the ureter|Ureter polyp
OBO:HP_0025636	Endometritis	biolink:OntologyClass	hp		Inflammation of the inner lining of the uterus (endometrium).	http://purl.obolibrary.org/obo/HP_0025636		Endometrial inflammation.|Inflammation of the inner lining of the uterus
OBO:HP_0025637	Vasospasm	biolink:OntologyClass	hp		Narrowing of an artery due to constriction of the blood vessels.	http://purl.obolibrary.org/obo/HP_0025637		Angiospasm|Blood vessel spasm|Vascular spasm
OBO:HP_0025638	Elevated urinary N-butyrylglycine	biolink:OntologyClass	hp		An increased level of N-butyrylglycine in the urine.	http://purl.obolibrary.org/obo/HP_0025638		
OBO:HP_0025639	Increased urinary zinc level	biolink:OntologyClass	hp		An abnormally elevated amount of zinc in the urine, typically as assessed by a 24 hour urine collection.	http://purl.obolibrary.org/obo/HP_0025639		
OBO:HP_0025640	Abnormal urinary mineral level	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0025640		
OBO:HP_0025641	Elevated circulating glycolate concentration	biolink:OntologyClass	hp		An abnormally increased concentration of glycolate in the blood circulation.	http://purl.obolibrary.org/obo/HP_0025641		
OBO:HP_0025643	Tarlov cyst	biolink:OntologyClass	hp		A cerebrospinal fluid-filled nerve root cyst most often localized in the sacral spine.	http://purl.obolibrary.org/obo/HP_0025643		Perineural cyst
OBO:HP_0030000	EMG: repetitive nerve stimulation abnormality	biolink:OntologyClass	hp	UMLS:C4022681	Abnormality observed upon electromyography when nerve studied is electrically stimulated six to ten times at 2 or 3 Hertz.	http://purl.obolibrary.org/obo/HP_0030000		
OBO:HP_0030001	Lagopthalmos	biolink:OntologyClass	hp	UMLS:C4022680	A condition in which the eyelids do not close to cover the eye completely.	http://purl.obolibrary.org/obo/HP_0030001		Eyelids stay open|Inability to close the eyelids
OBO:HP_0030002	Nocturnal lagophthalmos	biolink:OntologyClass	hp	SNOMEDCT_US:417740005|UMLS:C1563118	The inability to close the eyelids during sleep.	http://purl.obolibrary.org/obo/HP_0030002		Eyelids stay open at night|Inability to close the eyelids at night
OBO:HP_0030003	Paralytic lagophthalmos	biolink:OntologyClass	hp	SNOMEDCT_US:59890007|UMLS:C0155197	A type of lagophthalmos that occurs in association with facial nerve palsy.	http://purl.obolibrary.org/obo/HP_0030003		
OBO:HP_0030004	Cicatricial lagophthalmos	biolink:OntologyClass	hp	SNOMEDCT_US:9042000|UMLS:C0155199	A type of lagophthalmos that occurs following trauma or surgery.	http://purl.obolibrary.org/obo/HP_0030004		Eyelids stay open due to scarring|Inability to close the eyelids due to scarring
OBO:HP_0030005	Capillary leak	biolink:OntologyClass	hp	MSH:D019559|SNOMEDCT_US:1608005|SNOMEDCT_US:87730004|UMLS:C0343084|UMLS:C1382398	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.	http://purl.obolibrary.org/obo/HP_0030005		Increased capillary permeability|Systemic capillary leak syndrome
OBO:HP_0030006	Single fiber EMG abnormality	biolink:OntologyClass	hp	UMLS:C4022679	Abnormality in single fiber EMG recording, a technique that allows identification of action potentials (APs) from individual muscle fibers.	http://purl.obolibrary.org/obo/HP_0030006		Single fibre EMG abnormality
OBO:HP_0030007	EMG: positive sharp waves	biolink:OntologyClass	hp	SNOMEDCT_US:251527008|UMLS:C0429349	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.	http://purl.obolibrary.org/obo/HP_0030007		
OBO:HP_0030008	Cervical agenesis	biolink:OntologyClass	hp	SNOMEDCT_US:37687000|UMLS:C0266404	Congenital absence of the cervix.	http://purl.obolibrary.org/obo/HP_0030008		Absent cervix|Aplasia of the cervix|Cervical aplasia
OBO:HP_0030009	Cervical insufficiency	biolink:OntologyClass	hp	MSH:D002581|SNOMEDCT_US:17382005|UMLS:C0007871	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	http://purl.obolibrary.org/obo/HP_0030009		Incompetent cervix
OBO:HP_0030010	Hydrometrocolpos	biolink:OntologyClass	hp	SNOMEDCT_US:60023006|UMLS:C0269209	Hydrometrocolpos is an accumulation of uterine and vaginal secretions as well as menstrual blood in the uterus and vagina.	http://purl.obolibrary.org/obo/HP_0030010		
OBO:HP_0030011	Imperforate hymen	biolink:OntologyClass	hp	MSH:C562397|SNOMEDCT_US:65937002|UMLS:C0152436	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.	http://purl.obolibrary.org/obo/HP_0030011		
OBO:HP_0030012	Abnormal female reproductive system physiology	biolink:OntologyClass	hp	UMLS:C4020714|UMLS:C4022678		http://purl.obolibrary.org/obo/HP_0030012		Abnormal female reproductive system physiology|Abnormal female genital system physiology
OBO:HP_0030013	obsolete Endometriosis	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0030013		
OBO:HP_0030014	Female sexual dysfunction	biolink:OntologyClass	hp	UMLS:C1112442	A problem occurring during any phase of the female sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity	http://purl.obolibrary.org/obo/HP_0030014		
OBO:HP_0030015	Female anorgasmia	biolink:OntologyClass	hp	SNOMEDCT_US:60103007|UMLS:C0033948|UMLS:C4022677	The persistent of recurrent difficulty, delay in, or absence of attaining orgasm following sufficient sexual stimulation and arousal.	http://purl.obolibrary.org/obo/HP_0030015		Female orgasmic disorder
OBO:HP_0030016	Dyspareunia	biolink:OntologyClass	hp	MSH:D004414|SNOMEDCT_US:71315007|UMLS:C1384606	Recurrent or persistent genital pain associated with sexual intercourse.	http://purl.obolibrary.org/obo/HP_0030016		
OBO:HP_0030017	Vaginismus	biolink:OntologyClass	hp	MSH:D052065|SNOMEDCT_US:79012001|UMLS:C2004487	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.	http://purl.obolibrary.org/obo/HP_0030017		Myalgia of pelvic floor|Pelvic floor myalgia
OBO:HP_0030018	Decreased female libido	biolink:OntologyClass	hp	UMLS:C4022676	Dminished sexual desire in female.	http://purl.obolibrary.org/obo/HP_0030018		Decreased female sex drive
OBO:HP_0030019	Increased female libido	biolink:OntologyClass	hp	UMLS:C4022675	Elevated sexual desire in female	http://purl.obolibrary.org/obo/HP_0030019		Increased female sex drive
OBO:HP_0030021	Auricular tag	biolink:OntologyClass	hp	UMLS:C4022674	Small protrusion within the pinna.	http://purl.obolibrary.org/obo/HP_0030021		
OBO:HP_0030022	Question mark ear	biolink:OntologyClass	hp	UMLS:C3888103	Cleft between the helix and the lobe.	http://purl.obolibrary.org/obo/HP_0030022		Question mark ear|Question mark ears|Constricted ear|Cosman ear
OBO:HP_0030023	Quelprud nodule	biolink:OntologyClass	hp	UMLS:C4022673	Small cartilaginous prominence on the posterior concha.	http://purl.obolibrary.org/obo/HP_0030023		
OBO:HP_0030024	Pretragal ectopia	biolink:OntologyClass	hp	SNOMEDCT_US:204245004|UMLS:C0266609	Variably shaped, cartilage-containing tissue anterior to the external auditory meatus.	http://purl.obolibrary.org/obo/HP_0030024		Extra cartilage in front of the ear|Accessory Tragus|Pretragal Duplication
OBO:HP_0030025	Auricular pit	biolink:OntologyClass	hp	UMLS:C4022672	Small indentation in the lower part of the ascending helix, concha, or in the crus helix.	http://purl.obolibrary.org/obo/HP_0030025		
OBO:HP_0030026	Squared superior portion of helix	biolink:OntologyClass	hp	UMLS:C4022671	Flattening instead of curving or rounded superior helix, allowing the superior helix to run more horizontally than usual.	http://purl.obolibrary.org/obo/HP_0030026		
OBO:HP_0030027	Abnormality of the nasal cartilage	biolink:OntologyClass	hp	UMLS:C4022670	A morphological anomaly of the nasal cartilage.	http://purl.obolibrary.org/obo/HP_0030027		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
OBO:HP_0030028	Absent nasal cartilage	biolink:OntologyClass	hp	MSH:C562753|SNOMEDCT_US:232381002|UMLS:C4022669|UMLS:C4082198	Lack of a palpable nasal cartilage.	http://purl.obolibrary.org/obo/HP_0030028		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
OBO:HP_0030029	Splayed fingers	biolink:OntologyClass	hp	UMLS:C4021057	Divergence of digits along the A/P axis (in the plane of the palm).	http://purl.obolibrary.org/obo/HP_0030029		Splayed fingers|Spreading of the fingers
OBO:HP_0030030	Absent ray	biolink:OntologyClass	hp	UMLS:C4022668	The absence of all phalanges of a digit and the associated metacarpal /metatarsal.	http://purl.obolibrary.org/obo/HP_0030030		
OBO:HP_0030031	Small toe	biolink:OntologyClass	hp	UMLS:C4022667	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.	http://purl.obolibrary.org/obo/HP_0030031		Small toe
OBO:HP_0030032	Partial absence of foot	biolink:OntologyClass	hp	UMLS:C4022666	An incomplete absence of the foot, with no bony elements distal to the tarsals, but with preservation of some or all of the tarsals.	http://purl.obolibrary.org/obo/HP_0030032		Partial absence of foot
OBO:HP_0030033	Small finger	biolink:OntologyClass	hp	SNOMEDCT_US:299058009|UMLS:C0575827	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.	http://purl.obolibrary.org/obo/HP_0030033		Small finger
OBO:HP_0030034	Glomerular basement membrane lamellation	biolink:OntologyClass	hp	UMLS:C3278307	Presence of abnormal additional layers of the basement membrane of the glomerulus.	http://purl.obolibrary.org/obo/HP_0030034		Lamellated/basket-woven thickened glomerular basement membranes|Lamellation of the glomerular basement membrane
OBO:HP_0030035	Struvite nephrolithiasis	biolink:OntologyClass	hp	UMLS:C4021056	Presence of struvite (magnesium ammonium phosphate) containing calculi (kidney stones).	http://purl.obolibrary.org/obo/HP_0030035		Struvite kidney stones
OBO:HP_0030036	Isothenuria	biolink:OntologyClass	hp	UMLS:C4022665	Inability of the kidneys to produce either concentrated or dilute urine.	http://purl.obolibrary.org/obo/HP_0030036		
OBO:HP_0030037	Bifid ureter	biolink:OntologyClass	hp	UMLS:C3887498	Incomplete duplication of the ureter.	http://purl.obolibrary.org/obo/HP_0030037		
OBO:HP_0030038	Enchondroma	biolink:OntologyClass	hp	MSH:D002812|SNOMEDCT_US:31186001|SNOMEDCT_US:423699002|UMLS:C1704356	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.	http://purl.obolibrary.org/obo/HP_0030038		
OBO:HP_0030039	Fused thoracic vertebrae	biolink:OntologyClass	hp	UMLS:C4022664	A congenital anomaly characterized by a joining (fusion) of two or more thoracic vertebral bodies with one another.	http://purl.obolibrary.org/obo/HP_0030039		
OBO:HP_0030040	Fused lumbar vertebrae	biolink:OntologyClass	hp	UMLS:C4022663	A congenital anomaly characterized by a joining (fusion) of two or more lumbar vertebral bodies with one another.	http://purl.obolibrary.org/obo/HP_0030040		
OBO:HP_0030041	Schmorl's node	biolink:OntologyClass	hp	SNOMEDCT_US:45181002|UMLS:C0410632	A Schmorl's node is the herniation of nucleus pulposus through the cartilaginous and bony end plate into the body of the adjacent vertebra.	http://purl.obolibrary.org/obo/HP_0030041		Schmorl's nodes
OBO:HP_0030042	Incomplete ossification of pubis	biolink:OntologyClass	hp	SNOMEDCT_US:373940002|UMLS:C0685678	Failure to complete ossification (maturation and calcification) of the pubic bone.	http://purl.obolibrary.org/obo/HP_0030042		Incomplete maturation of the pubic bone
OBO:HP_0030043	Hip subluxation	biolink:OntologyClass	hp	SNOMEDCT_US:263057000|UMLS:C0434785	A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket.	http://purl.obolibrary.org/obo/HP_0030043		Partial hip dislocation|Subluxation involving the hip joint
OBO:HP_0030044	Flexion contracture of digit	biolink:OntologyClass	hp	UMLS:C1839864	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.	http://purl.obolibrary.org/obo/HP_0030044		
OBO:HP_0030045	Serpentine fibula	biolink:OntologyClass	hp	UMLS:C3805325	Elongated curved (S-shaped) fibulae.	http://purl.obolibrary.org/obo/HP_0030045		S-shaped calf bone
OBO:HP_0030046	Hypoglycosylation of alpha-dystroglycan	biolink:OntologyClass	hp	UMLS:C4015098	A reduction in the degree of glycosylation of alpha-dystroglycan in muscle tissue.	http://purl.obolibrary.org/obo/HP_0030046		
OBO:HP_0030047	Abnormality of lateral ventricle	biolink:OntologyClass	hp	UMLS:C4022662	A morphological anomaly of the lateral ventricle.	http://purl.obolibrary.org/obo/HP_0030047		
OBO:HP_0030048	Colpocephaly	biolink:OntologyClass	hp	MSH:C535973|SNOMEDCT_US:253160006|UMLS:C0431384	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.	http://purl.obolibrary.org/obo/HP_0030048		
OBO:HP_0030049	Brain abscess	biolink:OntologyClass	hp	MSH:D001922|SNOMEDCT_US:441806004|UMLS:C0006105	A collection of pus, immune cells, and other material in the brain.	http://purl.obolibrary.org/obo/HP_0030049		Brain abscess
OBO:HP_0030050	Narcolepsy	biolink:OntologyClass	hp	MSH:D009290|SNOMEDCT_US:60380001|UMLS:C0027404	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.	http://purl.obolibrary.org/obo/HP_0030050		
OBO:HP_0030051	Tip-toe gait	biolink:OntologyClass	hp	UMLS:C1843570	An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait.	http://purl.obolibrary.org/obo/HP_0030051		Walking on tiptoes
OBO:HP_0030052	Inguinal freckling	biolink:OntologyClass	hp	UMLS:C1834297	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.	http://purl.obolibrary.org/obo/HP_0030052		Freckles in groin region
OBO:HP_0030053	Stiff skin	biolink:OntologyClass	hp	UMLS:C3276815	An induration (hardening) of the skin	http://purl.obolibrary.org/obo/HP_0030053		Stiff skin|Indurated skin
OBO:HP_0030054	Perifollicular fibrosis	biolink:OntologyClass	hp	UMLS:C2748531	Presence of excess fibrous connective tissue surrounding hair follicules.	http://purl.obolibrary.org/obo/HP_0030054		
OBO:HP_0030055	Hyperconvex toenail	biolink:OntologyClass	hp	UMLS:C4022661	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.	http://purl.obolibrary.org/obo/HP_0030055		
OBO:HP_0030056	Uncombable hair	biolink:OntologyClass	hp	UMLS:C1860607	Hair that is disorderly, stands out from the scalp, and cannot be combed flat.	http://purl.obolibrary.org/obo/HP_0030056		Uncombable hair
OBO:HP_0030057	Autoimmune antibody positivity	biolink:OntologyClass	hp	UMLS:C4022660	The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues.	http://purl.obolibrary.org/obo/HP_0030057		
OBO:HP_0030058	Sickled erythrocytes	biolink:OntologyClass	hp	UMLS:C2237347	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).	http://purl.obolibrary.org/obo/HP_0030058		
OBO:HP_0030059	Mitochondrial depletion	biolink:OntologyClass	hp	UMLS:C4022659	An abnormal reduction in mitochondrial DNA content of cells.	http://purl.obolibrary.org/obo/HP_0030059		
OBO:HP_0030060	Nervous tissue neoplasm	biolink:OntologyClass	hp	MSH:D009380|UMLS:C0027665	A neoplasm derived from nervous tissue (not necessarily a neoplasm located in the nervous system).	http://purl.obolibrary.org/obo/HP_0030060		
OBO:HP_0030061	Neuroectodermal neoplasm	biolink:OntologyClass	hp	MSH:D017599|SNOMEDCT_US:253096008|SNOMEDCT_US:73676002|UMLS:C0206093	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.	http://purl.obolibrary.org/obo/HP_0030061		
OBO:HP_0030062	Craniopharyngioma	biolink:OntologyClass	hp	MSH:D003397|SNOMEDCT_US:189179009|SNOMEDCT_US:40009002|UMLS:C0010276	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.	http://purl.obolibrary.org/obo/HP_0030062		
OBO:HP_0030063	Neuroepithelial neoplasm	biolink:OntologyClass	hp	MSH:D018302|UMLS:C0206715	A neoplasm composed of neural epithelium, not necessarily a neoplasm located in the neural epithelium or neuroepithelium.	http://purl.obolibrary.org/obo/HP_0030063		
OBO:HP_0030064	Neurocytoma	biolink:OntologyClass	hp	MSH:D018306|SNOMEDCT_US:128858006|UMLS:C1622510	A benign brain tumor composed of neural elements which most often arise from the septum pellucidum and the walls of the lateral ventricles.	http://purl.obolibrary.org/obo/HP_0030064		
OBO:HP_0030065	Primitive neuroectodermal tumor	biolink:OntologyClass	hp	MSH:D018242|SNOMEDCT_US:39781001|SNOMEDCT_US:55045006|SNOMEDCT_US:699028006|UMLS:C0206663	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.	http://purl.obolibrary.org/obo/HP_0030065		Primitive neuroectodermal tumour
OBO:HP_0030066	Ependymoblastoma	biolink:OntologyClass	hp	MSH:D018242|SNOMEDCT_US:21589007|SNOMEDCT_US:715901002|UMLS:C0700367	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.	http://purl.obolibrary.org/obo/HP_0030066		
OBO:HP_0030067	Peripheral primitive neuroectodermal neoplasm	biolink:OntologyClass	hp	MSH:D018241|SNOMEDCT_US:253096008|SNOMEDCT_US:703707001|SNOMEDCT_US:73676002|UMLS:C0684337	A primitive neuroectodermal neoplasm that occurs extracranially in soft tissue and bone.	http://purl.obolibrary.org/obo/HP_0030067		
OBO:HP_0030068	Olfactory esthesioneuroblastoma	biolink:OntologyClass	hp	MSH:D018304|SNOMEDCT_US:422886007|SNOMEDCT_US:68614005|SNOMEDCT_US:76060004|UMLS:C0206717	A malignant olfactory neuroblastoma arising from the olfactory epithelium of the superior nasal cavity and cribriform plate.	http://purl.obolibrary.org/obo/HP_0030068		
OBO:HP_0030069	Primary central nervous system lymphoma	biolink:OntologyClass	hp	SNOMEDCT_US:21964009|SNOMEDCT_US:307649006|UMLS:C0280803	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.	http://purl.obolibrary.org/obo/HP_0030069		Primary CNS lymphoma
OBO:HP_0030070	Central primitive neuroectodermal tumor	biolink:OntologyClass	hp	SNOMEDCT_US:39781001|UMLS:C3887678	A primitive neuroectodermal neoplasm that occurs in the central nervous system.	http://purl.obolibrary.org/obo/HP_0030070		Central primitive neuroectodermal tumour
OBO:HP_0030071	Medulloepithelioma	biolink:OntologyClass	hp	MSH:D018242|SNOMEDCT_US:39005004|SNOMEDCT_US:715903004|UMLS:C0334596	A primitive neuroectodermal tumor that originates from the cells of the embryonic medullary canal.	http://purl.obolibrary.org/obo/HP_0030071		
OBO:HP_0030072	Paranasal sinus neoplasm	biolink:OntologyClass	hp	MSH:D010255|NCIT:C3262|SNOMEDCT_US:126675008|UMLS:C0030470	A tumor that originates in the paranasal sinus.	http://purl.obolibrary.org/obo/HP_0030072		Neoplasm of the paranasal sinuses|Tumor of the paranasal sinuses
OBO:HP_0030073	obsolete Pharyngeal neoplasm	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0030073		
OBO:HP_0030074	Chemodectoma	biolink:OntologyClass	hp	MSH:D002345|SNOMEDCT_US:127028003|SNOMEDCT_US:30699005|UMLS:C0007279	A usually benign neoplasm originating in the chemoreceptor tissue of the carotid body, glomus jugulare, glomus tympanicum, aortic bodies, or the female genital tract.	http://purl.obolibrary.org/obo/HP_0030074		Chemodectomas
OBO:HP_0030075	Ductal carcinoma in situ	biolink:OntologyClass	hp	MSH:D002285|SNOMEDCT_US:109889007|SNOMEDCT_US:278053004|SNOMEDCT_US:373176000|SNOMEDCT_US:86616005|UMLS:C0007124	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.	http://purl.obolibrary.org/obo/HP_0030075		
OBO:HP_0030076	Lobular carcinoma in situ	biolink:OntologyClass	hp	MSH:D000071960|SNOMEDCT_US:109888004|UMLS:C0279563		http://purl.obolibrary.org/obo/HP_0030076		
OBO:HP_0030077	Bronchial neoplasm	biolink:OntologyClass	hp	MSH:D001984|NCIT:C3262|SNOMEDCT_US:126705004|UMLS:C0006264	A tumor originating in a bronchus.	http://purl.obolibrary.org/obo/HP_0030077		
OBO:HP_0030078	Lung adenocarcinoma	biolink:OntologyClass	hp	MSH:C538231|NCIT:C2852|SNOMEDCT_US:254626006|UMLS:C0152013		http://purl.obolibrary.org/obo/HP_0030078		
OBO:HP_0030079	Cervix cancer	biolink:OntologyClass	hp	MSH:D002583|NCIT:C3262|SNOMEDCT_US:363354003|UMLS:C4048328	A tumor of the uterine cervix.	http://purl.obolibrary.org/obo/HP_0030079		
OBO:HP_0030080	Burkitt lymphoma	biolink:OntologyClass	hp	MSH:D002051|SNOMEDCT_US:118617000|SNOMEDCT_US:22197008|SNOMEDCT_US:277571004|SNOMEDCT_US:397400006|SNOMEDCT_US:77381001|UMLS:C0006413	A form of undifferentiated malignant lymphoma commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass.	http://purl.obolibrary.org/obo/HP_0030080		
OBO:HP_0030081	Punctate periventricular T2 hyperintense foci	biolink:OntologyClass	hp	UMLS:C4022658	Multiple pointlike areas of high T2 signal observed upon magnetic resonance imaging of the periventricular cerebral white matter.	http://purl.obolibrary.org/obo/HP_0030081		
OBO:HP_0030082	Abnormal drinking behavior	biolink:OntologyClass	hp	UMLS:C4022657	Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption.	http://purl.obolibrary.org/obo/HP_0030082		Abnormal drinking behavior|Abnormal drinking behaviour
OBO:HP_0030083	Salt craving	biolink:OntologyClass	hp	UMLS:C0240928	An excessive desire to eat salt (sodium chloride) or salty foods.	http://purl.obolibrary.org/obo/HP_0030083		Salt craving
OBO:HP_0030084	Clinodactyly	biolink:OntologyClass	hp	SNOMEDCT_US:17268007|UMLS:C0265610|UMLS:C4280304	An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).	http://purl.obolibrary.org/obo/HP_0030084		Curvature of digit|Permanent curving of the finger
OBO:HP_0030085	Abnormal CSF lactate level	biolink:OntologyClass	hp	UMLS:C4022656	Abnormal concentration of lactate in the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0030085		
OBO:HP_0030086	Reduced CSF lactate	biolink:OntologyClass	hp	UMLS:C4022655	Decreased concentration of lactate in the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0030086		Hypolactatorachia
OBO:HP_0030087	Abnormal serum testosterone level	biolink:OntologyClass	hp	SNOMEDCT_US:166458009|UMLS:C0580454|UMLS:C4022654	An anomalous concentration of testosterone in the blood.	http://purl.obolibrary.org/obo/HP_0030087		Abnormal testosterone level
OBO:HP_0030088	Increased serum testosterone level	biolink:OntologyClass	hp	UMLS:C0241358|UMLS:C4072885	An elevated circulating testosterone level in the blood.	http://purl.obolibrary.org/obo/HP_0030088		Increased testosterone|High serum testosterone level|High serum testosterone levels|Increased serum testosterone levels
OBO:HP_0030089	Abnormal muscle fiber protein expression	biolink:OntologyClass	hp	UMLS:C4022653	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.	http://purl.obolibrary.org/obo/HP_0030089		Abnormal muscle fibre protein expression
OBO:HP_0030090	Abnormal muscle fiber merosin expression	biolink:OntologyClass	hp	UMLS:C4022652	An anomalous amount of merosin in muscle fibers. Merosin is a basement membrane-associated protein found in placenta, striated muscle, and peripheral nerve.	http://purl.obolibrary.org/obo/HP_0030090		Abnormal muscle fibre merosin expression
OBO:HP_0030091	Absent muscle fiber merosin	biolink:OntologyClass	hp	UMLS:C4021055	Lack of merosin protein in the muscle biopsy.	http://purl.obolibrary.org/obo/HP_0030091		Absent muscle fibre merosin|Absent merosin staining in muscle biopsy|Absent muscle fiber laminin alpha 2
OBO:HP_0030092	Reduced muscle fiber merosin	biolink:OntologyClass	hp	UMLS:C4022651	A reduced amount of merosin in muscle fibers. This feature is usually assessed by immunohistochemical examination of muscle biopsy tissue.	http://purl.obolibrary.org/obo/HP_0030092		Reduced muscle fibre merosin
OBO:HP_0030093	Abnormal muscle fiber laminin beta 1	biolink:OntologyClass	hp	UMLS:C4022650	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.	http://purl.obolibrary.org/obo/HP_0030093		Abnormal muscle fibre laminin beta 1
OBO:HP_0030094	Reduced muscle fiber laminin beta 1	biolink:OntologyClass	hp	UMLS:C4022649	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.	http://purl.obolibrary.org/obo/HP_0030094		Reduced muscle fibre laminin beta 1
OBO:HP_0030095	Reduced muscle collagen VI	biolink:OntologyClass	hp	UMLS:C4021054	A decreased amount of collagen VI in muscle tissue. Collagen VI is a primarily associated with the extracellular matrix of skeletal muscle.	http://purl.obolibrary.org/obo/HP_0030095		Reduced collagen 6 in muscle
OBO:HP_0030096	Abnormal muscle fiber dystrophin expression	biolink:OntologyClass	hp	UMLS:C4022648	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.	http://purl.obolibrary.org/obo/HP_0030096		Abnormal muscle fibre dystrophin expression
OBO:HP_0030097	Absent muscle dystrophin expression	biolink:OntologyClass	hp	UMLS:C4022647	Lack of dystrophin in muscle tissue. Immunohistochemistry reveals absent dystrophin protein in the muscle biopsy.	http://purl.obolibrary.org/obo/HP_0030097		
OBO:HP_0030098	Reduced muscle dystrophin expression	biolink:OntologyClass	hp	UMLS:C4021053	A decreased amount of dystrophin in muscle fiber tissue.	http://purl.obolibrary.org/obo/HP_0030098		Reduced dystrophin staining in muscle
OBO:HP_0030099	Reduced muscle fiber alpha dystroglycan	biolink:OntologyClass	hp	UMLS:C4022646	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.	http://purl.obolibrary.org/obo/HP_0030099		Reduced muscle fibre alpha dystroglycan
OBO:HP_0030100	Abnormal muscle fiber alpha sarcoglycan	biolink:OntologyClass	hp	UMLS:C4022645	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.	http://purl.obolibrary.org/obo/HP_0030100		Abnormal muscle fibre alpha sarcoglycan
OBO:HP_0030101	Absent muscle fiber alpha sarcoglycan	biolink:OntologyClass	hp	UMLS:C4022644	Lack of alpha sarcoglycan in muscle. Immunohistochemistry reveals absent alpha sarcoglycan protein in the muscle biopsy.	http://purl.obolibrary.org/obo/HP_0030101		Absent muscle fibre alpha sarcoglycan
OBO:HP_0030102	Reduced muscle fiber alpha sarcoglycan	biolink:OntologyClass	hp	UMLS:C4022643	A decreased amount of alpha sarcoglycan in muscle. Immunohistochemistry reveals reduced alpha sarcoglycan protein in the muscle biopsy.	http://purl.obolibrary.org/obo/HP_0030102		Reduced muscle fibre alpha sarcoglycan
OBO:HP_0030103	Abnormal muscle fiber beta sarcoglycan	biolink:OntologyClass	hp	UMLS:C4022642	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.	http://purl.obolibrary.org/obo/HP_0030103		Abnormal muscle fibre beta sarcoglycan
OBO:HP_0030104	Abnormal muscle fiber gamma sarcoglycan	biolink:OntologyClass	hp	UMLS:C4022641	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.	http://purl.obolibrary.org/obo/HP_0030104		Abnormal muscle fibre gamma sarcoglycan
OBO:HP_0030105	Abnormal muscle fiber delta sarcoglycan	biolink:OntologyClass	hp	UMLS:C4022640	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.	http://purl.obolibrary.org/obo/HP_0030105		Abnormal muscle fibre delta sarcoglycan
OBO:HP_0030106	Absent muscle fiber beta sarcoglycan	biolink:OntologyClass	hp	UMLS:C4022639	Immunohistochemistry shows complete lack of beta sarcoglycan protein in the muscle biopsy.	http://purl.obolibrary.org/obo/HP_0030106		Absent muscle fibre beta sarcoglycan
OBO:HP_0030107	Reduced muscle fiber beta sarcoglycan	biolink:OntologyClass	hp	UMLS:C4022638	Immunohistochemistry reveals reduced beta sarcoglycan protein in the muscle biopsy.	http://purl.obolibrary.org/obo/HP_0030107		Reduced muscle fibre beta sarcoglycan
OBO:HP_0030108	Reduced muscle fiber gamma sarcoglycan	biolink:OntologyClass	hp	UMLS:C4022637	Immunohistochemistry reveals reduced gamma sarcoglycan protein in the muscle biopsy.	http://purl.obolibrary.org/obo/HP_0030108		Reduced muscle fibre gamma sarcoglycan
OBO:HP_0030109	Absent muscle fiber gamma sarcoglycan	biolink:OntologyClass	hp	UMLS:C4022636	Immunohistochemistry shows complete lack of gamma sarcoglycan protein in the muscle biopsy.	http://purl.obolibrary.org/obo/HP_0030109		Absent muscle fibre gamma sarcoglycan
OBO:HP_0030110	Absent muscle fiber delta sarcoglycan	biolink:OntologyClass	hp	UMLS:C4022635	Immunohistochemistry shows complete lack of delta sarcoglycan protein in the muscle biopsy.	http://purl.obolibrary.org/obo/HP_0030110		Absent muscle fibre delta sarcoglycan
OBO:HP_0030111	Reduced muscle fiber delta sarcoglycan	biolink:OntologyClass	hp	UMLS:C4022634	Abnormally reduced amount of delta sarcoglycan in muscle.	http://purl.obolibrary.org/obo/HP_0030111		Reduced muscle fibre delta sarcoglycan
OBO:HP_0030112	Abnormal muscle fiber alpha dystroglycan	biolink:OntologyClass	hp	UMLS:C4022633	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.	http://purl.obolibrary.org/obo/HP_0030112		Abnormal muscle fibre alpha dystroglycan
OBO:HP_0030113	Abnormal muscle fiber dysferlin	biolink:OntologyClass	hp	UMLS:C4022632	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.	http://purl.obolibrary.org/obo/HP_0030113		Abnormal muscle fibre dysferlin
OBO:HP_0030114	Absent muscle fiber dysferlin	biolink:OntologyClass	hp	UMLS:C4022631	Immunohistochemistry shows complete lack of dysferlin protein in the muscle biopsy.	http://purl.obolibrary.org/obo/HP_0030114		Absent muscle fibre dysferlin
OBO:HP_0030115	Reduced muscle fiber dysferlin	biolink:OntologyClass	hp	UMLS:C4022630	Immunohistochemistry reveals reduced dysferlin protein in the muscle biopsy.	http://purl.obolibrary.org/obo/HP_0030115		Reduced muscle fibre dysferlin
OBO:HP_0030116	Abnormal muscle fiber emerin	biolink:OntologyClass	hp	UMLS:C4022629	A deviation from normal of the amount of the inner nuclear membrane protein emerin in muscle tissue.	http://purl.obolibrary.org/obo/HP_0030116		Abnormal muscle fibre emerin
OBO:HP_0030117	Absent muscle fiber emerin	biolink:OntologyClass	hp	UMLS:C4022628	Immunohistochemistry shows complete lack of emerin protein in the muscle biopsy.	http://purl.obolibrary.org/obo/HP_0030117		Absent muscle fibre emerin
OBO:HP_0030118	Reduced muscle fiber emerin	biolink:OntologyClass	hp	UMLS:C4022627	Immunohistochemistry reveals reduced emerin protein in the muscle biopsy.	http://purl.obolibrary.org/obo/HP_0030118		Reduced muscle fibre emerin
OBO:HP_0030119	Abnormal muscle fiber calpain-3	biolink:OntologyClass	hp	UMLS:C4022626	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.	http://purl.obolibrary.org/obo/HP_0030119		Abnormal muscle fibre calpain-3
OBO:HP_0030120	Absent muscle fiber calpain-3	biolink:OntologyClass	hp	UMLS:C4022625	Western blot shows complete lack of calpain-3 protein in the muscle biopsy tissue.	http://purl.obolibrary.org/obo/HP_0030120		Absent muscle fibre calpain-3
OBO:HP_0030121	Reduced muscle fiber calpain-3	biolink:OntologyClass	hp	UMLS:C4022624	Western blot reveals reduced calpain-3 protein in the muscle biopsy tissue.	http://purl.obolibrary.org/obo/HP_0030121		Reduced muscle fibre calpain-3
OBO:HP_0030122	Reduced muscle fiber perlecan	biolink:OntologyClass	hp	UMLS:C4022623	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).	http://purl.obolibrary.org/obo/HP_0030122		Reduced muscle fibre perlecan
OBO:HP_0030123	Abnormal muscle fiber lamin A/C	biolink:OntologyClass	hp	UMLS:C4022622	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.	http://purl.obolibrary.org/obo/HP_0030123		Abnormal muscle fibre lamin A/C
OBO:HP_0030124	Reduced muscle fiber lamin A/C	biolink:OntologyClass	hp	UMLS:C4022621	A decreased amount of lamin A/C in muscle tissue. This feature can be shown by immunohistochemistry of Western blotting of muscle tissue.	http://purl.obolibrary.org/obo/HP_0030124		Reduced muscle fibre lamin A/C
OBO:HP_0030125	Sacralization of the fifth lumbar vertebra	biolink:OntologyClass	hp	UMLS:C4021052	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.	http://purl.obolibrary.org/obo/HP_0030125		L5 sacralization
OBO:HP_0030126	Abnormality of the endometrium	biolink:OntologyClass	hp	UMLS:C4022620	An anomaly of the inner mucous membrane of the uterus.	http://purl.obolibrary.org/obo/HP_0030126		
OBO:HP_0030127	Endometriosis	biolink:OntologyClass	hp	MSH:D004715|SNOMEDCT_US:129103003|SNOMEDCT_US:396224008|UMLS:C0014175	The growth of endometrial tissue outside the uterus.	http://purl.obolibrary.org/obo/HP_0030127		
OBO:HP_0030129	Impaired ristocetin cofactor assay activity	biolink:OntologyClass	hp	UMLS:C4022619	Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin to platelet-poor plasma.	http://purl.obolibrary.org/obo/HP_0030129		
OBO:HP_0030130	Impaired von Willibrand factor collagen binding activity	biolink:OntologyClass	hp	UMLS:C4022618	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.	http://purl.obolibrary.org/obo/HP_0030130		
OBO:HP_0030131	Abnormal von Willebrand factor multimer distribution	biolink:OntologyClass	hp	UMLS:C4022617	Deviation from the normal von Willebrand factor multimer pattern.	http://purl.obolibrary.org/obo/HP_0030131		
OBO:HP_0030132	Absence of large von Willibrand factor multimers	biolink:OntologyClass	hp	UMLS:C4022616	Absence of large von Willebrand Factor multimers on gel electrophoresis.	http://purl.obolibrary.org/obo/HP_0030132		
OBO:HP_0030133	Abnormal presence of ultra-large von Willebrand factor multimers	biolink:OntologyClass	hp	UMLS:C4022615	Detection of abnormal ultra-large von Willebrand factor multimers.	http://purl.obolibrary.org/obo/HP_0030133		
OBO:HP_0030134	Total absence von Willebrand factor multimers	biolink:OntologyClass	hp	UMLS:C4022614	Complete absence of all von Willebrand factor multimers.	http://purl.obolibrary.org/obo/HP_0030134		
OBO:HP_0030135	Absence of intermediate von Willibrand factor multimers	biolink:OntologyClass	hp	UMLS:C4022613	Lack of intermediate von Willebrand Factor multimers on gel electrophoresis.	http://purl.obolibrary.org/obo/HP_0030135		
OBO:HP_0030136	Enhanced ristocetin cofactor assay activity	biolink:OntologyClass	hp	UMLS:C4022612	Abnormal response to ristocetin as manifested by increased aggregation of platelets upon addition of low-dose ristocetin to platelet-rich plasma.	http://purl.obolibrary.org/obo/HP_0030136		
OBO:HP_0030137	Prolonged bleeding following circumcision	biolink:OntologyClass	hp	UMLS:C4022611	Bleeding that persists for a longer than usual time following circumcision.	http://purl.obolibrary.org/obo/HP_0030137		Prolonged bleeding following circumcision
OBO:HP_0030138	Excessive bleeding from superficial cuts	biolink:OntologyClass	hp	UMLS:C4022610	An abnormally increased degree of bleeding following a superfical injury to the surface of the skin.	http://purl.obolibrary.org/obo/HP_0030138		Excessive bleeding from superficial cuts
OBO:HP_0030139	Excessive bleeding after a venipuncture	biolink:OntologyClass	hp	UMLS:C4022609	An abnormal high amount of bleeding following the procedure of taking a blood sample.	http://purl.obolibrary.org/obo/HP_0030139		
OBO:HP_0030140	Oral cavity bleeding	biolink:OntologyClass	hp	UMLS:C4022608	Recurrent or excessive bleeding from the mouth.	http://purl.obolibrary.org/obo/HP_0030140		Bleeding from mouth|Oral cavity bleeding|Oral cavity hemorrhage
OBO:HP_0030141	Abnormality of the posterior hairline	biolink:OntologyClass	hp	UMLS:C4022607	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.	http://purl.obolibrary.org/obo/HP_0030141		Abnormality of hairline at back of head
OBO:HP_0030142	Abnormal bowel sounds	biolink:OntologyClass	hp	SNOMEDCT_US:60612008|UMLS:C0159060	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.	http://purl.obolibrary.org/obo/HP_0030142		Abnormal bowel sounds
OBO:HP_0030143	Hyperactive bowel sounds	biolink:OntologyClass	hp	SNOMEDCT_US:18101008|UMLS:C0232694	An increased amount of bowel sounds.	http://purl.obolibrary.org/obo/HP_0030143		Increased bowel sounds
OBO:HP_0030144	Hypoactive bowel sounds	biolink:OntologyClass	hp	SNOMEDCT_US:15280003|UMLS:C0232695	An decreased amount of bowel sounds.	http://purl.obolibrary.org/obo/HP_0030144		Decreased bowel sounds
OBO:HP_0030145	Lack of bowel sounds	biolink:OntologyClass	hp	UMLS:C4022606	Complete lack of abdominal sounds as assayed by examination of the abdomen with a stethoscope.	http://purl.obolibrary.org/obo/HP_0030145		Lack of bowel sounds
OBO:HP_0030146	Abnormal liver parenchyma morphology	biolink:OntologyClass	hp	UMLS:C4022605	A structural anomaly of the liver located predominantly in the hepatocytes as opposed to stromal cells.	http://purl.obolibrary.org/obo/HP_0030146		
OBO:HP_0030147	Truncal titubation	biolink:OntologyClass	hp	UMLS:C2674512	Tremor of the trunk in an anterior-posterior plane at 3-4 Hz.	http://purl.obolibrary.org/obo/HP_0030147		
OBO:HP_0030148	Heart murmur	biolink:OntologyClass	hp	MSH:D006337|SNOMEDCT_US:414786004|SNOMEDCT_US:421493004|SNOMEDCT_US:88610006|UMLS:C0018808	An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart.	http://purl.obolibrary.org/obo/HP_0030148		Heart murmur|Heart murmurs|Cardiac murmur|Cardiac murmurs
OBO:HP_0030149	Cardiogenic shock	biolink:OntologyClass	hp	MSH:D012770|SNOMEDCT_US:89138009|UMLS:C0036980	Severely decreased cardiac output with evidence of inadequate end-organ perfusion (i.e., tissue hypoxia) in the presence of adequate intravascular volume.	http://purl.obolibrary.org/obo/HP_0030149		Cardiovascular shock
OBO:HP_0030150	Plasmacytosis	biolink:OntologyClass	hp	UMLS:C0549295	An abnormally increased number of plasma cells in tissues, exudates, or blood	http://purl.obolibrary.org/obo/HP_0030150		
OBO:HP_0030151	Cholangitis	biolink:OntologyClass	hp	MSH:D002761|SNOMEDCT_US:82403002|UMLS:C0008311	Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both.	http://purl.obolibrary.org/obo/HP_0030151		Bile duct inflammation
OBO:HP_0030152	obsolete Biliary tract neoplasm	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0030152		
OBO:HP_0030153	Cholangiocarcinoma	biolink:OntologyClass	hp	MSH:D018281|NCIT:C3262|SNOMEDCT_US:312104005|SNOMEDCT_US:70179006|UMLS:C0206698	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.	http://purl.obolibrary.org/obo/HP_0030153		Bile duct cancer
OBO:HP_0030154	Gallbladder perforation	biolink:OntologyClass	hp	SNOMEDCT_US:25345001|UMLS:C0156215	Rupture of the wall of the gallbladder.	http://purl.obolibrary.org/obo/HP_0030154		Gall bladder perforation
OBO:HP_0030155	Scrotal pain	biolink:OntologyClass	hp	SNOMEDCT_US:20502007|UMLS:C0236078	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the scrotum.	http://purl.obolibrary.org/obo/HP_0030155		Scrotal pain
OBO:HP_0030156	Bence Jones Proteinuria	biolink:OntologyClass	hp	SNOMEDCT_US:274771005|UMLS:C0004968	The presence of free monoclonal immunoglobulin light chains in the urine.	http://purl.obolibrary.org/obo/HP_0030156		
OBO:HP_0030157	Flank pain	biolink:OntologyClass	hp	MSH:D021501|SNOMEDCT_US:247355005|UMLS:C0016199	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the flank.	http://purl.obolibrary.org/obo/HP_0030157		Kidney pain|Flank pain
OBO:HP_0030158	Cervical ectropion	biolink:OntologyClass	hp	MSH:D002579|SNOMEDCT_US:61253004|SNOMEDCT_US:79342006|UMLS:C0007869|UMLS:C0269189	Cervical ectropion occurs when eversion of the endocervix exposes columnar epithelium to the vaginal milieu	http://purl.obolibrary.org/obo/HP_0030158		Cervical ectopy|Cervical erosion
OBO:HP_0030159	Cervical polyp	biolink:OntologyClass	hp	MSH:D002583|SNOMEDCT_US:123841004|SNOMEDCT_US:65576009|UMLS:C0007855|UMLS:C0007873	Abnormal growth of tissue projecting from a mucous membrane of the endocervix.	http://purl.obolibrary.org/obo/HP_0030159		Cervical tumor
OBO:HP_0030160	Cervicitis	biolink:OntologyClass	hp	MSH:D002575|SNOMEDCT_US:37610005|UMLS:C0007860	Inflammation of the uterine cervix.	http://purl.obolibrary.org/obo/HP_0030160		Uterine cervix inflammation|Uterine cervicitis
OBO:HP_0030161	Vaginal pruritus	biolink:OntologyClass	hp	SNOMEDCT_US:34363003|UMLS:C0042256	A sensation of itching in the vagina.	http://purl.obolibrary.org/obo/HP_0030161		
OBO:HP_0030162	Glomerulomegaly	biolink:OntologyClass	hp	UMLS:C4022604	Abnormally large size of glomeruli.	http://purl.obolibrary.org/obo/HP_0030162		
OBO:HP_0030163	Abnormal vascular physiology	biolink:OntologyClass	hp	UMLS:C4022603	Abnormality of vascular function.	http://purl.obolibrary.org/obo/HP_0030163		
OBO:HP_0030164	Jaw claudication	biolink:OntologyClass	hp	SNOMEDCT_US:43922008|UMLS:C0239064	Pain in the jaw or ear induced by chewing or otherwise moving the jaw.	http://purl.obolibrary.org/obo/HP_0030164		Jaw pain while chewing
OBO:HP_0030165	Temporal artery tortuosity	biolink:OntologyClass	hp	UMLS:C4022602	The presence of an increased number of twists and turns of the temporal artery.	http://purl.obolibrary.org/obo/HP_0030165		
OBO:HP_0030166	Night sweats	biolink:OntologyClass	hp	SNOMEDCT_US:42984000|UMLS:C0028081	Occurence of excessive sweating during sleep.	http://purl.obolibrary.org/obo/HP_0030166		Night sweats|Nocturnal hyperhidrosis
OBO:HP_0030167	Antimitochondrial antibody positivity	biolink:OntologyClass	hp	UMLS:C4021051	The presence of autoantibodies (immunoglobulins) in the serum that react against mitochondria.	http://purl.obolibrary.org/obo/HP_0030167		Serum antimitochrondrial antibodies
OBO:HP_0030168	Dilated superficial abdominal veins	biolink:OntologyClass	hp	UMLS:C4021050	Increase in diameter of the veins located underneath the skin of the abdomen.	http://purl.obolibrary.org/obo/HP_0030168		Dilatation of the superficial abdominal veins
OBO:HP_0030169	Gastric varix	biolink:OntologyClass	hp	MSH:D004932|SNOMEDCT_US:91109007|UMLS:C0017145	Extreme dilation of the submucusoal veins in the stomach.	http://purl.obolibrary.org/obo/HP_0030169		Gastric varices
OBO:HP_0030170	Cystic artery pseudoaneurysm	biolink:OntologyClass	hp	UMLS:C4022601	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.	http://purl.obolibrary.org/obo/HP_0030170		
OBO:HP_0030171	Perirenal hematoma	biolink:OntologyClass	hp	SNOMEDCT_US:197824007|UMLS:C0473124	A collection of clotted blood surrounding the kidney.	http://purl.obolibrary.org/obo/HP_0030171		
OBO:HP_0030172	Peripheral amyelination	biolink:OntologyClass	hp	UMLS:C4022600	Congenital absence of the myelin sheath on a nerve.	http://purl.obolibrary.org/obo/HP_0030172		
OBO:HP_0030173	Peripheral hypermyelination	biolink:OntologyClass	hp	UMLS:C4021049	Increased amount of peripheral myelination.	http://purl.obolibrary.org/obo/HP_0030173		Increased peripheral myelination
OBO:HP_0030174	Increased peripheral myelin thickness	biolink:OntologyClass	hp	UMLS:C4022599	Elevated thickness of the myelin sheath of peripheral nerves, in a regular and concentric fashion.	http://purl.obolibrary.org/obo/HP_0030174		
OBO:HP_0030175	Myelin tomacula	biolink:OntologyClass	hp	UMLS:C4020904	The presence of multiple sausage-shaped swellings of the myelin sheath (The Latin tomaculum means sausage).	http://purl.obolibrary.org/obo/HP_0030175		Tomacula
OBO:HP_0030176	Asymmetric peripheral demyelination	biolink:OntologyClass	hp	UMLS:C4022598	Loss of myelin from peripheral nerves in a pattern that differs between right and left.	http://purl.obolibrary.org/obo/HP_0030176		
OBO:HP_0030177	Abnormality of peripheral nervous system electrophysiology	biolink:OntologyClass	hp	UMLS:C0853150	An abnormality of the function of the electrical signals with which peripheral nerve cells communicate with each other or with muscles.	http://purl.obolibrary.org/obo/HP_0030177		Abnormal nerve conduction study
OBO:HP_0030178	Abnormality of central nervous system electrophysiology	biolink:OntologyClass	hp	UMLS:C4022597		http://purl.obolibrary.org/obo/HP_0030178		Abnormality of CNS electrophysiology
OBO:HP_0030179	Abnormal peripheral action potential amplitude	biolink:OntologyClass	hp	UMLS:C4022596	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.	http://purl.obolibrary.org/obo/HP_0030179		
OBO:HP_0030180	Oppenheim reflex	biolink:OntologyClass	hp	SNOMEDCT_US:414949005|UMLS:C1532837	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).	http://purl.obolibrary.org/obo/HP_0030180		Oppenheim sign
OBO:HP_0030181	Gordon reflex	biolink:OntologyClass	hp	UMLS:C4021048	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).	http://purl.obolibrary.org/obo/HP_0030181		Gordon sign
OBO:HP_0030182	Tetraplegia/tetraparesis	biolink:OntologyClass	hp	UMLS:C4022595	Loss of strength in all four limbs. Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength.	http://purl.obolibrary.org/obo/HP_0030182		
OBO:HP_0030183	Impaired visually enhanced vestibulo-ocular reflex	biolink:OntologyClass	hp	UMLS:C4021047	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).	http://purl.obolibrary.org/obo/HP_0030183		VVOR impairment|Visually enhanced vestibulo-ocular reflex impairment
OBO:HP_0030185	Isometric tremor	biolink:OntologyClass	hp	UMLS:C4022594|UMLS:C4280303	An isometric tremor occurs with muscle contraction against a rigid stationary object (e.g., when making a fist).	http://purl.obolibrary.org/obo/HP_0030185		Dystonia tremor
OBO:HP_0030186	Kinetic tremor	biolink:OntologyClass	hp	MSH:D014202|MSH:D020329|SNOMEDCT_US:30721006|SNOMEDCT_US:609558009|UMLS:C0234376|UMLS:C0270736	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.	http://purl.obolibrary.org/obo/HP_0030186		Essential tremor
OBO:HP_0030187	Titubation	biolink:OntologyClass	hp	SNOMEDCT_US:78691002|UMLS:C0231690	Nodding movement of the head or body.	http://purl.obolibrary.org/obo/HP_0030187		
OBO:HP_0030188	Tremor by anatomical site	biolink:OntologyClass	hp	UMLS:C4022593	Tremor classified by the affected body part.	http://purl.obolibrary.org/obo/HP_0030188		Tremor of a body part
OBO:HP_0030190	Oral motor hypotonia	biolink:OntologyClass	hp	UMLS:C4022592	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.	http://purl.obolibrary.org/obo/HP_0030190		
OBO:HP_0030191	Abnormal peripheral nervous system synaptic transmission	biolink:OntologyClass	hp	UMLS:C4021046	An anomaly in the communication from a neuron to a target across a synapse in the peripheral nervous system.	http://purl.obolibrary.org/obo/HP_0030191		Abnormal PNS synaptic transmission
OBO:HP_0030192	Fatigable weakness of bulbar muscles	biolink:OntologyClass	hp	UMLS:C4022591	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.	http://purl.obolibrary.org/obo/HP_0030192		
OBO:HP_0030193	Fatigable weakness of chewing muscles	biolink:OntologyClass	hp	UMLS:C4022590	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.	http://purl.obolibrary.org/obo/HP_0030193		
OBO:HP_0030194	Fatigable weakness of speech muscles	biolink:OntologyClass	hp	UMLS:C4022589	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.	http://purl.obolibrary.org/obo/HP_0030194		
OBO:HP_0030195	Fatigable weakness of swallowing muscles	biolink:OntologyClass	hp	UMLS:C4022588	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.	http://purl.obolibrary.org/obo/HP_0030195		
OBO:HP_0030196	Fatigable weakness of respiratory muscles	biolink:OntologyClass	hp	UMLS:C4022587	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.	http://purl.obolibrary.org/obo/HP_0030196		
OBO:HP_0030197	Fatigable weakness of skeletal muscles	biolink:OntologyClass	hp	UMLS:C4022586	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.	http://purl.obolibrary.org/obo/HP_0030197		
OBO:HP_0030198	Fatigable weakness of distal limb muscles	biolink:OntologyClass	hp	UMLS:C4022585	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.	http://purl.obolibrary.org/obo/HP_0030198		
OBO:HP_0030199	Fatigable weakness of neck muscles	biolink:OntologyClass	hp	UMLS:C4022584	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.	http://purl.obolibrary.org/obo/HP_0030199		
OBO:HP_0030200	Fatiguable weakness of proximal limb muscles	biolink:OntologyClass	hp	UMLS:C4022583	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.	http://purl.obolibrary.org/obo/HP_0030200		
OBO:HP_0030201	Response to drugs acting on neuromuscular transmission	biolink:OntologyClass	hp	UMLS:C4022582	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.	http://purl.obolibrary.org/obo/HP_0030201		
OBO:HP_0030202	Favorable response of weakness to acetylcholine esterase inhibitors	biolink:OntologyClass	hp	UMLS:C4022581	Improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor.	http://purl.obolibrary.org/obo/HP_0030202		Favourable response of weakness to acetylcholine esterase inhibitors
OBO:HP_0030203	Unfavorable response of muscle weakness to acetylcholine esterase inhibitors	biolink:OntologyClass	hp	UMLS:C4022580	Lack of improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor.	http://purl.obolibrary.org/obo/HP_0030203		Unfavourable response of muscle weakness to acetylcholine esterase inhibitors
OBO:HP_0030205	Increased jitter at single fiber EMG	biolink:OntologyClass	hp	UMLS:C4021045	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).	http://purl.obolibrary.org/obo/HP_0030205		Increased jitter at single fibre EMG|Increased jitter at single fibre electromyography
OBO:HP_0030206	EMG: incremental response of compound muscle action potential to repetitive nerve stimulation	biolink:OntologyClass	hp	UMLS:C4022579	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.	http://purl.obolibrary.org/obo/HP_0030206		
OBO:HP_0030207	Paradoxical respiration	biolink:OntologyClass	hp	MSH:D005409|SNOMEDCT_US:12025005|SNOMEDCT_US:78011002|UMLS:C0016196|UMLS:C0231852	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.	http://purl.obolibrary.org/obo/HP_0030207		Paradoxical breathing|Flail chest
OBO:HP_0030208	Acetylcholine receptor antibody positivity	biolink:OntologyClass	hp	UMLS:C4022578	The presence of autoantibodies (immunoglobulins) in the serum that react against the acetylcholine receptor.	http://purl.obolibrary.org/obo/HP_0030208		
OBO:HP_0030209	Calcium channel antibody positivity	biolink:OntologyClass	hp	UMLS:C4022577	The presence of autoantibodies (immunoglobulins) in the serum that react against voltage-gated calcium channels.	http://purl.obolibrary.org/obo/HP_0030209		Ca channel antibody positivity|Ca2+ channel antibody positivity
OBO:HP_0030210	Muscle specific kinase antibody positivity	biolink:OntologyClass	hp	UMLS:C4021044	The presence of autoantibodies (immunoglobulins) in the serum that react against muscle specific kinase (anti-MuSK Ab).	http://purl.obolibrary.org/obo/HP_0030210		Anti-MUSK antibodies
OBO:HP_0030211	Slow pupillary light response	biolink:OntologyClass	hp	UMLS:C4022576	Reduced velocity and acceleration in the pupillary light response.	http://purl.obolibrary.org/obo/HP_0030211		
OBO:HP_0030212	Collectionism	biolink:OntologyClass	hp	SNOMEDCT_US:247968005|UMLS:C0424290	Excessive or pathological tendency to save and collect possessions.	http://purl.obolibrary.org/obo/HP_0030212		Compulsive hoarding
OBO:HP_0030213	Emotional blunting	biolink:OntologyClass	hp	SNOMEDCT_US:6140007|UMLS:C0233469	Lack of emotional reactivity and empathy for situations or persons, sometime also for family members.	http://purl.obolibrary.org/obo/HP_0030213		
OBO:HP_0030214	Hypersexuality	biolink:OntologyClass	hp	SNOMEDCT_US:73744004|UMLS:C0312420|UMLS:C0679145	Pathological persistent sexual disinhibiting behavior, directed at oneself or to others.	http://purl.obolibrary.org/obo/HP_0030214		Sex addiction
OBO:HP_0030215	Inappropriate crying	biolink:OntologyClass	hp	UMLS:C0860609	Uncontrolled episodes of crying, without apparent motivating stimuli.	http://purl.obolibrary.org/obo/HP_0030215		Inappropriate crying
OBO:HP_0030216	Inertia	biolink:OntologyClass	hp	UMLS:C4022575	Reduction of goal-directed behaviors linked to the impairment in frontal executive functions (planning of an action for example).	http://purl.obolibrary.org/obo/HP_0030216		
OBO:HP_0030217	Limb apraxia	biolink:OntologyClass	hp	UMLS:C4022574	Difficulty in performing the correct execution of limbs movements in absence of motor impairment.	http://purl.obolibrary.org/obo/HP_0030217		
OBO:HP_0030218	Punding	biolink:OntologyClass	hp	UMLS:C1963933	Punding is a stereotypical motor behavior characterized by an intense fascination with repetitive, excessive and non-goal oriented handling, and examining of objects.	http://purl.obolibrary.org/obo/HP_0030218		
OBO:HP_0030219	Semantic dementia	biolink:OntologyClass	hp	MSH:D057180|SNOMEDCT_US:230288001|UMLS:C0338462	A progressive loss of the ability to remember the meaning of words, faces and objects.	http://purl.obolibrary.org/obo/HP_0030219		Trouble remembering words
OBO:HP_0030220	Socially inappropriate behavior	biolink:OntologyClass	hp	UMLS:C2220010	Behavior that is not in line with social norms.	http://purl.obolibrary.org/obo/HP_0030220		Socially inappropriate behavior|Socially inappropriate behaviour
OBO:HP_0030221	Sweet craving	biolink:OntologyClass	hp	UMLS:C0241314	Excessive desire to eat sweet foods.	http://purl.obolibrary.org/obo/HP_0030221		Sweet craving
OBO:HP_0030222	Visual agnosia	biolink:OntologyClass	hp	MSH:D000377|SNOMEDCT_US:25762009|UMLS:C0234502	Difficulty in recognizing objects by visual input in absence of sensorial visual impairment.	http://purl.obolibrary.org/obo/HP_0030222		
OBO:HP_0030223	Perseveration	biolink:OntologyClass	hp	SNOMEDCT_US:44515000|UMLS:C0233651	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.	http://purl.obolibrary.org/obo/HP_0030223		Perseverative behaviour|Perseverative behavior
OBO:HP_0030224	Abnormal muscle fiber desmin	biolink:OntologyClass	hp	UMLS:C4022573	A deviation from normal in the expression of desmin in muscle tissue. Desmin is an 53-KDa protein.	http://purl.obolibrary.org/obo/HP_0030224		Abnormal muscle fibre desmin
OBO:HP_0030225	Accumulation of muscle fiber desmin	biolink:OntologyClass	hp	UMLS:C4021043	Immunohistochemistry shows accumulation of desmin protein in the muscle biopsy.	http://purl.obolibrary.org/obo/HP_0030225		Accumulation of muscle fibre desmin|Muscle fiber desmin-reactive inclusion bodies
OBO:HP_0030226	Abnormal muscle fiber myotilin	biolink:OntologyClass	hp	UMLS:C4022572	A deviation from normal in the expression of myotilin in muscle tissue. Myotilin is a 57kD cytoskeletal protein.	http://purl.obolibrary.org/obo/HP_0030226		Abnormal muscle fibre myotilin
OBO:HP_0030227	Accumulation of muscle fiber myotilin	biolink:OntologyClass	hp	UMLS:C4022571	Immunohistochemistry shows accumulation of myotilin protein in the muscle biopsy.	http://purl.obolibrary.org/obo/HP_0030227		Accumulation of muscle fibre myotilin
OBO:HP_0030228	Abnormal muscle fiber valosin-containing protein	biolink:OntologyClass	hp	UMLS:C4022570	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.	http://purl.obolibrary.org/obo/HP_0030228		Abnormal muscle fibre valosin-containing protein
OBO:HP_0030229	Accumulation of muscle fiber valosin-containing protein	biolink:OntologyClass	hp	UMLS:C4022569	Immunohistochemistry shows accumulation of valosin-containing protein in the muscle biopsy.	http://purl.obolibrary.org/obo/HP_0030229		Accumulation of muscle fibre valosin-containing protein
OBO:HP_0030230	Central core regions in muscle fibers	biolink:OntologyClass	hp	UMLS:C4022568	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.	http://purl.obolibrary.org/obo/HP_0030230		Central core regions in muscle fibres
OBO:HP_0030231	Glycogen accumulation in muscle fiber lysosomes	biolink:OntologyClass	hp	UMLS:C4022567	An increased amount of glycogen in muscle tissue found specifically in lysosomes.	http://purl.obolibrary.org/obo/HP_0030231		Glycogen accumulation in muscle fibre lysosomes
OBO:HP_0030232	Increased sarcoplasmic glycogen	biolink:OntologyClass	hp	UMLS:C4022566	Elevated glycogen content in the sarcoplasm (cytoplasm) of muscle fibers.	http://purl.obolibrary.org/obo/HP_0030232		
OBO:HP_0030233	Bethlem sign	biolink:OntologyClass	hp	UMLS:C4021042	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.	http://purl.obolibrary.org/obo/HP_0030233		Bethlem phenomenon
OBO:HP_0030234	Highly elevated creatine kinase	biolink:OntologyClass	hp	UMLS:C4022565	An increased CPK level between 4X and 50X above the upper normal level.	http://purl.obolibrary.org/obo/HP_0030234		Highly elevated CPK|Highly elevated serum CK|Highly elevated serum CPK|Highly elevated serum phosph-CK|Highly elevated creatine phosphokinase
OBO:HP_0030235	Extremely elevated creatine kinase	biolink:OntologyClass	hp	UMLS:C4022564	An increased creatine kinase level more than 50X above the upper normal level.	http://purl.obolibrary.org/obo/HP_0030235		Extremely elevated CPK|Extremely elevated phospho-CK serum level|Extremely elevated serum CK level|Extremely high CPK level|Extremely elevated creatine phosphokinase
OBO:HP_0030236	Abnormality of muscle size	biolink:OntologyClass	hp	UMLS:C4022563	Abnormalities of the overall muscle bulk based on clinical observation.	http://purl.obolibrary.org/obo/HP_0030236		Abnormality of muscle size
OBO:HP_0030237	Hand muscle weakness	biolink:OntologyClass	hp	SNOMEDCT_US:298283006|UMLS:C0239831	Reduced strength of the musculature of the hand.	http://purl.obolibrary.org/obo/HP_0030237		Hand muscle weakness
OBO:HP_0030239	Hypoplasia of the upper arm musculature	biolink:OntologyClass	hp	UMLS:C4022562	Underdevelopment of the musculature of the upper arm, which may include the deltoid, the triceps, the biceps, and the brachioradialis.	http://purl.obolibrary.org/obo/HP_0030239		Underdeveloped upper arm muscles
OBO:HP_0030241	Hypoplasia of deltoid muscle	biolink:OntologyClass	hp	UMLS:C1868170	Underdevelopment of the deltoid muscle.	http://purl.obolibrary.org/obo/HP_0030241		Deltoid muscle hypoplasia
OBO:HP_0030242	Portal vein thrombosis	biolink:OntologyClass	hp	SNOMEDCT_US:17920008|UMLS:C0155773	Thrombosis of the portal vein and/or its tributaries, which include the splenic vein and the superior and inferior mesenteric veins.	http://purl.obolibrary.org/obo/HP_0030242		Blood clot in portal vein
OBO:HP_0030243	Hepatic vein thrombosis	biolink:OntologyClass	hp	MSH:D006502|SNOMEDCT_US:38739001|UMLS:C0019154	An obstruction in the veins of the liver caused by a blood clot (thrombosis).	http://purl.obolibrary.org/obo/HP_0030243		Blood clot in liver vein|Hepatic venous thrombosis
OBO:HP_0030244	Maternal fever in pregnancy	biolink:OntologyClass	hp	UMLS:C4021041	The occurence of an elevated body temperature of the mother during pregnancy.	http://purl.obolibrary.org/obo/HP_0030244		Maternal fever during pregnancy
OBO:HP_0030245	Intrapartum fever	biolink:OntologyClass	hp	UMLS:C3829514	The occurence of maternal fever during labor.	http://purl.obolibrary.org/obo/HP_0030245		Maternal fever during labor
OBO:HP_0030246	Maternal first trimester fever	biolink:OntologyClass	hp	UMLS:C4022561	The occurence of fever in a mother during the first trimester of pregnancy.	http://purl.obolibrary.org/obo/HP_0030246		
OBO:HP_0030247	Splanchnic vein thrombosis	biolink:OntologyClass	hp	UMLS:C4022560	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).	http://purl.obolibrary.org/obo/HP_0030247		Blood clot in splanchnic vein
OBO:HP_0030248	Mesenteric venous thrombosis	biolink:OntologyClass	hp	MSH:D065666|SNOMEDCT_US:95446005|UMLS:C0267412	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).	http://purl.obolibrary.org/obo/HP_0030248		Blood clot in mesentertic vein
OBO:HP_0030249	Enanthema	biolink:OntologyClass	hp	SNOMEDCT_US:5862001|UMLS:C0014034	A sudden eruption (rash) of the surface of a mucous membrane of the mouth or pharynx.	http://purl.obolibrary.org/obo/HP_0030249		
OBO:HP_0030250	Pulmonary granulomatosis	biolink:OntologyClass	hp	UMLS:C0856628	The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the lung.	http://purl.obolibrary.org/obo/HP_0030250		
OBO:HP_0030251	Absence of memory B cells	biolink:OntologyClass	hp	UMLS:C4022559	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.	http://purl.obolibrary.org/obo/HP_0030251		
OBO:HP_0030252	Absence of mature B cells	biolink:OntologyClass	hp	UMLS:C4022558	Complete lack of mature B cells, that is, of B cells that have left the bone marrow.	http://purl.obolibrary.org/obo/HP_0030252		
OBO:HP_0030253	Defective T cell proliferation	biolink:OntologyClass	hp	UMLS:C4022557	A reduced ability of a T cell population to expand by cell division following T cell activation.	http://purl.obolibrary.org/obo/HP_0030253		
OBO:HP_0030254	Nail bed hemorrhage	biolink:OntologyClass	hp	UMLS:C0877087	Small areas of bleeding (hemorrhage) under the fingernail or toenail.	http://purl.obolibrary.org/obo/HP_0030254		Nail bed haemorrhage
OBO:HP_0030255	Large intestinal polyposis	biolink:OntologyClass	hp	UMLS:C4022556	The presence of multiple polyps in the large intestine.	http://purl.obolibrary.org/obo/HP_0030255		
OBO:HP_0030256	Small intestinal polyposis	biolink:OntologyClass	hp	UMLS:C4022555	The presence of multiple polyps in the small intestine.	http://purl.obolibrary.org/obo/HP_0030256		
OBO:HP_0030257	Freckled genitalia	biolink:OntologyClass	hp	UMLS:C4021040	One or more brown punctate macules on the skin of the genitalia.	http://purl.obolibrary.org/obo/HP_0030257		Freckled genitalia|Genitalia, ephelides
OBO:HP_0030258	Hyperpigmented genitalia	biolink:OntologyClass	hp	UMLS:C4020713|UMLS:C4022554	Localized or generalized increased genital pigmentation.	http://purl.obolibrary.org/obo/HP_0030258		Increased genital pigmentation|Penile melanosis
OBO:HP_0030259	Hypopigmented genitalia	biolink:OntologyClass	hp	UMLS:C4022553	Localized or generalized decreased genital pigmentation.	http://purl.obolibrary.org/obo/HP_0030259		Decreased genital pigmentation
OBO:HP_0030260	Microphallus	biolink:OntologyClass	hp	SNOMEDCT_US:276333003|UMLS:C0240701	Length of penis more than 2 SD below the mean for age accompanied by hypospadias.	http://purl.obolibrary.org/obo/HP_0030260		
OBO:HP_0030261	Absent penis	biolink:OntologyClass	hp	SNOMEDCT_US:204908001|SNOMEDCT_US:59981001|UMLS:C0555231	Lack of recognizable penile structures.	http://purl.obolibrary.org/obo/HP_0030261		Absent penis|Aphallia|Aplasia of the penis|Penis aplasia
OBO:HP_0030262	Narrow penis	biolink:OntologyClass	hp	UMLS:C4022552	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.	http://purl.obolibrary.org/obo/HP_0030262		Narrow penis
OBO:HP_0030263	Torsion of the penis	biolink:OntologyClass	hp	UMLS:C1407019	Rotated position of the glans, with or without the penile shaft, of 30 degrees or more.	http://purl.obolibrary.org/obo/HP_0030263		
OBO:HP_0030264	Webbed penis	biolink:OntologyClass	hp	SNOMEDCT_US:253852007|UMLS:C0431670	Ventral skinfold extending from penis to scrotum.	http://purl.obolibrary.org/obo/HP_0030264		Webbed penis
OBO:HP_0030265	Wide penis	biolink:OntologyClass	hp	UMLS:C4022551	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.	http://purl.obolibrary.org/obo/HP_0030265		Wide penis
OBO:HP_0030266	obsolete Abnormality of the sacroiliac notch	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0030266		
OBO:HP_0030267	Calcification of the interosseus membrane of the forearm	biolink:OntologyClass	hp	UMLS:C4022549	Deposition of calcium salts in the fibrous sheet that connects the radius and the ulna.	http://purl.obolibrary.org/obo/HP_0030267		
OBO:HP_0030268	Hyperplastic callus formation	biolink:OntologyClass	hp	UMLS:C4022548	Increased growth of callus, the bony and cartilaginous material that forms a connecting bridge across a bone fracture during fracture healing.	http://purl.obolibrary.org/obo/HP_0030268		
OBO:HP_0030269	Increased serum insulin-like growth factor 1	biolink:OntologyClass	hp	UMLS:C2676198	An elevated level of insulin-like growth factor 1 (IGF1) in the blood circulation.	http://purl.obolibrary.org/obo/HP_0030269		Elevated serum IGF1|Increased serum IGF1|Increased serum insulin-like growth factor 1
OBO:HP_0030270	Elevated red cell adenosine deaminase level	biolink:OntologyClass	hp	UMLS:C4022547	Increase in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine.	http://purl.obolibrary.org/obo/HP_0030270		
OBO:HP_0030271	Reduced erythrocyte 2,3-diphosphoglycerate concentration	biolink:OntologyClass	hp	UMLS:C4022546	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.	http://purl.obolibrary.org/obo/HP_0030271		
OBO:HP_0030272	Abnormal erythrocyte enzyme level	biolink:OntologyClass	hp	UMLS:C4022545	An altered level of any enzyme to act as catalysts within erythrocytes. This term includes changes due to altered activity of an enzyme.	http://purl.obolibrary.org/obo/HP_0030272		
OBO:HP_0030273	Reduced red cell adenosine deaminase level	biolink:OntologyClass	hp	UMLS:C4022544	Decrease in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine.	http://purl.obolibrary.org/obo/HP_0030273		
OBO:HP_0030274	Accessory scrotum	biolink:OntologyClass	hp	UMLS:C4022543	Additional scrotum, or part of a scrotum in an abnormal location.	http://purl.obolibrary.org/obo/HP_0030274		Extra scrotum
OBO:HP_0030275	Ectopic scrotum	biolink:OntologyClass	hp	UMLS:C4022542	Scrotum in a position other than the usual position inferior to the base of the penis.	http://purl.obolibrary.org/obo/HP_0030275		Abnormal scrotum position
OBO:HP_0030276	Small scrotum	biolink:OntologyClass	hp	SNOMEDCT_US:204912007|UMLS:C0431659	Apparently small scrotum for age.	http://purl.obolibrary.org/obo/HP_0030276		Small scrotum|Underdeveloped scrotum
OBO:HP_0030277	Abnormal vertebral pedicle morphology	biolink:OntologyClass	hp	UMLS:C4022541	Abnormal morphology of a vertebral pedical.	http://purl.obolibrary.org/obo/HP_0030277		
OBO:HP_0030278	Hypoplastic vertebral pedicle	biolink:OntologyClass	hp	UMLS:C4022540	Underdeveloped vertebral pedicle.	http://purl.obolibrary.org/obo/HP_0030278		
OBO:HP_0030279	Hypoplastic L5 vertebral pedicle	biolink:OntologyClass	hp	UMLS:C4022539	Underdeveloped pedicle of the fifth lumbar vertebra.	http://purl.obolibrary.org/obo/HP_0030279		
OBO:HP_0030280	Rib gap	biolink:OntologyClass	hp	SNOMEDCT_US:249705009|UMLS:C0426827	Radiolucent focal defect of a rib shaft.	http://purl.obolibrary.org/obo/HP_0030280		Rib gap
OBO:HP_0030281	Cervical C3/C4 vertebral fusion	biolink:OntologyClass	hp	UMLS:C4022538	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.	http://purl.obolibrary.org/obo/HP_0030281		
OBO:HP_0030282	Posterior rib gap	biolink:OntologyClass	hp	UMLS:C1842696	Radiolucent focal defect of the posterior portion of a rib shaft. The 'gaps' may lead to flail chest.	http://purl.obolibrary.org/obo/HP_0030282		Dorsal rib defect
OBO:HP_0030283	Partial absence of the septum pellucidum	biolink:OntologyClass	hp	SNOMEDCT_US:422474003|UMLS:C1827299	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.	http://purl.obolibrary.org/obo/HP_0030283		
OBO:HP_0030284	Triangular tongue	biolink:OntologyClass	hp	UMLS:C4022537	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.	http://purl.obolibrary.org/obo/HP_0030284		Triangle shaped tongue|Triangular tongue
OBO:HP_0030285	Splayed superior cerebellar peduncle	biolink:OntologyClass	hp	UMLS:C4022536	Abnormal splayed configuration (spreading out) of the superior cerebellar peduncle.	http://purl.obolibrary.org/obo/HP_0030285		
OBO:HP_0030286	Atrophic superior cerebellar peduncle	biolink:OntologyClass	hp	UMLS:C4022535	Atrophy of the superior cerebellar peduncle.	http://purl.obolibrary.org/obo/HP_0030286		
OBO:HP_0030289	Flattened femoral epiphysis	biolink:OntologyClass	hp	UMLS:C1850642	An abnormal flattening of an epiphysis of femur.	http://purl.obolibrary.org/obo/HP_0030289		Flattended end part of thigh bone
OBO:HP_0030290	Unossified sacrum	biolink:OntologyClass	hp	UMLS:C2675562	Lack of ossification of the sacrum.	http://purl.obolibrary.org/obo/HP_0030290		Absence of sacrum ossification
OBO:HP_0030291	Lower-limb metaphyseal irregularity	biolink:OntologyClass	hp	UMLS:C4022534	Irregularity of the normally smooth surface of one or more metaphyses of a bone of the leg.	http://purl.obolibrary.org/obo/HP_0030291		
OBO:HP_0030292	Tibial metaphyseal irregularity	biolink:OntologyClass	hp	UMLS:C4022533	Irregularity of the normally smooth surface of a metaphysis of a tibia.	http://purl.obolibrary.org/obo/HP_0030292		
OBO:HP_0030293	Fibular metaphyseal irregularity	biolink:OntologyClass	hp	UMLS:C4022532	Irregularity of the normally smooth surface of a metaphysis of a fibula.	http://purl.obolibrary.org/obo/HP_0030293		Irregularity of wide portion of calf bone
OBO:HP_0030294	Metaphyseal chondromatosis of tibia	biolink:OntologyClass	hp	UMLS:C4022531		http://purl.obolibrary.org/obo/HP_0030294		
OBO:HP_0030295	Metaphyseal chondromatosis of femur	biolink:OntologyClass	hp	UMLS:C4022530		http://purl.obolibrary.org/obo/HP_0030295		
OBO:HP_0030296	Metaphyseal chondromatosis of radius	biolink:OntologyClass	hp	UMLS:C4022529		http://purl.obolibrary.org/obo/HP_0030296		
OBO:HP_0030297	Metaphyseal chondromatosis of ulna	biolink:OntologyClass	hp	UMLS:C4022528		http://purl.obolibrary.org/obo/HP_0030297		
OBO:HP_0030298	Metaphyseal chondromatosis of humerus	biolink:OntologyClass	hp	UMLS:C4021860		http://purl.obolibrary.org/obo/HP_0030298		
OBO:HP_0030299	Distal femoral metaphyseal abnormality	biolink:OntologyClass	hp	UMLS:C4022527	An anomaly of the metaphysis of the distal femur (close to the knee).	http://purl.obolibrary.org/obo/HP_0030299		Abnormality of wide portion of outermost thighbone
OBO:HP_0030300	10 pairs of ribs	biolink:OntologyClass	hp	UMLS:C4022526	Presence of only 10 (instead of the usual 12) pairs of ribs.	http://purl.obolibrary.org/obo/HP_0030300		10 pairs of ribs
OBO:HP_0030301	Abnormality of the anterior commissure	biolink:OntologyClass	hp	UMLS:C4022525	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.	http://purl.obolibrary.org/obo/HP_0030301		
OBO:HP_0030302	Agenesis of the anterior commissure	biolink:OntologyClass	hp	UMLS:C1851087	Absence of the anterior commissure.	http://purl.obolibrary.org/obo/HP_0030302		
OBO:HP_0030303	Hypoplastic anterior commissure	biolink:OntologyClass	hp	UMLS:C4022524	Underdevelopment of the anterior commissure.	http://purl.obolibrary.org/obo/HP_0030303		
OBO:HP_0030304	Abnormal number of vertebrae	biolink:OntologyClass	hp	UMLS:C4022523	A deviation from the normal number of vertebrae in the spinal column.	http://purl.obolibrary.org/obo/HP_0030304		
OBO:HP_0030305	Decreased number of vertebrae	biolink:OntologyClass	hp	UMLS:C4022522		http://purl.obolibrary.org/obo/HP_0030305		
OBO:HP_0030306	11 thoracic vertebrae	biolink:OntologyClass	hp	UMLS:C4022521	The presence of 11 instead of the normal 12 thoracic vertebrae.	http://purl.obolibrary.org/obo/HP_0030306		
OBO:HP_0030307	Flared lower limb metaphysis	biolink:OntologyClass	hp	UMLS:C4022520	The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the leg.	http://purl.obolibrary.org/obo/HP_0030307		Flared metaphysis of lower limb bone
OBO:HP_0030308	Flared distal tibial metaphysis	biolink:OntologyClass	hp	UMLS:C4022519	The presence of a splayed (i.e.,flared) metaphyseal segment of the distal tibia.	http://purl.obolibrary.org/obo/HP_0030308		Flared outermost metaphysis of shankbone|Flared outermost metaphysis of shinbone
OBO:HP_0030309	Flared distal fibular metaphysis	biolink:OntologyClass	hp	UMLS:C4022518	The presence of a splayed (i.e.,flared) metaphyseal segment of the distal fibula.	http://purl.obolibrary.org/obo/HP_0030309		Flared outermost wide portion of of calf bone
OBO:HP_0030310	Upper extremity joint dislocation	biolink:OntologyClass	hp	UMLS:C4022517	Displacement or malalignment of one or more joints in the upper extremity (arm).	http://purl.obolibrary.org/obo/HP_0030310		Dislocated arm joints
OBO:HP_0030311	Lower extremity joint dislocation	biolink:OntologyClass	hp	UMLS:C4022516	Displacement or malalignment of one or more joints in the lower extremity (leg).	http://purl.obolibrary.org/obo/HP_0030311		Dislocated leg joints
OBO:HP_0030312	Obliteration of the calvarial diploe	biolink:OntologyClass	hp	UMLS:C1860855	Absence of the spongy bone structure (or tissue) of the internal part of the skull cap (i.e., of the calvarial diploe).	http://purl.obolibrary.org/obo/HP_0030312		Obliteration of cranial cancellous bone
OBO:HP_0030313	Abnormal periosteum morphology	biolink:OntologyClass	hp	UMLS:C4022515	An anomalous structure of the periosteum, i.e., of the membrane that covers the outer surface of bones.	http://purl.obolibrary.org/obo/HP_0030313		
OBO:HP_0030314	Periostosis	biolink:OntologyClass	hp	UMLS:C1409412	Abnormal deposition of periosteal bone.	http://purl.obolibrary.org/obo/HP_0030314		
OBO:HP_0030318	Angular cheilitis	biolink:OntologyClass	hp	SNOMEDCT_US:266429005|UMLS:C0221237	A type of inflammation of the lips involving one or both of the corners of the mouth.	http://purl.obolibrary.org/obo/HP_0030318		Inflammation of corners of the mouth|Red and sore corners of the mouth|Angular cheilosis|Angular stomatitis|Commissural cheilitis|Inflammation of oral commisures
OBO:HP_0030319	Weakness of facial musculature	biolink:OntologyClass	hp	UMLS:C4022514	Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve).	http://purl.obolibrary.org/obo/HP_0030319		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
OBO:HP_0030320	Increased intervertebral space	biolink:OntologyClass	hp	UMLS:C4022513	An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disc space.	http://purl.obolibrary.org/obo/HP_0030320		
OBO:HP_0030321	Abnormal vertebral artery morphology	biolink:OntologyClass	hp	UMLS:C4022512	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.	http://purl.obolibrary.org/obo/HP_0030321		Abnormality of the vertebral artery
OBO:HP_0030322	Vertebral artery hypoplasia	biolink:OntologyClass	hp	UMLS:C1868737	Underdevelopment of the vertebral artery.	http://purl.obolibrary.org/obo/HP_0030322		
OBO:HP_0030323	Unilateral vertebral artery hypoplasia	biolink:OntologyClass	hp	UMLS:C3279090	Underdevelopment of the vertebral artery on one side.	http://purl.obolibrary.org/obo/HP_0030323		
OBO:HP_0030324	Bilateral vertebral artery hypoplasia	biolink:OntologyClass	hp	UMLS:C4022511	Underdevelopment of the vertebral artery on both sides.	http://purl.obolibrary.org/obo/HP_0030324		
OBO:HP_0030325	Cervicomedullary schisis	biolink:OntologyClass	hp	UMLS:C4022510	Fissure within the spinal cord of the neck.	http://purl.obolibrary.org/obo/HP_0030325		
OBO:HP_0030326	Abnormal macrophage count	biolink:OntologyClass	hp	UMLS:C4022509	An anomaly in the number of macrophages.	http://purl.obolibrary.org/obo/HP_0030326		
OBO:HP_0030327	Abnormal osteoclast count	biolink:OntologyClass	hp	UMLS:C4022508	An anomaly in the number of osteoclasts, bone-resorbing cells that develop from macrophages.	http://purl.obolibrary.org/obo/HP_0030327		
OBO:HP_0030328	Decreased osteoclast count	biolink:OntologyClass	hp	UMLS:C4022507	Decreased number of osteoclasts.	http://purl.obolibrary.org/obo/HP_0030328		
OBO:HP_0030329	Retinal thinning	biolink:OntologyClass	hp	UMLS:C3549703	Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT).	http://purl.obolibrary.org/obo/HP_0030329		Retinal thinning
OBO:HP_0030330	Multinucleated giant chondrocytes in epiphyseal cartilage	biolink:OntologyClass	hp	UMLS:C4022506	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.	http://purl.obolibrary.org/obo/HP_0030330		
OBO:HP_0030331	Impaired stimulus-induced skin wrinkling	biolink:OntologyClass	hp	UMLS:C4022505	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).	http://purl.obolibrary.org/obo/HP_0030331		
OBO:HP_0030332	obsolete Abnormal T cell morphology	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0030332		
OBO:HP_0030333	Abnormal alpha-beta T cell morphology	biolink:OntologyClass	hp	UMLS:C4022503	A structuraly anomaly of T cells that express an alpha-beta T cell receptor.	http://purl.obolibrary.org/obo/HP_0030333		
OBO:HP_0030334	Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology	biolink:OntologyClass	hp	UMLS:C4022502	A structural anomaly of a CD4-positive, CD25-positive, alpha-beta T cell. These cells are regulatory T cells.	http://purl.obolibrary.org/obo/HP_0030334		
OBO:HP_0030335	Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count	biolink:OntologyClass	hp	UMLS:C4021859	A deviation from the normal count of CD4-positive, CD25-positive, alpha-beta regulatory T cells.	http://purl.obolibrary.org/obo/HP_0030335		
OBO:HP_0030336	Absence of CD4-positive, CD25-positive regulatory T cells	biolink:OntologyClass	hp	UMLS:C4021039	Lack of CD4+CD25+ T regulatory cells.	http://purl.obolibrary.org/obo/HP_0030336		Absence of CD4+CD25+ T regulatory cells|Absence of CD4+CD25+ Tregs
OBO:HP_0030337	Elevated CD4-positive, CD25-positive regulatory T cell count	biolink:OntologyClass	hp	UMLS:C4022501	An increased number of CD4-positive, CD25-positive regulatory T cells.	http://purl.obolibrary.org/obo/HP_0030337		
OBO:HP_0030338	Abnormal circulating gonadotropin level	biolink:OntologyClass	hp	UMLS:C4072886	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).	http://purl.obolibrary.org/obo/HP_0030338		
OBO:HP_0030339	Decreased circulating gonadotropin level	biolink:OntologyClass	hp	UMLS:C4072887	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).	http://purl.obolibrary.org/obo/HP_0030339		
OBO:HP_0030340	obsolete Increased circulating gonadotropin level	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0030340		
OBO:HP_0030341	Decreased circulating follicle stimulating hormone level	biolink:OntologyClass	hp	UMLS:C4072889	A reduction of the circulating level of follicle-stimulating hormone (FSH).	http://purl.obolibrary.org/obo/HP_0030341		
OBO:HP_0030344	Decreased circulating luteinizing hormone level	biolink:OntologyClass	hp	UMLS:C4072890	A reduction in the circulating level of luteinizing hormone (LH).	http://purl.obolibrary.org/obo/HP_0030344		Decreased circulating luteinising hormone level
OBO:HP_0030345	Abnormal circulating luteinizing hormone level	biolink:OntologyClass	hp	SNOMEDCT_US:166374003|UMLS:C0580438	An anomaly of the circulating level of luteinizing hormone (LH).	http://purl.obolibrary.org/obo/HP_0030345		Abnormal luteinizing hormone level|Increased circulating lutropin
OBO:HP_0030346	Abnormal circulating follicle-stimulating hormone level	biolink:OntologyClass	hp	UMLS:C4072891	An anomaly of the circulating level of follicle-stimulating hormone (FSH).	http://purl.obolibrary.org/obo/HP_0030346		
OBO:HP_0030347	Abnormal circulating androgen level	biolink:OntologyClass	hp	UMLS:C4072892	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.	http://purl.obolibrary.org/obo/HP_0030347		
OBO:HP_0030348	Increased circulating androgen level	biolink:OntologyClass	hp	UMLS:C4072893	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.	http://purl.obolibrary.org/obo/HP_0030348		
OBO:HP_0030349	Decreased circulating androgen level	biolink:OntologyClass	hp	UMLS:C4072894	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.	http://purl.obolibrary.org/obo/HP_0030349		
OBO:HP_0030350	Erythematous papule	biolink:OntologyClass	hp	UMLS:C0747241	A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color.	http://purl.obolibrary.org/obo/HP_0030350		Red-blue papule
OBO:HP_0030351	Urticarial plaque	biolink:OntologyClass	hp	UMLS:C4072895	A well-circumscribed, intensely pruritic, raised wheal (edema of the superficial skin) typically 1 to 2 cm in diameter.	http://purl.obolibrary.org/obo/HP_0030351		
OBO:HP_0030352	Abnormal serum insulin-like growth factor 1 level	biolink:OntologyClass	hp	UMLS:C4072896	An anomalous level of insulin-like growth factor 1 (IGF1) in the blood circulation.	http://purl.obolibrary.org/obo/HP_0030352		
OBO:HP_0030353	Decreased serum insulin-like growth factor 1	biolink:OntologyClass	hp	UMLS:C4072897	A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation.	http://purl.obolibrary.org/obo/HP_0030353		
OBO:HP_0030354	Abnormal serum interferon level	biolink:OntologyClass	hp	UMLS:C4072898	Abnormal levels of interferon in the blood.	http://purl.obolibrary.org/obo/HP_0030354		
OBO:HP_0030355	Abnormal serum interferon-gamma level	biolink:OntologyClass	hp	UMLS:C4072899	Abnormal levels of interferon gamma measured in the blood circulation.	http://purl.obolibrary.org/obo/HP_0030355		
OBO:HP_0030356	Increased serum interferon-gamma level	biolink:OntologyClass	hp	UMLS:C4072900	An elevation in the concentration of interferon gamma measured in the blood circulation.	http://purl.obolibrary.org/obo/HP_0030356		
OBO:HP_0030357	Small cell lung carcinoma	biolink:OntologyClass	hp	MSH:D055752|SNOMEDCT_US:254632001|SNOMEDCT_US:254633006|UMLS:C0149925	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.	http://purl.obolibrary.org/obo/HP_0030357		Oat cell carcinoma of lung|Oat cell lung cancer|Small cell lung cancer
OBO:HP_0030358	Non-small cell lung carcinoma	biolink:OntologyClass	hp	MSH:D002289|SNOMEDCT_US:254637007|UMLS:C0007131		http://purl.obolibrary.org/obo/HP_0030358		Non-small cell lung cancer
OBO:HP_0030359	Squamous cell lung carcinoma	biolink:OntologyClass	hp	SNOMEDCT_US:254634000|UMLS:C0149782	A type of non-small cell lung carcinoma that is derived from stratified squamous epithelial cells.	http://purl.obolibrary.org/obo/HP_0030359		
OBO:HP_0030360	Large cell lung carcinoma	biolink:OntologyClass	hp	SNOMEDCT_US:254629004|UMLS:C0345958	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.	http://purl.obolibrary.org/obo/HP_0030360		
OBO:HP_0030361	Abnormal circulating eicosanoid concentration	biolink:OntologyClass	hp	UMLS:C4072901	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).	http://purl.obolibrary.org/obo/HP_0030361		Abnormality of icosanoid metabolism
OBO:HP_0030362	Reduced muscle carnitine level	biolink:OntologyClass	hp	UMLS:C4072902	A reduction in the level of carnitine in muscle tissue.	http://purl.obolibrary.org/obo/HP_0030362		
OBO:HP_0030363	Primary Caesarian section	biolink:OntologyClass	hp	UMLS:C4072903	Delivery by Caesarian section representing the first time the mother has delivered by Caesarian section.	http://purl.obolibrary.org/obo/HP_0030363		
OBO:HP_0030364	Secondary Caesarian section	biolink:OntologyClass	hp	UMLS:C4072904	Delivery by Caesarian section representing where the mother has already had a previous Cesarean delivery, and this is a repeat Cesarean birth.	http://purl.obolibrary.org/obo/HP_0030364		
OBO:HP_0030365	Vaginal birth after Caesarian	biolink:OntologyClass	hp	MSH:D016064|UMLS:C0080301	Vaginal birth after Caesarian (VBAC) refers to the situation where the mother has had a previous Cesarean delivery but has now delivered vaginally.	http://purl.obolibrary.org/obo/HP_0030365		
OBO:HP_0030366	Delivery by Odon device	biolink:OntologyClass	hp	UMLS:C4072905	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.	http://purl.obolibrary.org/obo/HP_0030366		
OBO:HP_0030367	Finger hyperphalangy	biolink:OntologyClass	hp	UMLS:C4072906	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.	http://purl.obolibrary.org/obo/HP_0030367		
OBO:HP_0030368	Hyperphalangy of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4072907	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.	http://purl.obolibrary.org/obo/HP_0030368		Hyperphalangy of index finger
OBO:HP_0030369	Induced vaginal delivery	biolink:OntologyClass	hp	UMLS:C4072908	Vaginal delivery following induction of labor, a procedure used to stimulate uterine contractions during pregnancy before labor begins on its own.	http://purl.obolibrary.org/obo/HP_0030369		
OBO:HP_0030370	Abnormal proportion of naive B cells	biolink:OntologyClass	hp	UMLS:C4072909	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.	http://purl.obolibrary.org/obo/HP_0030370		
OBO:HP_0030371	Increased proportion of naive B cells	biolink:OntologyClass	hp	UMLS:C4072910	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.	http://purl.obolibrary.org/obo/HP_0030371		
OBO:HP_0030372	Decreased proportion of naive B cells	biolink:OntologyClass	hp	UMLS:C4072911	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.	http://purl.obolibrary.org/obo/HP_0030372		
OBO:HP_0030373	Abnormal proportion of memory B cells	biolink:OntologyClass	hp	UMLS:C4072912	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).	http://purl.obolibrary.org/obo/HP_0030373		
OBO:HP_0030374	Decreased proportion of memory B cells	biolink:OntologyClass	hp	UMLS:C4072913	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).	http://purl.obolibrary.org/obo/HP_0030374		
OBO:HP_0030375	Increased proportion of memory B cells	biolink:OntologyClass	hp	UMLS:C4072914	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).	http://purl.obolibrary.org/obo/HP_0030375		
OBO:HP_0030376	Abnormal proportion of immature B cells	biolink:OntologyClass	hp	UMLS:C4072915	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+).	http://purl.obolibrary.org/obo/HP_0030376		Abnormal proportion of CD19+/CD21low B cells
OBO:HP_0030377	Increased proportion of immature B cells	biolink:OntologyClass	hp	UMLS:C4072916	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+).	http://purl.obolibrary.org/obo/HP_0030377		Increased proportion of CD19+/CD21low B cells
OBO:HP_0030378	Decreased proportion of immature B cells	biolink:OntologyClass	hp	UMLS:C4072917	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+).	http://purl.obolibrary.org/obo/HP_0030378		Decreased proportion of CD19+/CD21low B cells
OBO:HP_0030379	Abnormal proportion of transitional B cells	biolink:OntologyClass	hp	UMLS:C4072918	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.	http://purl.obolibrary.org/obo/HP_0030379		Abnormal proportion of CD19+CD38+IgM+ cells
OBO:HP_0030380	Decreased proportion of transitional B cells	biolink:OntologyClass	hp	UMLS:C4072919	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.	http://purl.obolibrary.org/obo/HP_0030380		Decreased proportion of CD19+CD38+IgM+ cells
OBO:HP_0030381	Increased proportion of transitional B cells	biolink:OntologyClass	hp	UMLS:C4072920	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.	http://purl.obolibrary.org/obo/HP_0030381		Increased proportion of CD19+CD38+IgM+ cells
OBO:HP_0030383	Abnormal proportion of marginal zone B cells	biolink:OntologyClass	hp	UMLS:C4072921	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.	http://purl.obolibrary.org/obo/HP_0030383		
OBO:HP_0030384	Decreased proportion of marginal zone B cells	biolink:OntologyClass	hp	UMLS:C4072922	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.	http://purl.obolibrary.org/obo/HP_0030384		
OBO:HP_0030385	Increased proportion of marginal zone B cells	biolink:OntologyClass	hp	UMLS:C4072923	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.	http://purl.obolibrary.org/obo/HP_0030385		
OBO:HP_0030386	Abnormal proportion of class-switched memory B cells	biolink:OntologyClass	hp	UMLS:C4072924	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.	http://purl.obolibrary.org/obo/HP_0030386		Abnormal proportion of CD19+CD27+IgD- cells
OBO:HP_0030387	Increased proportion of class-switched memory B cells	biolink:OntologyClass	hp	UMLS:C4073288	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.	http://purl.obolibrary.org/obo/HP_0030387		Increased proportion of CD19+CD27+IgD- cells
OBO:HP_0030388	Decreased proportion of class-switched memory B cells	biolink:OntologyClass	hp	UMLS:C4072925	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.	http://purl.obolibrary.org/obo/HP_0030388		Decreased proportion of CD19+CD27+IgD- cells
OBO:HP_0030389	Abnormal circulating thromboxane concentration	biolink:OntologyClass	hp	UMLS:C4072926	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.	http://purl.obolibrary.org/obo/HP_0030389		
OBO:HP_0030390	Reduced circulating leukotriene C4 concentration	biolink:OntologyClass	hp	UMLS:C4072927	An abnormally decreased concentration of leukotriene C4 in the blood circulation.	http://purl.obolibrary.org/obo/HP_0030390		
OBO:HP_0030391	Spoken Word Recognition Deficit	biolink:OntologyClass	hp	UMLS:C4072928	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.	http://purl.obolibrary.org/obo/HP_0030391		
OBO:HP_0030392	Choroid plexus carcinoma	biolink:OntologyClass	hp	MSH:C562943|SNOMEDCT_US:88252006|UMLS:C0431109	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.	http://purl.obolibrary.org/obo/HP_0030392		
OBO:HP_0030393	Endolymphatic sac tumor	biolink:OntologyClass	hp	SNOMEDCT_US:699817008|UMLS:C2348239	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).	http://purl.obolibrary.org/obo/HP_0030393		Endolymphatic sac tumour|Aggressive papillary middle ear tumor|Heffner tumor|Low-grade adenocarcinoma of endolymphatic sac origin
OBO:HP_0030394	Fallopian tube carcinoma	biolink:OntologyClass	hp	MSH:D005185|SNOMEDCT_US:276870001|UMLS:C0238122	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.	http://purl.obolibrary.org/obo/HP_0030394		
OBO:HP_0030396	Abnormal platelet granule secretion	biolink:OntologyClass	hp	UMLS:C4072929	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.	http://purl.obolibrary.org/obo/HP_0030396		
OBO:HP_0030397	Abnormal platelet dense granule secretion	biolink:OntologyClass	hp	UMLS:C4072930	Abnormal release of dense granules from platelets.	http://purl.obolibrary.org/obo/HP_0030397		
OBO:HP_0030398	Abnormal platelet ATP dense granule secretion	biolink:OntologyClass	hp	UMLS:C4072931	Abnormal secretion of the platelet dense-granule content adenosine triphosphate (ATP).	http://purl.obolibrary.org/obo/HP_0030398		
OBO:HP_0030399	Abnormal platelet alpha granule secretion	biolink:OntologyClass	hp	UMLS:C4072932	Abnormal release of alpha granule contents from platelets.	http://purl.obolibrary.org/obo/HP_0030399		
OBO:HP_0030400	Abnormal platelet lysosome secretion	biolink:OntologyClass	hp	UMLS:C4072933	Abnormal release of lysosome contents from platelets.	http://purl.obolibrary.org/obo/HP_0030400		
OBO:HP_0030401	Abnormal platelet dense granule ATP/ADP ratio	biolink:OntologyClass	hp	UMLS:C4072934	Deviation from normal of the ratio of adenosine triphosphate (ATP) to adenosine diphosphate (ADP) within platelets.	http://purl.obolibrary.org/obo/HP_0030401		
OBO:HP_0030402	Abnormal platelet aggregation	biolink:OntologyClass	hp	UMLS:C0541767	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.	http://purl.obolibrary.org/obo/HP_0030402		
OBO:HP_0030403	Spontaneous platelet aggregation	biolink:OntologyClass	hp	MSH:C566800|UMLS:C1868263	Clumping together of platelets in the blood in a platelet aggregation test without addition of agents normally used to induce aggregation.	http://purl.obolibrary.org/obo/HP_0030403		
OBO:HP_0030404	Glucagonoma	biolink:OntologyClass	hp	MSH:D005935|SNOMEDCT_US:128855009|SNOMEDCT_US:16424000|SNOMEDCT_US:302823005|UMLS:C0017689	An endocrine tumor of the pancreas that secretes excessive amounts of glucagon.	http://purl.obolibrary.org/obo/HP_0030404		
OBO:HP_0030405	Pancreatic endocrine tumor	biolink:OntologyClass	hp	MSH:D007516|SNOMEDCT_US:126864006|SNOMEDCT_US:128878003|SNOMEDCT_US:237596009|SNOMEDCT_US:399528006|SNOMEDCT_US:76345009|UMLS:C0242363	A neuroendocrine tumor originating in a hormone-producing cell (islet cell) of the pancreas.	http://purl.obolibrary.org/obo/HP_0030405		Pancreatic endocrine tumour
OBO:HP_0030406	Primary peritoneal carcinoma	biolink:OntologyClass	hp	UMLS:C1514428	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.	http://purl.obolibrary.org/obo/HP_0030406		
OBO:HP_0030407	Pineocytoma	biolink:OntologyClass	hp	MSH:D010871|NCIT:C6966|SNOMEDCT_US:255045009|SNOMEDCT_US:89096009|UMLS:C0917890	A type of pineal parenchymal cell neoplasm that is a mature well-differentiated tumour (WHO grade I).	http://purl.obolibrary.org/obo/HP_0030407		
OBO:HP_0030408	Pineoblastoma	biolink:OntologyClass	hp	MSH:D010871|SNOMEDCT_US:31671006|UMLS:C0205898	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.	http://purl.obolibrary.org/obo/HP_0030408		Pinealoblastoma
OBO:HP_0030409	Renal transitional cell carcinoma	biolink:OntologyClass	hp	SNOMEDCT_US:408642003|UMLS:C1319314	A malignant tumor that arises from the transitional (urothelial) epithelial cells lining the urinary tract from the renal calyces to the ureteral orifice.	http://purl.obolibrary.org/obo/HP_0030409		Renal urothelial carcinoma|Transitional renal cell carcinoma|renal TCC
OBO:HP_0030410	Sebaceous gland carcinoma	biolink:OntologyClass	hp	MSH:D018266|SNOMEDCT_US:307599002|SNOMEDCT_US:54734006|UMLS:C0206684	A carcinoma that arises in a sebaseous gland (an exocrine gland of the skin that secretes sebum, a waxy substance)	http://purl.obolibrary.org/obo/HP_0030410		Sebaceous carcinoma
OBO:HP_0030411	Jejunal adenocarcinoma	biolink:OntologyClass	hp	NCIT:C2852|UMLS:C4072935	A malignant epithelial tumor with a glandular organization that originates in the jejunum.	http://purl.obolibrary.org/obo/HP_0030411		
OBO:HP_0030412	Ileal adenocarcinoma	biolink:OntologyClass	hp	NCIT:C2852|UMLS:C4072936	A malignant epithelial tumor with a glandular organization that originates in the ileum.	http://purl.obolibrary.org/obo/HP_0030412		
OBO:HP_0030413	Squamous cell carcinoma of the tongue	biolink:OntologyClass	hp	SNOMEDCT_US:276952000|UMLS:C0349566	A carcinoma derived from a squamous epithelial cell of the tongue.	http://purl.obolibrary.org/obo/HP_0030413		
OBO:HP_0030414	Verrucous cell carcinoma of the tongue	biolink:OntologyClass	hp	UMLS:C4072937	A low-grade variant of squamous cell carcinoma of the tongue with a warty (verrucous) appearance.	http://purl.obolibrary.org/obo/HP_0030414		
OBO:HP_0030415	Sarcomatoid carcinoma of the tongue	biolink:OntologyClass	hp	UMLS:C2018408	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.	http://purl.obolibrary.org/obo/HP_0030415		Spindle cell carcinoma of the tongue
OBO:HP_0030416	Vulvar neoplasm	biolink:OntologyClass	hp	MSH:D014846|NCIT:C3262|SNOMEDCT_US:126922007|UMLS:C0042995	A tumor (abnormal growth of tissue) of the female external genital tract (vulva).	http://purl.obolibrary.org/obo/HP_0030416		Tumor of the vulva|Neoplasm of the vulva
OBO:HP_0030417	Squamous cell carcinoma of the vulva	biolink:OntologyClass	hp	SNOMEDCT_US:254895003|UMLS:C0280856	A cancer that originates in the squamous cells that line the surface of the vulva.	http://purl.obolibrary.org/obo/HP_0030417		Vulval squamous cell carcinoma
OBO:HP_0030418	Vulvar melanoma	biolink:OntologyClass	hp	SNOMEDCT_US:254896002|UMLS:C0241989	A type of vulvar cancer that originates from melanocytes of the vulva.	http://purl.obolibrary.org/obo/HP_0030418		
OBO:HP_0030419	Bartholin gland carcinoma	biolink:OntologyClass	hp	SNOMEDCT_US:276876007|SNOMEDCT_US:399533005|UMLS:C0349561	A cancer arising in a cell of the Bartholin gland, a racemose gland located slightly posterior to the opening of the vagina.	http://purl.obolibrary.org/obo/HP_0030419		
OBO:HP_0030420	Vulvar adenocarcinoma	biolink:OntologyClass	hp	UMLS:C1336975	An adenocarcinoma arising in the vulva.	http://purl.obolibrary.org/obo/HP_0030420		
OBO:HP_0030421	Epididymal neoplasm	biolink:OntologyClass	hp	NCIT:C3262|SNOMEDCT_US:126902008|UMLS:C0346239	A tumor (abnormal growth of tissue) of the epididymis, an duct that transports spermatozoa from the testis to the vas deferens.	http://purl.obolibrary.org/obo/HP_0030421		
OBO:HP_0030422	obsolete Papillary cystadenoma of the epididymis	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0030422		
OBO:HP_0030423	Splenic cyst	biolink:OntologyClass	hp	SNOMEDCT_US:79040006|UMLS:C0272407	A closed sac located in the spleen.	http://purl.obolibrary.org/obo/HP_0030423		Cyst on spleen
OBO:HP_0030424	Epididymal cyst	biolink:OntologyClass	hp	MSH:D013088|SNOMEDCT_US:43077002|SNOMEDCT_US:49263001|UMLS:C0037859	A smooth, extratesticular, spherical cyst in the head of the epididymis.	http://purl.obolibrary.org/obo/HP_0030424		Epididymal cysts
OBO:HP_0030425	Calcified ovarian cyst	biolink:OntologyClass	hp	UMLS:C4072939	A cyst of the ovary that exhibits deposition of calcium salts.	http://purl.obolibrary.org/obo/HP_0030425		
OBO:HP_0030426	Ossifying fibroma	biolink:OntologyClass	hp	MSH:D018214|SNOMEDCT_US:25603007|SNOMEDCT_US:302862001|SNOMEDCT_US:302863006|SNOMEDCT_US:80699009|UMLS:C0206640	A benign central bone tumor composed of fibrous connective tissue within which bone is formed.	http://purl.obolibrary.org/obo/HP_0030426		
OBO:HP_0030427	Ossifying fibroma of the jaw	biolink:OntologyClass	hp	UMLS:C4072940	A benign central bone tumor of the jaw composed of fibrous connective tissue within which bone is formed.	http://purl.obolibrary.org/obo/HP_0030427		
OBO:HP_0030428	Cutaneous myxoma	biolink:OntologyClass	hp	NCIT:C6577|UMLS:C1333178	A myxoma originating in the skin.	http://purl.obolibrary.org/obo/HP_0030428		
OBO:HP_0030429	Juvenile nasopharyngeal angiofibroma	biolink:OntologyClass	hp	SNOMEDCT_US:60392001|SNOMEDCT_US:716590006|UMLS:C1367536	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.	http://purl.obolibrary.org/obo/HP_0030429		
OBO:HP_0030430	Neuroma	biolink:OntologyClass	hp	MSH:D009463|SNOMEDCT_US:25169009|SNOMEDCT_US:274089002|SNOMEDCT_US:443892003|SNOMEDCT_US:84116009|UMLS:C0027858|UMLS:C0273482	A tumor made up of nerve cells and nerve fibers.	http://purl.obolibrary.org/obo/HP_0030430		Nerve tumor|Pinched nerve
OBO:HP_0030431	Osteochondroma	biolink:OntologyClass	hp	MSH:D015831|SNOMEDCT_US:307573009|SNOMEDCT_US:443093007|SNOMEDCT_US:52299001|UMLS:C0029423	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.	http://purl.obolibrary.org/obo/HP_0030431		Osteocartilaginous exostoses|Osteochondromas
OBO:HP_0030432	Chondroblastoma	biolink:OntologyClass	hp	MSH:D002804|SNOMEDCT_US:9001003|UMLS:C0008441	A usually benign tumor composed of cells which arise from chondroblasts or their precursors and which tend to differentiate into cartilage cells.	http://purl.obolibrary.org/obo/HP_0030432		
OBO:HP_0030433	Osteoid osteoma	biolink:OntologyClass	hp	MSH:D010017|SNOMEDCT_US:302859004|SNOMEDCT_US:71666005|UMLS:C0029441	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.	http://purl.obolibrary.org/obo/HP_0030433		
OBO:HP_0030434	Pilomatrixoma	biolink:OntologyClass	hp	MSH:D018296|SNOMEDCT_US:274901004|SNOMEDCT_US:44155009|UMLS:C0206711	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.	http://purl.obolibrary.org/obo/HP_0030434		
OBO:HP_0030436	Fibrofolliculoma	biolink:OntologyClass	hp	SNOMEDCT_US:128683008|SNOMEDCT_US:254699007|UMLS:C0346011	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.	http://purl.obolibrary.org/obo/HP_0030436		Fibrofolliculomas
OBO:HP_0030437	Anal canal neoplasm	biolink:OntologyClass	hp	NCIT:C3262|SNOMEDCT_US:126850006|UMLS:C0345883		http://purl.obolibrary.org/obo/HP_0030437		Anal canal tumor
OBO:HP_0030438	Anal canal squamous cell carcinoma	biolink:OntologyClass	hp	UMLS:C1332262	A squamous cell carcinoma that originates in the anal canal.	http://purl.obolibrary.org/obo/HP_0030438		
OBO:HP_0030439	Anal canal adenocarcinoma	biolink:OntologyClass	hp	NCIT:C2852|UMLS:C1332259	An adenoma carcinoma that originates in the anal canal.	http://purl.obolibrary.org/obo/HP_0030439		
OBO:HP_0030440	Anal margin neoplasm	biolink:OntologyClass	hp	UMLS:C2064234	A tumor of the anal margin.	http://purl.obolibrary.org/obo/HP_0030440		
OBO:HP_0030441	Anal margin Paget's disease	biolink:OntologyClass	hp	UMLS:C1332270	An intraepithelial adenocarcinoma originating in the anal margin and characterized by presence of typical Paget's cells, appearing as large rounded vacuolated cells.	http://purl.obolibrary.org/obo/HP_0030441		
OBO:HP_0030442	Anal margin squamous cell carcinoma	biolink:OntologyClass	hp	SNOMEDCT_US:255084004|UMLS:C1412037	A squamous cell carcinoma that originates in the skin of the anal margin.	http://purl.obolibrary.org/obo/HP_0030442		
OBO:HP_0030443	Anal margin basal cell carcinoma	biolink:OntologyClass	hp	UMLS:C1332269	A basal cell carcinoma that originates in the anal margin.	http://purl.obolibrary.org/obo/HP_0030443		
OBO:HP_0030444	Anal margin melanoma	biolink:OntologyClass	hp	UMLS:C4072941	A melanoma that originates in the anal margin.	http://purl.obolibrary.org/obo/HP_0030444		
OBO:HP_0030445	Pulmonary carcinoid tumor	biolink:OntologyClass	hp	SNOMEDCT_US:254627002|UMLS:C0280089	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.	http://purl.obolibrary.org/obo/HP_0030445		Pulmonary carcinoid tumour|Lung carcinoid tumor
OBO:HP_0030446	Atypical pulmonary carcinoid tumor	biolink:OntologyClass	hp	UMLS:C4072942		http://purl.obolibrary.org/obo/HP_0030446		Atypical pulmonary carcinoid tumour
OBO:HP_0030447	Merkel cell skin cancer	biolink:OntologyClass	hp	MSH:D015266|SNOMEDCT_US:253001006|SNOMEDCT_US:254729005|SNOMEDCT_US:5052009|UMLS:C0007129	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.	http://purl.obolibrary.org/obo/HP_0030447		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
OBO:HP_0030448	Soft tissue sarcoma	biolink:OntologyClass	hp	MSH:D012509|SNOMEDCT_US:2424003|SNOMEDCT_US:269469005|SNOMEDCT_US:424413001|SNOMEDCT_US:424952003|UMLS:C1261473	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.	http://purl.obolibrary.org/obo/HP_0030448		Soft tissue sarcomas
OBO:HP_0030449	Therapeutic abortion	biolink:OntologyClass	hp	MSH:D000032|SNOMEDCT_US:386641000|UMLS:C0000820	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.	http://purl.obolibrary.org/obo/HP_0030449		
OBO:HP_0030450	Neuroplasm of the autonomic nervous system	biolink:OntologyClass	hp	NCIT:C5112|UMLS:C4072943	A tumor that arises from an element of the autonomic nervous system.	http://purl.obolibrary.org/obo/HP_0030450		
OBO:HP_0030451	Mesenteric cyst	biolink:OntologyClass	hp	MSH:D008639|SNOMEDCT_US:253802003|SNOMEDCT_US:27970007|UMLS:C0025467	A closed fluid filled sac originating from the mesentary.	http://purl.obolibrary.org/obo/HP_0030451		
OBO:HP_0030452	Chylolymphatic mesenteric cyst	biolink:OntologyClass	hp	UMLS:C4072944	A type of mesenteric cyst that is lined with a thin endothelium or mesothelium and filled with chylous and lymphatic fluid.	http://purl.obolibrary.org/obo/HP_0030452		
OBO:HP_0030453	Abnormal visual electrophysiology	biolink:OntologyClass	hp	UMLS:C4072945		http://purl.obolibrary.org/obo/HP_0030453		
OBO:HP_0030454	Abnormal electrooculogram	biolink:OntologyClass	hp	SNOMEDCT_US:442770004|UMLS:C0159104	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.	http://purl.obolibrary.org/obo/HP_0030454		Abnormal EOG
OBO:HP_0030455	Abnormality of pattern visual evoked potentials	biolink:OntologyClass	hp	UMLS:C4072946		http://purl.obolibrary.org/obo/HP_0030455		
OBO:HP_0030456	Abnormality of pattern onset/offset visual evoked potentials	biolink:OntologyClass	hp	UMLS:C4072947		http://purl.obolibrary.org/obo/HP_0030456		Abnormality of pattern onset/offset VEP
OBO:HP_0030457	Abnormal amplitude of pattern onset/offset visual evoked potentials	biolink:OntologyClass	hp	UMLS:C4072948		http://purl.obolibrary.org/obo/HP_0030457		Abnormal amplitude of pattern onset/offset VEP
OBO:HP_0030458	Abnormal timing of pattern onset/offset visual evoked potentials	biolink:OntologyClass	hp	UMLS:C4072949		http://purl.obolibrary.org/obo/HP_0030458		
OBO:HP_0030460	Abnormal timing of pattern reversal visual evoked potentials	biolink:OntologyClass	hp	UMLS:C4072950		http://purl.obolibrary.org/obo/HP_0030460		
OBO:HP_0030461	Abnormal timing of flash visual evoked potentials	biolink:OntologyClass	hp	UMLS:C4072951		http://purl.obolibrary.org/obo/HP_0030461		
OBO:HP_0030462	Abnormal amplitude of flash visual evoked potentials	biolink:OntologyClass	hp	UMLS:C4072952		http://purl.obolibrary.org/obo/HP_0030462		
OBO:HP_0030463	Asymmetrical distribution of flash visual evoked potentials	biolink:OntologyClass	hp	UMLS:C4072953		http://purl.obolibrary.org/obo/HP_0030463		Crossed asymmetry of flash visual evoked potentials
OBO:HP_0030464	Asymmetrical distribution of pattern reversal visual evoked potentials	biolink:OntologyClass	hp	UMLS:C4072954		http://purl.obolibrary.org/obo/HP_0030464		Crossed asymmetry of pattern reversal visual evoked potentials
OBO:HP_0030465	Undetectable light-adapted electroretinogram	biolink:OntologyClass	hp	UMLS:C4072955	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.	http://purl.obolibrary.org/obo/HP_0030465		Absent photopic (cone) responses on ERG|non-detectable photopic ERG
OBO:HP_0030466	Abnormal full-field electroretinogram	biolink:OntologyClass	hp	UMLS:C4072956		http://purl.obolibrary.org/obo/HP_0030466		
OBO:HP_0030467	Abnormal pattern electroretinogram	biolink:OntologyClass	hp	UMLS:C4072957	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.	http://purl.obolibrary.org/obo/HP_0030467		
OBO:HP_0030468	Abnormal multifocal electroretinogram	biolink:OntologyClass	hp	UMLS:C4072958		http://purl.obolibrary.org/obo/HP_0030468		
OBO:HP_0030469	Abnormal dark-adapted electroretinogram	biolink:OntologyClass	hp	UMLS:C4072959		http://purl.obolibrary.org/obo/HP_0030469		
OBO:HP_0030470	Abnormal dark-adapted bright flash electroretinogram	biolink:OntologyClass	hp	UMLS:C4072960		http://purl.obolibrary.org/obo/HP_0030470		
OBO:HP_0030471	Abnormal dark-adapted dim flash electroretinogram	biolink:OntologyClass	hp	UMLS:C4072961		http://purl.obolibrary.org/obo/HP_0030471		
OBO:HP_0030472	Abnormal light-adapted single flash electroretinogram	biolink:OntologyClass	hp	UMLS:C4072962		http://purl.obolibrary.org/obo/HP_0030472		
OBO:HP_0030473	Abnormal light-adapted flicker electroretinogram	biolink:OntologyClass	hp	UMLS:C4072963		http://purl.obolibrary.org/obo/HP_0030473		Abnormal light-adapted 30Hz flicker ERG|Abnormal light-adapted flicker ERG|Abnormal light-adapted 30Hz flicker electroretinogram|Abnormal light-adapted flicker electroretinogram
OBO:HP_0030474	Undetectable dark-adapted electroretinogram	biolink:OntologyClass	hp	UMLS:C4072964		http://purl.obolibrary.org/obo/HP_0030474		
OBO:HP_0030475	Abnormal timing of dark-adapted dim flash electroretinogram	biolink:OntologyClass	hp	UMLS:C4072965		http://purl.obolibrary.org/obo/HP_0030475		
OBO:HP_0030476	Abnormal amplitude of dark-adapted dim flash electroretinogram	biolink:OntologyClass	hp	UMLS:C4072966		http://purl.obolibrary.org/obo/HP_0030476		
OBO:HP_0030477	Abnormal timing of dark-adapted bright flash electroretinogram	biolink:OntologyClass	hp	UMLS:C4072967		http://purl.obolibrary.org/obo/HP_0030477		
OBO:HP_0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	biolink:OntologyClass	hp	UMLS:C4072968		http://purl.obolibrary.org/obo/HP_0030478		
OBO:HP_0030479	Abnormal amplitude of light-adapted flicker electroretinogram	biolink:OntologyClass	hp	UMLS:C4072969		http://purl.obolibrary.org/obo/HP_0030479		
OBO:HP_0030480	Abnormal timing of light-adapted flicker electroretinogram	biolink:OntologyClass	hp	UMLS:C4072970		http://purl.obolibrary.org/obo/HP_0030480		
OBO:HP_0030481	Abnormal amplitude of light-adapted single flash electroretinogram	biolink:OntologyClass	hp	UMLS:C4072971		http://purl.obolibrary.org/obo/HP_0030481		
OBO:HP_0030482	Abnormal timing of light-adapted single flash electroretinogram	biolink:OntologyClass	hp	UMLS:C4072972		http://purl.obolibrary.org/obo/HP_0030482		
OBO:HP_0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	biolink:OntologyClass	hp	UMLS:C4072973	An abnormal reduction in the amplitude of the a-wave.	http://purl.obolibrary.org/obo/HP_0030483		
OBO:HP_0030484	Supernormal dark-adapted bright flash electroretinogram b-wave	biolink:OntologyClass	hp	UMLS:C4072974		http://purl.obolibrary.org/obo/HP_0030484		
OBO:HP_0030485	Abnormal amplitude of pattern electroretinogram	biolink:OntologyClass	hp	UMLS:C4072975		http://purl.obolibrary.org/obo/HP_0030485		
OBO:HP_0030486	Abnormal timing of pattern electroretinogram	biolink:OntologyClass	hp	UMLS:C4072976		http://purl.obolibrary.org/obo/HP_0030486		
OBO:HP_0030487	Abnormal P50/N95 ratio of pattern electroretinogram	biolink:OntologyClass	hp	UMLS:C4072977		http://purl.obolibrary.org/obo/HP_0030487		
OBO:HP_0030488	Abnormal central response of multifocal electroretinogram	biolink:OntologyClass	hp	UMLS:C4072978		http://purl.obolibrary.org/obo/HP_0030488		
OBO:HP_0030489	Abnormal paracentral response of multifocal electroretinogram	biolink:OntologyClass	hp	UMLS:C4072979		http://purl.obolibrary.org/obo/HP_0030489		
OBO:HP_0030490	Exudative vitreoretinopathy	biolink:OntologyClass	hp	UMLS:C4072980		http://purl.obolibrary.org/obo/HP_0030490		
OBO:HP_0030491	Choriocapillaris atrophy	biolink:OntologyClass	hp	UMLS:C3275758	Atrophy of the capillary lamina of choroid.	http://purl.obolibrary.org/obo/HP_0030491		
OBO:HP_0030493	Abnormality of foveal pigmentation	biolink:OntologyClass	hp	UMLS:C4072981	An anomaly of the pigmentation in the fovea centralis.	http://purl.obolibrary.org/obo/HP_0030493		
OBO:HP_0030494	Macular microaneurysm/hemorrhage	biolink:OntologyClass	hp	UMLS:C4072982	Small, red dots in the superficial retinal layers (it is difficult to distinguish between small hemorrhages and microaneurysms).	http://purl.obolibrary.org/obo/HP_0030494		
OBO:HP_0030495	Abnormality morphology of the macular vasculature	biolink:OntologyClass	hp	UMLS:C4072983	Any structural anomaly of the blood vessels of the macula.	http://purl.obolibrary.org/obo/HP_0030495		Abnormality of macular vasculature
OBO:HP_0030496	Macular exudate	biolink:OntologyClass	hp	UMLS:C4072984	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.	http://purl.obolibrary.org/obo/HP_0030496		Macular exudates|Macular exudation
OBO:HP_0030497	Macular cotton wool spot	biolink:OntologyClass	hp	UMLS:C4072985	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.	http://purl.obolibrary.org/obo/HP_0030497		
OBO:HP_0030498	Macular thickening	biolink:OntologyClass	hp	UMLS:C4072986	Abnormal increase in retinal thickness in the macular area observed on fundoscopy or fundus imaging.	http://purl.obolibrary.org/obo/HP_0030498		
OBO:HP_0030499	Macular drusen	biolink:OntologyClass	hp	SNOMEDCT_US:247154004|UMLS:C0677628	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.	http://purl.obolibrary.org/obo/HP_0030499		Lipid accumulation in macula
OBO:HP_0030500	Yellow/white lesions of the macula	biolink:OntologyClass	hp	UMLS:C4072987		http://purl.obolibrary.org/obo/HP_0030500		
OBO:HP_0030501	Macular crystals	biolink:OntologyClass	hp	UMLS:C4072988	Crystalline deposits in the macula.	http://purl.obolibrary.org/obo/HP_0030501		
OBO:HP_0030502	Retinoschisis	biolink:OntologyClass	hp	MSH:D041441|SNOMEDCT_US:44268007|UMLS:C0152439	Splitting of the neuroretinal layers of the retina.	http://purl.obolibrary.org/obo/HP_0030502		
OBO:HP_0030503	Macular telangiectasia	biolink:OntologyClass	hp	SNOMEDCT_US:232024000|UMLS:C0339480		http://purl.obolibrary.org/obo/HP_0030503		Juxtafoveal telangiectasia|Parafoveal telangiectasia
OBO:HP_0030504	Grouped congenital hypertrophy of retinal pigment epithelium	biolink:OntologyClass	hp	UMLS:C4072989		http://purl.obolibrary.org/obo/HP_0030504		Bear track congenital hypertrophy of retinal pigment epithelium
OBO:HP_0030505	Nummular pigmentation of the fundus	biolink:OntologyClass	hp	UMLS:C4072990	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.	http://purl.obolibrary.org/obo/HP_0030505		Nummular pigmentation of the retina
OBO:HP_0030506	Yellow/white lesions of the retina	biolink:OntologyClass	hp	UMLS:C4072991		http://purl.obolibrary.org/obo/HP_0030506		
OBO:HP_0030507	Retinal crystals	biolink:OntologyClass	hp	UMLS:C4072992	Crystalline deposits in the retina.	http://purl.obolibrary.org/obo/HP_0030507		
OBO:HP_0030508	Retinal cavernous hemangioma	biolink:OntologyClass	hp	SNOMEDCT_US:312937006|UMLS:C0730304		http://purl.obolibrary.org/obo/HP_0030508		Retinal cavernous haemangioma
OBO:HP_0030509	Retinal racemose hemangioma	biolink:OntologyClass	hp	UMLS:C4072993		http://purl.obolibrary.org/obo/HP_0030509		Retinal racemose haemangioma
OBO:HP_0030510	Combined hamartoma of the retinal pigment epithelium and retina	biolink:OntologyClass	hp	UMLS:C1862062		http://purl.obolibrary.org/obo/HP_0030510		
OBO:HP_0030511	Bradyopsia	biolink:OntologyClass	hp	MSH:C564243|SNOMEDCT_US:711163009|UMLS:C1842073	Difficulty in seeing moving objects.	http://purl.obolibrary.org/obo/HP_0030511		Difficulty seeing moving objects
OBO:HP_0030512	Difficulty adjusting to changes in luminance	biolink:OntologyClass	hp	UMLS:C4072994		http://purl.obolibrary.org/obo/HP_0030512		
OBO:HP_0030513	Difficulty adjusting from light to dark	biolink:OntologyClass	hp	UMLS:C4072995		http://purl.obolibrary.org/obo/HP_0030513		
OBO:HP_0030514	Difficulty adjusting from dark to light	biolink:OntologyClass	hp	UMLS:C4072996		http://purl.obolibrary.org/obo/HP_0030514		
OBO:HP_0030515	Moderately reduced visual acuity	biolink:OntologyClass	hp	SNOMEDCT_US:397542006|UMLS:C1301510	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).	http://purl.obolibrary.org/obo/HP_0030515		Moderate visual impairment|Moderate reduction in visual acuity|Moderate vision loss|Moderate visual loss
OBO:HP_0030516	Homonymous hemianopia	biolink:OntologyClass	hp	MSH:D006423|SNOMEDCT_US:34063005|UMLS:C0271202		http://purl.obolibrary.org/obo/HP_0030516		Homonymous hemianopsia
OBO:HP_0030517	Heteronymous hemianopia	biolink:OntologyClass	hp	SNOMEDCT_US:344104004|SNOMEDCT_US:345121001|UMLS:C0271207		http://purl.obolibrary.org/obo/HP_0030517		Heteronymous hemianopsia
OBO:HP_0030518	Congruous homonymous hemianopia	biolink:OntologyClass	hp	UMLS:C4072997		http://purl.obolibrary.org/obo/HP_0030518		Congruous hemianopsia
OBO:HP_0030519	Congruous heteronymous hemianopia	biolink:OntologyClass	hp	UMLS:C4072998		http://purl.obolibrary.org/obo/HP_0030519		
OBO:HP_0030520	Binasal hemianopia	biolink:OntologyClass	hp	MSH:D006423|SNOMEDCT_US:87278000|UMLS:C0271208		http://purl.obolibrary.org/obo/HP_0030520		
OBO:HP_0030521	Bitemporal hemianopia	biolink:OntologyClass	hp	MSH:D006423|SNOMEDCT_US:61917005|UMLS:C0221184		http://purl.obolibrary.org/obo/HP_0030521		
OBO:HP_0030522	Mild constriction of peripheral visual field	biolink:OntologyClass	hp	UMLS:C4072999	A diminution of the peripheral visual field whereby at least 50 degrees of central field are preserved in all meridians.	http://purl.obolibrary.org/obo/HP_0030522		Mild peripheral visual field loss
OBO:HP_0030523	obsolete Peripheral visual field constriction with 40-50 degrees central field preserved	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0030523		
OBO:HP_0030524	obsolete Peripheral visual field constriction with 30-39 degrees central field preserved	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0030524		
OBO:HP_0030525	Moderate constriction of peripheral visual field	biolink:OntologyClass	hp	UMLS:C4073002	Peripheral visual field constriction with 20-49 degrees binocular visual field preserved.	http://purl.obolibrary.org/obo/HP_0030525		Moderate peripheral visual field loss
OBO:HP_0030526	Severe constriction of peripheral visual field	biolink:OntologyClass	hp	UMLS:C4073003	Peripheral visual field constriction with 10-19 degrees central field preserved.	http://purl.obolibrary.org/obo/HP_0030526		Severe peripheral visual field loss
OBO:HP_0030527	Very severe constriction of peripheral visual field	biolink:OntologyClass	hp	UMLS:C4073004	Peripheral visual field constriction with <10 degrees central field preserved.	http://purl.obolibrary.org/obo/HP_0030527		Very severe peripheral visual field loss
OBO:HP_0030528	Paracentral scotoma	biolink:OntologyClass	hp	MSH:D012607|SNOMEDCT_US:64418005|UMLS:C0271197		http://purl.obolibrary.org/obo/HP_0030528		
OBO:HP_0030529	Ring scotoma	biolink:OntologyClass	hp	MSH:D012607|SNOMEDCT_US:129625005|UMLS:C0438434		http://purl.obolibrary.org/obo/HP_0030529		
OBO:HP_0030530	Arcuate scotoma	biolink:OntologyClass	hp	MSH:D012607|SNOMEDCT_US:15462009|UMLS:C0271198|UMLS:C4280302		http://purl.obolibrary.org/obo/HP_0030530		Arc-shaped blind spot
OBO:HP_0030531	Altitudinal visual field defect	biolink:OntologyClass	hp	UMLS:C4073005		http://purl.obolibrary.org/obo/HP_0030531		
OBO:HP_0030532	Visual acuity test abnormality	biolink:OntologyClass	hp	UMLS:C4073006		http://purl.obolibrary.org/obo/HP_0030532		
OBO:HP_0030533	Abnormal unaided visual acuity test	biolink:OntologyClass	hp	UMLS:C4073007		http://purl.obolibrary.org/obo/HP_0030533		
OBO:HP_0030534	Abnormal best corrected visual acuity test	biolink:OntologyClass	hp	UMLS:C4073008		http://purl.obolibrary.org/obo/HP_0030534		
OBO:HP_0030535	Abnormal pinhole visual acuity test	biolink:OntologyClass	hp	UMLS:C4073009		http://purl.obolibrary.org/obo/HP_0030535		
OBO:HP_0030536	Unaided visual acuity 0.1 LogMAR	biolink:OntologyClass	hp	UMLS:C4073010		http://purl.obolibrary.org/obo/HP_0030536		
OBO:HP_0030537	Unaided visual acuity 0.2 LogMAR	biolink:OntologyClass	hp	UMLS:C4073011		http://purl.obolibrary.org/obo/HP_0030537		
OBO:HP_0030538	Unaided visual acuity 0.3 LogMAR	biolink:OntologyClass	hp	UMLS:C4073012		http://purl.obolibrary.org/obo/HP_0030538		
OBO:HP_0030539	Unaided visual acuity 0.4 LogMAR	biolink:OntologyClass	hp	UMLS:C4073013		http://purl.obolibrary.org/obo/HP_0030539		
OBO:HP_0030540	Unaided visual acuity 0.5 LogMAR	biolink:OntologyClass	hp	UMLS:C4073014		http://purl.obolibrary.org/obo/HP_0030540		
OBO:HP_0030541	Unaided visual acuity 0.6 LogMAR	biolink:OntologyClass	hp	UMLS:C4073015		http://purl.obolibrary.org/obo/HP_0030541		
OBO:HP_0030542	Unaided visual acuity 0.7 LogMAR	biolink:OntologyClass	hp	UMLS:C4073016		http://purl.obolibrary.org/obo/HP_0030542		
OBO:HP_0030543	Unaided visual acuity 0.8 LogMAR	biolink:OntologyClass	hp	UMLS:C4073017		http://purl.obolibrary.org/obo/HP_0030543		
OBO:HP_0030544	Unaided visual acuity 0.9 LogMAR	biolink:OntologyClass	hp	UMLS:C4073018		http://purl.obolibrary.org/obo/HP_0030544		
OBO:HP_0030545	Unaided visual acuity 1.0 LogMAR	biolink:OntologyClass	hp	UMLS:C4073019		http://purl.obolibrary.org/obo/HP_0030545		
OBO:HP_0030546	Unaided visual acuity 1.1 LogMAR	biolink:OntologyClass	hp	UMLS:C4073020		http://purl.obolibrary.org/obo/HP_0030546		
OBO:HP_0030547	Unaided visual acuity 1.2 LogMAR	biolink:OntologyClass	hp	UMLS:C4073021		http://purl.obolibrary.org/obo/HP_0030547		
OBO:HP_0030548	Unaided visual acuity 1.3 LogMAR	biolink:OntologyClass	hp	UMLS:C4073022		http://purl.obolibrary.org/obo/HP_0030548		
OBO:HP_0030549	Unaided visual acuity 2.0 LogMAR	biolink:OntologyClass	hp	UMLS:C4073023		http://purl.obolibrary.org/obo/HP_0030549		
OBO:HP_0030550	Unaided visual acuity 3.0 LogMAR	biolink:OntologyClass	hp	UMLS:C4073024		http://purl.obolibrary.org/obo/HP_0030550		
OBO:HP_0030551	Visual acuity light perception with projection	biolink:OntologyClass	hp	UMLS:C4073025		http://purl.obolibrary.org/obo/HP_0030551		
OBO:HP_0030552	Visual acuity light perception without projection	biolink:OntologyClass	hp	UMLS:C4073026		http://purl.obolibrary.org/obo/HP_0030552		
OBO:HP_0030553	Visual acuity no light perception	biolink:OntologyClass	hp	SNOMEDCT_US:63063006|UMLS:C0442774		http://purl.obolibrary.org/obo/HP_0030553		
OBO:HP_0030554	Best corrected visual acuity 0.1 LogMAR	biolink:OntologyClass	hp	UMLS:C4073027		http://purl.obolibrary.org/obo/HP_0030554		
OBO:HP_0030555	Best corrected visual acuity 0.2 LogMAR	biolink:OntologyClass	hp	UMLS:C4073028		http://purl.obolibrary.org/obo/HP_0030555		
OBO:HP_0030556	Best corrected visual acuity 0.3 LogMAR	biolink:OntologyClass	hp	UMLS:C4073029		http://purl.obolibrary.org/obo/HP_0030556		
OBO:HP_0030557	Best corrected visual acuity 0.4 LogMAR	biolink:OntologyClass	hp	UMLS:C4073030		http://purl.obolibrary.org/obo/HP_0030557		
OBO:HP_0030558	Best corrected visual acuity 0.5 LogMAR	biolink:OntologyClass	hp	UMLS:C4073031		http://purl.obolibrary.org/obo/HP_0030558		
OBO:HP_0030559	Best corrected visual acuity 0.7 LogMAR	biolink:OntologyClass	hp	UMLS:C4073032		http://purl.obolibrary.org/obo/HP_0030559		
OBO:HP_0030560	Best corrected visual acuity 0.6 LogMAR	biolink:OntologyClass	hp	UMLS:C4073033		http://purl.obolibrary.org/obo/HP_0030560		
OBO:HP_0030561	Best corrected visual acuity 0.8 LogMAR	biolink:OntologyClass	hp	UMLS:C4073034		http://purl.obolibrary.org/obo/HP_0030561		
OBO:HP_0030562	Best corrected visual acuity 0.9 LogMAR	biolink:OntologyClass	hp	UMLS:C4073035		http://purl.obolibrary.org/obo/HP_0030562		
OBO:HP_0030563	Best corrected visual acuity 1.0 LogMAR	biolink:OntologyClass	hp	UMLS:C4073036		http://purl.obolibrary.org/obo/HP_0030563		
OBO:HP_0030564	Best corrected visual acuity 1.1 LogMAR	biolink:OntologyClass	hp	UMLS:C4073037		http://purl.obolibrary.org/obo/HP_0030564		
OBO:HP_0030565	Best corrected visual acuity 1.2 LogMAR	biolink:OntologyClass	hp	UMLS:C4073038		http://purl.obolibrary.org/obo/HP_0030565		
OBO:HP_0030566	Best corrected visual acuity 1.3 LogMAR	biolink:OntologyClass	hp	UMLS:C4073039		http://purl.obolibrary.org/obo/HP_0030566		
OBO:HP_0030567	Best corrected visual acuity 2.0 LogMAR	biolink:OntologyClass	hp	UMLS:C4073040		http://purl.obolibrary.org/obo/HP_0030567		
OBO:HP_0030568	Best corrected visual acuity 3.0 LogMAR	biolink:OntologyClass	hp	UMLS:C4073041		http://purl.obolibrary.org/obo/HP_0030568		
OBO:HP_0030569	Pinhole visual acuity 0.1 LogMAR	biolink:OntologyClass	hp	UMLS:C4073042		http://purl.obolibrary.org/obo/HP_0030569		
OBO:HP_0030570	Pinhole visual acuity 0.2 LogMAR	biolink:OntologyClass	hp	UMLS:C4073043		http://purl.obolibrary.org/obo/HP_0030570		
OBO:HP_0030571	Pinhole visual acuity 0.3 LogMAR	biolink:OntologyClass	hp	UMLS:C4073044		http://purl.obolibrary.org/obo/HP_0030571		
OBO:HP_0030572	Pinhole visual acuity 0.4 LogMAR	biolink:OntologyClass	hp	UMLS:C4073045		http://purl.obolibrary.org/obo/HP_0030572		
OBO:HP_0030573	Pinhole visual acuity 0.5 LogMAR	biolink:OntologyClass	hp	UMLS:C4073046		http://purl.obolibrary.org/obo/HP_0030573		
OBO:HP_0030574	Pinhole visual acuity 0.6 LogMAR	biolink:OntologyClass	hp	UMLS:C4073047		http://purl.obolibrary.org/obo/HP_0030574		
OBO:HP_0030575	Pinhole visual acuity 0.7 LogMAR	biolink:OntologyClass	hp	UMLS:C4073048		http://purl.obolibrary.org/obo/HP_0030575		
OBO:HP_0030576	Pinhole visual acuity 0.8 LogMAR	biolink:OntologyClass	hp	UMLS:C4073049		http://purl.obolibrary.org/obo/HP_0030576		
OBO:HP_0030577	Pinhole visual acuity 0.9 LogMAR	biolink:OntologyClass	hp	UMLS:C4073050		http://purl.obolibrary.org/obo/HP_0030577		
OBO:HP_0030578	Pinhole visual acuity 1.0 LogMAR	biolink:OntologyClass	hp	UMLS:C4073051		http://purl.obolibrary.org/obo/HP_0030578		
OBO:HP_0030579	Pinhole visual acuity 1.1 LogMAR	biolink:OntologyClass	hp	UMLS:C4073052		http://purl.obolibrary.org/obo/HP_0030579		
OBO:HP_0030580	Pinhole visual acuity 1.2 LogMAR	biolink:OntologyClass	hp	UMLS:C4073053		http://purl.obolibrary.org/obo/HP_0030580		
OBO:HP_0030581	Pinhole visual acuity 1.3 LogMAR	biolink:OntologyClass	hp	UMLS:C4073054		http://purl.obolibrary.org/obo/HP_0030581		
OBO:HP_0030582	Pinhole visual acuity 2.0 LogMAR	biolink:OntologyClass	hp	UMLS:C4073055		http://purl.obolibrary.org/obo/HP_0030582		
OBO:HP_0030583	Pinhole visual acuity 3.0 LogMAR	biolink:OntologyClass	hp	UMLS:C4073056		http://purl.obolibrary.org/obo/HP_0030583		
OBO:HP_0030584	Color vision test abnormality	biolink:OntologyClass	hp	UMLS:C4073057		http://purl.obolibrary.org/obo/HP_0030584		Colour vision test abnormality
OBO:HP_0030585	Red desaturation	biolink:OntologyClass	hp	UMLS:C4073058		http://purl.obolibrary.org/obo/HP_0030585		
OBO:HP_0030586	Abnormal Ishihara plate test	biolink:OntologyClass	hp	UMLS:C4073059		http://purl.obolibrary.org/obo/HP_0030586		
OBO:HP_0030587	Abnormal Hardy-Rand-Rittler plate test	biolink:OntologyClass	hp	UMLS:C4073060		http://purl.obolibrary.org/obo/HP_0030587		
OBO:HP_0030588	Abnormal visual field test	biolink:OntologyClass	hp	UMLS:C0854021	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.	http://purl.obolibrary.org/obo/HP_0030588		
OBO:HP_0030589	Abnormal confrontational visual field test	biolink:OntologyClass	hp	UMLS:C4073061		http://purl.obolibrary.org/obo/HP_0030589		
OBO:HP_0030590	Abnormal Amsler grid test	biolink:OntologyClass	hp	UMLS:C4073062		http://purl.obolibrary.org/obo/HP_0030590		
OBO:HP_0030591	Abnormal kinetic perimetry test	biolink:OntologyClass	hp	UMLS:C4073063		http://purl.obolibrary.org/obo/HP_0030591		
OBO:HP_0030592	Abnormal static perimetry test	biolink:OntologyClass	hp	UMLS:C4073064		http://purl.obolibrary.org/obo/HP_0030592		
OBO:HP_0030593	Abnormal manual kinetic perimetry test	biolink:OntologyClass	hp	UMLS:C4073065		http://purl.obolibrary.org/obo/HP_0030593		
OBO:HP_0030594	Abnormal automated kinetic perimetry test	biolink:OntologyClass	hp	UMLS:C4073066		http://purl.obolibrary.org/obo/HP_0030594		
OBO:HP_0030595	Abnormal static automated perimetry test	biolink:OntologyClass	hp	UMLS:C4073067		http://purl.obolibrary.org/obo/HP_0030595		
OBO:HP_0030596	Abnormal Humphrey SITA 30-2 perimetry test	biolink:OntologyClass	hp	UMLS:C4073068		http://purl.obolibrary.org/obo/HP_0030596		
OBO:HP_0030597	Abnormal Humphrey SITA 24-2 perimetry test	biolink:OntologyClass	hp	UMLS:C4073069		http://purl.obolibrary.org/obo/HP_0030597		
OBO:HP_0030598	Abnormal Humphrey SITA 10-2 perimetry test	biolink:OntologyClass	hp	UMLS:C4073070		http://purl.obolibrary.org/obo/HP_0030598		
OBO:HP_0030599	Abnormal Estermann grid perimetry test	biolink:OntologyClass	hp	UMLS:C4073071		http://purl.obolibrary.org/obo/HP_0030599		
OBO:HP_0030601	Abnormal posterior segment imaging	biolink:OntologyClass	hp	UMLS:C4073072		http://purl.obolibrary.org/obo/HP_0030601		
OBO:HP_0030602	Abnormal fundus autofluorescence imaging	biolink:OntologyClass	hp	UMLS:C4073073	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.	http://purl.obolibrary.org/obo/HP_0030602		
OBO:HP_0030603	Abnormal optical coherence tomography	biolink:OntologyClass	hp	UMLS:C3665728		http://purl.obolibrary.org/obo/HP_0030603		
OBO:HP_0030604	Abnormal fundus fluorescein angiography	biolink:OntologyClass	hp	UMLS:C4073074	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.	http://purl.obolibrary.org/obo/HP_0030604		
OBO:HP_0030605	Abnormal indocyanine green angiography	biolink:OntologyClass	hp	UMLS:C4073075		http://purl.obolibrary.org/obo/HP_0030605		
OBO:HP_0030606	Abnormal OCT-measured macular thickness	biolink:OntologyClass	hp	UMLS:C4073076		http://purl.obolibrary.org/obo/HP_0030606		
OBO:HP_0030607	Reduced OCT-measured macular thickness	biolink:OntologyClass	hp	UMLS:C4073077		http://purl.obolibrary.org/obo/HP_0030607		
OBO:HP_0030608	Increased OCT-measured macular thickness	biolink:OntologyClass	hp	UMLS:C4073078		http://purl.obolibrary.org/obo/HP_0030608		
OBO:HP_0030609	Photoreceptor layer loss on macular OCT	biolink:OntologyClass	hp	UMLS:C4073079	Loss of the outer nuclear layer (photoreceptor layer) as assessed by ocular coherence tomography.	http://purl.obolibrary.org/obo/HP_0030609		
OBO:HP_0030610	Photoreceptor outer segment loss on macular OCT	biolink:OntologyClass	hp	UMLS:C4073080		http://purl.obolibrary.org/obo/HP_0030610		
OBO:HP_0030611	Retinal pigment epithelial loss on macular OCT	biolink:OntologyClass	hp	UMLS:C4073081		http://purl.obolibrary.org/obo/HP_0030611		
OBO:HP_0030612	Abnormal retinal morphology on macular OCT	biolink:OntologyClass	hp	UMLS:C4073082		http://purl.obolibrary.org/obo/HP_0030612		
OBO:HP_0030613	Abnormal foveal morphology on macular OCT	biolink:OntologyClass	hp	UMLS:C4073083		http://purl.obolibrary.org/obo/HP_0030613		
OBO:HP_0030614	Foveal photoreceptor layer loss on macular OCT	biolink:OntologyClass	hp	UMLS:C4073084		http://purl.obolibrary.org/obo/HP_0030614		
OBO:HP_0030615	Foveal photoreceptor outer segment loss on macular OCT	biolink:OntologyClass	hp	UMLS:C4073085		http://purl.obolibrary.org/obo/HP_0030615		
OBO:HP_0030616	Foveal retinal pigment epithelial loss on macular OCT	biolink:OntologyClass	hp	UMLS:C4073086		http://purl.obolibrary.org/obo/HP_0030616		
OBO:HP_0030617	Abnormal OCT-measured foveal thickness	biolink:OntologyClass	hp	UMLS:C4073087		http://purl.obolibrary.org/obo/HP_0030617		
OBO:HP_0030618	Increased OCT-measured foveal thickness	biolink:OntologyClass	hp	UMLS:C4073088		http://purl.obolibrary.org/obo/HP_0030618		
OBO:HP_0030619	Reduced OCT-measured foveal thickness	biolink:OntologyClass	hp	UMLS:C4073089		http://purl.obolibrary.org/obo/HP_0030619		
OBO:HP_0030620	Inner retinal layer loss on macular OCT	biolink:OntologyClass	hp	UMLS:C4073090		http://purl.obolibrary.org/obo/HP_0030620		
OBO:HP_0030621	Foveal inner retinal layer loss on macular OCT	biolink:OntologyClass	hp	UMLS:C4073091		http://purl.obolibrary.org/obo/HP_0030621		
OBO:HP_0030622	Abnormal foveal pit on macular OCT	biolink:OntologyClass	hp	UMLS:C4073092		http://purl.obolibrary.org/obo/HP_0030622		
OBO:HP_0030623	Intraretinal hyporeflective spaces on macular OCT	biolink:OntologyClass	hp	UMLS:C4073093		http://purl.obolibrary.org/obo/HP_0030623		
OBO:HP_0030624	Subretinal hyporeflective spaces on macular OCT	biolink:OntologyClass	hp	UMLS:C4073094		http://purl.obolibrary.org/obo/HP_0030624		
OBO:HP_0030625	Hyporeflective spaces on macular OCT	biolink:OntologyClass	hp	UMLS:C4073095		http://purl.obolibrary.org/obo/HP_0030625		
OBO:HP_0030626	Foveal intraretinal hyporeflective spaces on macular OCT	biolink:OntologyClass	hp	UMLS:C4073096		http://purl.obolibrary.org/obo/HP_0030626		
OBO:HP_0030627	Foveal hyporeflective spaces on macular OCT	biolink:OntologyClass	hp	UMLS:C4073097		http://purl.obolibrary.org/obo/HP_0030627		
OBO:HP_0030628	Foveal subretinal hyporeflective spaces on macular OCT	biolink:OntologyClass	hp	UMLS:C4073098		http://purl.obolibrary.org/obo/HP_0030628		
OBO:HP_0030629	Perifoveal ring of hyperautofluorescence	biolink:OntologyClass	hp	UMLS:C4073099		http://purl.obolibrary.org/obo/HP_0030629		
OBO:HP_0030630	Irregular central macular autofluorescence	biolink:OntologyClass	hp	UMLS:C4073100		http://purl.obolibrary.org/obo/HP_0030630		
OBO:HP_0030631	Hyperautofluorescent macular lesion	biolink:OntologyClass	hp	UMLS:C4073101	Increased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging.	http://purl.obolibrary.org/obo/HP_0030631		
OBO:HP_0030632	Hypoautofluorescent macular lesion	biolink:OntologyClass	hp	UMLS:C4073102	Decreased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging.	http://purl.obolibrary.org/obo/HP_0030632		Hypo-autofluorescent macular lesion
OBO:HP_0030633	Perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence	biolink:OntologyClass	hp	UMLS:C4073103		http://purl.obolibrary.org/obo/HP_0030633		
OBO:HP_0030634	Perifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence	biolink:OntologyClass	hp	UMLS:C4073104		http://purl.obolibrary.org/obo/HP_0030634		
OBO:HP_0030635	Retinal dystrophy with early macular involvement	biolink:OntologyClass	hp	UMLS:C4049066		http://purl.obolibrary.org/obo/HP_0030635		
OBO:HP_0030636	Occult macular dystrophy	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0030636		
OBO:HP_0030637	Congenital stationary cone dysfunction	biolink:OntologyClass	hp	UMLS:C0543968	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.	http://purl.obolibrary.org/obo/HP_0030637		Cone dysfunction|Cone dysfunction syndrome
OBO:HP_0030638	Congenital stationary night blindness with normal fundus	biolink:OntologyClass	hp	UMLS:C4073105		http://purl.obolibrary.org/obo/HP_0030638		
OBO:HP_0030639	Congenital stationary night blindness with abnormal fundus	biolink:OntologyClass	hp	UMLS:C4073106		http://purl.obolibrary.org/obo/HP_0030639		
OBO:HP_0030640	Complete congenital stationary night blindness	biolink:OntologyClass	hp	UMLS:C4048798		http://purl.obolibrary.org/obo/HP_0030640		
OBO:HP_0030641	Incomplete congenital stationary night blindness	biolink:OntologyClass	hp	UMLS:C4073107		http://purl.obolibrary.org/obo/HP_0030641		
OBO:HP_0030642	Fundus albipunctatus	biolink:OntologyClass	hp	MSH:C562733|SNOMEDCT_US:68222009|UMLS:C0311338		http://purl.obolibrary.org/obo/HP_0030642		
OBO:HP_0030643	Vitelliform-like retinal lesions	biolink:OntologyClass	hp	UMLS:C4073108		http://purl.obolibrary.org/obo/HP_0030643		
OBO:HP_0030644	Blind-spot enlargment	biolink:OntologyClass	hp	UMLS:C4073109		http://purl.obolibrary.org/obo/HP_0030644		Blind spot enlargment
OBO:HP_0030645	Central	biolink:OntologyClass	hp	SNOMEDCT_US:26216008|UMLS:C0205099	Applies to an abnormality that is located close to the median plane or midline of the body or of the referenced structure.	http://purl.obolibrary.org/obo/HP_0030645		
OBO:HP_0030646	Peripheral	biolink:OntologyClass	hp	SNOMEDCT_US:14414005|UMLS:C0205100		http://purl.obolibrary.org/obo/HP_0030646		
OBO:HP_0030647	Paracentral	biolink:OntologyClass	hp	UMLS:C4073110		http://purl.obolibrary.org/obo/HP_0030647		
OBO:HP_0030648	Midperipheral	biolink:OntologyClass	hp	UMLS:C4073111		http://purl.obolibrary.org/obo/HP_0030648		Mid-peripheral
OBO:HP_0030649	Pericentral	biolink:OntologyClass	hp	UMLS:C4073112		http://purl.obolibrary.org/obo/HP_0030649		
OBO:HP_0030650	Focal	biolink:OntologyClass	hp	SNOMEDCT_US:87017008|UMLS:C0205234		http://purl.obolibrary.org/obo/HP_0030650		
OBO:HP_0030651	Multifocal	biolink:OntologyClass	hp	SNOMEDCT_US:524008|UMLS:C0205292		http://purl.obolibrary.org/obo/HP_0030651		
OBO:HP_0030652	Vitreous haze	biolink:OntologyClass	hp	UMLS:C4073113	Vitreous haze is the obscuration of fundus details by vitreous cells and protein exudation.	http://purl.obolibrary.org/obo/HP_0030652		
OBO:HP_0030654	Umbilical cord cyst	biolink:OntologyClass	hp	UMLS:C4073114	Any cystic lesion associated with the umbilical cord.	http://purl.obolibrary.org/obo/HP_0030654		
OBO:HP_0030655	Umbilical cord knot	biolink:OntologyClass	hp	SNOMEDCT_US:237309005|UMLS:C0344363	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.	http://purl.obolibrary.org/obo/HP_0030655		
OBO:HP_0030656	Umbilical vein varix	biolink:OntologyClass	hp	UMLS:C4073115	Focal dilation of the umbilical vein.	http://purl.obolibrary.org/obo/HP_0030656		
OBO:HP_0030657	Umbilical cord hematoma	biolink:OntologyClass	hp	SNOMEDCT_US:86256001|UMLS:C0269855	Bleeding from the vessels of the cord with extravasation of blood into the Wharton jelly surrounding the umbilical cord vessels.	http://purl.obolibrary.org/obo/HP_0030657		Umbilical cord haematoma
OBO:HP_0030658	Marginal umbilical cord insertion	biolink:OntologyClass	hp	SNOMEDCT_US:51519001|UMLS:C0266788	Insertion of the umbilical cord within 2 cm from the placental edge.	http://purl.obolibrary.org/obo/HP_0030658		Marginal cord insertion
OBO:HP_0030659	Velamentous cord insertion	biolink:OntologyClass	hp	SNOMEDCT_US:77278008|UMLS:C0266789	Insertion of the umbilical cord into the chorio-amniotic membranes of the placenta.	http://purl.obolibrary.org/obo/HP_0030659		
OBO:HP_0030660	Furcate cord insertion	biolink:OntologyClass	hp	UMLS:C4073116	Branching of the umbilical cord before its insertion into the placenta.	http://purl.obolibrary.org/obo/HP_0030660		
OBO:HP_0030661	Vitreous snowballs	biolink:OntologyClass	hp	SNOMEDCT_US:417393008|UMLS:C1563272	Yellow-white inflammatory aggregates in the vitreous that are found in the midvitreous and inferior periphery.	http://purl.obolibrary.org/obo/HP_0030661		
OBO:HP_0030662	Vitreous inflammatory cells	biolink:OntologyClass	hp	UMLS:C4073117	The presence of inflammatory cells such as lymphocytes and macrophages in the vitreous.	http://purl.obolibrary.org/obo/HP_0030662		
OBO:HP_0030663	Optically empty vitreous	biolink:OntologyClass	hp	UMLS:C4073118	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.	http://purl.obolibrary.org/obo/HP_0030663		
OBO:HP_0030664	Beevor's sign	biolink:OntologyClass	hp	SNOMEDCT_US:61282003|UMLS:C0231616	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.	http://purl.obolibrary.org/obo/HP_0030664		
OBO:HP_0030665	Rubral tremor	biolink:OntologyClass	hp	MSH:D001259|UMLS:C0750940	Rubral tremor is characterized by a slow coarse tremor at rest that is exacerbated by postural adjustments and by guided voluntary movements.	http://purl.obolibrary.org/obo/HP_0030665		Holmes' tremor
OBO:HP_0030666	Retinal neovascularization	biolink:OntologyClass	hp	MSH:D015861|SNOMEDCT_US:61267008|UMLS:C0035320	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.	http://purl.obolibrary.org/obo/HP_0030666		Retinal neovascularisation
OBO:HP_0030667	Peripheral retinal neovascularization	biolink:OntologyClass	hp	SNOMEDCT_US:247100001|UMLS:C0474355	A type of retinal neovascularization that affects the periphery of the retina.	http://purl.obolibrary.org/obo/HP_0030667		
OBO:HP_0030668	Periorbital dermoid cyst	biolink:OntologyClass	hp	UMLS:C4073119	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.	http://purl.obolibrary.org/obo/HP_0030668		
OBO:HP_0030669	Abnormal ocular adnexa morphology	biolink:OntologyClass	hp	UMLS:C4073120	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.	http://purl.obolibrary.org/obo/HP_0030669		
OBO:HP_0030670	Hamartoma of the orbital region	biolink:OntologyClass	hp	UMLS:C4073121	A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the orbital region.	http://purl.obolibrary.org/obo/HP_0030670		
OBO:HP_0030671	Abnormal common tendinous ring morphology	biolink:OntologyClass	hp	UMLS:C4073122	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.	http://purl.obolibrary.org/obo/HP_0030671		Abnormality of the common tendinous ring
OBO:HP_0030672	Asteroid hyalosis	biolink:OntologyClass	hp	SNOMEDCT_US:95800001|UMLS:C0521770	The presence of small, white vitreous opacities consisting of calcium phosphate and complex, layered lipid deposits.	http://purl.obolibrary.org/obo/HP_0030672		
OBO:HP_0030673	Erosive vitreoretinopathy	biolink:OntologyClass	hp	MSH:C536075|SNOMEDCT_US:232064001|UMLS:C1840452	A form of vitreoretinopathy characterized by thinning (erosion) of the retinal pigment epithelium that permits increased visualization of the choroidal vessels.	http://purl.obolibrary.org/obo/HP_0030673		
OBO:HP_0030674	Antenatal onset	biolink:OntologyClass	hp	UMLS:C2673646	Onset prior to birth.	http://purl.obolibrary.org/obo/HP_0030674		
OBO:HP_0030675	Contracture of proximal interphalangeal joints of 2nd-5th fingers	biolink:OntologyClass	hp	UMLS:C4073123	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.	http://purl.obolibrary.org/obo/HP_0030675		
OBO:HP_0030676	Satyr ear	biolink:OntologyClass	hp	UMLS:C4048833	Sharp pointed superior portion of the ear, with variable overfolding of the helix.	http://purl.obolibrary.org/obo/HP_0030676		Devil ear
OBO:HP_0030677	Mozart ear	biolink:OntologyClass	hp	UMLS:C4073124	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.	http://purl.obolibrary.org/obo/HP_0030677		
OBO:HP_0030679	Ash-leaf spot	biolink:OntologyClass	hp	UMLS:C4073125	A hypopigmented spot in the shape of a leaf from the mountain ash tree.	http://purl.obolibrary.org/obo/HP_0030679		
OBO:HP_0030680	Abnormality of cardiovascular system morphology	biolink:OntologyClass	hp	UMLS:C4049796	Any structural anomaly of the heart and great vessels.	http://purl.obolibrary.org/obo/HP_0030680		Cardiovascular malformations
OBO:HP_0030681	Abnormal morphology of myocardial trabeculae	biolink:OntologyClass	hp	UMLS:C4073289	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).	http://purl.obolibrary.org/obo/HP_0030681		
OBO:HP_0030682	Left ventricular noncompaction	biolink:OntologyClass	hp	UMLS:C1960469	Left ventricular noncompaction (LVNC) is defined by 3 markers: prominent left ventricular (LV) trabeculae, deep intertrabecular recesses, and the thin compacted layer.	http://purl.obolibrary.org/obo/HP_0030682		
OBO:HP_0030683	Vaginitis	biolink:OntologyClass	hp	MSH:D014627|SNOMEDCT_US:30800001|UMLS:C0042267	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.	http://purl.obolibrary.org/obo/HP_0030683		Vulvovaginitis
OBO:HP_0030684	Abnormal adiponectin level	biolink:OntologyClass	hp	UMLS:C4073126	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.	http://purl.obolibrary.org/obo/HP_0030684		
OBO:HP_0030685	Decreased adiponectin level	biolink:OntologyClass	hp	UMLS:C4073127	A reduced circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue.	http://purl.obolibrary.org/obo/HP_0030685		
OBO:HP_0030686	Increased adiponectin level	biolink:OntologyClass	hp	UMLS:C4073128	An elevated circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue.	http://purl.obolibrary.org/obo/HP_0030686		
OBO:HP_0030687	Abnormal glucagon level	biolink:OntologyClass	hp	UMLS:C4073129	A deviation from the normal concentration of glucagon in the blood circulation.	http://purl.obolibrary.org/obo/HP_0030687		
OBO:HP_0030688	Increased glucagon level	biolink:OntologyClass	hp	SNOMEDCT_US:131106002|UMLS:C1295677	An elevated concentration of glucagon in the blood circulation.	http://purl.obolibrary.org/obo/HP_0030688		
OBO:HP_0030689	Decreased glucagon level	biolink:OntologyClass	hp	SNOMEDCT_US:131107006|UMLS:C1295678	A reduced concentration of glucagon in the blood circulation.	http://purl.obolibrary.org/obo/HP_0030689		
OBO:HP_0030690	Gingival cleft	biolink:OntologyClass	hp	SNOMEDCT_US:109622003|UMLS:C0426489	A fissure in the gingiva (gums), i.e., the mucosal tissue that lies over the mandible and maxilla.	http://purl.obolibrary.org/obo/HP_0030690		
OBO:HP_0030691	Divergence nystagmus	biolink:OntologyClass	hp	UMLS:C4073130	A condition in which both eyes beat outward simultaneously.	http://purl.obolibrary.org/obo/HP_0030691		
OBO:HP_0030692	Brain neoplasm	biolink:OntologyClass	hp	MSH:D001932|NCIT:C2907|SNOMEDCT_US:126952004|SNOMEDCT_US:254935002|UMLS:C0006118	A benign or malignant neoplasm that arises from or metastasizes to the brain.	http://purl.obolibrary.org/obo/HP_0030692		Brain tumor|Brain tumour
OBO:HP_0030693	Supratentorial neoplasm	biolink:OntologyClass	hp	MSH:D010871|MSH:D015173|NCIT:C3328|SNOMEDCT_US:127026004|SNOMEDCT_US:359619007|SNOMEDCT_US:47598005|UMLS:C0031941|UMLS:C0038874	A benign or malignant neoplasm that occurs within the intracranial cavity above the tentorium cerebelli.	http://purl.obolibrary.org/obo/HP_0030693		Pineal parenchymal tumor|Pineal parenchymal tumour
OBO:HP_0030694	Pineal parenchymal cell neoplasm	biolink:OntologyClass	hp	MSH:D010871|SNOMEDCT_US:127026004|SNOMEDCT_US:359619007|SNOMEDCT_US:47598005|UMLS:C0031941		http://purl.obolibrary.org/obo/HP_0030694		
OBO:HP_0030706	Ranula	biolink:OntologyClass	hp	MSH:D011900|SNOMEDCT_US:14919007|UMLS:C2242813	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.	http://purl.obolibrary.org/obo/HP_0030706		Sublingual cyst|Sublingual ptyalocele
OBO:HP_0030707	Unilateral lung agenesis	biolink:OntologyClass	hp	MSH:C562992|UMLS:C4082952	Lack of development of one lung.	http://purl.obolibrary.org/obo/HP_0030707		Unilateral pulmonary agenesis
OBO:HP_0030708	Myeloschisis	biolink:OntologyClass	hp	SNOMEDCT_US:360530005|UMLS:C0266507	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.	http://purl.obolibrary.org/obo/HP_0030708		
OBO:HP_0030709	Myelocystocele	biolink:OntologyClass	hp	MSH:D008591|SNOMEDCT_US:203994003|SNOMEDCT_US:414667000|UMLS:C0025312	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.	http://purl.obolibrary.org/obo/HP_0030709		
OBO:HP_0030710	Lipomeningocele	biolink:OntologyClass	hp	SNOMEDCT_US:253120005|UMLS:C0431344	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.	http://purl.obolibrary.org/obo/HP_0030710		
OBO:HP_0030711	Hydrocolpos	biolink:OntologyClass	hp	MSH:D052202|UMLS:C1399870	Distention of the vagina caused by accumulation of fluid due to congenital vaginal obstruction.	http://purl.obolibrary.org/obo/HP_0030711		
OBO:HP_0030712	Uterine synechiae	biolink:OntologyClass	hp	MSH:D006175|SNOMEDCT_US:48236007|UMLS:C0156372	Adhesions or scar tissue that form inside the cavity of the uterus.	http://purl.obolibrary.org/obo/HP_0030712		Asherman syndrome
OBO:HP_0030713	Vein of Galen aneurysmal malformation	biolink:OntologyClass	hp	MSH:C536535|SNOMEDCT_US:253194008|UMLS:C0431420	Gross dilatation of the vein of Galen, being fed by large anomalous vessel or vessels arising from the carotid or basilar circulation.	http://purl.obolibrary.org/obo/HP_0030713		Median prosencephalic arteriovenous fistula|Vein of Galen aneurysm|Vein of Galen malformation
OBO:HP_0030714	Subchorionic thrombohematoma	biolink:OntologyClass	hp	UMLS:C1390676	A large maternal clot that separates the chorionic plate from the villous chorion.	http://purl.obolibrary.org/obo/HP_0030714		Breus' mole
OBO:HP_0030715	Bronchial atresia	biolink:OntologyClass	hp	SNOMEDCT_US:50513008|UMLS:C0265776	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.	http://purl.obolibrary.org/obo/HP_0030715		Congenital bronchial atresia
OBO:HP_0030716	Acrania	biolink:OntologyClass	hp	MSH:D009436|SNOMEDCT_US:203923004|UMLS:C0702169	Partial or complete absence of the flat bones of the cranial vault. The condition is frequently, though not always, associated with anencephaly.	http://purl.obolibrary.org/obo/HP_0030716		
OBO:HP_0030717	Meconium peritonitis	biolink:OntologyClass	hp	SNOMEDCT_US:57341009|UMLS:C0270250	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.	http://purl.obolibrary.org/obo/HP_0030717		
OBO:HP_0030718	Right atrial enlargement	biolink:OntologyClass	hp	Fyler:1771|Fyler:2859|SNOMEDCT_US:67751000119106|UMLS:C0748427	Increase in size of the right atrium.	http://purl.obolibrary.org/obo/HP_0030718		Dilated right atrium|Enlarged heart right atrium|Right atrial dilatation
OBO:HP_0030719	Unguarded tricuspid valve	biolink:OntologyClass	hp	SNOMEDCT_US:253381001|UMLS:C0344745	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.	http://purl.obolibrary.org/obo/HP_0030719		Rudimentary tricuspid valve leaflets|Unguarded tricuspid valve orifice
OBO:HP_0030720	Subchorionic septal cyst	biolink:OntologyClass	hp	UMLS:C4280801	Cyst on the surface of the placenta consisting of amnion and chorion.	http://purl.obolibrary.org/obo/HP_0030720		
OBO:HP_0030721	Tetraphocomelia	biolink:OntologyClass	hp	UMLS:C1849370	Phocomelia involving all four extremities.	http://purl.obolibrary.org/obo/HP_0030721		
OBO:HP_0030722	Ectopic liver	biolink:OntologyClass	hp	SNOMEDCT_US:253813000|UMLS:C0431603	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.	http://purl.obolibrary.org/obo/HP_0030722		
OBO:HP_0030723	Congenital megalourethra	biolink:OntologyClass	hp	UMLS:C4280800	Dilation and elongation of the penile urethra associated with absence or hypoplasia of the corpora spongiosa and cavernosa.	http://purl.obolibrary.org/obo/HP_0030723		
OBO:HP_0030724	Central nervous system cyst	biolink:OntologyClass	hp	MSH:D020863|SNOMEDCT_US:277333006|UMLS:C0349606	A fluid-filled sac (cyst) located within the central nervous system.	http://purl.obolibrary.org/obo/HP_0030724		CNS cyst|Cyst of the central nervous system
OBO:HP_0030725	Neurenteric cyst	biolink:OntologyClass	hp	MSH:D009436|SNOMEDCT_US:253127008|SNOMEDCT_US:41353005|UMLS:C0027806	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.	http://purl.obolibrary.org/obo/HP_0030725		
OBO:HP_0030726	Spinal neurenteric cyst	biolink:OntologyClass	hp	UMLS:C4280799	A neurenteric cyst located in the spine.	http://purl.obolibrary.org/obo/HP_0030726		
OBO:HP_0030727	Intracranial neurenteric cyst	biolink:OntologyClass	hp	UMLS:C4280680	A neurenteric cyst located within the skull.	http://purl.obolibrary.org/obo/HP_0030727		
OBO:HP_0030728	Meromelia	biolink:OntologyClass	hp	SNOMEDCT_US:60220000|UMLS:C0265549	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.	http://purl.obolibrary.org/obo/HP_0030728		
OBO:HP_0030729	Frontoethmoidal meningocele	biolink:OntologyClass	hp	UMLS:C4280798	A herniation of meninges through a congenital bone defect in the skull at the junction of the frontal and ethmoidal bones.	http://purl.obolibrary.org/obo/HP_0030729		Frontoethmoid meningocele
OBO:HP_0030730	Parietal meningocele	biolink:OntologyClass	hp	UMLS:C4280797	A herniation of meninges through a congenital bone defect in the skull in the parietal region.	http://purl.obolibrary.org/obo/HP_0030730		
OBO:HP_0030731	Carcinoma	biolink:OntologyClass	hp	MSH:D002277|NCIT:C2916|SNOMEDCT_US:68453008|UMLS:C0007097	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).	http://purl.obolibrary.org/obo/HP_0030731		
OBO:HP_0030732	Dysplastic tricuspid valve	biolink:OntologyClass	hp	UMLS:C4255215	A congenital malformation of the tricuspid valve characterized by leaflet deformation.	http://purl.obolibrary.org/obo/HP_0030732		Tricuspid valve dysplasia
OBO:HP_0030733	Vesicoallantoic abdominal wall defect	biolink:OntologyClass	hp	UMLS:C4280796	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.	http://purl.obolibrary.org/obo/HP_0030733		
OBO:HP_0030735	Ureterovesical junction obstruction	biolink:OntologyClass	hp	UMLS:C2609249	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.	http://purl.obolibrary.org/obo/HP_0030735		
OBO:HP_0030736	Sacrococcygeal teratoma	biolink:OntologyClass	hp	SNOMEDCT_US:281561000|UMLS:C0559459	A teratoma arising in the sacro-coccygeal region.	http://purl.obolibrary.org/obo/HP_0030736		
OBO:HP_0030737	Altman type I sacrococcygeal teratoma	biolink:OntologyClass	hp	UMLS:C4280795	A type of sacrococcygeal teratoma that is predominantly external and projects from the sacrococcygeal region and presents with distortion of the buttocks.	http://purl.obolibrary.org/obo/HP_0030737		
OBO:HP_0030738	Altman type II sacrococcygeal teratoma	biolink:OntologyClass	hp	UMLS:C4280794	A type of sacrococcygeal teratoma that is predominantly external but has a large intrapelvic component.	http://purl.obolibrary.org/obo/HP_0030738		
OBO:HP_0030739	Altman type III sacrococcygeal teratoma	biolink:OntologyClass	hp	UMLS:C4280793	A type of sacrococcygeal teratoma that is predominantly intrapelvic with a small external, buttock mass.	http://purl.obolibrary.org/obo/HP_0030739		
OBO:HP_0030740	Anomalous muscle bundle of the right ventricle	biolink:OntologyClass	hp	UMLS:C4280792	An accessory (not normally present) muscle bundle in the right ventricle which obstructs the right ventricular outflow tract.	http://purl.obolibrary.org/obo/HP_0030740		Right ventricular anomalous muscle bundle
OBO:HP_0030741	Mediastinal teratoma	biolink:OntologyClass	hp	NCIT:C6438|UMLS:C1334682	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).	http://purl.obolibrary.org/obo/HP_0030741		Teratoma of the mediastinum
OBO:HP_0030742	Glial remnants posterior to lens	biolink:OntologyClass	hp	SNOMEDCT_US:370483001|UMLS:C1299892	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.	http://purl.obolibrary.org/obo/HP_0030742		Mittendorf dot
OBO:HP_0030743	Glial remnants anterior to the optic disc	biolink:OntologyClass	hp	UMLS:C4280791	Persistance of a posterior remnant of the hyaloid artery located at the optic disc.	http://purl.obolibrary.org/obo/HP_0030743		Bergmeister papilla
OBO:HP_0030744	Hyaloid vascular remnant and retrolental mass	biolink:OntologyClass	hp	UMLS:C4280790	A type of persistance of the hyaloid vascular system associated with a retrolental mass that may lead to fetal cataract.	http://purl.obolibrary.org/obo/HP_0030744		
OBO:HP_0030745	Dilatation of the ductus arteriosus	biolink:OntologyClass	hp	SNOMEDCT_US:233990006|UMLS:C0398357	A saccular or fusiform dilation and elongation of the ductus arteriosus.	http://purl.obolibrary.org/obo/HP_0030745		Congenital ductus arteriosus aneurysm|Ductus arteriosus aneurysm
OBO:HP_0030746	Intraventricular hemorrhage	biolink:OntologyClass	hp	SNOMEDCT_US:23276006|UMLS:C0240059	Bleeding into the ventricles of the brain.	http://purl.obolibrary.org/obo/HP_0030746		Intraventricular haemorrhage
OBO:HP_0030747	Preterm intraventricular hemorrhage	biolink:OntologyClass	hp	UMLS:C4280789	Intraventricular hemorrhage that occurs in a premature infant.	http://purl.obolibrary.org/obo/HP_0030747		Preterm intraventricular haemorrhage
OBO:HP_0030748	Grade I preterm intraventricular hemorrhage	biolink:OntologyClass	hp	SNOMEDCT_US:276650005|UMLS:C0475737	Intraventricular hemorrhage that occurs in a preterm infant and that is restricted to subependymal region/germline matrix which is seen in the caudothalamic groove.	http://purl.obolibrary.org/obo/HP_0030748		Grade I preterm intraventricular haemorrhage|Germinal matrix hemorrhage
OBO:HP_0030749	Grade II preterm intraventricular hemorrhage	biolink:OntologyClass	hp	UMLS:C4280788	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.	http://purl.obolibrary.org/obo/HP_0030749		Grade II preterm intraventricular haemorrhage
OBO:HP_0030750	Grade III preterm intraventricular hemorrhage	biolink:OntologyClass	hp	UMLS:C4280787	Intraventricular hemorrhage that occurs in a preterm infant and that has extension into dilated ventricles.	http://purl.obolibrary.org/obo/HP_0030750		Grade III preterm intraventricular haemorrhage
OBO:HP_0030751	Grade IV preterm intraventricular hemorrhage	biolink:OntologyClass	hp	UMLS:C4280786	Intraventricular hemorrhage that occurs in a preterm infant and that shows parenchymal extension.	http://purl.obolibrary.org/obo/HP_0030751		Grade IV preterm intraventricular haemorrhage
OBO:HP_0030752	Dacryocystocele	biolink:OntologyClass	hp	SNOMEDCT_US:42758002|UMLS:C0155241	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.	http://purl.obolibrary.org/obo/HP_0030752		Timo cyst
OBO:HP_0030753	Intrauterine fetal demise of one twin after midgestation	biolink:OntologyClass	hp	UMLS:C4280785	Loss of one twin occurring after midgestation (17 weeks gestation).	http://purl.obolibrary.org/obo/HP_0030753		Intrauterine foetal demise of one twin after midgestation|Single-twin demise
OBO:HP_0030754	Allantoic cyst	biolink:OntologyClass	hp	MSH:D014496|SNOMEDCT_US:17234001|UMLS:C0041915	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.	http://purl.obolibrary.org/obo/HP_0030754		
OBO:HP_0030755	Craniofacial teratoma	biolink:OntologyClass	hp	NCIT:C3403|UMLS:C4280784	A teratoma located in the craniofacial region.	http://purl.obolibrary.org/obo/HP_0030755		
OBO:HP_0030756	Erythrodontia	biolink:OntologyClass	hp	UMLS:C4280783	Reddish, brown opalescent discoloration of teeth in normal light.	http://purl.obolibrary.org/obo/HP_0030756		Red teeth
OBO:HP_0030757	Tooth abscess	biolink:OntologyClass	hp	SNOMEDCT_US:299709002|UMLS:C0518988	A pocket of pus located within a region of a tooth.	http://purl.obolibrary.org/obo/HP_0030757		Dental abscess|Dentoalveolar abscess
OBO:HP_0030758	Periapical tooth abscess	biolink:OntologyClass	hp	UMLS:C4280782	A tooth abscess that occurs at the tip of the root (apex) of a tooth.	http://purl.obolibrary.org/obo/HP_0030758		
OBO:HP_0030759	Adipocyte hypertrophy	biolink:OntologyClass	hp	UMLS:C4280781	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.	http://purl.obolibrary.org/obo/HP_0030759		Fat cell hypertrophy
OBO:HP_0030760	Renal fibrosis	biolink:OntologyClass	hp	SNOMEDCT_US:197660000|UMLS:C0151650	Renal fibrosis is the consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease.	http://purl.obolibrary.org/obo/HP_0030760		Kidney fibrosis
OBO:HP_0030761	obsolete Renal glomerular fibrosis	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0030761		
OBO:HP_0030762	Mesangiolysis	biolink:OntologyClass	hp	UMLS:C4054531	Partial or complete dissolution of the mesangial matrix, identified by reduced staining on a periodic acid-Schiff (PAS) or silver stain.	http://purl.obolibrary.org/obo/HP_0030762		
OBO:HP_0030763	Amniotic Sheet	biolink:OntologyClass	hp	UMLS:C4280779	A sheet like projection that can result from uterine synechiae that has been encompassed by the expanding chorion and amnion.	http://purl.obolibrary.org/obo/HP_0030763		Amniotic shelf
OBO:HP_0030764	Ochronosis	biolink:OntologyClass	hp	MSH:D009794|SNOMEDCT_US:410042009|UMLS:C0028817	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.	http://purl.obolibrary.org/obo/HP_0030764		
OBO:HP_0030765	Sleep terror	biolink:OntologyClass	hp	MSH:D020184|SNOMEDCT_US:89675003|UMLS:C0037320	Episodes of intense fear, screaming and flailing although affected individuals are still asleep.	http://purl.obolibrary.org/obo/HP_0030765		Night terror|Pavor nocturnus|Sleep terrors
OBO:HP_0030766	Ear pain	biolink:OntologyClass	hp	MSH:D004433|SNOMEDCT_US:16001004|SNOMEDCT_US:162356005|UMLS:C0013456	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).	http://purl.obolibrary.org/obo/HP_0030766		Ear pain|Pain in the ear|Otalgia
OBO:HP_0030767	Epignathus	biolink:OntologyClass	hp	SNOMEDCT_US:31248004|UMLS:C0266725	Epignathus is a teratoma originating from the upper jaw, usually connected with the sphenoid bone or hard palate.	http://purl.obolibrary.org/obo/HP_0030767		
OBO:HP_0030769	Exencephaly	biolink:OntologyClass	hp	MSH:D009436|SNOMEDCT_US:84461004|UMLS:C0266453	A malformation of the neural tube with a large amount of protruding brain tissue and absence of calvarium.	http://purl.obolibrary.org/obo/HP_0030769		
OBO:HP_0030770	Craniorachischisis	biolink:OntologyClass	hp	MSH:D009436|SNOMEDCT_US:32219008|UMLS:C0152426	A neural tube defect in which both the brain and spinal cord remain open to varying degrees.	http://purl.obolibrary.org/obo/HP_0030770		
OBO:HP_0030771	Mallet finger	biolink:OntologyClass	hp	SNOMEDCT_US:64298006|UMLS:C0158473	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.	http://purl.obolibrary.org/obo/HP_0030771		
OBO:HP_0030772	Proximal femoral focal deficiency	biolink:OntologyClass	hp	SNOMEDCT_US:205211001|UMLS:C0431996	Proximal femoral focal deficiency is a deformity manifested by hypoplasia of a variable portion of the femur with shortening of the entire limb.	http://purl.obolibrary.org/obo/HP_0030772		
OBO:HP_0030773	Internuclear ophthalmoplegia	biolink:OntologyClass	hp	MSH:D015835|SNOMEDCT_US:49823009|UMLS:C0152134	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.	http://purl.obolibrary.org/obo/HP_0030773		
OBO:HP_0030774	Mitochondrial swelling	biolink:OntologyClass	hp	MSH:D008933|SNOMEDCT_US:125429001|UMLS:C0026244	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.	http://purl.obolibrary.org/obo/HP_0030774		
OBO:HP_0030775	Modic type vertebral endplate changes	biolink:OntologyClass	hp	UMLS:C4280778	An abnormal magnetic resonance tomography signal from a vertebral endplate according to a widely used classification published by Dr. Michael Modic.	http://purl.obolibrary.org/obo/HP_0030775		
OBO:HP_0030776	Modic type I vertebral endplate changes	biolink:OntologyClass	hp	UMLS:C4280777	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.	http://purl.obolibrary.org/obo/HP_0030776		Modic type 1 vertebral endplate changes
OBO:HP_0030777	Modic type II vertebral endplate changes	biolink:OntologyClass	hp	UMLS:C4280776	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.	http://purl.obolibrary.org/obo/HP_0030777		Modic type 2 vertebral endplate changes
OBO:HP_0030778	Modic type III vertebral endplate changes	biolink:OntologyClass	hp	UMLS:C4280775	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.	http://purl.obolibrary.org/obo/HP_0030778		Modic type 3 vertebral endplate changes
OBO:HP_0030779	Ethmocephaly	biolink:OntologyClass	hp	SNOMEDCT_US:55709000|UMLS:C0266680	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.	http://purl.obolibrary.org/obo/HP_0030779		
OBO:HP_0030780	Abnormality of the protein C anticoagulant pathway	biolink:OntologyClass	hp	UMLS:C4280774	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.	http://purl.obolibrary.org/obo/HP_0030780		
OBO:HP_0030781	Increased circulating free fatty acid level	biolink:OntologyClass	hp	UMLS:C4280773	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.	http://purl.obolibrary.org/obo/HP_0030781		
OBO:HP_0030782	Abnormal serum interleukin level	biolink:OntologyClass	hp	UMLS:C4280772	An abnormal amount of any of the interleukins, a class of cytokines, in the circulation.	http://purl.obolibrary.org/obo/HP_0030782		Abnormal serum IL level
OBO:HP_0030783	Increased circulating interleukin 6	biolink:OntologyClass	hp	UMLS:C4280771	An increased concentration of interleukin-6 in the circulation.	http://purl.obolibrary.org/obo/HP_0030783		Increased serum IL-6|Increased serum interleukin-6
OBO:HP_0030784	Anomia	biolink:OntologyClass	hp	MSH:D000849|SNOMEDCT_US:10325006|UMLS:C0003113	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.	http://purl.obolibrary.org/obo/HP_0030784		Amnesic aphasia|Amnestic aphasia|Anomic aphasia|Nominal aphasia
OBO:HP_0030785	Mediastinal cystic lymphangioma	biolink:OntologyClass	hp	UMLS:C4280770	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.	http://purl.obolibrary.org/obo/HP_0030785		Intrathoracic cystic hygroma|Thoracic cystic lymphangioma
OBO:HP_0030786	Photopsia	biolink:OntologyClass	hp	SNOMEDCT_US:56170001|UMLS:C0085635	Perceived flashes of light.	http://purl.obolibrary.org/obo/HP_0030786		
OBO:HP_0030787	Cerumen abnormality	biolink:OntologyClass	hp	UMLS:C4280769	Any anomaly of the cerumen (ear wax), the yellowish waxy substance secreted in the ear canal.	http://purl.obolibrary.org/obo/HP_0030787		
OBO:HP_0030788	Impacted cerumen	biolink:OntologyClass	hp	SNOMEDCT_US:18070006|UMLS:C0021092	Blockage of the external auditory canal by a buildup of earwax.	http://purl.obolibrary.org/obo/HP_0030788		
OBO:HP_0030789	Excessive cerumen	biolink:OntologyClass	hp	UMLS:C1382811	An increased quantity of earwax.	http://purl.obolibrary.org/obo/HP_0030789		
OBO:HP_0030790	Abnormal cerumen color	biolink:OntologyClass	hp	UMLS:C4280768	An anomolous earwax color. Earwax (cerumen) is usually light to dark brown or orange in color.	http://purl.obolibrary.org/obo/HP_0030790		Abnormal cerumen colour|Abnormal cerumen pigmentation
OBO:HP_0030791	Abnormal jaw morphology	biolink:OntologyClass	hp	UMLS:C4280767	A structural anomaly of the jaw, the bony structure of the mouth that consists of the mandible and the maxilla.	http://purl.obolibrary.org/obo/HP_0030791		
OBO:HP_0030792	Jaw neoplasm	biolink:OntologyClass	hp	MSH:D007573|SNOMEDCT_US:126634001|UMLS:C0022364	A tumor originating in the jaw (mandible or maxilla).	http://purl.obolibrary.org/obo/HP_0030792		
OBO:HP_0030793	Jaw swelling	biolink:OntologyClass	hp	UMLS:C4280766	Abnormal enlargement in the upper jaw (maxilla) or in the lower jaw (mandible).	http://purl.obolibrary.org/obo/HP_0030793		
OBO:HP_0030794	Abnormal C-peptide level	biolink:OntologyClass	hp	UMLS:C4280765	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.	http://purl.obolibrary.org/obo/HP_0030794		Abnormal C peptide level
OBO:HP_0030795	Reduced C-peptide level	biolink:OntologyClass	hp	UMLS:C4280764	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.	http://purl.obolibrary.org/obo/HP_0030795		Reduced C peptide level
OBO:HP_0030796	Increased C-peptide level	biolink:OntologyClass	hp	UMLS:C4280763	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.	http://purl.obolibrary.org/obo/HP_0030796		Increased C peptide level
OBO:HP_0030797	Reduced volume of central subdivision of bed nucleus of stria terminalis	biolink:OntologyClass	hp	UMLS:C4280762	A diminished volume of the central part of the bed nucleus of the stria terminalis.	http://purl.obolibrary.org/obo/HP_0030797		
OBO:HP_0030798	Abnormality of the bed nucleus of stria terminalis	biolink:OntologyClass	hp	UMLS:C4280761	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.	http://purl.obolibrary.org/obo/HP_0030798		
OBO:HP_0030799	Scaphocephaly	biolink:OntologyClass	hp	MSH:D003398|SNOMEDCT_US:4191007|UMLS:C0265534	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.	http://purl.obolibrary.org/obo/HP_0030799		
OBO:HP_0030800	Abnormal visual accommodation	biolink:OntologyClass	hp	UMLS:C4280760	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.	http://purl.obolibrary.org/obo/HP_0030800		
OBO:HP_0030801	Reduced visual accommodation	biolink:OntologyClass	hp	UMLS:C4280759	A decreased ability of the eye to adjust and thereby enable sharp vision of objects at different distances.	http://purl.obolibrary.org/obo/HP_0030801		
OBO:HP_0030802	Lower eyelid retraction	biolink:OntologyClass	hp	SNOMEDCT_US:700264006|UMLS:C1861656	Inferior malposition of the lower eyelid margin without eyelid eversion.	http://purl.obolibrary.org/obo/HP_0030802		
OBO:HP_0030803	Platonychia	biolink:OntologyClass	hp	UMLS:C1853986	Abnormal flat nail.	http://purl.obolibrary.org/obo/HP_0030803		
OBO:HP_0030804	Trachyonychia	biolink:OntologyClass	hp	SNOMEDCT_US:69192004|UMLS:C0546956	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.	http://purl.obolibrary.org/obo/HP_0030804		
OBO:HP_0030805	Absent lunula	biolink:OntologyClass	hp	UMLS:C4280758	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.	http://purl.obolibrary.org/obo/HP_0030805		Absent lunulae|Lunulae absent|Lunula absent
OBO:HP_0030806	Fast-growing nails	biolink:OntologyClass	hp	UMLS:C4280757	Nails whose growth is quicker than normal.	http://purl.obolibrary.org/obo/HP_0030806		
OBO:HP_0030807	Abnormal nail growth	biolink:OntologyClass	hp	UMLS:C1610609	Nail whose growth pattern or speed deviates from normal.	http://purl.obolibrary.org/obo/HP_0030807		
OBO:HP_0030808	Ragged cuticle	biolink:OntologyClass	hp	UMLS:C4280756	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.	http://purl.obolibrary.org/obo/HP_0030808		
OBO:HP_0030809	Abnormal tongue morphology	biolink:OntologyClass	hp	UMLS:C4280755	Any structural anomaly of the tongue.	http://purl.obolibrary.org/obo/HP_0030809		
OBO:HP_0030810	Abnormal tongue physiology	biolink:OntologyClass	hp	UMLS:C4280754	Any functional anomaly of the tongue.	http://purl.obolibrary.org/obo/HP_0030810		
OBO:HP_0030811	Tongue pain	biolink:OntologyClass	hp	MSH:D005926|SNOMEDCT_US:30731004|UMLS:C0017672	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the tongue.	http://purl.obolibrary.org/obo/HP_0030811		Painful tongue
OBO:HP_0030812	Enlarged tonsils	biolink:OntologyClass	hp	SNOMEDCT_US:46689006|UMLS:C0272386	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.	http://purl.obolibrary.org/obo/HP_0030812		Enlargment of tonsils|Tonsillar hypertrophy|tonsils large/hypertrophy
OBO:HP_0030813	Absent tonsils	biolink:OntologyClass	hp	SNOMEDCT_US:249393008|SNOMEDCT_US:300277007|UMLS:C0576999	Lack of observable tonsillar tissue.	http://purl.obolibrary.org/obo/HP_0030813		Hypoplastic tonsils|Tonsillar hypoplasia
OBO:HP_0030814	Orange discolored tonsils	biolink:OntologyClass	hp	UMLS:C4280753	A phenomenon of orange colored oral tonsils. This feature is characteristic of Tangier disease and illustrated will by Figure 1 of PMID:19470903.	http://purl.obolibrary.org/obo/HP_0030814		Orange discoloured tonsils|Orange colored tonsils|Orange coloured tonsils|Orange tonsils|Tonsils with orange deposits
OBO:HP_0030815	Lipoma of the tongue	biolink:OntologyClass	hp	UMLS:C0238467	A lipoma localized to the tongue. May present as a nontender, soft, spherical mass of the tongue.	http://purl.obolibrary.org/obo/HP_0030815		Tongue lipoma
OBO:HP_0030816	Gingival recession	biolink:OntologyClass	hp	MSH:D005889|SNOMEDCT_US:4356008|UMLS:C0017572	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.	http://purl.obolibrary.org/obo/HP_0030816		Gum recession|Receding gums
OBO:HP_0030817	Beaked nails	biolink:OntologyClass	hp	UMLS:C4280752	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.	http://purl.obolibrary.org/obo/HP_0030817		
OBO:HP_0030818	Central nail canal	biolink:OntologyClass	hp	SNOMEDCT_US:238718006|SNOMEDCT_US:86393005|UMLS:C0263526	The presense of a depressed line ("canal") in the center of the nail.	http://purl.obolibrary.org/obo/HP_0030818		Median nail dystrophy
OBO:HP_0030819	Ski jump nail	biolink:OntologyClass	hp	UMLS:C4280751	Nails that slope upward at the free edge.	http://purl.obolibrary.org/obo/HP_0030819		Upslanting nail|Upward angulation of nail
OBO:HP_0030820	Hooded eyelid	biolink:OntologyClass	hp	UMLS:C3277348	Eyelid partly covered by skin when eyes are open.	http://purl.obolibrary.org/obo/HP_0030820		
OBO:HP_0030821	Hooded lower eyelid	biolink:OntologyClass	hp	UMLS:C4280750	Lower eyelid partly covered by skin when eyes are open.	http://purl.obolibrary.org/obo/HP_0030821		
OBO:HP_0030822	Hooded upper eyelid	biolink:OntologyClass	hp	UMLS:C4280749	Upper eyelid partly covered by skin when eyes are open.	http://purl.obolibrary.org/obo/HP_0030822		
OBO:HP_0030823	Scleral thickening	biolink:OntologyClass	hp	UMLS:C2674403	Increased dimension of the sclera in the anterior-posterior axis.	http://purl.obolibrary.org/obo/HP_0030823		Thick sclera
OBO:HP_0030824	Mizuo phenomenon	biolink:OntologyClass	hp	UMLS:C4280748	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].	http://purl.obolibrary.org/obo/HP_0030824		Mizuo-Nakamura phenomenon
OBO:HP_0030825	Absent foveal reflex	biolink:OntologyClass	hp	SNOMEDCT_US:247144003|UMLS:C0423420	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.	http://purl.obolibrary.org/obo/HP_0030825		Foveal reflex absent|Loss of foveal reflex
OBO:HP_0030826	Eyelid fasciculation	biolink:OntologyClass	hp	UMLS:C4280682	Tiny, repetitive muscle contractions in the eyelids, causing the appearance of twitching.	http://purl.obolibrary.org/obo/HP_0030826		Muscle twitches in eye lid|Muscle twitches in eyelid|Twitching around eyes|Eyelid fluttering|Fasciculation of the eyelid
OBO:HP_0030828	Wheezing	biolink:OntologyClass	hp	MSH:D012135|SNOMEDCT_US:56018004|UMLS:C0043144	A high-pitched whistling sound associated with labored breathing.	http://purl.obolibrary.org/obo/HP_0030828		Wheezing
OBO:HP_0030829	Abnormal breath sound	biolink:OntologyClass	hp	SNOMEDCT_US:301273002|UMLS:C0231856	An anomalous (adventitious) sound produced by the breathing process.	http://purl.obolibrary.org/obo/HP_0030829		
OBO:HP_0030830	Crackles	biolink:OntologyClass	hp	MSH:D012135|SNOMEDCT_US:48409008|UMLS:C0034642	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.	http://purl.obolibrary.org/obo/HP_0030830		Crepitations|Rales
OBO:HP_0030831	Rhonchi	biolink:OntologyClass	hp	MSH:D012135|SNOMEDCT_US:24612001|UMLS:C0035508	Abnormal breath sounds characterized by low-pitched, snoring or rattle-like sounds.	http://purl.obolibrary.org/obo/HP_0030831		
OBO:HP_0030832	Vitreous strands	biolink:OntologyClass	hp	SNOMEDCT_US:28167005|UMLS:C0271408	Fiber- or rope-like opacities located within the vitreous humor.	http://purl.obolibrary.org/obo/HP_0030832		
OBO:HP_0030833	Neck pain	biolink:OntologyClass	hp	MSH:D019547|SNOMEDCT_US:81680005|UMLS:C0007859	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the neck.	http://purl.obolibrary.org/obo/HP_0030833		Neck pain
OBO:HP_0030834	Shoulder pain	biolink:OntologyClass	hp	MSH:D020069|SNOMEDCT_US:45326000|UMLS:C0037011	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the shoulder.	http://purl.obolibrary.org/obo/HP_0030834		Shoulder pain
OBO:HP_0030835	Elbow pain	biolink:OntologyClass	hp	SNOMEDCT_US:74323005|UMLS:C0239266	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the elbow.	http://purl.obolibrary.org/obo/HP_0030835		Elbow pain
OBO:HP_0030836	Wrist pain	biolink:OntologyClass	hp	SNOMEDCT_US:202482009|SNOMEDCT_US:56608008|UMLS:C0221785	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the wrist.	http://purl.obolibrary.org/obo/HP_0030836		Wrist pain
OBO:HP_0030837	Finger pain	biolink:OntologyClass	hp	SNOMEDCT_US:18876004|UMLS:C0239589	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the finger.	http://purl.obolibrary.org/obo/HP_0030837		Finger pain
OBO:HP_0030838	Hip pain	biolink:OntologyClass	hp	SNOMEDCT_US:49218002|UMLS:C0019559	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the hip.	http://purl.obolibrary.org/obo/HP_0030838		Hip pain
OBO:HP_0030839	Knee pain	biolink:OntologyClass	hp	SNOMEDCT_US:30989003|UMLS:C0231749	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee.	http://purl.obolibrary.org/obo/HP_0030839		Pain under knee cap|Knee pain
OBO:HP_0030840	Ankle pain	biolink:OntologyClass	hp	SNOMEDCT_US:202490009|SNOMEDCT_US:247373008|UMLS:C0238656	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the ankle.	http://purl.obolibrary.org/obo/HP_0030840		Ankle pain
OBO:HP_0030841	Toe pain	biolink:OntologyClass	hp	SNOMEDCT_US:285365001|UMLS:C0241416	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the toe.	http://purl.obolibrary.org/obo/HP_0030841		Toe pain
OBO:HP_0030842	Choking episodes	biolink:OntologyClass	hp	UMLS:C4280747	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.	http://purl.obolibrary.org/obo/HP_0030842		
OBO:HP_0030843	Cardiac amyloidosis	biolink:OntologyClass	hp	SNOMEDCT_US:16573007|UMLS:C0268407	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.	http://purl.obolibrary.org/obo/HP_0030843		Amyloid cardiomyopathy
OBO:HP_0030844	Undetectable pattern electroretinogram	biolink:OntologyClass	hp	UMLS:C4280746	Absent response to a pattern electroretinogram (PERG).	http://purl.obolibrary.org/obo/HP_0030844		
OBO:HP_0030845	Heliotrope rash of eyelid	biolink:OntologyClass	hp	UMLS:C4280745	Heliotrope rash is a violaceous discoloration of the eyelids associated with periorbital edema.	http://purl.obolibrary.org/obo/HP_0030845		
OBO:HP_0030846	Abnormality of venous physiology	biolink:OntologyClass	hp	UMLS:C4280744	An anomaly of venous function.	http://purl.obolibrary.org/obo/HP_0030846		
OBO:HP_0030847	Abnormal jugular venous pressure	biolink:OntologyClass	hp	SNOMEDCT_US:62436006|UMLS:C0520860	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.	http://purl.obolibrary.org/obo/HP_0030847		
OBO:HP_0030848	Elevated jugular venous pressure	biolink:OntologyClass	hp	SNOMEDCT_US:22447003|UMLS:C0520861	Increased jugular venous pressure.	http://purl.obolibrary.org/obo/HP_0030848		
OBO:HP_0030849	Hepatojugular reflux	biolink:OntologyClass	hp	SNOMEDCT_US:72196001|UMLS:C0239949	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.	http://purl.obolibrary.org/obo/HP_0030849		
OBO:HP_0030850	Abnormal pulse pressure	biolink:OntologyClass	hp	UMLS:C0855322	An anomaly of the pulse pressure, which is defined as the systolic pressured minus the diastolic pressure.	http://purl.obolibrary.org/obo/HP_0030850		
OBO:HP_0030851	Low pulse pressure	biolink:OntologyClass	hp	UMLS:C4280743	Reduced amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure).	http://purl.obolibrary.org/obo/HP_0030851		
OBO:HP_0030852	High pulse pressure	biolink:OntologyClass	hp	UMLS:C0855323	Increased amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure).	http://purl.obolibrary.org/obo/HP_0030852		
OBO:HP_0030853	Heterotaxy	biolink:OntologyClass	hp	Fyler:0190|Fyler:190|MSH:D059446|SNOMEDCT_US:14821001|SNOMEDCT_US:24614000|UMLS:C0266642	An abnormality in which the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body.	http://purl.obolibrary.org/obo/HP_0030853		Heterotaxia
OBO:HP_0030854	Scleral staphyloma	biolink:OntologyClass	hp	SNOMEDCT_US:111534007|UMLS:C0155359	A staphyloma is a localized defect in the eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure.	http://purl.obolibrary.org/obo/HP_0030854		Staphyloma
OBO:HP_0030855	Anterior staphyloma	biolink:OntologyClass	hp	SNOMEDCT_US:231888000|UMLS:C0339206	A localized defect in the anterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure.	http://purl.obolibrary.org/obo/HP_0030855		
OBO:HP_0030856	Posterior staphyloma	biolink:OntologyClass	hp	SNOMEDCT_US:87819007|UMLS:C0155360	A localized defect in the posterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure.	http://purl.obolibrary.org/obo/HP_0030856		
OBO:HP_0030857	Eye movement-induced pain	biolink:OntologyClass	hp	UMLS:C4280742	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.	http://purl.obolibrary.org/obo/HP_0030857		
OBO:HP_0030858	Addictive behavior	biolink:OntologyClass	hp	MSH:D016739|SNOMEDCT_US:32709003|UMLS:C0085281	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.	http://purl.obolibrary.org/obo/HP_0030858		Addictive behaviour
OBO:HP_0030859	Anti-topoisomerase I antibody positivity	biolink:OntologyClass	hp	UMLS:C4280741	The presence of autoantibodies (immunoglobulins) in the serum that react against topoisomerase I.	http://purl.obolibrary.org/obo/HP_0030859		Top1 antibody positivity|Topoisomerase (DNA) I antibody positivity
OBO:HP_0030860	Abnormal CSF amyloid level	biolink:OntologyClass	hp	UMLS:C4280740	Abnormal concentration of amyloid in the cerebrospinal fluid (CSF).	http://purl.obolibrary.org/obo/HP_0030860		Abnormal CSF A[beta]42 level
OBO:HP_0030861	Decreased CSF amyloid level	biolink:OntologyClass	hp	UMLS:C4280739	Reduced concentration of amyloid in the cerebrospinal fluid (CSF).	http://purl.obolibrary.org/obo/HP_0030861		
OBO:HP_0030862	Elevated CSF amyloid level	biolink:OntologyClass	hp	UMLS:C4280738	Increased concentration of amyloid in the cerebrospinal fluid (CSF).	http://purl.obolibrary.org/obo/HP_0030862		
OBO:HP_0030863	Nasal flaring	biolink:OntologyClass	hp	SNOMEDCT_US:21558008|SNOMEDCT_US:248568003|UMLS:C0277873	Widening of the nostrils upon inhalation as a manifestation of respiratory distress.	http://purl.obolibrary.org/obo/HP_0030863		
OBO:HP_0030864	Intercostal retractions	biolink:OntologyClass	hp	SNOMEDCT_US:6442005|UMLS:C0425470	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.	http://purl.obolibrary.org/obo/HP_0030864		Chest retractions
OBO:HP_0030865	Large elbow	biolink:OntologyClass	hp	UMLS:C4280737	Abnormal increased size of the elbow joint.	http://purl.obolibrary.org/obo/HP_0030865		Prominent elbow
OBO:HP_0030866	Large knee	biolink:OntologyClass	hp	UMLS:C4280736	Abnormally increased size of the knee joint.	http://purl.obolibrary.org/obo/HP_0030866		
OBO:HP_0030867	Vertical orbital dystopia	biolink:OntologyClass	hp	SNOMEDCT_US:253243008|UMLS:C0431460	The orbits do not lie on the same horizontal plane, that is, one eye is lower than the other.	http://purl.obolibrary.org/obo/HP_0030867		Eyes at different heights|Misaligned eyes|Unequal eye height
OBO:HP_0030868	Monorchism	biolink:OntologyClass	hp	SNOMEDCT_US:87310001|UMLS:C0266429	Having only one testis in the scrotum.	http://purl.obolibrary.org/obo/HP_0030868		Monorchidism
OBO:HP_0030869	Anorchism	biolink:OntologyClass	hp	MSH:C537770|SNOMEDCT_US:371015003|UMLS:C1261504	An abnormality of XY sexual development characterized by the absence of both testes at birth.	http://purl.obolibrary.org/obo/HP_0030869		
OBO:HP_0030870	Abnormality of spinal facet joint	biolink:OntologyClass	hp	UMLS:C4280735	An anomaly of the small joints located between and behind adjacent vertebrae.	http://purl.obolibrary.org/obo/HP_0030870		Abnormality of Z-joint|Abnormality of apophyseal joint|Abnormality of zygapophyseal joint|Abnormality of zygapophysial joint
OBO:HP_0030871	Facet joint arthrosis	biolink:OntologyClass	hp	UMLS:C4280734	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.	http://purl.obolibrary.org/obo/HP_0030871		Facet arthritis
OBO:HP_0030872	Abnormal cardiac ventricular function	biolink:OntologyClass	hp	UMLS:C4280733	An abnormality of the cardiac ventricular function.	http://purl.obolibrary.org/obo/HP_0030872		
OBO:HP_0030873	Anti-centromere antibody positivity	biolink:OntologyClass	hp	UMLS:C4280732	The presence of autoantibodies (immunoglobulins) in the serum that react against the centromeres or centromere components.	http://purl.obolibrary.org/obo/HP_0030873		ACA positivity|Anti-centromere antibody positivity|Anticentromere antibody positivity
OBO:HP_0030874	Oxygen desaturation on exertion	biolink:OntologyClass	hp	UMLS:C4280731	Oxygen saturation less than 95% on exertion or arterial partial pressure of oxygen falling by more than 1kPa.	http://purl.obolibrary.org/obo/HP_0030874		O2 desaturation on exertion
OBO:HP_0030875	Abnormality of pulmonary circulation	biolink:OntologyClass	hp	UMLS:C4280730	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.	http://purl.obolibrary.org/obo/HP_0030875		Abnormal pulmonary circulation|Abnormality of respiratory circulation
OBO:HP_0030876	Increased pulmonary capillary wedge pressure	biolink:OntologyClass	hp	SNOMEDCT_US:30261008|UMLS:C0520850	Pulmonary capillary wedge pressure (PCWP) above 15mmHg.	http://purl.obolibrary.org/obo/HP_0030876		Increased pulmonary arterial wedge pressure|Increased pulmonary artery occlusion pressure
OBO:HP_0030877	Reduced FEV1/FVC ratio	biolink:OntologyClass	hp	UMLS:C4280729	Abnormally low FEV1/FVC (FEV1 - forced expiratory volume in 1 second; FVC forced vital capacity).	http://purl.obolibrary.org/obo/HP_0030877		Obstructive deficit on pulmonary function test|Obstructive deficit on pulmonary function testing
OBO:HP_0030878	Abnormality on pulmonary function testing	biolink:OntologyClass	hp	UMLS:C4280728	Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography.	http://purl.obolibrary.org/obo/HP_0030878		Abnormal pulmonary function test|Abnormal spirometry test
OBO:HP_0030879	Interlobular septal thickening on pulmonary HRCT	biolink:OntologyClass	hp	UMLS:C4280727	Presence of thickening of the interlobular septa of the lungs as seen on a CT scan.	http://purl.obolibrary.org/obo/HP_0030879		
OBO:HP_0030880	Raynaud phenomenon	biolink:OntologyClass	hp	MSH:D011928|SNOMEDCT_US:266261006|UMLS:C0034735		http://purl.obolibrary.org/obo/HP_0030880		Raynaud's phenomenon|Raynaud disease
OBO:HP_0030881	Shoulder impingement	biolink:OntologyClass	hp	UMLS:C1655733	Trapping and compression of the rotator cuff tendons during shoulder movements.	http://purl.obolibrary.org/obo/HP_0030881		
OBO:HP_0030882	Coronary artery aneurysm	biolink:OntologyClass	hp	Fyler:3129|UMLS:C4255100	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.	http://purl.obolibrary.org/obo/HP_0030882		Coronary arterial dilatation|Coronary artery dilatation|Coronary artery ectasia
OBO:HP_0030883	Femoroacetabular impingement	biolink:OntologyClass	hp	MSH:D057925|SNOMEDCT_US:432473000|UMLS:C2936290	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.	http://purl.obolibrary.org/obo/HP_0030883		Femoral acetabular impingement
OBO:HP_0030884	Gastrojejunal tube feeding in infancy	biolink:OntologyClass	hp	UMLS:C4280681	Feeding problem necessitating gastrojejunal tube feeding.	http://purl.obolibrary.org/obo/HP_0030884		Gastro-jejunal tube feeding in infancy
OBO:HP_0030885	Recurrent parasitic infections	biolink:OntologyClass	hp	UMLS:C4280726	Increased susceptibility to parasitic infections, as manifested by recurrent episodes of parasitic infection.	http://purl.obolibrary.org/obo/HP_0030885		
OBO:HP_0030886	Abnormal lymphocyte apoptosis	biolink:OntologyClass	hp	UMLS:C4280725	A anomaly in the rate of programmed cell death (apoptosis) in lymphocytes.	http://purl.obolibrary.org/obo/HP_0030886		
OBO:HP_0030887	Increased lymphocyte apoptosis	biolink:OntologyClass	hp	UMLS:C4280724	A elevation in the rate of apoptosis in lymphocytes.	http://purl.obolibrary.org/obo/HP_0030887		
OBO:HP_0030888	C3 nephritic factor positivity	biolink:OntologyClass	hp		The presence of autoantibodies (immunoglobulins) in the serum that react against C3 convertase (C3bBb).	http://purl.obolibrary.org/obo/HP_0030888		
OBO:HP_0030889	Congenital shortened small intestine	biolink:OntologyClass	hp		Substantially shortened length of the small intestine as a result of a developmental defect.	http://purl.obolibrary.org/obo/HP_0030889		Short bowel
OBO:HP_0030890	Hyperintensity of cerebral white matter on MRI	biolink:OntologyClass	hp		A brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter.	http://purl.obolibrary.org/obo/HP_0030890		White matter hyperintensity
OBO:HP_0030891	Periventricular white matter hyperdensities	biolink:OntologyClass	hp		Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles.	http://purl.obolibrary.org/obo/HP_0030891		PVWMH|Periventricular cerebral white matter hyperdensities|Periventricular white matter hyperintensities
OBO:HP_0030892	Deep cerebral white matter hyperdensities	biolink:OntologyClass	hp		Areas of brighter than expected signal on magnetic resonance imaging emanating from locations distant from the ventricular system.	http://purl.obolibrary.org/obo/HP_0030892		DWMH|Deep white matter hyperintensities
OBO:HP_0030893	Abnormal response to short acting pulmonary vasodilator	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0030893		
OBO:HP_0030894	Insufficient response to short acting pulmonary vasodilator	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0030894		
OBO:HP_0030895	Abnormal gastrointestinal motility	biolink:OntologyClass	hp		An anomaly of the muscular contractions that propel food though the gastrointestinal tract.	http://purl.obolibrary.org/obo/HP_0030895		Abnormal GI motility
OBO:HP_0030896	Abnormal gastrointestinal transit time	biolink:OntologyClass	hp		A deviation from the normal amount of time required for food to pass through the intestines.	http://purl.obolibrary.org/obo/HP_0030896		Abnormal GI transit time
OBO:HP_0030897	Decreased intestinal transit time	biolink:OntologyClass	hp		A reduction in the length of time required for food to pass through the intestines.	http://purl.obolibrary.org/obo/HP_0030897		
OBO:HP_0030898	Pruritis on abdomen	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0030898		
OBO:HP_0030899	Pruritis on hand	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0030899		
OBO:HP_0030900	Pruritus on foot	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0030900		Itchy feet|Itchy foot
OBO:HP_0030901	Pruritis on breast	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0030901		
OBO:HP_0030902	Palmomental reflex	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0030902		
OBO:HP_0030903	Grasp reflex	biolink:OntologyClass	hp		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].	http://purl.obolibrary.org/obo/HP_0030903		Palmar grasp reflex
OBO:HP_0030904	Glabellar reflex	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0030904		Myerson's sign
OBO:HP_0030905	Snout reflex	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0030905		
OBO:HP_0030906	Suck reflex	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0030906		Persistent nutritive suckle swallow
OBO:HP_0030907	Thunderclap headache	biolink:OntologyClass	hp		Severe head pain with sudden onset, reaching its maximum intensity in less than one minute and lasting from one hour to ten days.	http://purl.obolibrary.org/obo/HP_0030907		
OBO:HP_0030908	Liver kidney microsome type 1 antibody positivity	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0030908		Anti-LKM-1 positive
OBO:HP_0030909	Anti-liver cytosolic antigen type 1 antibody positivity	biolink:OntologyClass	hp		The presence of autoantibodies (immunoglobulins) in the serum that react against a 60-kd peptide contained in the liver cytosolic fraction.	http://purl.obolibrary.org/obo/HP_0030909		Anti-liver cytosol antibody-1 positivity
OBO:HP_0030911	Bifid clitoris	biolink:OntologyClass	hp		Two clitorides located side by side.	http://purl.obolibrary.org/obo/HP_0030911		
OBO:HP_0030912	Duplicated clitoris	biolink:OntologyClass	hp		Supernumerary clitoris.	http://purl.obolibrary.org/obo/HP_0030912		
OBO:HP_0030913	Exaggerated rugosity of the labia majora	biolink:OntologyClass	hp		Marked rugae formation of the skin of the labia majora.	http://purl.obolibrary.org/obo/HP_0030913		Scrotum-like labia majora
OBO:HP_0030914	Abnormal peristalsis	biolink:OntologyClass	hp		An anomaly of the wave-like muscle contractions of the digestive tract.	http://purl.obolibrary.org/obo/HP_0030914		
OBO:HP_0030915	Cerebellar edema	biolink:OntologyClass	hp		Swelling from fluid accumulation (serous fluid infiltration into the interstitial space) in the cerebellum.	http://purl.obolibrary.org/obo/HP_0030915		Cerebellar oedema|Edema of the cerebellum|Oedema of the cerebellum
OBO:HP_0030917	Low APGAR score	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0030917		
OBO:HP_0030918	Low 1-minute APGAR score	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0030918		Low one-minute APGAR score
OBO:HP_0030919	Low 5-minute APGAR score	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0030919		Low five-minute APGAR score
OBO:HP_0030920	5-minute APGAR score of 0	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0030920		
OBO:HP_0030921	5-minute APGAR score of 1	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0030921		
OBO:HP_0030922	5-minute APGAR score of 2	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0030922		
OBO:HP_0030923	5-minute APGAR score of 3	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0030923		
OBO:HP_0030924	5-minute APGAR score of 4	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0030924		
OBO:HP_0030925	5-minute APGAR score of 5	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0030925		
OBO:HP_0030926	5-minute APGAR score of 6	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0030926		
OBO:HP_0030927	1-minute APGAR score of 0	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0030927		
OBO:HP_0030928	1-minute APGAR score of 1	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0030928		
OBO:HP_0030929	1-minute APGAR score of 2	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0030929		
OBO:HP_0030930	1-minute APGAR score of 3	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0030930		
OBO:HP_0030931	1-minute APGAR score of 4	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0030931		
OBO:HP_0030932	1-minute APGAR score of 5	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0030932		
OBO:HP_0030933	1-minute APGAR score of 6	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0030933		
OBO:HP_0030934	Oral erythroplakia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0030934		Oral erythroplasia
OBO:HP_0030935	Abnormality of intestinal smooth muscle morphology	biolink:OntologyClass	hp		A structural anomaly of the nonstriated, involuntary muscle tissue of the intestine.	http://purl.obolibrary.org/obo/HP_0030935		
OBO:HP_0030936	Abnormal layering of muscularis propria	biolink:OntologyClass	hp		Abnormal layering of the intestinal muscularis propria into three layers; (1) inner circular; (2) additional oblique; and (3) outer longitudinal layer.	http://purl.obolibrary.org/obo/HP_0030936		Muscularis propria malformation|Segmental additional circular muscle coat
OBO:HP_0030937	Fibrotic muscularis propria	biolink:OntologyClass	hp		The presence of excessive fibrous connective tissue in the muscularis propria of the intestine. Fibrosis is a reparative or reactive process.	http://purl.obolibrary.org/obo/HP_0030937		
OBO:HP_0030938	Enteric intraneuronal nuclear inclusion bodies	biolink:OntologyClass	hp		Aggregates of stainable substances (proteins) in the nuclei of enteric neurons.	http://purl.obolibrary.org/obo/HP_0030938		
OBO:HP_0030939	Palpebral thickening	biolink:OntologyClass	hp		An increased thickness of the eyelid not related to acute inflammation.	http://purl.obolibrary.org/obo/HP_0030939		Eyelid thickening|Thick eyelids|Thickened but nonswollen eyelids|Thickened eyelid
OBO:HP_0030943	Vulvodynia	biolink:OntologyClass	hp		Pain in the vulvar area	http://purl.obolibrary.org/obo/HP_0030943		Vulvar pain
OBO:HP_0030946	Conjunctival papillae	biolink:OntologyClass	hp		Raised tissue masses located on the palpebral conjunctiva with a central vessel. Papillae are created by a focal infiltration of inflammatory cells.	http://purl.obolibrary.org/obo/HP_0030946		
OBO:HP_0030947	Conjunctival follicles	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0030947		
OBO:HP_0030948	Elevated gamma-glutamyltransferase level	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0030948		Elevated serum GGT
OBO:HP_0030949	Glomerular deposits	biolink:OntologyClass	hp		An abnormal accumulation of protein in the glomerulus.	http://purl.obolibrary.org/obo/HP_0030949		
OBO:HP_0030950	Pulmonary venous hypertension	biolink:OntologyClass	hp		An abnormal increase in pressure in the pulmonary veins, usually as a result of left atrial hypertension.	http://purl.obolibrary.org/obo/HP_0030950		
OBO:HP_0030951	Skeletal muscle fibrosis	biolink:OntologyClass	hp		Excessive formation of fibrous bands of scar tissue in between muscle fibers.	http://purl.obolibrary.org/obo/HP_0030951		
OBO:HP_0030952	Birdshot choroidal lesions	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0030952		
OBO:HP_0030953	Conjunctival hyperemia	biolink:OntologyClass	hp		Dilatation of the blood vessels of the conjunctiva leading to a red appearance of the sclera.	http://purl.obolibrary.org/obo/HP_0030953		Conjunctival hyperaemia|Conjunctival injection|Conjunctival vascular congestion
OBO:HP_0030955	Alcoholism	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0030955		
OBO:HP_0030956	Abnormality of cardiovascular system electrophysiology	biolink:OntologyClass	hp		An anomaly of the electrical conduction physiology of the heart.	http://purl.obolibrary.org/obo/HP_0030956		
OBO:HP_0030957	Ventricular septal aneurysm	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0030957		Ventricular septal dilatation
OBO:HP_0030958	Membranous ventricular septal aneurysm	biolink:OntologyClass	hp	Fyler:2346	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).	http://purl.obolibrary.org/obo/HP_0030958		Interventricular septum membranous part aneurysm|Aneurysm of the membranous ventricular septum
OBO:HP_0030959	Muscular ventricular septal aneurysm	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0030959		Aneurysm of the muscular ventricular septum
OBO:HP_0030960	obsolete Abnormal pupillary morphology	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0030960		
OBO:HP_0030961	Microspherophakia	biolink:OntologyClass	hp		Lens of the eye is smaller than normal and spherically shaped.	http://purl.obolibrary.org/obo/HP_0030961		
OBO:HP_0030962	Abnormal morphology of the great vessels	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0030962		
OBO:HP_0030963	obsolete Abnormal aortic morphology	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0030963		
OBO:HP_0030964	Abnormal aortic physiology	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0030964		
OBO:HP_0030965	Aortic stiffness	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0030965		Increased aortic stiffness
OBO:HP_0030966	Abnormal pulmonary artery morphology	biolink:OntologyClass	hp		An abnormality of the structure of the pulmonary artery.	http://purl.obolibrary.org/obo/HP_0030966		
OBO:HP_0030967	Abnormal pulmonary artery physiology	biolink:OntologyClass	hp		An abnormality of the function of the pulmonary artery.	http://purl.obolibrary.org/obo/HP_0030967		
OBO:HP_0030968	Abnormal pulmonary vein morphology	biolink:OntologyClass	hp	Fyler:3000	An abnormality of the structure of the pulmonary veins.	http://purl.obolibrary.org/obo/HP_0030968		
OBO:HP_0030969	Abnormal pulmonary vein physiology	biolink:OntologyClass	hp		An abnormality of the function of the pulmonary veins.	http://purl.obolibrary.org/obo/HP_0030969		
OBO:HP_0030970	Abnormal vena cava physiology	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0030970		
OBO:HP_0030971	obsolete Abnormal vena cava morphology	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0030971		
OBO:HP_0030972	Abnormal systemic blood pressure	biolink:OntologyClass	hp		A chronic deviation from normal pressure in the systemic arterial system.	http://purl.obolibrary.org/obo/HP_0030972		Abnormal systemic BP
OBO:HP_0030973	Postexertional malaise	biolink:OntologyClass	hp		A subjective feeling of tiredness characterized by a lack of energy and motivation and that is induced by exertion or exercise.	http://purl.obolibrary.org/obo/HP_0030973		Exercise-induced fatigue|Exercise-induced malaise|Postexertional fatigue
OBO:HP_0030974	Cryptozoospermia	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0030974		Cryptospermia
OBO:HP_0030975	Pontine tegmental cap	biolink:OntologyClass	hp		An abnormal curved or vaulted (capped) structure covering the middle third of the dorsal pontine tegmentum and projecting into the fourth ventricle.	http://purl.obolibrary.org/obo/HP_0030975		Vaulted pontine tegmentum
OBO:HP_0030976	Abnormal factor VIII activity	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0030976		
OBO:HP_0030977	Increased factor VIII activity	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0030977		
OBO:HP_0030978	Decreased CSF/serum albumin ratio	biolink:OntologyClass	hp		A reduction below normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration.	http://purl.obolibrary.org/obo/HP_0030978		
OBO:HP_0030979	Dilatation of large choroidal vessels	biolink:OntologyClass	hp		Enlargement of the large blood vessels in the choroid.	http://purl.obolibrary.org/obo/HP_0030979		Dilated choroidal vessels
OBO:HP_0030980	Reduced brain glutamine level by MRS	biolink:OntologyClass	hp		An decrease in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS).	http://purl.obolibrary.org/obo/HP_0030980		
OBO:HP_0030981	Abnormal CSF/serum albumin ratio	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0030981		
OBO:HP_0030983	Ovarian thecoma	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0030983		
OBO:HP_0030984	Abnormal serum bile acid concentration	biolink:OntologyClass	hp		A deviation from the normal concentration of serum bile acid concentration.	http://purl.obolibrary.org/obo/HP_0030984		
OBO:HP_0030985	Decreased serum bile concentration	biolink:OntologyClass	hp		A reduction in the concentration of bile acid in the blood.	http://purl.obolibrary.org/obo/HP_0030985		
OBO:HP_0030986	Biliary epithelial hyperplasia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0030986		
OBO:HP_0030987	Suppurative cholangitis	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0030987		
OBO:HP_0030988	Granulomatous cholangitis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0030988		
OBO:HP_0030989	Lymphoid cholangitis	biolink:OntologyClass	hp		Cholangitis characterized by a close association between duct branches, usually interlobular bile ducts, and lymphocytic aggregates, which may show a follicular arrangement.	http://purl.obolibrary.org/obo/HP_0030989		
OBO:HP_0030990	Pleomorphic cholangitis	biolink:OntologyClass	hp		Cholangitis associated with mixed inflammatory infiltrates and the presence of fibrosis or sclerosis of the biliary tree.	http://purl.obolibrary.org/obo/HP_0030990		
OBO:HP_0030991	Sclerosing cholangitis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0030991		Fibrous cholangitis
OBO:HP_0030992	Abnormal pancreatic duct morphology	biolink:OntologyClass	hp		Any structural anomaly of the pancreatic duct, which is the tubular structure that collects exocrine pancreatic secretions and transports them to the duodenum.	http://purl.obolibrary.org/obo/HP_0030992		
OBO:HP_0030993	Duplication of pancreatic duct	biolink:OntologyClass	hp		A congenital anomaly characterized by the presence of two separate pancreatic ducts.	http://purl.obolibrary.org/obo/HP_0030993		Duplicated pancreatic duct
OBO:HP_0030994	Pancreas divisum	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0030994		
OBO:HP_0030995	Peritoneal effusion	biolink:OntologyClass	hp		An increase in the amount of fluid present in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen).	http://purl.obolibrary.org/obo/HP_0030995		
OBO:HP_0030996	Megaduodenum	biolink:OntologyClass	hp		Dilation and elongation of the duodenum with hypertrophy of all layers of the duodenum.	http://purl.obolibrary.org/obo/HP_0030996		
OBO:HP_0030997	Atretic vas deferens	biolink:OntologyClass	hp		Abnormal closure or blockage of the vas deferens.	http://purl.obolibrary.org/obo/HP_0030997		Atresia of the vas deferens|Vas deferens atresia
OBO:HP_0030998	Cerebrospinal fluid rhinorrhoea	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0030998		CSF rhinorrhoea
OBO:HP_0030999	Abnormal vestibular saccule morphology	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0030999		
OBO:HP_0031000	Vestibular saccular degeneration	biolink:OntologyClass	hp		Deterioration or loss of the tissues of the saccule of the vestibule.	http://purl.obolibrary.org/obo/HP_0031000		
OBO:HP_0031001	Minifascicle formation	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031001		
OBO:HP_0031002	Neuritis	biolink:OntologyClass	hp		Inflammation of a nerve.	http://purl.obolibrary.org/obo/HP_0031002		
OBO:HP_0031003	Polyneuritis	biolink:OntologyClass	hp		Simulataneous inflammation of multiple nerves.	http://purl.obolibrary.org/obo/HP_0031003		Multiple neuritis
OBO:HP_0031004	Hemiareflexia	biolink:OntologyClass	hp		Areflexia that is limited to one side of the body.	http://purl.obolibrary.org/obo/HP_0031004		
OBO:HP_0031005	Hyperalgesia	biolink:OntologyClass	hp		Abnormally increased sensitivity to pain.	http://purl.obolibrary.org/obo/HP_0031005		
OBO:HP_0031006	Acroparesthesia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031006		
OBO:HP_0031007	Orofacial action-specific dystonia induced by speech	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0031007		Jaw dystonia induced by speaking
OBO:HP_0031008	Lingual dystonia	biolink:OntologyClass	hp		Involuntary protrusions, movements, spams and contortions of the tongue.	http://purl.obolibrary.org/obo/HP_0031008		Tongue dystonia
OBO:HP_0031009	Ainhum	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031009		Dactylolysis spontanea
OBO:HP_0031010	Hyperphalangy of the 3rd finger	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031010		Hyperphalangy of third finger
OBO:HP_0031011	Fatty streak	biolink:OntologyClass	hp		Yellow-colored streaks, patches, or spots on the intimal surface of arteries. Fatty streaks stain red with Sudan III or Sudan IV.	http://purl.obolibrary.org/obo/HP_0031011		Sudanophilic lesion
OBO:HP_0031012	Thin-cap fibroatheroma	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031012		TCFA
OBO:HP_0031013	Ankylosis	biolink:OntologyClass	hp		A reduction of joint mobility resulting from changes involving the articular surfaces.	http://purl.obolibrary.org/obo/HP_0031013		
OBO:HP_0031014	Arteria lusoria	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031014		Aberrant right subclavian artery|Lusorian artery
OBO:HP_0031015	Intrahepatic portal vein sclerosis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031015		Idiopathic non-cirrhotic portal hypertension|Incomplete septal cirrhosis|Non cirrhotic portal fibrosis|Obliterative portal venopathy
OBO:HP_0031016	Alternating radiolucent and radiodense metaphyseal lines	biolink:OntologyClass	hp		Areas of radio-opaque sclerotic bands alternating with those of normal lucency give rise to stripes akin to a zebra.	http://purl.obolibrary.org/obo/HP_0031016		Zebra stripe sign
OBO:HP_0031017	Swiss cheese atrial septal defect	biolink:OntologyClass	hp		Multiple defects in the atrial septum.	http://purl.obolibrary.org/obo/HP_0031017		
OBO:HP_0031018	Eccrine syringofibroadenoma	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0031018		Acrosyringeal adenomatosis|Eccrine syringofibroadenomatous hyperplasia|Syringofibroadenoma
OBO:HP_0031019	Pyknotic bone marrow neutrophils	biolink:OntologyClass	hp		Nuclear lobes of neutrophils in the bone marrow are thickened and condensed, and individual lobes are connected by unusually long chromatin filaments.	http://purl.obolibrary.org/obo/HP_0031019		
OBO:HP_0031020	Bone marrow hypercellularity	biolink:OntologyClass	hp		A larger than normal amount or percentage of hematopoietic cells relative to marrow fat.	http://purl.obolibrary.org/obo/HP_0031020		
OBO:HP_0031021	Squamous Papilloma	biolink:OntologyClass	hp	NCIT:C3712	A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy [NCI thesaurus].	http://purl.obolibrary.org/obo/HP_0031021		
OBO:HP_0031022	Oropharyngeal squamous papilloma	biolink:OntologyClass	hp	NCIT:C6038	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].	http://purl.obolibrary.org/obo/HP_0031022		
OBO:HP_0031023	Multiple mucosal neuromas	biolink:OntologyClass	hp	NCIT:C6559	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.	http://purl.obolibrary.org/obo/HP_0031023		
OBO:HP_0031024	Cylindroma	biolink:OntologyClass	hp		A benign skin adnexal tumor of eccrine differentiation.	http://purl.obolibrary.org/obo/HP_0031024		
OBO:HP_0031025	Gastric leiomyosarcoma	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031025		
OBO:HP_0031026	Snail-like ilia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031026		Snail-like pelvis|Snail-shaped ilia|Schneckenbecken dysplasia
OBO:HP_0031027	Internal notch of the femoral head	biolink:OntologyClass	hp		A small V-shaped indentation on the internal aspect of the femoral head. This feature is well illustrated in Figure 5 of PMID:11694546.	http://purl.obolibrary.org/obo/HP_0031027		
OBO:HP_0031028	Lactescent serum	biolink:OntologyClass	hp		Serum sample with a grossly white (milk-like, i.e., lactescent) appearance. This feature is indicative of an extremely elevated serum triglyceride level.	http://purl.obolibrary.org/obo/HP_0031028		Milk-like serum|Plasma lactescence
OBO:HP_0031029	Elevated carcinoembryonic antigen level	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031029		Increased plasma CEA
OBO:HP_0031030	Elevated carcinoma antigen 125 level	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031030		Increased plasma CA125
OBO:HP_0031031	Abnormal retinol-binding protein level	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031031		
OBO:HP_0031032	Decreased retinol-binding protein level	biolink:OntologyClass	hp		A reduced blood concentration of retinol-binding protein. This finding predicts vitamin A deficiency with high sensitivity and specificity.	http://purl.obolibrary.org/obo/HP_0031032		
OBO:HP_0031033	Impaired urinary acidification	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031033		Renal acidification defect
OBO:HP_0031034	Abnormal insulin like growth factor binding protein acid labile subunit level	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031034		
OBO:HP_0031035	Chronic infection	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031035		
OBO:HP_0031036	Reduced growth-hormone binding protein level	biolink:OntologyClass	hp		A decreased blood concentration of growth hormone binding protein.	http://purl.obolibrary.org/obo/HP_0031036		Decreased plasma GH-binding protein
OBO:HP_0031037	Reduced insulin-like factor 3 level	biolink:OntologyClass	hp		Blood concentration of insulin-like factor 3 (ILF3) is below normal limits.	http://purl.obolibrary.org/obo/HP_0031037		Reduced plasma INSL3 level
OBO:HP_0031038	Spermatogenesis maturation arrest	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031038		Meiotic maturation arrest of spermatogenesis
OBO:HP_0031039	Early spermatogenesis maturation arrest	biolink:OntologyClass	hp		A type of maturation arrest in which only spermatogonia or spermatocytes are found.	http://purl.obolibrary.org/obo/HP_0031039		
OBO:HP_0031040	Late spermatogenesis maturation arrest	biolink:OntologyClass	hp		A type of maturation arrest in which spermatids are detected without spermatozoa.	http://purl.obolibrary.org/obo/HP_0031040		Maturation arrest of spermatogenesis at spermatid stage
OBO:HP_0031041	Obstruction of the superior vena cava	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031041		Superior vena cava obstruction|Superior vena cava syndrome
OBO:HP_0031042	Strawberry tongue	biolink:OntologyClass	hp		Inflammed tongue with hyperplastic (enlarged) fungiform papillae that is said to resemble a strawberry or raspberry.	http://purl.obolibrary.org/obo/HP_0031042		Raspberry tongue
OBO:HP_0031043	Type A4 brachydactyly	biolink:OntologyClass	hp		A type of brachydactyly characterized by brachymesophalangy affecting mainly the 2nd and 5th digits.	http://purl.obolibrary.org/obo/HP_0031043		
OBO:HP_0031044	Type A5 brachydactyly	biolink:OntologyClass	hp		A type of brachydactyly characterized by absent middle phalanges of digits 2 to 5.	http://purl.obolibrary.org/obo/HP_0031044		
OBO:HP_0031045	Acral blistering	biolink:OntologyClass	hp		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)	http://purl.obolibrary.org/obo/HP_0031045		
OBO:HP_0031046	Absent soft palate	biolink:OntologyClass	hp		A developmental defect characterized by lack of a soft palate.	http://purl.obolibrary.org/obo/HP_0031046		Agenesis of the soft palate
OBO:HP_0031047	Paraproteinemia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031047		Monoclonal hypergammaglobulinemia
OBO:HP_0031048	Light-chain paraproteinemia	biolink:OntologyClass	hp		An abnormal immunoglobulin light chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells.	http://purl.obolibrary.org/obo/HP_0031048		
OBO:HP_0031049	Heavy-chain paraproteinemia	biolink:OntologyClass	hp		An abnormal immunoglobulin heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells.	http://purl.obolibrary.org/obo/HP_0031049		
OBO:HP_0031050	Whole-immunoglobulin paraproteinemia	biolink:OntologyClass	hp		An abnormal immunoglobulin (heavy and light chain) in the circulation and typically produced by a clonal population of B-cell derived plasma cells.	http://purl.obolibrary.org/obo/HP_0031050		
OBO:HP_0031051	Tarsal sclerosis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031051		
OBO:HP_0031052	Elevated vascular endothelial growth factor level	biolink:OntologyClass	hp		Increased blood concentration of vascular endothelial growth factor (VEGF).	http://purl.obolibrary.org/obo/HP_0031052		
OBO:HP_0031053	Coarctation in the transverse aortic arch	biolink:OntologyClass	hp		Narrowing or constriction of the aorta localized to the region of the transverse aortic arch.	http://purl.obolibrary.org/obo/HP_0031053		
OBO:HP_0031054	Long segment coarctation of the aorta	biolink:OntologyClass	hp		Coarctation of the aorta is a narrowing or constriction of a long segment of the arch of the aorta.	http://purl.obolibrary.org/obo/HP_0031054		
OBO:HP_0031055	Abnormal branching pattern of left aortic arch	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0031055		
OBO:HP_0031056	Fusiform cerebral aneurysm	biolink:OntologyClass	hp		A localized circumferential (i.e., bulges on all sides) dilatation or ballooning of a cerebral artery.	http://purl.obolibrary.org/obo/HP_0031056		Intracranial fusiform aneurysm
OBO:HP_0031057	Skin fissure	biolink:OntologyClass	hp		A clearly-defined and roughly linear cleavage in the skin that usually extends to the dermis.	http://purl.obolibrary.org/obo/HP_0031057		Cracked skin
OBO:HP_0031058	Impairment of activities of daily living	biolink:OntologyClass	hp		Difficulty in performing one or more activities normally performed every day, such as eating, bathing, dressing, grooming, work, homemaking, and leisure.	http://purl.obolibrary.org/obo/HP_0031058		
OBO:HP_0031059	Impaired ability to bathe oneself	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031059		
OBO:HP_0031060	Impaired ability to dress oneself	biolink:OntologyClass	hp		This applies to an individual who needs help with dressing or needs to be completely dressed.	http://purl.obolibrary.org/obo/HP_0031060		
OBO:HP_0031061	Impaired toileting ability	biolink:OntologyClass	hp		This term applies to an individual who requires help transferring to the toilet, cleaning self or who uses bedpan or commode.	http://purl.obolibrary.org/obo/HP_0031061		
OBO:HP_0031062	Impaired transferring ability	biolink:OntologyClass	hp		Applies to an individual who needs help in moving from bed to chair or requires a complete transfer.	http://purl.obolibrary.org/obo/HP_0031062		
OBO:HP_0031063	Impaired feeding ability	biolink:OntologyClass	hp		Applies to an individual who needs partial or total help with feeding or requires parenteral feeding.	http://purl.obolibrary.org/obo/HP_0031063		
OBO:HP_0031064	Impaired continence	biolink:OntologyClass	hp		Partial or total incontinence of bowel or bladder.	http://purl.obolibrary.org/obo/HP_0031064		
OBO:HP_0031065	Abnormal ovarian morphology	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0031065		
OBO:HP_0031066	Abnormal ovarian physiology	biolink:OntologyClass	hp		Any anomaly of ovarian function.	http://purl.obolibrary.org/obo/HP_0031066		
OBO:HP_0031067	Empty ovarian follicle	biolink:OntologyClass	hp		A failure to collect oocytes after an apparently normal controlled ovarian hyperstimulation cycle for in vitro fertilization.	http://purl.obolibrary.org/obo/HP_0031067		Empty follicle syndrome
OBO:HP_0031068	Increased femoral torsion	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031068		
OBO:HP_0031069	Abnormal femoral torsion	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031069		
OBO:HP_0031070	Decreased femoral torsion	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031070		
OBO:HP_0031071	Abnormal endocrine morphology	biolink:OntologyClass	hp		Any anomaly of the structure of an organ ofthe endocrine system.	http://purl.obolibrary.org/obo/HP_0031071		
OBO:HP_0031072	Abnormal endocrine physiology	biolink:OntologyClass	hp		Any anomaly of the function of the endocrine system.	http://purl.obolibrary.org/obo/HP_0031072		
OBO:HP_0031073	Abnormal response to endocrine stimulation test	biolink:OntologyClass	hp		An anomalous response to a test that is designed to probe the function of the endocrine system.	http://purl.obolibrary.org/obo/HP_0031073		
OBO:HP_0031074	Abnormal response to ACTH stimulation test	biolink:OntologyClass	hp		An anomolous response to stimulation by adminstration of the adrenocorticotropic hormone (ACTH). ACTH stimulation normally stimulates the adrenal glands to release cortisol and adrenaline.	http://purl.obolibrary.org/obo/HP_0031074		Abnormal response to adrenocorticotropic-hormone stimulation test|Abnormal response to corticotropin stimulation test
OBO:HP_0031075	Abnormal response to insulin tolerance test	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031075		
OBO:HP_0031076	Impaired cortisol response to insulin stimulation test	biolink:OntologyClass	hp		Failure of cortisol levels to respond adequately (by increasing) to the insulin tolerance test (ITT).	http://purl.obolibrary.org/obo/HP_0031076		
OBO:HP_0031077	Abnormal response to corticotropin releasing hormone stimulation test	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031077		Abnormal response to CRH stimulation test
OBO:HP_0031078	Impaired cortisol response to corticotropin releasing hormone stimulation test	biolink:OntologyClass	hp		Failure of cortisol levels to respond adequately (by increasing) to the corticotropin releasing hormone stimulation test.	http://purl.obolibrary.org/obo/HP_0031078		
OBO:HP_0031079	Impaired growth-hormone response to insulin stimulation test	biolink:OntologyClass	hp		Failure of growth hormone levels to respond adequately (by increasing) to the insulin tolerance test (ITT).	http://purl.obolibrary.org/obo/HP_0031079		
OBO:HP_0031080	Abnormal response to glucagon stimulation test	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0031080		
OBO:HP_0031081	Impaired cortisol response to glucagon stimulation test	biolink:OntologyClass	hp		Failure of cortisol levels to respond adequately (by increasing) to the glucagon stimulation test.	http://purl.obolibrary.org/obo/HP_0031081		
OBO:HP_0031082	Impaired growth-hormone response to glucagon stimulation test	biolink:OntologyClass	hp		Failure of growth hormone levels to respond adequately (by increasing) to the glucagon stimulation test.	http://purl.obolibrary.org/obo/HP_0031082		
OBO:HP_0031083	Abnormal response to human chorionic gonadotrophin stimulation test	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031083		Abnormal response to hCG stimulation test
OBO:HP_0031084	Excessive insulin response to glucagon test	biolink:OntologyClass	hp		An abnormally high increase in insulin levels following a glucagon stimulation test.	http://purl.obolibrary.org/obo/HP_0031084		
OBO:HP_0031085	Decreased prealbumin level	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031085		
OBO:HP_0031086	Ectopic ovary	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031086		Undescended ovary
OBO:HP_0031087	Absent pubertal growth spurt	biolink:OntologyClass	hp		The abrupt and transient increase in the annual growth rate normally observed in adolescent individuals does not occur.	http://purl.obolibrary.org/obo/HP_0031087		Absent adolescent growth spurt
OBO:HP_0031088	Vaginal dryness	biolink:OntologyClass	hp		Persistent vaginal dryness.	http://purl.obolibrary.org/obo/HP_0031088		
OBO:HP_0031089	Palatal edema	biolink:OntologyClass	hp		Swelling related to fluid accumulation within the palate.	http://purl.obolibrary.org/obo/HP_0031089		Palatal oedema|Palate edema
OBO:HP_0031090	Finger dactylitis	biolink:OntologyClass	hp		Fingers appear swollen and plump owing to inflammation of the complete finger.	http://purl.obolibrary.org/obo/HP_0031090		Sausage fingers
OBO:HP_0031091	Toe dactylitis	biolink:OntologyClass	hp		Toes appear swollen and plump owing to inflammation of the complete toe.	http://purl.obolibrary.org/obo/HP_0031091		Sausage toes
OBO:HP_0031092	Spindle-shaped finger	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0031092		
OBO:HP_0031093	Abnormal breast morphology	biolink:OntologyClass	hp		Any anomaly of the structure of the breast.	http://purl.obolibrary.org/obo/HP_0031093		
OBO:HP_0031094	Abnormal breast physiology	biolink:OntologyClass	hp		Any anomaly of the function of the breast.	http://purl.obolibrary.org/obo/HP_0031094		
OBO:HP_0031095	Abnormal humerus morphology	biolink:OntologyClass	hp		Any anomaly of the structure of the humerus.	http://purl.obolibrary.org/obo/HP_0031095		
OBO:HP_0031096	Delayed vertebral ossification	biolink:OntologyClass	hp		A decrease in the amount of mineralized bone in one or more vertebrae compared with that expected for a given developmental age.	http://purl.obolibrary.org/obo/HP_0031096		
OBO:HP_0031097	Abnormal thyroid-stimulating hormone level	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031097		Abnormal TSH level|Abnormal circulating thyrotropin concentration|Abnormal thyrotropin level
OBO:HP_0031098	Decreased thyroid-stimulating hormone level	biolink:OntologyClass	hp		Reduced amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland.	http://purl.obolibrary.org/obo/HP_0031098		Decreased plasma TSH|Decreased thyrotropin level
OBO:HP_0031099	Abnormal circulating inhibin level	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031099		
OBO:HP_0031100	Decreased inhibin B level	biolink:OntologyClass	hp		A reduced concentration of inhibin B in the blood.	http://purl.obolibrary.org/obo/HP_0031100		
OBO:HP_0031101	Abnormal antimullerian hormone level	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031101		
OBO:HP_0031102	Increased antimullerian hormone level	biolink:OntologyClass	hp		An elevation above the normal range of the antimullerian hormone in the circulation.	http://purl.obolibrary.org/obo/HP_0031102		Increased plasma AMH
OBO:HP_0031103	Decreased antimullerian hormone level	biolink:OntologyClass	hp		A reduction below the normal range of the antimullerian hormone in the circulation.	http://purl.obolibrary.org/obo/HP_0031103		Decreased plasma AMH
OBO:HP_0031104	Insulin receptor antibody positivity	biolink:OntologyClass	hp		The presence of autoantibodies (immunoglobulins) in the serum that react against the insulin receptor.	http://purl.obolibrary.org/obo/HP_0031104		
OBO:HP_0031105	Abnormal uterus morphology	biolink:OntologyClass	hp		Any anomaly of the structure of the uterus	http://purl.obolibrary.org/obo/HP_0031105		
OBO:HP_0031106	T-shaped uterus	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031106		
OBO:HP_0031107	Decreased fibular diameter	biolink:OntologyClass	hp		Reduced width of the cross sectional diameter of the fibula.	http://purl.obolibrary.org/obo/HP_0031107		Thin fibula
OBO:HP_0031108	Triceps weakness	biolink:OntologyClass	hp		A lack of strength in the triceps muscle, which normally is responsible for extending (straightening) the elbow and mediating certain shoulder movements.	http://purl.obolibrary.org/obo/HP_0031108		
OBO:HP_0031109	Agalactia	biolink:OntologyClass	hp		Failure of secretion of milk following childbirth associated with an inability to breastfeed an infant.	http://purl.obolibrary.org/obo/HP_0031109		Lactation incapacity
OBO:HP_0031110	Twin-to-twin transfusion	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031110		Twin to twin transfusion syndrome
OBO:HP_0031111	Cutaneous hamartoma	biolink:OntologyClass	hp		A hamartoma (tissue malformation consisting of an abnormal mixture of constitutive components) originating in the skin.	http://purl.obolibrary.org/obo/HP_0031111		Skin hamartoma
OBO:HP_0031117	Purely bicuspid aortic valve	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031117		
OBO:HP_0031118	Single raphe bicuspid aortic valve	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031118		
OBO:HP_0031119	Bicuspid aortic valve with right-left cusp fusion	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031119		
OBO:HP_0031120	Bicuspid aortic valve with right-noncoronary cusp fusion	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031120		
OBO:HP_0031121	Bicuspid aortic valve with left-noncoronary cusp fusion	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031121		
OBO:HP_0031122	Two-raphe bicuspid aortic valve	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031122		
OBO:HP_0031123	Recurrent gastroenteritis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031123		
OBO:HP_0031124	Decreased platelet thromboxane A2 receptor	biolink:OntologyClass	hp		Decreased cell membrane concentration of thromboxane A2 receptor that is stimulated by thromboxane A2 (TBXA2).	http://purl.obolibrary.org/obo/HP_0031124		
OBO:HP_0031125	Decreased platelet alpha-2A-adrenergic receptor	biolink:OntologyClass	hp		Decreased cell membrane concentration of alpha-2A adrenergic receptor that is stimulated by epinephrine.	http://purl.obolibrary.org/obo/HP_0031125		
OBO:HP_0031126	Impaired clot retraction	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031126		
OBO:HP_0031127	Impaired convulxin-induced platelet aggregation	biolink:OntologyClass	hp		Abnormal response to convulxin as manifested by reduced or lacking aggregation of platelets upon addition of convulxin.	http://purl.obolibrary.org/obo/HP_0031127		
OBO:HP_0031128	Impaired collagen-related peptide-induced platelet aggregation	biolink:OntologyClass	hp		Abnormal response to collagen-related peptide (CRP) as manifested by reduced or lacking aggregation of platelets upon addition of CRP.	http://purl.obolibrary.org/obo/HP_0031128		
OBO:HP_0031129	Impaired phorbol myristate acetate-induced platelet aggregation	biolink:OntologyClass	hp		Abnormal response to phorbol myristate acetate (PMA) as manifested by reduced or lacking aggregation of platelets upon addition of PMA.	http://purl.obolibrary.org/obo/HP_0031129		
OBO:HP_0031130	Impaired calcium ionophore-induced platelet aggregation	biolink:OntologyClass	hp		Abnormal response to calcium Ionophore (such as A23187) as manifested by reduced or lacking aggregation of platelets upon addition of the ionophore.	http://purl.obolibrary.org/obo/HP_0031130		Impaired Ca ionophore-induced platelet aggregation|Impaired Ca2+ ionophore-induced platelet aggregation
OBO:HP_0031131	Abnormal platelet phosphatidylserine exposure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031131		
OBO:HP_0031132	Impaired annexin V binding to platelet phosphatidylserine	biolink:OntologyClass	hp		Reduced binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry.	http://purl.obolibrary.org/obo/HP_0031132		
OBO:HP_0031133	Increased annexin V binding to platelet phosphatidylserine	biolink:OntologyClass	hp		Elevated binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry.	http://purl.obolibrary.org/obo/HP_0031133		
OBO:HP_0031134	Cor triatrium sinister	biolink:OntologyClass	hp		A developmental anomaly of the heart characterized by the presence of three atria because the left atrium is divided by an abnormal septum.	http://purl.obolibrary.org/obo/HP_0031134		
OBO:HP_0031135	Triggered by physical trauma	biolink:OntologyClass	hp		Applies to a sign or symptom that is provoked or brought about by exposure to a trauma (injury to tissue).	http://purl.obolibrary.org/obo/HP_0031135		Physical trauma triggered symptoms
OBO:HP_0031136	Decreased acrosin in sperm head	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031136		
OBO:HP_0031137	Storage in hepatocytes	biolink:OntologyClass	hp		Hepatocytes (liver parenchymal cells) exhibit a bloated appearance because of expansion of the cytoplasm by accumulated material.	http://purl.obolibrary.org/obo/HP_0031137		
OBO:HP_0031138	Abnormal B-type natriuretic peptide level	biolink:OntologyClass	hp		A deviation from the normal circulating concentration of B-type natriuretic peptide (BNP).	http://purl.obolibrary.org/obo/HP_0031138		
OBO:HP_0031139	Frog-leg posture	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031139		
OBO:HP_0031140	Abnormal liver sonography	biolink:OntologyClass	hp		An abnormal appearance of the liver or any of its components on sonography (ultrasound).	http://purl.obolibrary.org/obo/HP_0031140		
OBO:HP_0031141	Increased hepatic echogenicity	biolink:OntologyClass	hp		Increased echogenicity of liver tissue on sonography, manifested as an increased amount of white on the screen of the sonography device.	http://purl.obolibrary.org/obo/HP_0031141		Hyperechogenic liver
OBO:HP_0031142	Abnormal hepatic echogenicity	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0031142		
OBO:HP_0031143	Decreased hepatic echogenicity	biolink:OntologyClass	hp		Reduced echogenicity of liver tissue on sonography, manifested as an increased amount of black on the screen of the sonography device.	http://purl.obolibrary.org/obo/HP_0031143		Hypoechogenic liver
OBO:HP_0031144	Coarsened hepatic echotexture	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031144		
OBO:HP_0031145	Starry sky appearance on hepatic sonography	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0031145		
OBO:HP_0031146	Impaired oral bolus formation	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031146		
OBO:HP_0031150	Vitreomacular adhesion	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031150		VMA
OBO:HP_0031151	Vitreomacular traction	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031151		VMT
OBO:HP_0031152	Full-thickness macular hole	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031152		FTMH
OBO:HP_0031153	Membranous vitreous appearance	biolink:OntologyClass	hp		Vitreous humor of the eye displaying consisting of a vestigial gel in the retrolental space bounded by a convoluted membrane.	http://purl.obolibrary.org/obo/HP_0031153		Membranous anomaly|Membranous vitreous|Membranous vitreous phenotype
OBO:HP_0031154	Beaded vitreous appearance	biolink:OntologyClass	hp		Vitreous humor of the eye displaying beaded bundles of irregular diameters.	http://purl.obolibrary.org/obo/HP_0031154		
OBO:HP_0031155	Increased Arden ratio of electrooculogram	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031155		Increased Arden ratio of EOG
OBO:HP_0031156	Decreased platelet glycoprotein Ib	biolink:OntologyClass	hp		Decreased platelet cell membrane concentration of glycoprotein Ib.	http://purl.obolibrary.org/obo/HP_0031156		
OBO:HP_0031157	Carotid cavernous fistula	biolink:OntologyClass	hp		An abnormal connection between a carotid artery and the cavernous sinus.	http://purl.obolibrary.org/obo/HP_0031157		Caroticocavernous fistula
OBO:HP_0031158	Widened atrophic scar	biolink:OntologyClass	hp		An atrophic scar (fibrous connective tissue resulting from incomplete healing of a wound) that has stretched (gotten wider), a manifestation of tissue fragility.	http://purl.obolibrary.org/obo/HP_0031158		
OBO:HP_0031159	Thinning of Descemet membrane	biolink:OntologyClass	hp		A reduction in the thickness of Descemet's membrane.	http://purl.obolibrary.org/obo/HP_0031159		
OBO:HP_0031160	Myelokathexis	biolink:OntologyClass	hp		Impaired egress of mature neutrophils from bone marrow causing neutropenia.	http://purl.obolibrary.org/obo/HP_0031160		
OBO:HP_0031161	Reduced brain glutamate level by MRS	biolink:OntologyClass	hp		An decrease in the level of glutamate (Glu) in the brain identified by magnetic resonance spectroscopy (MRS).	http://purl.obolibrary.org/obo/HP_0031161		
OBO:HP_0031162	Impaired oropharyngeal swallow response	biolink:OntologyClass	hp		Delay or absence of the swallow response, reflexes triggered by the contact the food bolus makes with the anterior faucial pillars.	http://purl.obolibrary.org/obo/HP_0031162		
OBO:HP_0031163	Low femoral bone density	biolink:OntologyClass	hp		Reduced bone mineral density of the femur.	http://purl.obolibrary.org/obo/HP_0031163		Low femur bone density
OBO:HP_0031164	Growth arrest lines	biolink:OntologyClass	hp		Growth arrest lines are alternating transverse rings of sclerosis at the metaphysis of a long bone.	http://purl.obolibrary.org/obo/HP_0031164		Growth resumption lines|Harris lines
OBO:HP_0031165	Multifocal seizures	biolink:OntologyClass	hp		Seizures that start from several different areas of the brain (i.e., with multiple ictal onset locations).	http://purl.obolibrary.org/obo/HP_0031165		Multifocal onset seizures
OBO:HP_0031166	Eyelid myokymia	biolink:OntologyClass	hp		Involuntary, fine, continuous, undulating contractions of the eyelid.	http://purl.obolibrary.org/obo/HP_0031166		Myokymia orbicularis|Orbicularis myokymia
OBO:HP_0031167	Triggered by ingestion of potassium-rich food	biolink:OntologyClass	hp		Applies to a sign or symptom that is provoked or brought about by eating or drinking foods rich in potassium.	http://purl.obolibrary.org/obo/HP_0031167		Triggered by ingestion of K-rich food|Potassium-rich food triggered symptoms
OBO:HP_0031169	Postterm pregnancy	biolink:OntologyClass	hp		A pregnancy that extends to 42 weeks of gestation or beyond.	http://purl.obolibrary.org/obo/HP_0031169		
OBO:HP_0031170	Female fetal virilization	biolink:OntologyClass	hp		Fetal masculinization of female external genitalia.	http://purl.obolibrary.org/obo/HP_0031170		Female foetal virilization
OBO:HP_0031171	Femoral spur	biolink:OntologyClass	hp		A bony projection (spur, osteophyte) originating from the femur, often in the medial femoral neck.	http://purl.obolibrary.org/obo/HP_0031171		Spurring of femur
OBO:HP_0031172	Sectoral retinitis pigmentosa	biolink:OntologyClass	hp		A variant of retinitis pigmentosa in which there is a regional distribution of the retinal degeneration.	http://purl.obolibrary.org/obo/HP_0031172		
OBO:HP_0031173	Tibial spur	biolink:OntologyClass	hp		A bony projection (spur, osteophyte) originating from the tibia.	http://purl.obolibrary.org/obo/HP_0031173		Spurring of tibiae
OBO:HP_0031174	Double-layered patella	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031174		
OBO:HP_0031175	Absent cervical vertebra	biolink:OntologyClass	hp		A developmental defect characterized by agenesis of one or more vertebral bodies of the cervical spine.	http://purl.obolibrary.org/obo/HP_0031175		
OBO:HP_0031176	Absent thoracic vertebra	biolink:OntologyClass	hp		A developmental defect characterized by agenesis of one or more vertebral bodies of the thoracic spine.	http://purl.obolibrary.org/obo/HP_0031176		
OBO:HP_0031177	Finger flexor weakness	biolink:OntologyClass	hp		Reduced ability to flex (bend) the fingers. This can manifest as incomplete closure of the hand due to weakness in finger flexion.	http://purl.obolibrary.org/obo/HP_0031177		
OBO:HP_0031178	Fixed head retroflexion	biolink:OntologyClass	hp		Head is bent in the posterior direction in a permanent fashion.	http://purl.obolibrary.org/obo/HP_0031178		
OBO:HP_0031179	Nuchal rigidity	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031179		Meningism
OBO:HP_0031180	Erythema migrans	biolink:OntologyClass	hp		An expanding erythematous (red) skin lesion, usually round or oval, by definition at least 5 cm in size (in largest diameter).	http://purl.obolibrary.org/obo/HP_0031180		Erythema chronicum migrans
OBO:HP_0031181	Necrolytic migratory erythema	biolink:OntologyClass	hp		Acral or periorificial lesions that evolve in recurrent crops, with an annular and migratory distribution.	http://purl.obolibrary.org/obo/HP_0031181		
OBO:HP_0031185	Increased NT-proBNP level	biolink:OntologyClass	hp		An elevated level of circulating N-terminal part of the prohormone of B-type natriuretic peptide (BNP).	http://purl.obolibrary.org/obo/HP_0031185		
OBO:HP_0031186	Abnormal circulating deoxycorticosterone level	biolink:OntologyClass	hp		An abnormality of the concentration of deoxycorticosterone in the blood. Deoxycorticosterone comprises 11-deoxycorticosterone and 21-deoxycorticosterone.	http://purl.obolibrary.org/obo/HP_0031186		
OBO:HP_0031187	Abnormality of circulating pregnenolone level	biolink:OntologyClass	hp		An abnormality of the concentration of pregnenolone in the blood.	http://purl.obolibrary.org/obo/HP_0031187		
OBO:HP_0031188	Genital edema	biolink:OntologyClass	hp		A buildup of fluid that causes swelling in the soft tissues of the genital area.	http://purl.obolibrary.org/obo/HP_0031188		Genital oedema
OBO:HP_0031189	Wrist drop	biolink:OntologyClass	hp		A condition in which the affected individual cannot extend the wrist, which hangs flaccidly.	http://purl.obolibrary.org/obo/HP_0031189		
OBO:HP_0031190	Superficial dermal perivascular inflammatory infiltrate	biolink:OntologyClass	hp		Numerous lymphocytes surrounding blood vessels in the superfical part of the dermis.	http://purl.obolibrary.org/obo/HP_0031190		Superficial perivascular inflammatory infiltrate
OBO:HP_0031191	Deep dermal perivascular inflammatory infiltrate	biolink:OntologyClass	hp		Numerous lymphocytes surrounding blood vessels in the deep part of the dermis.	http://purl.obolibrary.org/obo/HP_0031191		Deep perivascular inflammatory infiltrate
OBO:HP_0031192	Abnormal morphology of left ventricular trabeculae	biolink:OntologyClass	hp		Any structural anomaly of the muscular columns which project from the inner surface of the left ventricle of the heart (cardiac trabeculae, trabeculae carneae).	http://purl.obolibrary.org/obo/HP_0031192		
OBO:HP_0031193	Abnormal morphology of right ventricular trabeculae	biolink:OntologyClass	hp		Any structural anomaly of the muscular columns which project from the inner surface of the right ventricle of the heart (cardiac trabeculae, trabeculae carneae).	http://purl.obolibrary.org/obo/HP_0031193		
OBO:HP_0031194	Increased density of left ventricular trabeculae	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0031194		
OBO:HP_0031195	Apical hypertrabeculation of the left ventricle	biolink:OntologyClass	hp		An increased number and density of the trabeculae in the apex (tip) of the left ventricle.	http://purl.obolibrary.org/obo/HP_0031195		
OBO:HP_0031196	Thin myocardium compact layer	biolink:OntologyClass	hp		Reduced thickness of the outer, dense layer of the myocardium.	http://purl.obolibrary.org/obo/HP_0031196		
OBO:HP_0031197	Cellular urinary casts	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0031197		Cellular casts
OBO:HP_0031198	Renal tubular epithelial cell casts	biolink:OntologyClass	hp		A type of cellular urinary cast composed of renal tubular epithelial cells.	http://purl.obolibrary.org/obo/HP_0031198		
OBO:HP_0031199	Acellular urinary casts	biolink:OntologyClass	hp		A type of urinary cast composed of a proteinaceous matrix without a substantial number of cells.	http://purl.obolibrary.org/obo/HP_0031199		Acellular casts
OBO:HP_0031200	Hyaline casts	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031200		
OBO:HP_0031201	Granular casts	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031201		
OBO:HP_0031202	Waxy casts	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031202		
OBO:HP_0031203	Fatty casts	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031203		
OBO:HP_0031204	Bacterial cell casts	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031204		
OBO:HP_0031205	Reduced lysosomal acid lipase activity	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031205		Reduced leukocyte acid lipase activity
OBO:HP_0031206	Striatal T2 hyperintensity	biolink:OntologyClass	hp		Abnormally bright T2 signal from the striatum on brain magnetic resonance imaging.	http://purl.obolibrary.org/obo/HP_0031206		
OBO:HP_0031207	Hepatic hemangioma	biolink:OntologyClass	hp		A congenital vascular malformation in the liver composed of masses of blood vessels that are atypical or irregular in arrangement and size.	http://purl.obolibrary.org/obo/HP_0031207		Hemangioma of the liver|Liver hemangioma
OBO:HP_0031208	Increased pituitary glycoprotein hormone alpha subunit level	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031208		Increased pituitary glycoprotein alpha subunit level|Increased pituitary glycoprotein polypeptide alpha subunit level
OBO:HP_0031209	Decreased circulating lipoprotein lipase concentration	biolink:OntologyClass	hp		Reduction in the level of lipoprotein lipase in the blood.	http://purl.obolibrary.org/obo/HP_0031209		Decreased lipoprotein lipase level
OBO:HP_0031210	Abnormal circulating hyaluronic acid concentration	biolink:OntologyClass	hp		A deviation from the normal concentration of hyaluronic acid in the blood.	http://purl.obolibrary.org/obo/HP_0031210		
OBO:HP_0031211	Elevated cholesterol ester level	biolink:OntologyClass	hp		An elevated concentration of circulating cholesterol esters, which are fatty acid esters of cholesterol and make up about two-thirds of total plasma cholesterol.	http://purl.obolibrary.org/obo/HP_0031211		Elevated cholesteryl ester level|Increased cholesterol esters|Increased cholesteryl esters
OBO:HP_0031212	Abnormal circulating progesterone level	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0031212		
OBO:HP_0031213	Elevated circulating 17-hydroxyprogesterone	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031213		Elevated circulating 17-OHP
OBO:HP_0031214	Decreased circulating dehydroepiandrosterone level	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0031214		
OBO:HP_0031215	Decreased circulating dehydroepiandrosterone-sulfate level	biolink:OntologyClass	hp		A reduced concentration of dehydroepiandrosterone-sulfate in the blood.	http://purl.obolibrary.org/obo/HP_0031215		
OBO:HP_0031216	Increased circulating progesterone	biolink:OntologyClass	hp		An elevated concentration of progesterone in the blood.	http://purl.obolibrary.org/obo/HP_0031216		
OBO:HP_0031217	Hot flashes	biolink:OntologyClass	hp		Sudden feelings of warmth that are generally most pronounced over the face, neck and chest.	http://purl.obolibrary.org/obo/HP_0031217		
OBO:HP_0031218	Inappropriate antidiuretic hormone secretion	biolink:OntologyClass	hp		A state of increased circulating antidiuretic hormone despite hyponatremia and hypo-osmolality with normal or increased plasma volume.	http://purl.obolibrary.org/obo/HP_0031218		Inappropriate ADH secretion|SIADH|Syndrome of inappropriate antidiuretic hormone secretion
OBO:HP_0031219	Reduced radioactive iodine uptake	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031219		
OBO:HP_0031220	Increased radioactive iodine uptake	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031220		
OBO:HP_0031221	Abnormal radioactive iodine uptake test result	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031221		
OBO:HP_0031222	Increased circulating thyroxine-binding globulin level	biolink:OntologyClass	hp		An elevated concentration of thyroxine-binding globulin (TBG) in the blood.	http://purl.obolibrary.org/obo/HP_0031222		
OBO:HP_0031223	Focal pancreatic islet hyperplasia	biolink:OntologyClass	hp		Hyperplasia of the islets of Langerhans that affects only certain regions of the pancreas and not others.	http://purl.obolibrary.org/obo/HP_0031223		
OBO:HP_0031224	Diffuse pancreatic islet hyperplasia	biolink:OntologyClass	hp		Hyperplasia of the islets of Langerhans with a generalized distribution.	http://purl.obolibrary.org/obo/HP_0031224		
OBO:HP_0031225	Intrapulmonary shunt	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031225		Intrapulmonary shunting
OBO:HP_0031226	Perinephric fluid collection	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031226		
OBO:HP_0031227	Nasopharyngeal teratoma	biolink:OntologyClass	hp		A teratoma arising in the nasopharyngeal region.	http://purl.obolibrary.org/obo/HP_0031227		
OBO:HP_0031228	Abnormal incisura morphology	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031228		
OBO:HP_0031229	Increased incisura length	biolink:OntologyClass	hp		The length of the incisura from the upper to lower border is greater than that observed in the average population.	http://purl.obolibrary.org/obo/HP_0031229		
OBO:HP_0031230	Decreased incisura length	biolink:OntologyClass	hp		The length of the incisura from the upper to lower border is less than that observed in the average population.	http://purl.obolibrary.org/obo/HP_0031230		
OBO:HP_0031231	Narrow incisura width	biolink:OntologyClass	hp		Width of the incisura from the anterior to posterior border less than that observed in the average population.	http://purl.obolibrary.org/obo/HP_0031231		
OBO:HP_0031232	Increased incisura width	biolink:OntologyClass	hp		Breadth of the incisura from the anterior to posterior border greater than that observed in the average population.	http://purl.obolibrary.org/obo/HP_0031232		
OBO:HP_0031233	Horizontal inferior border of scapula	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0031233		Squaring of the inferior scapulae|Squaring of the scapula
OBO:HP_0031234	Neutrophilic infiltration of the skin	biolink:OntologyClass	hp		A predominantly neutrophilic infiltrate of the dermis and or epidermis (i.e., a large number of neutrophils inferred to have migrated into the skin).	http://purl.obolibrary.org/obo/HP_0031234		
OBO:HP_0031235	Predominantly epidermal neutrophilic infiltrate	biolink:OntologyClass	hp		Collection of neutrophils in the epidermis.	http://purl.obolibrary.org/obo/HP_0031235		
OBO:HP_0031236	Predominantly dermal neutrophilic infiltrate	biolink:OntologyClass	hp		Collection of neutrophils in the dermis.	http://purl.obolibrary.org/obo/HP_0031236		
OBO:HP_0031237	Internally nucleated skeletal muscle fibers	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0031237		Internally nucleated skeletal muscle fibres
OBO:HP_0031238	Necklace skeletal muscle fibers	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031238		Necklace skeletal muscle fibres
OBO:HP_0031239	Extrafoveal choroidal neovascularization	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031239		
OBO:HP_0031240	Juxtafoveal choroidal neovascularization	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031240		
OBO:HP_0031241	Subfoveal choroidal neovascularization	biolink:OntologyClass	hp		A type of choroidal neovascularization in which the area of neovascularization overlaps with the center of the fovea.	http://purl.obolibrary.org/obo/HP_0031241		
OBO:HP_0031242	Decreased circulating chylomicron concentration	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031242		Decreased circulating chylomicron levels|Hypochylomicronemia
OBO:HP_0031243	Decreased VLDL cholesterol concentration	biolink:OntologyClass	hp		A reduction in the amount of very-low-density lipoprotein cholesterol in the blood.	http://purl.obolibrary.org/obo/HP_0031243		Decreased circulating very-low-density lipoprotein levels
OBO:HP_0031244	Swollen lip	biolink:OntologyClass	hp		Enlargement of the lip typically due to fluid buildup or inflammation.	http://purl.obolibrary.org/obo/HP_0031244		Swelling of the lip
OBO:HP_0031245	Productive cough	biolink:OntologyClass	hp		A cough that produces phlegm or mucus.	http://purl.obolibrary.org/obo/HP_0031245		Wet cough
OBO:HP_0031246	Nonproductive cough	biolink:OntologyClass	hp		A cough that does not produce phlegm or mucus.	http://purl.obolibrary.org/obo/HP_0031246		Dry cough|Dry coughing
OBO:HP_0031247	Whooping cough	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031247		
OBO:HP_0031248	Palmar pruritus	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031248		Itchy palm
OBO:HP_0031249	Parageusia	biolink:OntologyClass	hp		A distortion of the sense of taste, often characterized by the sensation of a metallic taste.	http://purl.obolibrary.org/obo/HP_0031249		Metallic taste in mouth|Metallic taste|Dysgeusia
OBO:HP_0031250	Lip fissure	biolink:OntologyClass	hp		A severe crack in a lip. A lip fissure may be painful, may bleed and often is a recurring manifestation.	http://purl.obolibrary.org/obo/HP_0031250		
OBO:HP_0031251	Abnormal subclavian artery morphology	biolink:OntologyClass	hp		Any anomaly of a subclavian artery.	http://purl.obolibrary.org/obo/HP_0031251		
OBO:HP_0031252	Dilated left subclavian artery	biolink:OntologyClass	hp		Abnormally increased caliber of the left subclavian artery.	http://purl.obolibrary.org/obo/HP_0031252		
OBO:HP_0031253	Anomalous origin of left subclavian artery	biolink:OntologyClass	hp		Origin of the left subclavian artery from an anomalous anatomical location.	http://purl.obolibrary.org/obo/HP_0031253		
OBO:HP_0031254	Thalamic arteriovenous malformation	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031254		
OBO:HP_0031255	Hypothalamic arteriovenous malformation	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031255		
OBO:HP_0031256	Optic nerve arteriovenous malformation	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031256		
OBO:HP_0031257	Arteriovenous malformation of the maxilla	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031257		
OBO:HP_0031258	Delirium	biolink:OntologyClass	hp		A state of sudden and severe confusion.	http://purl.obolibrary.org/obo/HP_0031258		
OBO:HP_0031259	Oophoritis	biolink:OntologyClass	hp		An inflammation of the ovary or ovaries.	http://purl.obolibrary.org/obo/HP_0031259		Inflammed ovary
OBO:HP_0031260	Triangular tibia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031260		
OBO:HP_0031261	Bladder polyp	biolink:OntologyClass	hp		An abnormal growth that projects from the mucous membrane of the urinary bladder.	http://purl.obolibrary.org/obo/HP_0031261		
OBO:HP_0031263	Abnormal renal corpuscle morphology	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031263		
OBO:HP_0031264	Abnormal Bowman capsule morphology	biolink:OntologyClass	hp		A structural anomaly of the double-walled capsule (Bowman capsule) that opens into a renal tubule.	http://purl.obolibrary.org/obo/HP_0031264		Abnormal morphology of Bowman capsule|Abnormal morphology of Bowman's capsule|Abnormal renal glomerular capsule morphology
OBO:HP_0031265	Abnormal glomerular visceral epithelial cell morphology	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031265		Abnormal podocyte morphology|Abnormal visceral epithelial cell morphology
OBO:HP_0031266	Podocyte foot process effacement	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031266		Loss of primary podocyte processes
OBO:HP_0031267	Abnormal CD69 upregulation upon TCR activation	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031267		
OBO:HP_0031268	Decreased CD69 upregulation upon TCR activation	biolink:OntologyClass	hp		Reduced or impaired upregulation of CD69 on T cells after activation via the T cell receptor (TCR).	http://purl.obolibrary.org/obo/HP_0031268		
OBO:HP_0031269	Abnormal CD25 upregulation upon TCR activation	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031269		
OBO:HP_0031270	Decreased CD25 upregulation upon TCR activation	biolink:OntologyClass	hp		Decreased or impaired upregulation of CD25 on T cells after activation via the T cell receptor (TCR).	http://purl.obolibrary.org/obo/HP_0031270		Poor CD25 upregulation upon TCR activation|Reduced IL2RA upregulation upon TCR activation
OBO:HP_0031271	Absent ankle pulse	biolink:OntologyClass	hp		The pulsation of the posterior tibial artery behind the internal malleolus, or of the dorsalis pedis artery, cannot be detected on physical examination.	http://purl.obolibrary.org/obo/HP_0031271		
OBO:HP_0031272	Pulmonary arterial atherosclerosis	biolink:OntologyClass	hp		Accumulation of lipids and inflammatory cells along the inner walls of the pulmonary artery.	http://purl.obolibrary.org/obo/HP_0031272		
OBO:HP_0031273	Shock	biolink:OntologyClass	hp		The state in which profound and widespread reduction of effective tissue perfusion leads first to reversible, and then if prolonged, to irreversible cellular injury.	http://purl.obolibrary.org/obo/HP_0031273		
OBO:HP_0031274	Hypovolemic shock	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031274		
OBO:HP_0031275	Distributive shock	biolink:OntologyClass	hp		A hyperdynamic process resulting from excessive vasodilatation. Impaired blood flow causes inadequate tissue perfusion, which can lead to end-organ damage	http://purl.obolibrary.org/obo/HP_0031275		
OBO:HP_0031276	Obstructive shock	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0031276		
OBO:HP_0031278	Abnormal thoracic duct morphology	biolink:OntologyClass	hp		Any structural anomaly of the thoracic duct.	http://purl.obolibrary.org/obo/HP_0031278		
OBO:HP_0031279	Abnormal response to gonadotropin-releasing hormone stimulation test	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0031279		Abnormal response to GnRH stimulation test
OBO:HP_0031280	Increased LH response to gonadotropin-releasing hormone stimulation test	biolink:OntologyClass	hp		An abnormally high amount of luteinizing hormone (LH) is released upon gonadotropin-releasing hormone stimulation test.	http://purl.obolibrary.org/obo/HP_0031280		
OBO:HP_0031281	Sialadenitis	biolink:OntologyClass	hp		Inflammation of a salivary gland.	http://purl.obolibrary.org/obo/HP_0031281		
OBO:HP_0031282	Malalignment of the great toenail	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031282		
OBO:HP_0031283	Tufted hairs	biolink:OntologyClass	hp		The presence of tufts of 8-15 hairs that appear to emerge from a single follicular orifice.	http://purl.obolibrary.org/obo/HP_0031283		
OBO:HP_0031284	Flushing	biolink:OntologyClass	hp		Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin.	http://purl.obolibrary.org/obo/HP_0031284		
OBO:HP_0031285	Abnormal perifollicular morphology	biolink:OntologyClass	hp		Any structural anomaly in the areas surrounding the hair follicles.	http://purl.obolibrary.org/obo/HP_0031285		
OBO:HP_0031286	Perifollicular erythema	biolink:OntologyClass	hp		Redness surrounding the hair follicles.	http://purl.obolibrary.org/obo/HP_0031286		
OBO:HP_0031287	Seborrheic keratosis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031287		Senile wart|Basal cell papilloma|Seborrheic verruca
OBO:HP_0031288	Cobblestone-like hyperkeratosis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031288		
OBO:HP_0031289	White papule	biolink:OntologyClass	hp		A papule with white color.	http://purl.obolibrary.org/obo/HP_0031289		
OBO:HP_0031290	Tuberous xanthoma	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031290		
OBO:HP_0031291	Ichthyosis follicularis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031291		
OBO:HP_0031292	Cutaneous abscess	biolink:OntologyClass	hp		A circumscribed area of pus or necrotic debris in the skin.	http://purl.obolibrary.org/obo/HP_0031292		Skin abscess
OBO:HP_0031293	Digital pitting scar	biolink:OntologyClass	hp		Pinhole-sized concave depressions with hyperkeratosis in the skin of a finger or toe.	http://purl.obolibrary.org/obo/HP_0031293		
OBO:HP_0031294	Hypoplastic right atrium	biolink:OntologyClass	hp		Underdeveloped, small right heart atrium.	http://purl.obolibrary.org/obo/HP_0031294		
OBO:HP_0031295	Left atrial enlargement	biolink:OntologyClass	hp	Fyler:3011|Fyler:3020	Increase in size of the left atrium.	http://purl.obolibrary.org/obo/HP_0031295		Enlarged heart left atrium
OBO:HP_0031296	Atrial septal hypertrophy	biolink:OntologyClass	hp		An abnormal increase in the thickness of the atrial septum.	http://purl.obolibrary.org/obo/HP_0031296		
OBO:HP_0031297	Unroofed coronary sinus	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031297		
OBO:HP_0031298	Coronary sinus enlargement	biolink:OntologyClass	hp		Abnormal increase in size of the coronary sinus.	http://purl.obolibrary.org/obo/HP_0031298		Coronary sinus dilatation|Enlarged coronary sinus
OBO:HP_0031299	Elevated left atrial pressure	biolink:OntologyClass	hp		An abnormal increase in magnitude of the pressure in the left atrium.	http://purl.obolibrary.org/obo/HP_0031299		
OBO:HP_0031300	Abnormal circulating properdin level	biolink:OntologyClass	hp		A deviation from the normal concentration of properdin in the blood.	http://purl.obolibrary.org/obo/HP_0031300		
OBO:HP_0031301	Peripheral arterial calcification	biolink:OntologyClass	hp		An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall.	http://purl.obolibrary.org/obo/HP_0031301		Peripheral artery calcification
OBO:HP_0031302	Lower extremity peripheral arterial calcification	biolink:OntologyClass	hp		An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the leg.	http://purl.obolibrary.org/obo/HP_0031302		Lower extremity peripheral artery calcification
OBO:HP_0031303	Femoral arterial calcification	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031303		
OBO:HP_0031304	Iliac arterial calcification	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031304		
OBO:HP_0031305	Tibial arterial calcification	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031305		
OBO:HP_0031306	Intracranial arterial calcification	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0031306		
OBO:HP_0031307	Internal carotid artery calcification	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031307		
OBO:HP_0031308	Vertebral artery calcification	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031308		
OBO:HP_0031309	Cerebral artery calcification	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031309		
OBO:HP_0031310	Basilar artery calcification	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031310		
OBO:HP_0031311	Middle cerebral artery calcification	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031311		
OBO:HP_0031313	Abdominal aortic calcification	biolink:OntologyClass	hp		An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in abdominal aorta.	http://purl.obolibrary.org/obo/HP_0031313		
OBO:HP_0031314	Carotid artery calcification	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031314		
OBO:HP_0031315	External carotid artery calcification	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031315		
OBO:HP_0031316	Abnormal ventricular myocardium morphology	biolink:OntologyClass	hp		A structural anomaly of the muscle layer of the heart wall of a cardiac ventricle.	http://purl.obolibrary.org/obo/HP_0031316		
OBO:HP_0031317	Fatty replacement of ventricular myocardial tissue	biolink:OntologyClass	hp		Presence of an increased amount of fat tissue within a cardiac ventricle with corresponding reduction of muscle tissue.	http://purl.obolibrary.org/obo/HP_0031317		Fatty infiltration of cardiac ventricle|Intramyocardial fat infiltration
OBO:HP_0031318	Myofiber disarray	biolink:OntologyClass	hp		A nonparallel arrangement of cardiac myocytes.	http://purl.obolibrary.org/obo/HP_0031318		Myocardial fiber disarray
OBO:HP_0031319	Cardiomyocyte hypertrophy	biolink:OntologyClass	hp		An abnormal increase in the volume of cardiac myocytes.	http://purl.obolibrary.org/obo/HP_0031319		Myocyte cellular hypertrophy
OBO:HP_0031320	Cardiomyocyte mitochondrial proliferation	biolink:OntologyClass	hp		An abnormal increase in the number of mitochondria per cardiac myocyte.	http://purl.obolibrary.org/obo/HP_0031320		
OBO:HP_0031321	Myocardial immune cell infiltration	biolink:OntologyClass	hp		An increase in the number of immune cells in myocardial tissue (which can be assumed to have migrated into the myocardium).	http://purl.obolibrary.org/obo/HP_0031321		
OBO:HP_0031322	Myocardial lymphocytic infiltration	biolink:OntologyClass	hp		An increase in the number of lymphocytes in myocardial tissue.	http://purl.obolibrary.org/obo/HP_0031322		
OBO:HP_0031323	Myocardial eosinophilic infiltration	biolink:OntologyClass	hp		An increase in the number of eosinophils in myocardial tissue.	http://purl.obolibrary.org/obo/HP_0031323		
OBO:HP_0031324	Myocardial multinucleated giant cells	biolink:OntologyClass	hp		The presence of extremely large cells with multiple nuclei. The so-called giant cells are thought to be of macrophage origin.	http://purl.obolibrary.org/obo/HP_0031324		
OBO:HP_0031325	Myocardial granulomatous infiltrates	biolink:OntologyClass	hp		The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the myocardium.	http://purl.obolibrary.org/obo/HP_0031325		
OBO:HP_0031326	Monoclonal light chain cardiac amyloidosis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031326		
OBO:HP_0031327	Transthyretin cardiac amyloidosis	biolink:OntologyClass	hp		A type of cardiac amyloidosis related to deposition of transthyretin (TTR), which is identified by immunohistochemical staining.	http://purl.obolibrary.org/obo/HP_0031327		TTR cardiac amyloidosis
OBO:HP_0031328	Perivascular cardiac fibrosis	biolink:OntologyClass	hp		A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in perivascular spaces.	http://purl.obolibrary.org/obo/HP_0031328		
OBO:HP_0031329	Interstitial cardiac fibrosis	biolink:OntologyClass	hp		A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in interstitial spaces.	http://purl.obolibrary.org/obo/HP_0031329		
OBO:HP_0031330	Perivascular myocardial immune cell infiltration	biolink:OntologyClass	hp		An increase in the number of immune cells in myocardial tissue concentrated in the spaces surrounding blood vessels.	http://purl.obolibrary.org/obo/HP_0031330		
OBO:HP_0031331	Abnormal cardiomyocyte morphology	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031331		Abnormal cardiac muscle cell morphology
OBO:HP_0031332	Cardiomyocyte degeneration	biolink:OntologyClass	hp		Deterioration of cardiomyocyte characterized by abnormal features such as loss of myofilaments, occurrence of cellular sequestration, decreased mitochondrial sizes and cellular debris.	http://purl.obolibrary.org/obo/HP_0031332		
OBO:HP_0031333	Myocardial sarcomeric disarray	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031333		Myocardial sarcomere disarray
OBO:HP_0031334	Cardiomyocyte inclusion bodies	biolink:OntologyClass	hp		Nuclear or cytoplasmic aggregates of stainable substances within cardiomyocytes.	http://purl.obolibrary.org/obo/HP_0031334		
OBO:HP_0031335	Abnormal cardiomyocyte mitochondrial morphology	biolink:OntologyClass	hp		An anomaly of the structure of mitochondria within cardiomyocytes.	http://purl.obolibrary.org/obo/HP_0031335		
OBO:HP_0031336	Intranuclear cardiomyocyte mitochondria	biolink:OntologyClass	hp		Abnormal localization of mitochondria within the nuclei of cardiomyocytes.	http://purl.obolibrary.org/obo/HP_0031336		
OBO:HP_0031337	Abnormal cardiomyocyte connexin43 staining	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031337		
OBO:HP_0031338	Abnormal cardiomyocyte plakoglobin staining	biolink:OntologyClass	hp		Anomalous staining of plakoglobin in cardiomyocytes. Plakoglobin is a component of desmosomes in cardiomyocytes.	http://purl.obolibrary.org/obo/HP_0031338		
OBO:HP_0031339	Abnormal cadiomyocyte dystrophin staining	biolink:OntologyClass	hp		Anomalous staining of dystrophin in cardiomyocytes.	http://purl.obolibrary.org/obo/HP_0031339		
OBO:HP_0031340	Abnormal lysosomal morphology	biolink:OntologyClass	hp		A structural anomaly of lysosomes, membrane-enclosed organelles that contain an array of enzymes capable of catabolizing proteins, nucleic acids, carbohydrates, and lipids.	http://purl.obolibrary.org/obo/HP_0031340		
OBO:HP_0031341	Gastric arteriovenous malformation	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031341		
OBO:HP_0031342	Duodenal arteriovenous malformation	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031342		
OBO:HP_0031343	Jejunal arteriovenous malformation	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031343		
OBO:HP_0031344	Pelvic arteriovenous malformation	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031344		
OBO:HP_0031345	Colonic arteriovenous malformation	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031345		
OBO:HP_0031346	Rectal arteriovenous malformation	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031346		
OBO:HP_0031347	Uterine arteriovenous malformation	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031347		
OBO:HP_0031348	Dextrotransposition of the great arteries	biolink:OntologyClass	hp	Fyler:0700|Fyler:700	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.	http://purl.obolibrary.org/obo/HP_0031348		D-TGA|D-loop transposition of the great arteries
OBO:HP_0031349	Levotransposition of the great arteries	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031349		L-TGA
OBO:HP_0031350	Cardiac sarcoma	biolink:OntologyClass	hp		A malignant soft tissue neoplasm that arises from the heart.	http://purl.obolibrary.org/obo/HP_0031350		
OBO:HP_0031351	Calcified amorphous tumor of the heart	biolink:OntologyClass	hp		A non-neoplastic cardiac tumor characterized by calcification and eosinophilic amorphous material in the background of dense collagenous fibrous tissue.	http://purl.obolibrary.org/obo/HP_0031351		Calcified amorphous tumour of the heart
OBO:HP_0031352	Chest tightness	biolink:OntologyClass	hp		An unpleasant sensation of tightness or pressure in the chest.	http://purl.obolibrary.org/obo/HP_0031352		Tightness in chest
OBO:HP_0031353	Otitis media with effusion	biolink:OntologyClass	hp		Otitis media characterized by thick or sticky fluid behind the tympanic membrane.	http://purl.obolibrary.org/obo/HP_0031353		Fluid behind eardrum
OBO:HP_0031354	Sleep onset Insomnia	biolink:OntologyClass	hp		Difficulty initiating sleep, that is, increased sleep onset latency.	http://purl.obolibrary.org/obo/HP_0031354		
OBO:HP_0031355	Maintenance insomnia	biolink:OntologyClass	hp		Abnormal difficulty in staying asleep. Affected individuals tend to wake up at night and have difficulty returning to sleep.	http://purl.obolibrary.org/obo/HP_0031355		
OBO:HP_0031356	Terminal insomnia	biolink:OntologyClass	hp		A type of insomnia characterized by waking up (too) early in the morning.	http://purl.obolibrary.org/obo/HP_0031356		Late insomnia
OBO:HP_0031357	Glomeruloid hemangioma	biolink:OntologyClass	hp		A histologically distinctive, cutaneous, benign vascular tumor that is characterized by a solitary or multiple blue-red papules and histologically resembles renal glomeruli.	http://purl.obolibrary.org/obo/HP_0031357		
OBO:HP_0031358	Vegetative state	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0031358		
OBO:HP_0031359	Cutaneous sclerotic plaque	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0031359		
OBO:HP_0031360	Yellow skin plaque	biolink:OntologyClass	hp		A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter and that has a yellow color.	http://purl.obolibrary.org/obo/HP_0031360		
OBO:HP_0031361	Zebra bodies	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031361		
OBO:HP_0031362	Sex-limited autosomal recessive inheritance	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0031362		
OBO:HP_0031363	Palpable purpura	biolink:OntologyClass	hp		A type of purpura in which the lesions are raised (and can therefore be appreciated upon palpation).	http://purl.obolibrary.org/obo/HP_0031363		
OBO:HP_0031364	Ecchymosis	biolink:OntologyClass	hp		A purpuric lesion that is larger than 1 cm in diameter.	http://purl.obolibrary.org/obo/HP_0031364		Ecchymoses
OBO:HP_0031365	Macular purpura	biolink:OntologyClass	hp		Purpura that is flat (non-palpable, not raised).	http://purl.obolibrary.org/obo/HP_0031365		Flat purpura
OBO:HP_0031366	Palate neoplasm	biolink:OntologyClass	hp		A neoplasm that affects the hard palate, soft palate, or uvula.	http://purl.obolibrary.org/obo/HP_0031366		
OBO:HP_0031367	Metaphyseal striations	biolink:OntologyClass	hp		Longitudinal densities on radiographs located in a metaphysis (the narrow region of a long bone between the epiphysis and the diaphysis).	http://purl.obolibrary.org/obo/HP_0031367		Striated metaphysis
OBO:HP_0031368	Intestinal perforation	biolink:OntologyClass	hp		A hole (perforation) in the wall of the intestine.	http://purl.obolibrary.org/obo/HP_0031368		
OBO:HP_0031369	Colon perforation	biolink:OntologyClass	hp		A hole (perforation) in the wall of the colon.	http://purl.obolibrary.org/obo/HP_0031369		Perforation of the colon
OBO:HP_0031370	Small intestinal perforation	biolink:OntologyClass	hp		A hole (perforation) in the wall of the small intestine.	http://purl.obolibrary.org/obo/HP_0031370		
OBO:HP_0031371	Rectal perforation	biolink:OntologyClass	hp		A hole (perforation) in the wall of the rectum.	http://purl.obolibrary.org/obo/HP_0031371		
OBO:HP_0031372	Cold paresis	biolink:OntologyClass	hp		Increased muscle weakness upon exposure to cold temperatures.	http://purl.obolibrary.org/obo/HP_0031372		
OBO:HP_0031373	Stiff tongue	biolink:OntologyClass	hp		Increased rigidity and reduced mobility of the tongue.	http://purl.obolibrary.org/obo/HP_0031373		Tongue stiffness
OBO:HP_0031374	Ankle weakness	biolink:OntologyClass	hp		Reduced strength of the muscles that lift or otherwise move the foot at the ankle.	http://purl.obolibrary.org/obo/HP_0031374		
OBO:HP_0031375	Refractory	biolink:OntologyClass	hp		Applies to a sign or symptom that is difficult to treat or cure.	http://purl.obolibrary.org/obo/HP_0031375		
OBO:HP_0031377	Abnormal cell proliferation	biolink:OntologyClass	hp		Any abnormality in the multiplication or reproduction of cells, which may result in the expansion of a cell population.	http://purl.obolibrary.org/obo/HP_0031377		
OBO:HP_0031378	Abnormal lymphocyte proliferation	biolink:OntologyClass	hp		Any abnormality in the multiplication or reproduction of lymphocytes, which results in the expansion of a cell population.	http://purl.obolibrary.org/obo/HP_0031378		
OBO:HP_0031379	Abnormal T cell proliferation	biolink:OntologyClass	hp		Any abnormality in the multiplication or reproduction of T cells, which results in the expansion of a cell population.	http://purl.obolibrary.org/obo/HP_0031379		
OBO:HP_0031380	Abnormal B cell proliferation	biolink:OntologyClass	hp		Any abnormality in the multiplication or reproduction of B cells, which results in the expansion of a cell population.	http://purl.obolibrary.org/obo/HP_0031380		
OBO:HP_0031381	Decreased lymphocyte proliferation in response to mitogen	biolink:OntologyClass	hp		A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with mitogens, such as phytohemagglutinin (PHA).	http://purl.obolibrary.org/obo/HP_0031381		Reduced lymphocyte proliferation to mitogen
OBO:HP_0031382	Decreased lymphocyte proliferation in response to anti-CD3	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031382		Defective lymphocyte proliferation to anti-CD3|Defective proliferation of lymphocytes following anti-CD3 stimulation
OBO:HP_0031383	Abnormal lymphocyte surface marker expression	biolink:OntologyClass	hp		Abnormal amount of a protein that is normally present on the cell surface of lymphocytes.	http://purl.obolibrary.org/obo/HP_0031383		
OBO:HP_0031384	Reduced T cell CD40 expression	biolink:OntologyClass	hp		A deficiency in the expression of the CD40 ligand on the surface of activated T-lymphocytes.	http://purl.obolibrary.org/obo/HP_0031384		
OBO:HP_0031385	Megakaryocyte nucleus hypolobulation	biolink:OntologyClass	hp		The presence of megakaryocytes in the bone marrow whose nuclei are less lobulated than expected for the size of the nucleus.	http://purl.obolibrary.org/obo/HP_0031385		
OBO:HP_0031386	Increased micromegakaryocyte count	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031386		
OBO:HP_0031387	Increased multinucleated megakaryocyte count	biolink:OntologyClass	hp		The presence of abnormally high numbers of multinucleated megakaryocytes in the bone marrow.	http://purl.obolibrary.org/obo/HP_0031387		
OBO:HP_0031388	Megakaryocyte nucleus hyperlobulation	biolink:OntologyClass	hp		The presence of megakaryocytes in the bone marrow whose nuclei are more lobulated than expected for the size of the nucleus.	http://purl.obolibrary.org/obo/HP_0031388		
OBO:HP_0031389	Abnormal MHC II surface expression	biolink:OntologyClass	hp		A deviation from the normal level of major histocompatibility complex class II molecules expressed at the cell surface.	http://purl.obolibrary.org/obo/HP_0031389		
OBO:HP_0031390	Reduced MHC II surface expression	biolink:OntologyClass	hp		A reduction from the normal level of major histocompatibility complex class II molecules expressed at the cell surface.	http://purl.obolibrary.org/obo/HP_0031390		
OBO:HP_0031391	Elevated MHC II surface expression	biolink:OntologyClass	hp		An increase above the normal level of major histocompatibility complex class II molecules expressed at the cell surface.	http://purl.obolibrary.org/obo/HP_0031391		
OBO:HP_0031392	Abnormal proportion of CD4-positive T cells	biolink:OntologyClass	hp		Any abnormality in the proportion of CD4-positive T cells relative to the total number of T cells.	http://purl.obolibrary.org/obo/HP_0031392		Abnormal proportion of CD4+ T cells|Abnormal proportion of CD4-positive, alpha-beta T cells
OBO:HP_0031393	Abnormal proportion of CD8-positive T cells	biolink:OntologyClass	hp		Any abnormality in the proportion of CD8 T cells relative to the total number of T cells.	http://purl.obolibrary.org/obo/HP_0031393		Abnormal proportion of CD8+ T cells|Abnormal proportion of CD8-positive, alpha-beta T cells
OBO:HP_0031394	Abnormal CD4:CD8 ratio	biolink:OntologyClass	hp		Any abnormality in the relative amount of CD4+ and CD8+ T lymphocytes.	http://purl.obolibrary.org/obo/HP_0031394		
OBO:HP_0031396	Abnormal proportion of naive T cells	biolink:OntologyClass	hp		Any abnormality in the proportion of naive T cells relative to the total number of T cells.	http://purl.obolibrary.org/obo/HP_0031396		Abnormal naive T cell proportion|Abnormal proportion of naive thymus-derived, alpha-beta T cells
OBO:HP_0031397	Decreased proportion of naive T cells	biolink:OntologyClass	hp		An abnormally decreased proportion of naive T cells relative to the total number of T cells.	http://purl.obolibrary.org/obo/HP_0031397		Decreased proportion of naive thymus-derived, alpha-beta T cells|Reduced proportion of naive T cells
OBO:HP_0031398	Increased proportion of naive T cells	biolink:OntologyClass	hp		An abnormally increased proportion of naive T cells relative to the total number of T cells.	http://purl.obolibrary.org/obo/HP_0031398		Elevated proportion of naive T cells|Increased proportion of naive thymus-derived, alpha-beta T cells
OBO:HP_0031399	Abnormal proportion of double-negative alpha-beta regulatory T cell	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031399		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
OBO:HP_0031401	Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031401		
OBO:HP_0031402	Reduced antigen-specific T cell proliferation	biolink:OntologyClass	hp		Impaired proliferation and expansion of a T cell population following activation by an antigenic stimulus.	http://purl.obolibrary.org/obo/HP_0031402		Impaired Ag-specific T cell proliferation|Impaired cellular adaptive immune response|Antigen-specific T cell proliferation defect|Impaired activated T cell proliferation
OBO:HP_0031403	Impaired pathogen-specific CD8 cytoxicity	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031403		Pathogen-specific CD8 cytoxicity defect
OBO:HP_0031404	Impaired antigen-specific response	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0031404		Impaired adaptive immune response
OBO:HP_0031405	Poroma	biolink:OntologyClass	hp		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].	http://purl.obolibrary.org/obo/HP_0031405		
OBO:HP_0031406	Abnormal cytokine signaling	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031406		Abnormal cytokine signalling
OBO:HP_0031407	Impaired cytokine signaling	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031407		Impaired cytokine signalling|Cytokine signaling defect
OBO:HP_0031408	Increased proportion of CD25+ mast cells	biolink:OntologyClass	hp		An increased proportion of mast cells are positive for the cell surface marker CD25 (also called interleukin-2 receptor alpha chain).	http://purl.obolibrary.org/obo/HP_0031408		
OBO:HP_0031409	Abnormal lymphocyte physiology	biolink:OntologyClass	hp		Any anomaly of lymphocyte function.	http://purl.obolibrary.org/obo/HP_0031409		
OBO:HP_0031410	Abnormal distribution of CD56 bright/dim natural killer cells	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031410		Abnormal distribution of CD56 bright/dim NK cells
OBO:HP_0031411	Abnormal chromosome morphology	biolink:OntologyClass	hp	Fyler:4013	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.	http://purl.obolibrary.org/obo/HP_0031411		
OBO:HP_0031412	Abnormal telomere morphology	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0031412		
OBO:HP_0031413	Short telomere length	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031413		
OBO:HP_0031414	High serum calcifediol	biolink:OntologyClass	hp		An increased concentration of calcifediol in the blood. Calcifediol is also known as 25-hydroxycholecalciferol or 25-Hydroxyvitamin D3.	http://purl.obolibrary.org/obo/HP_0031414		High serum 25-hydroxycholecalciferol|High serum calcidiol
OBO:HP_0031415	High serum calcitriol	biolink:OntologyClass	hp	UMLS:C1833331	An increased concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3.	http://purl.obolibrary.org/obo/HP_0031415		High serum 1,25-dihydroxycholecalciferol|High serum 1,25-dihydroxyvitamin D3|Increased serum 1,25-dihydroxyvitamin D3|Increased serum calcitriol
OBO:HP_0031416	Abnormal nasal mucus secretion	biolink:OntologyClass	hp		Any deviation from the normal quantity of secretion of nasal mucus, a thick viscous liquid produced by the mucous membranes of the nose.	http://purl.obolibrary.org/obo/HP_0031416		
OBO:HP_0031417	Rhinorrhea	biolink:OntologyClass	hp		Increased discharge of mucus from the nose.	http://purl.obolibrary.org/obo/HP_0031417		Nasal Discharge|Runny Nose
OBO:HP_0031418	Increased body mass index	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031418		Increased BMI
OBO:HP_0031419	Reduced sex -hormone binding protein level	biolink:OntologyClass	hp		A decreased concentration of sex-hormone binding protein in the circulation.	http://purl.obolibrary.org/obo/HP_0031419		Reduced androgen-binding protein level
OBO:HP_0031420	Small yellow foveal lesion with surrounding gray zone	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031420		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
OBO:HP_0031421	Small superior frontal cortex	biolink:OntologyClass	hp		Reduced size of the superior frontal portion of the cerebral cortex.	http://purl.obolibrary.org/obo/HP_0031421		
OBO:HP_0031422	Abnormal morphology of the cerebellar cortex	biolink:OntologyClass	hp		Any structural anomaly of the cortex of the cerebellum.	http://purl.obolibrary.org/obo/HP_0031422		
OBO:HP_0031423	Small cerebellar cortex	biolink:OntologyClass	hp		Reduced size of the cerebellar cortex.	http://purl.obolibrary.org/obo/HP_0031423		
OBO:HP_0031424	Abnormal circulating beta-C-terminal telopeptide level	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031424		Abnormal circulating beta-CTx level|Abnormal circulating beta-CrossLaps level
OBO:HP_0031425	Increased circulating beta-C-terminal telopeptide level	biolink:OntologyClass	hp		A abnormal elevation above the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation.	http://purl.obolibrary.org/obo/HP_0031425		Increased circulating beta-CTx level|Increased circulating beta-CrossLaps level
OBO:HP_0031426	Decreased circulating beta-C-terminal telopeptide level	biolink:OntologyClass	hp		A reduction from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation.	http://purl.obolibrary.org/obo/HP_0031426		Decreased circulating beta-CTx level|Decreased circulating beta-CrossLaps level
OBO:HP_0031427	Abnormal circulating osteocalcin level	biolink:OntologyClass	hp		A deviation from the normal concentration of osteocalcin in the blood circulation.	http://purl.obolibrary.org/obo/HP_0031427		
OBO:HP_0031428	Increased circulating osteocalcin level	biolink:OntologyClass	hp		An elevated level of osteocalcin in the blood.	http://purl.obolibrary.org/obo/HP_0031428		
OBO:HP_0031429	Decreased circulating osteocalcin level	biolink:OntologyClass	hp		A reduced level of osteocalcin in the blood.	http://purl.obolibrary.org/obo/HP_0031429		
OBO:HP_0031430	Oligoclonal T cell expansion	biolink:OntologyClass	hp		The presence of a population of T cells with a restricted T cell receptor (TCR) repertoire derived from a limited number of TCR clones.	http://purl.obolibrary.org/obo/HP_0031430		
OBO:HP_0031431	Persistent repetition of words	biolink:OntologyClass	hp		Repetitive use of words, phrases, intonation, or sounds of speech, often of the speech of others.	http://purl.obolibrary.org/obo/HP_0031431		
OBO:HP_0031432	Persistent repetition of actions	biolink:OntologyClass	hp		Repeated and inappropriate mechanical repetition of actions.	http://purl.obolibrary.org/obo/HP_0031432		
OBO:HP_0031433	Alexithymia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031433		Unaware of others' emotions
OBO:HP_0031434	Abnormal speech prosody	biolink:OntologyClass	hp		An anomaly of the expressive patterns of speech that involve intonation, stress pattern, loudness variations, pausing, articulatory force, and rhythm.	http://purl.obolibrary.org/obo/HP_0031434		
OBO:HP_0031435	Monotonic speech	biolink:OntologyClass	hp		A speech pattern characterized by abnormally reduced or lacking variability of the pitch of the voice.	http://purl.obolibrary.org/obo/HP_0031435		
OBO:HP_0031436	Increased pitch variability of speech	biolink:OntologyClass	hp		A speech pattern characterized by abnormally elevated variability of the pitch of the voice.	http://purl.obolibrary.org/obo/HP_0031436		
OBO:HP_0031437	Pregnancy exposure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031437		Exposure during pregnancy
OBO:HP_0031438	Abnormal sex hormone-binding globulin level	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031438		
OBO:HP_0031439	Abnormal angiostatin level	biolink:OntologyClass	hp		A deviation from the normal concentration in the circulation of angiostatin, an endogenous angiogenesis inhibitor, which blocks the growth of new blood vessels.	http://purl.obolibrary.org/obo/HP_0031439		
OBO:HP_0031440	obsolete Abnormal tricuspid valve morphology	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0031440		
OBO:HP_0031441	Abnormal tricuspid valve annulus morphology	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031441		
OBO:HP_0031442	Abnormal tricuspid chordae tendinae morphology	biolink:OntologyClass	hp		Any structural anomaly of the chordae tendinae of the tricuspid valve. The chordae tendineae connect the papillary muscles to the tricuspid valve.	http://purl.obolibrary.org/obo/HP_0031442		
OBO:HP_0031443	Abnormal tricuspid valve leaflet morphology	biolink:OntologyClass	hp		Any structural anomaly of the leaflets (also known as cusps) of the tricuspid valve.	http://purl.obolibrary.org/obo/HP_0031443		
OBO:HP_0031444	Dilatation of the tricuspid annulus	biolink:OntologyClass	hp		An increase in the diameter of the ring (annulus) of the tricuspid valve.	http://purl.obolibrary.org/obo/HP_0031444		
OBO:HP_0031445	Oral mucosa nodule	biolink:OntologyClass	hp		A palpable, solid lesion greater than 5mm in diameter. that is located in the mucosa of the mouth.	http://purl.obolibrary.org/obo/HP_0031445		
OBO:HP_0031446	Erosion of oral mucosa	biolink:OntologyClass	hp		Loss of the superficial layer of the oral mucosa usually resulting in a shallow or crusted lesion.	http://purl.obolibrary.org/obo/HP_0031446		
OBO:HP_0031447	Penile freckling	biolink:OntologyClass	hp		Multiple pigmented macules located on the skin of the penis.	http://purl.obolibrary.org/obo/HP_0031447		
OBO:HP_0031448	Herpetiform vesicles	biolink:OntologyClass	hp		Multiple vesicles distributed in multiple distinct groups consisting of multiple adjacent vesicles.	http://purl.obolibrary.org/obo/HP_0031448		
OBO:HP_0031449	Perineal hemangioma	biolink:OntologyClass	hp		Hemangioma, a benign tumor of the vascular endothelial cells, located in the perineal region, i.e., the region between the anus and the genitals.	http://purl.obolibrary.org/obo/HP_0031449		
OBO:HP_0031450	Polycyclic	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031450		
OBO:HP_0031451	Lower extremity subcutanous fat hypertrophy	biolink:OntologyClass	hp		An abnormal increase in the amount of subcutaneous fat in the legs.	http://purl.obolibrary.org/obo/HP_0031451		
OBO:HP_0031452	Lichenoid skin lesion	biolink:OntologyClass	hp		Mutliple skin lesions resembling those characteristic of the disease lichen planus. These lesions are violaceous (reddish-purple), shiny, isolated, flat-topped papules and plaques.	http://purl.obolibrary.org/obo/HP_0031452		
OBO:HP_0031453	Oral lichenoid lesion	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031453		
OBO:HP_0031454	Apocrine hidrocystoma	biolink:OntologyClass	hp		A cystic lesions that forms a benign tumor of an apocrine sweat gland.	http://purl.obolibrary.org/obo/HP_0031454		
OBO:HP_0031455	Presacral ganglioneuroma	biolink:OntologyClass	hp		A gangioleneuroma originating from sympathetic ganglion cells in the abdomen.	http://purl.obolibrary.org/obo/HP_0031455		
OBO:HP_0031456	Ectopic pregnancy	biolink:OntologyClass	hp		A pregnancy in which the fertilized egg inserts in a location outside of the main cavity of the uterus (usually in the Fallopian tube).	http://purl.obolibrary.org/obo/HP_0031456		
OBO:HP_0031457	Pulmonary opacity	biolink:OntologyClass	hp		Any lesion observed on an imaging study of the lung that is associated with increased density (usually showing as increased whiteness in the image).	http://purl.obolibrary.org/obo/HP_0031457		
OBO:HP_0031458	Adenoiditis	biolink:OntologyClass	hp		An inflammation of the adenoid tissue.	http://purl.obolibrary.org/obo/HP_0031458		
OBO:HP_0031459	Soft tissue neoplasm	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031459		
OBO:HP_0031460	Benign muscle neoplasm	biolink:OntologyClass	hp		A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue [NCIT:C4882].	http://purl.obolibrary.org/obo/HP_0031460		
OBO:HP_0031461	Intramuscular Myxoma	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031461		IM Myxoma
OBO:HP_0031462	Musculotendinous retraction	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031462		
OBO:HP_0031463	Esophageal squamous papilloma	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031463		
OBO:HP_0031464	Genital blistering	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031464		
OBO:HP_0031465	Abnormal vasa vasorum morphology	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031465		
OBO:HP_0031466	Impairment in personality functioning	biolink:OntologyClass	hp		A maladaptive personality trait characterized by moderate or greater impairment in personality (self /interpersonal) functioning.	http://purl.obolibrary.org/obo/HP_0031466		
OBO:HP_0031467	Negative affectivity	biolink:OntologyClass	hp		A stable tendency to experience negative emotions, i.e., a disposition to experience aversive emotional states.	http://purl.obolibrary.org/obo/HP_0031467		
OBO:HP_0031468	Separation insecurity	biolink:OntologyClass	hp		Fears of rejection by and/or separation from significant others, associated with fears of excessive dependency and complete loss of autonomy.	http://purl.obolibrary.org/obo/HP_0031468		
OBO:HP_0031469	Low self esteem	biolink:OntologyClass	hp		Negative opinion about oneself characterized by low self-confidence and exaggeratedly critical feelings about oneself.	http://purl.obolibrary.org/obo/HP_0031469		
OBO:HP_0031472	Risk taking	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031472		
OBO:HP_0031473	Hostility	biolink:OntologyClass	hp		Persistent or frequent angry feelings; anger or irritability in response to minor slights and insults.	http://purl.obolibrary.org/obo/HP_0031473		
OBO:HP_0031474	Pulmonary chondroma	biolink:OntologyClass	hp		A benign cartilaginous tumors of the lung.	http://purl.obolibrary.org/obo/HP_0031474		
OBO:HP_0031475	Status epilepticus without prominent motor symptoms	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031475		Nonconvulsive status epilepticus
OBO:HP_0031476	Abnormal buccal mucosa cell morphology	biolink:OntologyClass	hp		Any structural anomaly of the cells of the mucosa of the oral cavity in the region of the cheek (buccal mucosa cells).	http://purl.obolibrary.org/obo/HP_0031476		
OBO:HP_0031477	obsolete Abnormal mitral valve morphology	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0031477		
OBO:HP_0031478	Abnormal mitral valve annulus morphology	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031478		
OBO:HP_0031479	Dilatation of the mitral annulus	biolink:OntologyClass	hp		An increase in the diameter of the ring (annulus) of the mitral valve.	http://purl.obolibrary.org/obo/HP_0031479		
OBO:HP_0031480	Abnormal mitral valve leaflet morphology	biolink:OntologyClass	hp		Any structural anomaly of the leaflets (also known as cusps) of the mitral valve.	http://purl.obolibrary.org/obo/HP_0031480		
OBO:HP_0031481	Abnormal mitral valve physiology	biolink:OntologyClass	hp		Any functional anomaly of the mitral valve.	http://purl.obolibrary.org/obo/HP_0031481		
OBO:HP_0031482	Abnormal regional left ventricular contraction	biolink:OntologyClass	hp		A wall motion abnormality observed upon left ventricular contraction that affects a specific region of the left ventricle.	http://purl.obolibrary.org/obo/HP_0031482		
OBO:HP_0031483	Reduced contraction of the left ventricular apex	biolink:OntologyClass	hp		Reduced wall motion (contraction) of the apex of the left ventricle. This manifestation can be observed on echocardiography.	http://purl.obolibrary.org/obo/HP_0031483		
OBO:HP_0031484	Cold-induced hemolysis	biolink:OntologyClass	hp		A form of hemolytic anemia that can be triggered by cold temperatures.	http://purl.obolibrary.org/obo/HP_0031484		
OBO:HP_0031485	Subperiosteal bone formation	biolink:OntologyClass	hp		The formation of new bone along the cortex and underneath the periosteum of a bone.	http://purl.obolibrary.org/obo/HP_0031485		Periosteal reaction
OBO:HP_0031486	Vascular malformation of the lip	biolink:OntologyClass	hp		An anomaly of blood vessels located in the lip.	http://purl.obolibrary.org/obo/HP_0031486		
OBO:HP_0031487	Capillary malformation of the lip	biolink:OntologyClass	hp		A vascular malformation located in the lip that is characterized by ectatic papillary dermal capillaries and postcapillary venules in the upper reticular dermis.	http://purl.obolibrary.org/obo/HP_0031487		
OBO:HP_0031488	Arteriovenous malformation of the lip	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031488		Atypical connection between arteries and veins
OBO:HP_0031489	Venous malformation of the lip	biolink:OntologyClass	hp		A vascular malformation located in the lip that is related to abnormal vascular morphogenesis.	http://purl.obolibrary.org/obo/HP_0031489		
OBO:HP_0031490	Hemangioma of the lip	biolink:OntologyClass	hp		A vascular malformation located in the lip that is related to vascular endothelial cell hyperplasia.	http://purl.obolibrary.org/obo/HP_0031490		
OBO:HP_0031491	Continuous spike and waves during slow sleep	biolink:OntologyClass	hp		Diffuse, bilateral and recently also unilateral or focal localization spike-wave occurring in slow sleep or non-rapid eye movement sleep.	http://purl.obolibrary.org/obo/HP_0031491		CSWS
OBO:HP_0031492	Epithelial neoplasm	biolink:OntologyClass	hp		A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas [NCIT:C3709].	http://purl.obolibrary.org/obo/HP_0031492		
OBO:HP_0031493	Glandular cell neoplasm	biolink:OntologyClass	hp		A tumor that arises from a gland cell.	http://purl.obolibrary.org/obo/HP_0031493		
OBO:HP_0031494	Ovarian mucinous tumor	biolink:OntologyClass	hp		Ovarian mucinous neoplasms consist of borderline tumors (tumors of low malignant potential, or LMP tumors), intraepithelial (non-invasive) carcinoma, and invasive carcinoma.	http://purl.obolibrary.org/obo/HP_0031494		Ovarian mucinous tumour|Mucinous neoplasm of the ovary
OBO:HP_0031495	Mucinous neoplasm	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0031495		
OBO:HP_0031496	Mucinous cystic neoplasm of the pancreas	biolink:OntologyClass	hp		Mucin-producing and septated cyst-forming epithelial neoplasia of the pancreas with a distinctive ovarian-type stroma.	http://purl.obolibrary.org/obo/HP_0031496		
OBO:HP_0031497	Mucinous colorectal carcinoma	biolink:OntologyClass	hp		A subtype of colorectal carcinoma with mucin lakes.	http://purl.obolibrary.org/obo/HP_0031497		
OBO:HP_0031498	Mucinous gastric carcinoma	biolink:OntologyClass	hp		A poorly differentiated type of gastric carcinoma with a substantial amount of extracellular mucus (over 50% of tumor volume) within the tumor.	http://purl.obolibrary.org/obo/HP_0031498		
OBO:HP_0031499	Appendiceal mucinous neoplasm	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031499		
OBO:HP_0031500	Abdominal mass	biolink:OntologyClass	hp		An abnormal enlargement or swelling in the abdomen.	http://purl.obolibrary.org/obo/HP_0031500		
OBO:HP_0031501	Pelvic mass	biolink:OntologyClass	hp		An abnormal enlargement or swelling in the pelvic region.	http://purl.obolibrary.org/obo/HP_0031501		
OBO:HP_0031502	Trophoblastic tumor	biolink:OntologyClass	hp		A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells [NCIT:C3422].	http://purl.obolibrary.org/obo/HP_0031502		Trophoblastic tumour
OBO:HP_0031503	Night gasping	biolink:OntologyClass	hp		Waking up at night gasping for breath.	http://purl.obolibrary.org/obo/HP_0031503		
OBO:HP_0031504	Foamy urine	biolink:OntologyClass	hp		Urine has an increased amount of frothy fine bubbles.	http://purl.obolibrary.org/obo/HP_0031504		Frothy urine
OBO:HP_0031505	Abnormal circulating T4 level	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0031505		Abnormal circulating thyroxine level
OBO:HP_0031506	Increased circulating T4 level	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0031506		Increased circulating thyroxine level
OBO:HP_0031507	Decreased circulating T4 level	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0031507		Reduced T4 plasma level|Decreased circulating thyroxine level
OBO:HP_0031508	Abnormal thyroid hormone level	biolink:OntologyClass	hp		Any deviation from the normal range of the hormones produced by the thyroid gland.	http://purl.obolibrary.org/obo/HP_0031508		
OBO:HP_0031509	Dry nipple	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0031509		Abnormally dry skin in the area of the nipple of the breast.
OBO:HP_0031510	Linear earlobe crease	biolink:OntologyClass	hp		A transverse linear fissure (crease) in the lobule of the ear.	http://purl.obolibrary.org/obo/HP_0031510		
OBO:HP_0031511	Diagonal earlobe crease	biolink:OntologyClass	hp		Diagonal earlobe creases run from the lower pole of the external meatus, diagonally backwards to the edge of the lobe at approximately 45 degrees.	http://purl.obolibrary.org/obo/HP_0031511		
OBO:HP_0031512	Abnormal cutaneous collagen fibril morphology	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0031512		
OBO:HP_0031513	Luse bodies	biolink:OntologyClass	hp		Fusiform collagen fibers with abnormally long spacing (exceeding 100 nm) between electron-dense bands.	http://purl.obolibrary.org/obo/HP_0031513		
OBO:HP_0031514	Increased proportion of exhausted T cells	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031514		
OBO:HP_0031515	Abnormal meiosis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031515		
OBO:HP_0031516	Oocyte arrest at metaphase I	biolink:OntologyClass	hp		Failure of oocytes to proceed through the stages of meiosis with stoppage at the first metaphase stage.	http://purl.obolibrary.org/obo/HP_0031516		Metaphase I oocyte meiotic arrest|Oocyte meiotic arrest at metaphase I
OBO:HP_0031517	Verruciform xanthoma	biolink:OntologyClass	hp		A papillary or cauliflower-like growth characterized by the presence of foamy histiocytes within the elongated dermal papillae forms.	http://purl.obolibrary.org/obo/HP_0031517		
OBO:HP_0031518	Absent posterior alpha rhythm	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031518		
OBO:HP_0031519	Cauliflower deformity of dermal collagen fibrils	biolink:OntologyClass	hp		An anomaly of collagen fibers of the skin that is said to resemble a cauliflower and can be appreciated by electron microscopy.	http://purl.obolibrary.org/obo/HP_0031519		
OBO:HP_0031520	Groin pain	biolink:OntologyClass	hp		An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the groin region.	http://purl.obolibrary.org/obo/HP_0031520		
OBO:HP_0031521	Vaginal clear cell adenocarcinoma	biolink:OntologyClass	hp		A type of adenocarcinoma originating in the vagina and characterized by large cells with moderate to abundant clear cytoplasm.	http://purl.obolibrary.org/obo/HP_0031521		Clear cell adenocarcinoma of the vagina
OBO:HP_0031522	Cervical clear cell adenocarcinoma	biolink:OntologyClass	hp		A type of adenocarcinoma originating in the cervix and characterized by large cells with moderate to abundant clear cytoplasm.	http://purl.obolibrary.org/obo/HP_0031522		Clear cell carcinoma of cervix
OBO:HP_0031523	Salivary gland oncocytoma	biolink:OntologyClass	hp		A benign epithelial neoplasm composed of layers of oncocytes (small round nucleus, micro-granular, eosinophilic cytoplasm with numerous tightly-packed mitochondria)	http://purl.obolibrary.org/obo/HP_0031523		Parotid oncocytoma
OBO:HP_0031524	Ampulla of Vater carcinoma	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031524		
OBO:HP_0031525	Keratoacanthoma	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031525		
OBO:HP_0031526	Subretinal fluid	biolink:OntologyClass	hp		Edema/fluid accumulating between the retinal pigment epithelium and Bruch's membrane.	http://purl.obolibrary.org/obo/HP_0031526		Sub-retinal fluid
OBO:HP_0031527	Intraretinal fluid	biolink:OntologyClass	hp		Edema/fluid accumulating within the retinal layers.	http://purl.obolibrary.org/obo/HP_0031527		Intra-retinal fluid
OBO:HP_0031528	Subretinal deposits	biolink:OntologyClass	hp		Deposits accumulating between the outer retina and the retinal pigment epithelium.	http://purl.obolibrary.org/obo/HP_0031528		
OBO:HP_0031529	Focal subretinal deposits	biolink:OntologyClass	hp		Deposits accumulating between the outer retina and the retinal pigment epithelium and that have a focal distribution.	http://purl.obolibrary.org/obo/HP_0031529		
OBO:HP_0031530	Multifocal subretinal deposits	biolink:OntologyClass	hp		Deposits accumulating between the outer retina and the retinal pigment epithelium and that are distributed with multiple foci.	http://purl.obolibrary.org/obo/HP_0031530		
OBO:HP_0031531	Sub-RPE deposits	biolink:OntologyClass	hp		Deposits accumulating between the retinal pigment epithelium and Bruch's membrane.	http://purl.obolibrary.org/obo/HP_0031531		
OBO:HP_0031532	Focal sub-RPE deposits	biolink:OntologyClass	hp		Deposits accumulating between the retinal pigment epithelium and Bruch's membrane and that are distributed in a single focus.	http://purl.obolibrary.org/obo/HP_0031532		
OBO:HP_0031533	Multifocal sub-RPE deposits	biolink:OntologyClass	hp		Deposits accumulating between the retinal pigment epithelium and Bruch's membrane and that are distributed in multiple foci.	http://purl.obolibrary.org/obo/HP_0031533		
OBO:HP_0031534	Passive dorsiflexion of the 5th finger more than 90 degrees	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031534		
OBO:HP_0031535	Increased theta frequency activity in EEG	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031535		
OBO:HP_0031536	Separate origin of the left anterior descending and left circumflex artery	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0031536		
OBO:HP_0031537	Anomalous origin of the left circumflex artery from the right coronary artery	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0031537		
OBO:HP_0031538	Abnormal dermoepidermal junction morphology	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031538		
OBO:HP_0031539	Linear IgA deposits along the epidermal basement membrane zone	biolink:OntologyClass	hp		Presence of IgA antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy.	http://purl.obolibrary.org/obo/HP_0031539		
OBO:HP_0031540	Linear IgG deposits along the epidermal basement membrane zone	biolink:OntologyClass	hp		Presence of IgG antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy.	http://purl.obolibrary.org/obo/HP_0031540		
OBO:HP_0031541	Linear C3 deposits along the epidermal basement membrane zone	biolink:OntologyClass	hp		Presence of complement C3 in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy.	http://purl.obolibrary.org/obo/HP_0031541		
OBO:HP_0031542	Myelin-like whorls in vacuolated fibers	biolink:OntologyClass	hp		Muscle fibers contain one or more vacuoles (membrane-bound cavity) associated with collections of membranes arranged in a whorl-like (spiral or circular) manner.	http://purl.obolibrary.org/obo/HP_0031542		Myelin-like whorls in vacuolated fibres
OBO:HP_0031544	Elevated circulating palmitoleylcarnitine concentration	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031544		Elevated circulating O-propionylcarnitine concentration|Elevated plasma palmitoleylcarnitine, C16:1|Elevated plasma propionylcarnitine, C3:0|Elevated propionylcarnitine level
OBO:HP_0031545	Abnormally low T cell receptor excision circle level	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031545		
OBO:HP_0031546	Cardiac conduction abnormality	biolink:OntologyClass	hp		Any anomaly of the progression of electrical impulses through the heart.	http://purl.obolibrary.org/obo/HP_0031546		Abnormality of cardiac conduction|Abnormality of cardiac conduction system|Cardiac conduction abnormalities|Cardiac conduction defects|Heart conduction disorder
OBO:HP_0031547	Abnormal QT interval	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0031547		
OBO:HP_0031548	Follicular infundibulum tumor	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031548		Follicular infundibulum tumour|Basal cell hamartoma with follicular differentiation
OBO:HP_0031549	Lymphocytoma cutis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031549		Skin pseudolymphoma|Spiegler-Fendt sarcoid
OBO:HP_0031550	Abnormal flow cytometry test result	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031550		
OBO:HP_0031551	Reduced cell surface marker level	biolink:OntologyClass	hp		Reduced level of a protein that is normally present on the cell surface as assessed by flow cytometry.	http://purl.obolibrary.org/obo/HP_0031551		
OBO:HP_0031552	Reduced fibroblast surface marker level	biolink:OntologyClass	hp		Reduced level of a protein that is normally present on the fibroblast surface as assessed by flow cytometry.	http://purl.obolibrary.org/obo/HP_0031552		
OBO:HP_0031553	Reduced granulocyte surface marker level	biolink:OntologyClass	hp		Reduced level of a protein that is normally present on the granulocyte surface as assessed by flow cytometry.	http://purl.obolibrary.org/obo/HP_0031553		
OBO:HP_0031554	Reduced granulocyte CD55 level	biolink:OntologyClass	hp		Reduced level of CD55 on the granulocyte surface as assessed by flow cytometry.	http://purl.obolibrary.org/obo/HP_0031554		
OBO:HP_0031555	Reduced granulocyte CD59 level	biolink:OntologyClass	hp		Reduced level of CD59 on the granulocyte surface as assessed by flow cytometry.	http://purl.obolibrary.org/obo/HP_0031555		
OBO:HP_0031556	Reduced granulocyte CD16 level	biolink:OntologyClass	hp		Reduced level of CD16 on the granulocyte surface as assessed by flow cytometry.	http://purl.obolibrary.org/obo/HP_0031556		
OBO:HP_0031557	Reduced fibroblast CD55 level	biolink:OntologyClass	hp		Reduced level of CD55 on the fibroblast surface as assessed by flow cytometry.	http://purl.obolibrary.org/obo/HP_0031557		
OBO:HP_0031558	Reduced fibroblast CD59 level	biolink:OntologyClass	hp		Reduced level of CD59 on the fibroblast surface as assessed by flow cytometry.	http://purl.obolibrary.org/obo/HP_0031558		
OBO:HP_0031559	Reduced fibroblast CD16 level	biolink:OntologyClass	hp		Reduced level of CD16 on the fibroblast surface as assessed by flow cytometry.	http://purl.obolibrary.org/obo/HP_0031559		
OBO:HP_0031560	Coronary cameral fistula	biolink:OntologyClass	hp	Fyler:2233	An abnormal communication between coronary artery and a cardiac chamber.	http://purl.obolibrary.org/obo/HP_0031560		
OBO:HP_0031561	Coronary cameral fistula to right ventricle	biolink:OntologyClass	hp		An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering the right ventricle.	http://purl.obolibrary.org/obo/HP_0031561		
OBO:HP_0031562	Balanced double aortic arch	biolink:OntologyClass	hp	Fyler:2780	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.	http://purl.obolibrary.org/obo/HP_0031562		
OBO:HP_0031563	Coronary arteriovenous fistula	biolink:OntologyClass	hp	Fyler:2240	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.	http://purl.obolibrary.org/obo/HP_0031563		
OBO:HP_0031564	Bronchial isomerism	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0031564		
OBO:HP_0031565	Abdominal situs ambiguus	biolink:OntologyClass	hp	Fyler:3817	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.	http://purl.obolibrary.org/obo/HP_0031565		
OBO:HP_0031566	Abnormal pulmonary valve cusp morphology	biolink:OntologyClass	hp	Fyler:1652	Any structural anomaly of the pulmonary valve leaflets.	http://purl.obolibrary.org/obo/HP_0031566		
OBO:HP_0031567	Abnormal aortic valve cusp morphology	biolink:OntologyClass	hp	Fyler:1480	Any structural anomaly of the aortic valve leaflets.	http://purl.obolibrary.org/obo/HP_0031567		
OBO:HP_0031568	Thickened aortic valve cusp	biolink:OntologyClass	hp	Fyler:1486	An abnormally increased thickness of a leaflet of the aortic valve.	http://purl.obolibrary.org/obo/HP_0031568		
OBO:HP_0031569	Absent aortic valve cusps	biolink:OntologyClass	hp	Fyler:1484	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.	http://purl.obolibrary.org/obo/HP_0031569		Absent aortic valve
OBO:HP_0031570	Tessier number 0 facial cleft	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031570		Tessier facial cleft number 0
OBO:HP_0031571	Paramedian facial cleft	biolink:OntologyClass	hp		A type of facial cleft located near to but not directly on the midline of the face.	http://purl.obolibrary.org/obo/HP_0031571		
OBO:HP_0031572	Tessier number 1 facial cleft	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031572		
OBO:HP_0031573	Tessier number 2 facial cleft	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031573		
OBO:HP_0031574	Orbital cleft	biolink:OntologyClass	hp		A facial cleft characterized by involvement of the orbit.	http://purl.obolibrary.org/obo/HP_0031574		
OBO:HP_0031575	Tessier number 3 facial cleft	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031575		
OBO:HP_0031576	Tessier number 4 facial cleft	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031576		
OBO:HP_0031577	Tessier number 5 facial cleft	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031577		
OBO:HP_0031578	Tessier number 6 facial cleft	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031578		Tessier facial cleft number 6
OBO:HP_0031579	Tessier number 7 facial cleft	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031579		Tessier cleft number 7|Tessier facial cleft number 7
OBO:HP_0031580	Tessier number 8 facial cleft	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031580		Tessier facial cleft number 8
OBO:HP_0031581	Tessier number 9 facial cleft	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031581		
OBO:HP_0031582	Tessier number 10 facial cleft	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031582		
OBO:HP_0031583	Tessier number 11 facial cleft	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031583		
OBO:HP_0031584	Tessier number 12 facial cleft	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031584		
OBO:HP_0031585	Tessier number 13 facial cleft	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031585		
OBO:HP_0031586	Tessier number 14 facial cleft	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031586		Tessier facial cleft number 14
OBO:HP_0031587	Tessier number 30 facial cleft	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031587		
OBO:HP_0031588	Unhappy demeanor	biolink:OntologyClass	hp		A conspicuously unhappy disposition characterized by negative assumptions, self-defeating talk, fear of failure, and negative ruminations about past events.	http://purl.obolibrary.org/obo/HP_0031588		Unhappy demeanour
OBO:HP_0031589	Suicidal ideation	biolink:OntologyClass	hp		Frequent thinking about or preoccupation with killing onself.	http://purl.obolibrary.org/obo/HP_0031589		
OBO:HP_0031590	Asthenopia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031590		Eye strain
OBO:HP_0031591	Enlarged Eustachian valve	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031591		Enlarged inferior vena cava valve|Giant Eustachian valve
OBO:HP_0031592	Situs inversus with levocardia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031592		
OBO:HP_0031593	Abnormal PR interval	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031593		
OBO:HP_0031594	PR segment depression	biolink:OntologyClass	hp		A reduction in voltage of the PR segment below baseline.	http://purl.obolibrary.org/obo/HP_0031594		PR interval depression|PTa depression
OBO:HP_0031595	Abnormal P wave	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031595		
OBO:HP_0031596	Abnormal PR segment	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031596		
OBO:HP_0031597	PR segment elevation	biolink:OntologyClass	hp		An increase in voltage of the PR segment above baseline.	http://purl.obolibrary.org/obo/HP_0031597		PR interval elevation|PTa elevation
OBO:HP_0031598	Notched P wave	biolink:OntologyClass	hp		V-shaped cut (notch) in the middle of the P wave.	http://purl.obolibrary.org/obo/HP_0031598		
OBO:HP_0031599	P mitrale	biolink:OntologyClass	hp		A broad (120 ms or longer in duration) and bifid P-wave in EKG lead II.	http://purl.obolibrary.org/obo/HP_0031599		
OBO:HP_0031600	P wave inversion	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031600		
OBO:HP_0031601	P pulmonale	biolink:OntologyClass	hp		The presence of tall, peaked P waves in EKG lead II.	http://purl.obolibrary.org/obo/HP_0031601		
OBO:HP_0031602	Abnormal mucociliary clearance	biolink:OntologyClass	hp		An anomaly in the system of mucociliary transport, which functions to transport the mucous layer lining the respiratory epithelium by ciliary  beating.	http://purl.obolibrary.org/obo/HP_0031602		Abnormal mucociliary transport
OBO:HP_0031603	Impaired nasal mucociliary clearance	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031603		Abnormal saccharine test
OBO:HP_0031604	Agenesis of the carotid canal	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031604		Bony carotid canal agenesis
OBO:HP_0031605	Abnormality of fundus pigmentation	biolink:OntologyClass	hp		Any anomaly of the pigmentation of the fundus, the posterior part of the eye including the retina and optic nerve.	http://purl.obolibrary.org/obo/HP_0031605		
OBO:HP_0031606	Retinal cotton wool spot	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031606		
OBO:HP_0031607	Pelvic organ prolapse	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031607		
OBO:HP_0031609	Geographic atrophy	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031609		
OBO:HP_0031610	Recurrent shoulder dislocation	biolink:OntologyClass	hp		Shoulder dislocation occurring repeated times.	http://purl.obolibrary.org/obo/HP_0031610		Multiple shoulder dislocation
OBO:HP_0031611	Sub-inner limiting membrane hemorrhage	biolink:OntologyClass	hp		A type of intraretinal hemorrhage that is located in the superficial retina between the inner limiting membrane and the retinal nerve fiber layer.	http://purl.obolibrary.org/obo/HP_0031611		Sub-ILM hemorrhage|Sub-ILM haemorrhage|Sub-inner limiting membrane haemorrhage
OBO:HP_0031613	Inferior chorioretinal coloboma	biolink:OntologyClass	hp		Absence of a region of the retina, retinal pigment epithelium, and choroid at the lower part of the fundus.	http://purl.obolibrary.org/obo/HP_0031613		
OBO:HP_0031614	Inferior retinal coloboma	biolink:OntologyClass	hp		A notch or cleft of the lower part of the retina.	http://purl.obolibrary.org/obo/HP_0031614		
OBO:HP_0031615	Hypopyon	biolink:OntologyClass	hp		Presence of pus (appears as a white fluid) producing a fluid level in the inferior part of the anterior chamber.	http://purl.obolibrary.org/obo/HP_0031615		
OBO:HP_0031616	Anterior chamber flare	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031616		
OBO:HP_0031618	Anterior chamber flare grade 1+	biolink:OntologyClass	hp		Faint anterior chamber flare.	http://purl.obolibrary.org/obo/HP_0031618		
OBO:HP_0031619	Anterior chamber flare grade 2+	biolink:OntologyClass	hp		Moderate anterior chamber flare (iris and lens details clear).	http://purl.obolibrary.org/obo/HP_0031619		
OBO:HP_0031620	Anterior chamber flare grade 3+	biolink:OntologyClass	hp		Marked anterior chamber flare (iris and lens details hazy).	http://purl.obolibrary.org/obo/HP_0031620		
OBO:HP_0031621	Anterior chamber flare grade 4+	biolink:OntologyClass	hp		Intense anterior chamber flare (fibrin/plastic aqueous).	http://purl.obolibrary.org/obo/HP_0031621		
OBO:HP_0031622	Brown anomaly	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031622		Brown syndrome
OBO:HP_0031623	Brow ptosis	biolink:OntologyClass	hp		Drooping of the upper eyebrow below the superior orbital rim.	http://purl.obolibrary.org/obo/HP_0031623		Drooping brow
OBO:HP_0031624	Moderate myopia	biolink:OntologyClass	hp		A moderate form of myopia with refractive error of between -3.00 and -6.00 diopters.	http://purl.obolibrary.org/obo/HP_0031624		
OBO:HP_0031625	Pseudoaneurysm	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0031625		A contained rupture of an artery with a disruption in all 3 layers of the arterial wall.
OBO:HP_0031626	Coronary ostial atresia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031626		Atresia of coronary ostium
OBO:HP_0031627	Globus pallidus calcification	biolink:OntologyClass	hp		Pathological deposition of calcium salts in the globus pallidus.	http://purl.obolibrary.org/obo/HP_0031627		
OBO:HP_0031628	Aborted sudden cardiac death	biolink:OntologyClass	hp		Cardiac arrest that would have led to rapid and unexpected death had an intervention not taken place to prevent it.	http://purl.obolibrary.org/obo/HP_0031628		Sudden cardiac arrest
OBO:HP_0031629	Impaired tandem gait	biolink:OntologyClass	hp		Reduced ability to walk in a straight line while placing the feet heel to toe.	http://purl.obolibrary.org/obo/HP_0031629		Clumsy tandem walking
OBO:HP_0031630	Abnormal subpleural morphology	biolink:OntologyClass	hp		Any structural anomaly located between the pleura and the chest wall.	http://purl.obolibrary.org/obo/HP_0031630		
OBO:HP_0031631	Subpleural honeycombing	biolink:OntologyClass	hp		So-called honeycombs (variably sized cysts in a background of densely scarred tissue) located in the subpleural space.	http://purl.obolibrary.org/obo/HP_0031631		
OBO:HP_0031632	Anomalous origin of the right subclavian artery from the descending aorta	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031632		
OBO:HP_0031633	Isolation of the left subclavian artery	biolink:OntologyClass	hp	Fyler:2732	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.	http://purl.obolibrary.org/obo/HP_0031633		
OBO:HP_0031634	Anomalous origin of the left common carotid artery from the main pulmonary artery	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031634		
OBO:HP_0031635	Anomalous origin of the left common carotid artery from the brachiocephalic artery	biolink:OntologyClass	hp		The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the brachiocephalic artery.	http://purl.obolibrary.org/obo/HP_0031635		Anomalous origin of the left common carotid artery from the brachiocephalic trunk
OBO:HP_0031636	Anomalous origin of the right common carotid artery from the aorta	biolink:OntologyClass	hp		The right common carotid artery normally originates from the brachiocephalic artery. This term refers to an origin of this artery directly from the aorta.	http://purl.obolibrary.org/obo/HP_0031636		
OBO:HP_0031637	Right coronary artery ostial atresia	biolink:OntologyClass	hp		Absence of the normal opening of the coronary ostium from which the right main coronary artery originates.	http://purl.obolibrary.org/obo/HP_0031637		
OBO:HP_0031638	Anomalous origin of the left anterior descending artery from the pulmonary artery	biolink:OntologyClass	hp		The left anterior descending artery (LAD) branches off from the pulmonary artery.	http://purl.obolibrary.org/obo/HP_0031638		
OBO:HP_0031639	Absent left main coronary artery	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031639		Absent LMCA
OBO:HP_0031640	Abnormal radial artery morphology	biolink:OntologyClass	hp		Any structural anomaly of the radial artery.	http://purl.obolibrary.org/obo/HP_0031640		
OBO:HP_0031643	Fusiform ascending tubular aorta aneurysm	biolink:OntologyClass	hp		An eccentric abnormal localized widening (dilatation) of the ascending tubular aorta that involves only a portion of the circumference of the vessel wall.	http://purl.obolibrary.org/obo/HP_0031643		
OBO:HP_0031644	Fusiform abdominal aortic aneurysm	biolink:OntologyClass	hp		A concentric abnormal localized widening (dilatation) of the abdominal aorta that involves the full circumference of the vessel wall	http://purl.obolibrary.org/obo/HP_0031644		
OBO:HP_0031645	Saccular abdominal aortic aneurysm	biolink:OntologyClass	hp		An eccentric abnormal localized widening (dilatation) of the abdominal aorta that involves only a portion of the circumference of the vessel wall.	http://purl.obolibrary.org/obo/HP_0031645		
OBO:HP_0031646	Fusiform aortic arch aneurysm	biolink:OntologyClass	hp		A concentric abnormal localized widening (dilatation) of the aortic arch that involves the full circumference of the vessel wall.	http://purl.obolibrary.org/obo/HP_0031646		
OBO:HP_0031647	Saccular aortic arch aneurysm	biolink:OntologyClass	hp		An eccentric abnormal localized widening (dilatation) of the aortic arch that involves only a portion of the circumference of the vessel wall.	http://purl.obolibrary.org/obo/HP_0031647		
OBO:HP_0031648	Penetrating aortic ulcer	biolink:OntologyClass	hp		A focal defect in the elastic lamina of the aortic wall that leads to localized medial disruption and potential rupture.	http://purl.obolibrary.org/obo/HP_0031648		
OBO:HP_0031649	Aortic rupture	biolink:OntologyClass	hp		Tearing of the aortic wall generally associated with profuse internal bleeding.	http://purl.obolibrary.org/obo/HP_0031649		
OBO:HP_0031650	Abnormal atrioventricular valve physiology	biolink:OntologyClass	hp		Any functional defect of the mitral or tricuspid valve.	http://purl.obolibrary.org/obo/HP_0031650		
OBO:HP_0031651	Abnormal tricuspid valve physiology	biolink:OntologyClass	hp		Any functional defect of the tricuspid valve.	http://purl.obolibrary.org/obo/HP_0031651		
OBO:HP_0031652	Abnormal aortic valve physiology	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0031652		
OBO:HP_0031653	Abnormal heart valve physiology	biolink:OntologyClass	hp		Any functional abnormality of a cardiac valve.	http://purl.obolibrary.org/obo/HP_0031653		
OBO:HP_0031654	Abnormal pulmonary valve physiology	biolink:OntologyClass	hp		Any functional anomaly of the pumonary valve.	http://purl.obolibrary.org/obo/HP_0031654		
OBO:HP_0031655	Quadricuspid aortic valve	biolink:OntologyClass	hp		The presence of an aortic valve with four instead of the normal three cusps (flaps).	http://purl.obolibrary.org/obo/HP_0031655		
OBO:HP_0031656	Systolic anterior motion of the mitral valve	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031656		
OBO:HP_0031657	Abnormal heart sound	biolink:OntologyClass	hp		Any abnormal noise generated by the beating heart.	http://purl.obolibrary.org/obo/HP_0031657		
OBO:HP_0031658	Third heart sound	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031658		S3|Ventricular gallop
OBO:HP_0031659	Fourth heart sound	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031659		S4|Atrial gallop|Presystolic gallop
OBO:HP_0031660	Loud first heart sound	biolink:OntologyClass	hp		Abnormally increased volume of the first heart sound.	http://purl.obolibrary.org/obo/HP_0031660		
OBO:HP_0031661	Abnormal second heart sound	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031661		
OBO:HP_0031662	Fixed splitting of the second heart sound	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031662		Fixed splitting of S2
OBO:HP_0031663	Paradoxical splitting of the second heart sound	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0031663		Paradoxical splitting of S2|Reversed splitting of S2|Reversed splitting of the second heart sound
OBO:HP_0031664	Systolic heart murmur	biolink:OntologyClass	hp		A heart murmur limited to systole, i.e., between the first and second heart sounds S1 and S2.	http://purl.obolibrary.org/obo/HP_0031664		
OBO:HP_0031665	Midsystolic murmur	biolink:OntologyClass	hp		A systolic murmur that begins after S1 and ends before S2, typically with a crescendo-decrescendo pattern.	http://purl.obolibrary.org/obo/HP_0031665		
OBO:HP_0031666	Late systolic murmur	biolink:OntologyClass	hp		A murmur that occurs in the latter phase of systole.	http://purl.obolibrary.org/obo/HP_0031666		
OBO:HP_0031667	Holosystolic murmur	biolink:OntologyClass	hp		A heart murmur that occurs during the entire systolic phase from S1 to S2.	http://purl.obolibrary.org/obo/HP_0031667		
OBO:HP_0031668	Diastolic heart murmur	biolink:OntologyClass	hp		A heart murmur that occurs during diastole, i.e., in the time between S2 and the subsequent S1.	http://purl.obolibrary.org/obo/HP_0031668		
OBO:HP_0031669	Middiastolic murmur	biolink:OntologyClass	hp		A murmur that occurs in the middle of the diastolic phase.	http://purl.obolibrary.org/obo/HP_0031669		
OBO:HP_0031670	Continuous heart murmur	biolink:OntologyClass	hp		A murmur that occurs in both systole and diastole.	http://purl.obolibrary.org/obo/HP_0031670		
OBO:HP_0031671	Typical atrial flutter	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031671		
OBO:HP_0031672	Reverse typical atrial flutter	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031672		
OBO:HP_0031673	Orthodromic atrioventricular reentrant tachycardia	biolink:OntologyClass	hp		A type of atrioventricular reentrant tachycardia (AVRT) where the atrioventricular node is used for anterograde conduction and the accessory pathway for retrograde conduction.	http://purl.obolibrary.org/obo/HP_0031673		Orthodromic AVRT
OBO:HP_0031674	Antidromic atrioventricular reentrant tachycardia	biolink:OntologyClass	hp		A type of atrioventricular reentrant tachycardia (AVRT) where the accessory pathway is used for anterograde conduction and the atrioventricular node for retrograde conduction.	http://purl.obolibrary.org/obo/HP_0031674		Antidromic AVRT
OBO:HP_0031675	Fascicular left ventricular tachycardia	biolink:OntologyClass	hp		A ventricular tachycardia (VT) characterized by right bundle branch block (RBBB) and left axis deviation (LAD) on electrocardiogram (ECG).	http://purl.obolibrary.org/obo/HP_0031675		
OBO:HP_0031676	Monomorphic ventricular tachycardia	biolink:OntologyClass	hp		A type of ventricular tachycardia that is characterized by uniform QRS complexes within each lead (i.e., each QRS is identical or nearly so).	http://purl.obolibrary.org/obo/HP_0031676		
OBO:HP_0031677	Polymorphic ventricular tachycardia	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0031677		
OBO:HP_0031678	Atherosclerotic lesion	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031678		
OBO:HP_0031679	Type I atherosclerotic lesion	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0031679		
OBO:HP_0031680	Type II atherosclerotic lesion	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031680		
OBO:HP_0031681	Type III atherosclerotic lesion	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031681		
OBO:HP_0031682	Type V atherosclerotic lesion	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031682		
OBO:HP_0031683	Type VI atherosclerotic lesion	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031683		
OBO:HP_0031684	Renal artery atherosclerosis	biolink:OntologyClass	hp		An atherosclerotic lesion located in the renal artery.	http://purl.obolibrary.org/obo/HP_0031684		
OBO:HP_0031685	Abnormal stool composition	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0031685		Abnormal faeces composition|Abnormal feces composition
OBO:HP_0031686	Increased stool alpha1-antitrypsin concentration	biolink:OntologyClass	hp		An abnormally elevated amount of alpha1-antitrypsin in the feces.	http://purl.obolibrary.org/obo/HP_0031686		
OBO:HP_0031687	Abnormally loud pulmonic component of the second heart sound	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0031687		Accentuation of the pulmonic component of the second heart sound
OBO:HP_0031688	Erythroid dysplasia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031688		
OBO:HP_0031689	Megakaryocyte dysplasia	biolink:OntologyClass	hp		The presence of micro-megakaryocytes, hypo-lobed, or non-lobed nuclei in megakaryocytes of all sizes and multiple, widely-separated nuclei.	http://purl.obolibrary.org/obo/HP_0031689		Dysmegakaryopoiesis
OBO:HP_0031690	Opportunistic infection	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031690		
OBO:HP_0031691	Severe viral infection	biolink:OntologyClass	hp		An unusually severe viral infection.	http://purl.obolibrary.org/obo/HP_0031691		
OBO:HP_0031692	Severe cytomegalovirus infection	biolink:OntologyClass	hp		An unusually severe infection by cytomegalovirus.	http://purl.obolibrary.org/obo/HP_0031692		
OBO:HP_0031693	Severe Epstein Barr virus infection	biolink:OntologyClass	hp		An unusually severe Epstein Barr virus (EBV) infection.	http://purl.obolibrary.org/obo/HP_0031693		Fulminant infectious mononucleosis|Severe EBV infection
OBO:HP_0031694	Severe adenovirus infection	biolink:OntologyClass	hp		An unusually severe adenovirus infection.	http://purl.obolibrary.org/obo/HP_0031694		
OBO:HP_0031695	Severe parainfluenza infection	biolink:OntologyClass	hp		An unusually severe infection by a parainfluenza virus.	http://purl.obolibrary.org/obo/HP_0031695		
OBO:HP_0031696	Disseminated viral infection	biolink:OntologyClass	hp		A viral infection that fails to be contained by the immune sytem and spreads throughout the body.	http://purl.obolibrary.org/obo/HP_0031696		
OBO:HP_0031697	Disseminated infection with live vaccine virus	biolink:OntologyClass	hp		A dissemination viral infection caused by a live attenuated vaccine virus.	http://purl.obolibrary.org/obo/HP_0031697		
OBO:HP_0031698	obsolete Disseminated Bacillus Calmette-Guerin infection	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031698		
OBO:HP_0031699	Disseminated cryptosporidium infection	biolink:OntologyClass	hp		Failure to contain infection by a protozoan of the genus Cryptosporidium, leading to spread to many parts of the body.	http://purl.obolibrary.org/obo/HP_0031699		
OBO:HP_0031700	Invasive parasitic infection	biolink:OntologyClass	hp		A parasitic infection whereby the parasite invades (migrates through) tissues of the infected host.	http://purl.obolibrary.org/obo/HP_0031700		
OBO:HP_0031701	Anterior chamber inflammatory cells	biolink:OntologyClass	hp		The presence of inflammatory cells in the aqueous humor of the anterior chamber of the eye.	http://purl.obolibrary.org/obo/HP_0031701		
OBO:HP_0031702	Anterior chamber red blood cells	biolink:OntologyClass	hp		The presence of erythrocyte in the aqueous humor of the anterior chamber of the eye.	http://purl.obolibrary.org/obo/HP_0031702		Anterior chamber RBCs
OBO:HP_0031703	Abnormal ear morphology	biolink:OntologyClass	hp	Fyler:4867	Any structural anomaly of the ear.	http://purl.obolibrary.org/obo/HP_0031703		
OBO:HP_0031704	Abnormal ear physiology	biolink:OntologyClass	hp		Any functional anomaly of the ear.	http://purl.obolibrary.org/obo/HP_0031704		
OBO:HP_0031705	Compensatory head posture	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031705		
OBO:HP_0031706	Compensatory chin depression	biolink:OntologyClass	hp		A tendency to hold the chin depressed (lowered) to compensate for a limitation of eye movement.	http://purl.obolibrary.org/obo/HP_0031706		
OBO:HP_0031707	Compensatory face turn to the right	biolink:OntologyClass	hp		A tendency to turn the face to the right to compensate for a limitation of eye movement.	http://purl.obolibrary.org/obo/HP_0031707		
OBO:HP_0031708	Compensatory face turn to the left	biolink:OntologyClass	hp		A tendency to turn the face to the left to compensate for a limitation of eye movement.	http://purl.obolibrary.org/obo/HP_0031708		
OBO:HP_0031709	Compensatory head tilt to the right shoulder	biolink:OntologyClass	hp		A tendency to tilt the head towards the right shoulder to compensate for a limitation of eye movement.	http://purl.obolibrary.org/obo/HP_0031709		
OBO:HP_0031710	Compensatory head tilt to the left shoulder	biolink:OntologyClass	hp		A tendency to tilt the head towards the left shoulder to compensate for a limitation of eye movement.	http://purl.obolibrary.org/obo/HP_0031710		
OBO:HP_0031711	Asymmetric abdominal aortic aneurysm	biolink:OntologyClass	hp		An abdominal aortic aneurysm that is not symmetric around its axis (not axisymmetric).	http://purl.obolibrary.org/obo/HP_0031711		
OBO:HP_0031713	Constant exotropia	biolink:OntologyClass	hp		A form of divergent strabismus (exotropia) in which the eye turns outward at all distances and at all times.	http://purl.obolibrary.org/obo/HP_0031713		
OBO:HP_0031714	Distance exotropia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031714		
OBO:HP_0031715	Near exotropia	biolink:OntologyClass	hp		An intermittent exotropia where there is binocular single vision on distance fixation and exotropia at near (intermittent or constant).	http://purl.obolibrary.org/obo/HP_0031715		
OBO:HP_0031716	Cyclic exotropia	biolink:OntologyClass	hp		A type of exotropia (divergent strabismus) in which binocular single vision alternates with large angle exotropia in rhythmic cycle.	http://purl.obolibrary.org/obo/HP_0031716		
OBO:HP_0031717	Alternating exotropia	biolink:OntologyClass	hp		A type of exotropia in which either eye may be used for fixation.	http://purl.obolibrary.org/obo/HP_0031717		Alternating strabismus
OBO:HP_0031718	Consecutive exotropia	biolink:OntologyClass	hp		Exotropia in an individual who has previously had esotropia or esophoria.	http://purl.obolibrary.org/obo/HP_0031718		
OBO:HP_0031719	True distance exotropia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031719		
OBO:HP_0031720	Simulated distance exotropia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031720		
OBO:HP_0031721	Sensory exotropia	biolink:OntologyClass	hp		A type of divergent strabismus (exotropia) that develops in a poorly seeing eye.	http://purl.obolibrary.org/obo/HP_0031721		Secondary exotropia
OBO:HP_0031722	Near esotropia	biolink:OntologyClass	hp		An intermittent esotropia where there is binocular single vision on distance fixation and esotropia at near even when the accommodation is relieved.	http://purl.obolibrary.org/obo/HP_0031722		Non-accomodative convergence excess esotropia
OBO:HP_0031723	Secondary esotropia	biolink:OntologyClass	hp		Convergent squint which follows loss or impairment of vision.	http://purl.obolibrary.org/obo/HP_0031723		Sensory esotropia
OBO:HP_0031724	Microtropia	biolink:OntologyClass	hp		A small angle heterotropia (usually of 10 diopters or less) in which a form of binocular single vision occurs.	http://purl.obolibrary.org/obo/HP_0031724		
OBO:HP_0031725	Hypophoria	biolink:OntologyClass	hp		A form of latent strabismus (heterophoria) in which, on dissociation, the occluded eye deviates downwards.	http://purl.obolibrary.org/obo/HP_0031725		
OBO:HP_0031726	Incyclotropia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031726		
OBO:HP_0031727	Excyclotropia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031727		
OBO:HP_0031728	Mild hypermetropia	biolink:OntologyClass	hp		A form of hypermetropia with not more than +2.00 diopters.	http://purl.obolibrary.org/obo/HP_0031728		Mild hyperopia
OBO:HP_0031729	Moderate hypermetropia	biolink:OntologyClass	hp		A form of hypermetropia with more than +2.00 diopters but not more than +5.00 diopters.	http://purl.obolibrary.org/obo/HP_0031729		Moderate hyperopia
OBO:HP_0031730	Axial myopia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031730		
OBO:HP_0031731	Increased tear production	biolink:OntologyClass	hp		Increased lacrimation owing to overproduction of tears.	http://purl.obolibrary.org/obo/HP_0031731		
OBO:HP_0031732	Increased basal tear production	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031732		
OBO:HP_0031733	Reflex tearing	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0031733		
OBO:HP_0031734	Lacrimal pump failure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031734		
OBO:HP_0031736	Involutional entropion	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031736		
OBO:HP_0031737	Cicatricial entropion	biolink:OntologyClass	hp		Abnormal inversion (turning inward) of the eyelid towards the globe associated with scarring that vertically shortens the posterior lamella of the eyelid.	http://purl.obolibrary.org/obo/HP_0031737		
OBO:HP_0031738	Mechanical entropion	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031738		
OBO:HP_0031739	Abnormal oblique muscle physiology	biolink:OntologyClass	hp		A functional anomaly of the inferior or superior oblique muscle.	http://purl.obolibrary.org/obo/HP_0031739		
OBO:HP_0031740	Abnormal horizontal rectus muscle physiology	biolink:OntologyClass	hp		A functional anomaly of the medial rectus muscle or lateral rectus muscle.	http://purl.obolibrary.org/obo/HP_0031740		
OBO:HP_0031741	Inferior oblique muscle underaction	biolink:OntologyClass	hp		Reduced ocular movement by the inferior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy.	http://purl.obolibrary.org/obo/HP_0031741		
OBO:HP_0031742	Inferior rectus muscle underaction	biolink:OntologyClass	hp		Reduced movement by the inferior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.	http://purl.obolibrary.org/obo/HP_0031742		
OBO:HP_0031743	Inferior rectus muscle overaction	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031743		
OBO:HP_0031744	Superior rectus muscle weakness	biolink:OntologyClass	hp		Decreased strength of the superior rectus muscle.	http://purl.obolibrary.org/obo/HP_0031744		
OBO:HP_0031745	Superior rectus muscle overaction	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031745		
OBO:HP_0031746	Superior rectus muscle restriction	biolink:OntologyClass	hp		Mechanical limitation of the range of movement of the superior rectus muscle.	http://purl.obolibrary.org/obo/HP_0031746		
OBO:HP_0031747	Superior rectus muscle underaction	biolink:OntologyClass	hp		Reduced movement of the superior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.	http://purl.obolibrary.org/obo/HP_0031747		
OBO:HP_0031748	Abnormal vertical rectus muscle physiology	biolink:OntologyClass	hp		A functional anomaly of the superior or inferior rectus muscle.	http://purl.obolibrary.org/obo/HP_0031748		
OBO:HP_0031749	Abnormal lateral rectus muscle physiology	biolink:OntologyClass	hp		A functional anomaly of the lateral rectus muscle.	http://purl.obolibrary.org/obo/HP_0031749		
OBO:HP_0031750	Lateral rectus muscle weakness	biolink:OntologyClass	hp		Decreased strength (ability to move) of the lateral rectus muscle.	http://purl.obolibrary.org/obo/HP_0031750		
OBO:HP_0031751	Lateral rectus muscle underaction	biolink:OntologyClass	hp		Reduced movement of the lateral rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.	http://purl.obolibrary.org/obo/HP_0031751		
OBO:HP_0031752	Lateral rectus muscle overaction	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031752		
OBO:HP_0031753	Medial rectus muscle weakness	biolink:OntologyClass	hp		Decreased strength of the medial rectus muscle.	http://purl.obolibrary.org/obo/HP_0031753		
OBO:HP_0031754	Medial rectus muscle overaction	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031754		
OBO:HP_0031755	Abnormal rectus muscle physiology	biolink:OntologyClass	hp		A functional anomaly of a vertical or horizontal rectus muscle.	http://purl.obolibrary.org/obo/HP_0031755		
OBO:HP_0031756	Medial rectus muscle underaction	biolink:OntologyClass	hp		Reduced movement of the medial rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.	http://purl.obolibrary.org/obo/HP_0031756		
OBO:HP_0031757	Medial rectus muscle restriction	biolink:OntologyClass	hp		Mechanical limitation of the range of movement of the medial rectus muscle.	http://purl.obolibrary.org/obo/HP_0031757		
OBO:HP_0031758	Lateral rectus muscle restriction	biolink:OntologyClass	hp		Mechanical limitation of the range of movement of the lateral rectus muscle.	http://purl.obolibrary.org/obo/HP_0031758		
OBO:HP_0031759	Basic constant esotropia	biolink:OntologyClass	hp		A form of convergent strabismus (esotropia) in which the deviation is present under all conditions (ie at all distances and at all times).	http://purl.obolibrary.org/obo/HP_0031759		Basic (constant) esotropia
OBO:HP_0031760	Non-accomodative esotropia	biolink:OntologyClass	hp		A form of esotropia in which the angle of deviation is not affected by accommodative effort.	http://purl.obolibrary.org/obo/HP_0031760		
OBO:HP_0031761	Infantile constant esotropia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031761		Infantile (constant) esotropia
OBO:HP_0031762	Distance esotropia	biolink:OntologyClass	hp		An intermittent esotropia where binocular single vision is present on near fixation and an esotropia on distance fixation. Often associated with myopia and aging.	http://purl.obolibrary.org/obo/HP_0031762		Divergence insufficiency
OBO:HP_0031763	Cyclic esotropia	biolink:OntologyClass	hp		Convergent strabismus in which normal binocular single vision is alternating with large angle esotropia in rhythmic cycle.	http://purl.obolibrary.org/obo/HP_0031763		
OBO:HP_0031764	Fully accomodative esotropia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031764		
OBO:HP_0031765	Partially accomodative esotropia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031765		Constant esotropia with an accommodative component|Constant esotropia with an accommodative element
OBO:HP_0031766	Convergence excess esotropia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031766		
OBO:HP_0031767	Consecutive esotropia	biolink:OntologyClass	hp		Esotropia in a patient who has previously had exotropia or exophoria; may be constant or intermittent and usually follows surgical overcorrection.	http://purl.obolibrary.org/obo/HP_0031767		
OBO:HP_0031768	Parafoveal fixation	biolink:OntologyClass	hp		Fixation of an object in the area adjacent to the fovea.	http://purl.obolibrary.org/obo/HP_0031768		
OBO:HP_0031769	Peripheral fixation	biolink:OntologyClass	hp		Fixation of an object in a peripheral area of the retina.	http://purl.obolibrary.org/obo/HP_0031769		
OBO:HP_0031770	Epicanthus palpebralis	biolink:OntologyClass	hp		A type of epicanthus in which a medial vertical fold is present between upper and lower lids.	http://purl.obolibrary.org/obo/HP_0031770		
OBO:HP_0031771	Epicanthus tarsalis	biolink:OntologyClass	hp		A type of epicanthus in which a primarily upper lid fold is present.	http://purl.obolibrary.org/obo/HP_0031771		
OBO:HP_0031772	Abnormal posterior circulating artery morphology	biolink:OntologyClass	hp		Any structural anomaly of the posterior circulating artery (PCOM).	http://purl.obolibrary.org/obo/HP_0031772		
OBO:HP_0031773	Posterior communicating artery aneurysm	biolink:OntologyClass	hp		A widening (ballooning) localized in the wall of the posterior communicating artery.	http://purl.obolibrary.org/obo/HP_0031773		
OBO:HP_0031774	Posterior communicating artery infundibulum	biolink:OntologyClass	hp		A funnel-shaped symmetrical enlargement of the origin of the posterior communicating artery at its junction with the internal carotid artery.	http://purl.obolibrary.org/obo/HP_0031774		
OBO:HP_0031775	Neurogenic strabismus	biolink:OntologyClass	hp		An ocular deviation caused by a palsy to one or more of the extraocular muscles or nerves supplying them.	http://purl.obolibrary.org/obo/HP_0031775		Paralytic strabismus
OBO:HP_0031776	Cyclotropia	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0031776		
OBO:HP_0031777	Cyclophoria	biolink:OntologyClass	hp		A form of latent strabismus (heterophoria) in which the occluded eye wheel-rotates on dissociation.	http://purl.obolibrary.org/obo/HP_0031777		
OBO:HP_0031778	Incyclophoria	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031778		
OBO:HP_0031779	Excyclophoria	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031779		
OBO:HP_0031780	Eosinophilic ascites	biolink:OntologyClass	hp		A type of ascites in which there are large numbers of eosinophils in the ascitis fluid.	http://purl.obolibrary.org/obo/HP_0031780		
OBO:HP_0031781	Microtropia with identity	biolink:OntologyClass	hp		A type of microtropia with no manifest movement on cover test, the eccentric fixation point coinciding with the angle of ARC.	http://purl.obolibrary.org/obo/HP_0031781		
OBO:HP_0031782	Microtropia without identity	biolink:OntologyClass	hp		A type of microtropia in which the manifest movement is demonstrated on the cover-uncover test.	http://purl.obolibrary.org/obo/HP_0031782		
OBO:HP_0031783	Absent coronary sinus	biolink:OntologyClass	hp	Fyler:2841	A developmental defect in which the coronary sinus fails to form.	http://purl.obolibrary.org/obo/HP_0031783		
OBO:HP_0031784	Abnormal ascending aorta morphology	biolink:OntologyClass	hp	Fyler:1431	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.	http://purl.obolibrary.org/obo/HP_0031784		
OBO:HP_0031785	Abnormal eyelid movement	biolink:OntologyClass	hp		An abnormality in voluntary or involuntary eyelid movements or their control.	http://purl.obolibrary.org/obo/HP_0031785		
OBO:HP_0031786	Cogan lid twitch	biolink:OntologyClass	hp		Transient eyelid retraction during refixation from down to straight ahead.	http://purl.obolibrary.org/obo/HP_0031786		Cogan eyelid twitch|Eyelid twitch|Lid twitch
OBO:HP_0031787	Oblique astigmatism	biolink:OntologyClass	hp		Astigmatism in which the refractive power of the vertical meridian is the greatest.	http://purl.obolibrary.org/obo/HP_0031787		
OBO:HP_0031788	With the rule astigmatism	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0031788		
OBO:HP_0031789	Against the rule astigmatism	biolink:OntologyClass	hp		Astigmatism with more plus power on the horizontal meridian.	http://purl.obolibrary.org/obo/HP_0031789		
OBO:HP_0031790	Mixed astigmatism	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0031790		
OBO:HP_0031791	Lenticular astigmatism	biolink:OntologyClass	hp		A type of astigmatism related to an irregular shape of the lens.	http://purl.obolibrary.org/obo/HP_0031791		
OBO:HP_0031792	Irregular astigmatism	biolink:OntologyClass	hp		A type of astigmatism in which the principle meridians are not 90 degrees apart and which is associated with loss of vision.	http://purl.obolibrary.org/obo/HP_0031792		
OBO:HP_0031793	Increased serum leptin	biolink:OntologyClass	hp		An increased concentration of leptin in the blood.	http://purl.obolibrary.org/obo/HP_0031793		Elevated circulating leptin level
OBO:HP_0031794	Decreased circulating glycerol level	biolink:OntologyClass	hp		A decrease below the normal concentration of glycerol in the blood.	http://purl.obolibrary.org/obo/HP_0031794		
OBO:HP_0031795	Abnormal circulating glycerol level	biolink:OntologyClass	hp		Any deviation from the normal concentration of glycerol in the blood.	http://purl.obolibrary.org/obo/HP_0031795		
OBO:HP_0031796	Recurrent	biolink:OntologyClass	hp		Applies to a sign, symptom or manifestation that occurs multiple times separated by intervals in which the sign, symptom, or manifestation is not present.	http://purl.obolibrary.org/obo/HP_0031796		Intermittent
OBO:HP_0031797	Clinical course	biolink:OntologyClass	hp		The course a disease typically takes from its onset, progression in time, and eventual resolution or death of the affected individual.	http://purl.obolibrary.org/obo/HP_0031797		Natural history of disease
OBO:HP_0031798	Elevated circulating apolipoprotein B concentration	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031798		Elevated ApoB level|Elevated apolipoprotein B level
OBO:HP_0031799	Decreased circulating apolipoprotein AI concentration	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031799		Decreased apo-AI level|Decreased apoA-I level|Decreased apolipoprotein AI level
OBO:HP_0031800	Elevated circulating apolipoprotein A-II concentration	biolink:OntologyClass	hp		An increased concentration in blood of apolipoprotein A-II, a major component of HDL particles, associated with triglyceride and glucose metabolism.	http://purl.obolibrary.org/obo/HP_0031800		Elevated APOAII level|Elevated Apo-AII level|Elevated apoA-II level|Elevated apolipoprotein A-II level
OBO:HP_0031801	Vocal cord dysfunction	biolink:OntologyClass	hp		Any functional anomaly of the vocal cord.	http://purl.obolibrary.org/obo/HP_0031801		
OBO:HP_0031803	Fundus hemorrhage	biolink:OntologyClass	hp		Bleeding within the fundus of the eye.	http://purl.obolibrary.org/obo/HP_0031803		Fundus haemorrhage
OBO:HP_0031804	Premacular hemorrhage	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0031804		Premacular haemorrhage
OBO:HP_0031805	Intraretinal hemorrhage	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031805		Intraretinal haemorrhage
OBO:HP_0031806	Abnormal basophil count	biolink:OntologyClass	hp		Any deviation from the normal number of basophils per volume in the blood circulation.	http://purl.obolibrary.org/obo/HP_0031806		
OBO:HP_0031807	Increased basophil count	biolink:OntologyClass	hp		An abnormally increased count of basophils per volume in the blood circulation.	http://purl.obolibrary.org/obo/HP_0031807		Basophilia
OBO:HP_0031808	Decreased basophil count	biolink:OntologyClass	hp		An abnormally reduced count of basophils per volume in the blood circulation.	http://purl.obolibrary.org/obo/HP_0031808		
OBO:HP_0031809	Archibald's sign	biolink:OntologyClass	hp		Shortening of the fourth and fifth metacarpals when the fist is clenched.	http://purl.obolibrary.org/obo/HP_0031809		Knuckle dimple|Archibald's metacarpal sign
OBO:HP_0031810	Anti-ganglioside antibody positivity	biolink:OntologyClass	hp		The presence of autoantibodies (immunoglobulins) in the serum that react to gangliosides.	http://purl.obolibrary.org/obo/HP_0031810		
OBO:HP_0031811	Bilirubinuria	biolink:OntologyClass	hp		Presence of conjugated bilirubin in the urine.	http://purl.obolibrary.org/obo/HP_0031811		
OBO:HP_0031812	Nitrituria	biolink:OntologyClass	hp		Presence of nitrites in the urine.	http://purl.obolibrary.org/obo/HP_0031812		
OBO:HP_0031813	Colonic eosinophilia	biolink:OntologyClass	hp		An excess of eosinophilic cells in colonic tissue, i.e., eosinophilic infiltration in the colon.	http://purl.obolibrary.org/obo/HP_0031813		Eosinophilic colitis|Eosinophilic infiltration in the colon
OBO:HP_0031814	Palilalia	biolink:OntologyClass	hp		Repetition of one's own words or phrases.	http://purl.obolibrary.org/obo/HP_0031814		
OBO:HP_0031815	Abnormal oral physiology	biolink:OntologyClass	hp		A functional anomaly of the mouth (which is also known as the oral cavity).	http://purl.obolibrary.org/obo/HP_0031815		
OBO:HP_0031816	Abnormal oral morphology	biolink:OntologyClass	hp		Any structural anomaly of the mouth, which is also known as the oral cavity.	http://purl.obolibrary.org/obo/HP_0031816		
OBO:HP_0031817	Decreased circulating parathyroid hormone level	biolink:OntologyClass	hp		An abnormally decreased concentration of parathyroid hormone.	http://purl.obolibrary.org/obo/HP_0031817		Decreased circulating PTH level|Decreased serum PTH|Decreased serum parathyroid hormone|Decreased serum parathyroid hormone level
OBO:HP_0031818	Abnormal waist to hip ratio	biolink:OntologyClass	hp		A deviation from normal of the waist to hip ratio, defined as the waist measurement divided by hip measurement.	http://purl.obolibrary.org/obo/HP_0031818		
OBO:HP_0031819	Increased waist to hip ratio	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031819		Increased WHR|Increased waist-hip ratio|Increased waist-to-hip ratio
OBO:HP_0031820	Decreased waist to hip ratio	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031820		Decreased WHR|Decreased waist-hip ratio|Decreased waist-to-hip ratio
OBO:HP_0031821	Abnormal hypoxanthine-guanine phosphoribosyltransferase level	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031821		Abnormal 6-hydroxypurine phosphoribosyltransferase level|Abnormal GMP pyrophosphorylase level|Abnormal GPRT level
OBO:HP_0031822	Elevated hypoxanthine-guanine phosphoribosyltransferase level	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031822		Elevated 6-hydroxypurine phosphoribosyltransferase level|Elevated 6-mercaptopurine phosphoribosyltransferase level|Elevated GMP pyrophosphorylase level
OBO:HP_0031823	Reduced hypoxanthine-guanine phosphoribosyltransferase level	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031823		Reduced 6-hydroxypurine phosphoribosyltransferase level|Reduced 6-mercaptopurine phosphoribosyltransferase level|Reduced GMP pyrophosphorylase level
OBO:HP_0031824	Hepatic mastocytosis	biolink:OntologyClass	hp		Liver mast cell infiltration.	http://purl.obolibrary.org/obo/HP_0031824		
OBO:HP_0031825	Freezing of gait	biolink:OntologyClass	hp		Freezing of gait is defined as a brief, episodic absence or marked reduction of forward progression of the feet despite the intention to walk.	http://purl.obolibrary.org/obo/HP_0031825		Freezing gait
OBO:HP_0031826	Abnormal reflex	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0031826		
OBO:HP_0031827	Absent abdominal reflex	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031827		Abdominal reflex absent
OBO:HP_0031828	Abnormal superficial reflex	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031828		
OBO:HP_0031829	Absent cremaster reflex	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031829		Absent cremasteric reflex
OBO:HP_0031830	Pinguecula	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031830		
OBO:HP_0031831	Decreased serum zinc	biolink:OntologyClass	hp		A reduced concentration of zinc in the blood.	http://purl.obolibrary.org/obo/HP_0031831		
OBO:HP_0031832	Hypermetric downward saccades	biolink:OntologyClass	hp		Overshoot of downward saccadic eye movements.	http://purl.obolibrary.org/obo/HP_0031832		
OBO:HP_0031833	Hypometric upward saccades	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031833		
OBO:HP_0031834	Aortopulmonary collateral arteries	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031834		
OBO:HP_0031835	Abnormal superoxide dismutase level	biolink:OntologyClass	hp		An abnormal level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide.	http://purl.obolibrary.org/obo/HP_0031835		Abnormal superoxide:superoxide oxidoreductase activity
OBO:HP_0031836	Increased superoxide dismutase level	biolink:OntologyClass	hp		Increased level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide.	http://purl.obolibrary.org/obo/HP_0031836		Increased superoxide:superoxide oxidoreductase activity
OBO:HP_0031837	Decreased superoxide dismutase level	biolink:OntologyClass	hp		Decreased level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide.	http://purl.obolibrary.org/obo/HP_0031837		Decreased superoxide:superoxide oxidoreductase activity
OBO:HP_0031838	Presence of xenobiotic	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031838		
OBO:HP_0031840	Urine xenobiotic	biolink:OntologyClass	hp		The presence of a xenobiotic in urine.	http://purl.obolibrary.org/obo/HP_0031840		
OBO:HP_0031841	Positive urine methadone test	biolink:OntologyClass	hp		Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in urine.	http://purl.obolibrary.org/obo/HP_0031841		
OBO:HP_0031842	Lymphangiectasis	biolink:OntologyClass	hp		Dilation of the lymphatic vessels, the basic process that may result in the formation of a lymphangioma.	http://purl.obolibrary.org/obo/HP_0031842		Lymphangiectasia
OBO:HP_0031843	Bradyphrenia	biolink:OntologyClass	hp		Abnormal slowness of thought processes.	http://purl.obolibrary.org/obo/HP_0031843		Slowness of thought
OBO:HP_0031844	Euphoria	biolink:OntologyClass	hp		A sense of intense joy or happiness that is beyond what would be expected under the given circumstances.	http://purl.obolibrary.org/obo/HP_0031844		
OBO:HP_0031845	Abnormal libido	biolink:OntologyClass	hp		Any deviation from the normal sexual drive or desire for sexual activity.	http://purl.obolibrary.org/obo/HP_0031845		
OBO:HP_0031846	Femur fracture	biolink:OntologyClass	hp	MSH:D005264	A break or crush injury of the thigh bone (femur).	http://purl.obolibrary.org/obo/HP_0031846		Femoral fracture
OBO:HP_0031847	Difficulty walking backward	biolink:OntologyClass	hp		Reduced ability to walk (ambulate) in a backwards direction.	http://purl.obolibrary.org/obo/HP_0031847		
OBO:HP_0031848	Cock-walk gait	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031848		
OBO:HP_0031849	Sleep-wake inversion	biolink:OntologyClass	hp		A reversal of sleeping habits with a tendency to sleep during the day and to be awake at night.	http://purl.obolibrary.org/obo/HP_0031849		
OBO:HP_0031850	Abnormal hematocrit	biolink:OntologyClass	hp		Any deviation from the normal ratio of the volume of red blood cells to the total volume of blood.	http://purl.obolibrary.org/obo/HP_0031850		Abnormal Hct
OBO:HP_0031851	Reduced hematocrit	biolink:OntologyClass	hp		A reduction below the normal ratio of the volume of red blood cells to the total volume of blood.	http://purl.obolibrary.org/obo/HP_0031851		Reduced Hct|Low hematocrit
OBO:HP_0031853	Isomerism	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031853		
OBO:HP_0031854	Left Isomerism	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031854		Left-sided isomerism
OBO:HP_0031855	Right isomerism	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031855		Right-sided isomerism
OBO:HP_0031856	Hobby horse gait	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031856		
OBO:HP_0031857	Ineffective esophageal peristalsis	biolink:OntologyClass	hp		Reduced or inadequate esophageal peristalsis, with resultant slow passage of contents through the esophagus.	http://purl.obolibrary.org/obo/HP_0031857		
OBO:HP_0031858	Esophageal furrows	biolink:OntologyClass	hp		Longitudinal grooves in the surface of the esophagus arranged in a longitudinal fashion (from top to bottom of the esophagus).	http://purl.obolibrary.org/obo/HP_0031858		
OBO:HP_0031860	Abnormal heart rate variability	biolink:OntologyClass	hp		Any abnormality in the variability of the time interval between successive heartbeats.	http://purl.obolibrary.org/obo/HP_0031860		
OBO:HP_0031861	Decreased heart rate variability	biolink:OntologyClass	hp		Reduced variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle.	http://purl.obolibrary.org/obo/HP_0031861		Reduced heart rate variability
OBO:HP_0031862	Increased heart rate variability	biolink:OntologyClass	hp		Increased variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle.	http://purl.obolibrary.org/obo/HP_0031862		
OBO:HP_0031863	Bloodstream infectious agent	biolink:OntologyClass	hp		The presence of an infectious agent in the blood circulation.	http://purl.obolibrary.org/obo/HP_0031863		
OBO:HP_0031864	Bacteremia	biolink:OntologyClass	hp		Presence of viable bacteria in the blood.	http://purl.obolibrary.org/obo/HP_0031864		
OBO:HP_0031865	Abnormal liver physiology	biolink:OntologyClass	hp		Any functional anomaly of the liver.	http://purl.obolibrary.org/obo/HP_0031865		Abnormal hepatic physiology
OBO:HP_0031866	Clasp-knife sign	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031866		
OBO:HP_0031867	Neck hypertonia	biolink:OntologyClass	hp		Increased passive stiffness or tightness of the neck musculature.	http://purl.obolibrary.org/obo/HP_0031867		
OBO:HP_0031868	Optic ataxia	biolink:OntologyClass	hp		Difficulty reaching to visually guided goals in peripheral vision, with the deficit leaves voluntary eye movements largely unaffected.	http://purl.obolibrary.org/obo/HP_0031868		
OBO:HP_0031869	Recurrent joint dislocation	biolink:OntologyClass	hp		Dislocation of a given joint repeated times.	http://purl.obolibrary.org/obo/HP_0031869		
OBO:HP_0031870	Phosphohydroxylysinuria	biolink:OntologyClass	hp		An elevated concentration of phosphohydroxylysine in the urine.	http://purl.obolibrary.org/obo/HP_0031870		
OBO:HP_0031871	Abnormal Langerhans cell morphology	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031871		
OBO:HP_0031872	Absent Birbeck granules in Langerhans cells	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031872		
OBO:HP_0031873	Early chronotype	biolink:OntologyClass	hp		A tendency towards rising very early in the morning and going to bed early in the evening.	http://purl.obolibrary.org/obo/HP_0031873		Early sleep onset
OBO:HP_0031874	Late chronotype	biolink:OntologyClass	hp		A tendency towards rising very late in the morning and going to bed late at night.	http://purl.obolibrary.org/obo/HP_0031874		Late sleep onset
OBO:HP_0031875	Abnormal hepcidin level	biolink:OntologyClass	hp		Any deviation from the normal concentration of hepcidin in the blood circulation.	http://purl.obolibrary.org/obo/HP_0031875		
OBO:HP_0031876	Decreased hepcidin level	biolink:OntologyClass	hp		An abnormally reduced concentration of hepcidin in the blood circulation.	http://purl.obolibrary.org/obo/HP_0031876		
OBO:HP_0031877	Elevated hepcidin level	biolink:OntologyClass	hp		An abnormally increased concentration of hepcidin in the blood circulation.	http://purl.obolibrary.org/obo/HP_0031877		
OBO:HP_0031878	Acromicria	biolink:OntologyClass	hp		Small hands and feet in proportion to the rest of the body.	http://purl.obolibrary.org/obo/HP_0031878		
OBO:HP_0031879	Abnormal eyelid physiology	biolink:OntologyClass	hp		Any functional abnormality of the eyelid.	http://purl.obolibrary.org/obo/HP_0031879		
OBO:HP_0031880	Eyelid laxity	biolink:OntologyClass	hp		Abnormally lax eyelid associated with tissue relaxation; it can be demonstrated by the eyelid distraction test and/or the eyelid snap test.	http://purl.obolibrary.org/obo/HP_0031880		Lid laxity
OBO:HP_0031881	Decreased tear drainage	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031881		
OBO:HP_0031882	Agyria	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031882		Agyria diffuse
OBO:HP_0031883	Increased proinsulin:insulin ratio	biolink:OntologyClass	hp		An elevated concentration of proinsulin (the prohormone precursor to insulin) to mature insulin in the circulation.	http://purl.obolibrary.org/obo/HP_0031883		
OBO:HP_0031884	Abnormal CSF glucose level	biolink:OntologyClass	hp		A deviation from normal concentration of glucose content in the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0031884		
OBO:HP_0031885	Hyperglycorrhachia	biolink:OntologyClass	hp		Abnormally high glucose concentration in the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0031885		Increased CSF glucose
OBO:HP_0031886	Abnormal LDL cholesterol concentration	biolink:OntologyClass	hp		Any deviation from the normal concentration of low-density lipoprotein cholesterol in the blood circulation.	http://purl.obolibrary.org/obo/HP_0031886		Abnormal LDL-C concentration|Abnormal LDL-C level|Abnormal LDLc concentration
OBO:HP_0031887	Abnormal chylomicron concentration	biolink:OntologyClass	hp		Any deviation from the normal circulating concentration of chylomicrons.	http://purl.obolibrary.org/obo/HP_0031887		
OBO:HP_0031888	Abnormal HDL cholesterol concentration	biolink:OntologyClass	hp		Any deviation from the normal concentration of high-density lipoprotein cholesterol (HDL) in the blood.	http://purl.obolibrary.org/obo/HP_0031888		
OBO:HP_0031889	Abnormal VLDL cholesterol concentration	biolink:OntologyClass	hp		Any deviation from the normal concentration of very-low-density lipoprotein cholesterol in the blood.	http://purl.obolibrary.org/obo/HP_0031889		
OBO:HP_0031890	Increased urine urobilinogen	biolink:OntologyClass	hp		An elevated concentration of urobilinogen in the urine.	http://purl.obolibrary.org/obo/HP_0031890		
OBO:HP_0031891	Decreased eosinophil count	biolink:OntologyClass	hp		Abnormal reduction in the count of eosinophils in the blood per volume.	http://purl.obolibrary.org/obo/HP_0031891		
OBO:HP_0031898	Rouleaux formation	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031898		Increased rouleaux formation
OBO:HP_0031899	Abnormal coagulation factor V activity	biolink:OntologyClass	hp		Any deviation from the activity of coagulation factor V.	http://purl.obolibrary.org/obo/HP_0031899		Abnormal factor V activity
OBO:HP_0031900	obsolete Abnormal serum tryptase concentration	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0031900		
OBO:HP_0031901	Elevated total serum tryptase	biolink:OntologyClass	hp		An abnormally elevated concentration of total tryptase (alpha and beta tryptase) in the blood circulation.	http://purl.obolibrary.org/obo/HP_0031901		
OBO:HP_0031902	obsolete Decreased serum mast cell beta-tryptase concentration	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0031902		
OBO:HP_0031903	Abnormal circulating selenium concentration	biolink:OntologyClass	hp		Any deviation from the normal circulating concentration of selenium.	http://purl.obolibrary.org/obo/HP_0031903		Abnormal serum selenium concentration
OBO:HP_0031904	Abnormal total hemolytic complement activity	biolink:OntologyClass	hp		Any deviation from the normal total hemolytic complement activity in the circulation.	http://purl.obolibrary.org/obo/HP_0031904		Abnormal CH50
OBO:HP_0031905	Increased total hemolytic complement activity	biolink:OntologyClass	hp		An abnormally elevated total hemolytic complement activity in the circulation.	http://purl.obolibrary.org/obo/HP_0031905		
OBO:HP_0031906	Decreased total hemolytic complement activity	biolink:OntologyClass	hp		An abnormally reduced total hemolytic complement activity in the circulation.	http://purl.obolibrary.org/obo/HP_0031906		
OBO:HP_0031907	Anti-mitochondrial M2 antibody positivity	biolink:OntologyClass	hp		The presence of M2 anti-mitochondrial antibody (immunoglobulins) in the serum.	http://purl.obolibrary.org/obo/HP_0031907		AMA-M2 positive|Anti-pyruvate dehydrogenase antibody positivity
OBO:HP_0031908	Micrographia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031908		
OBO:HP_0031909	Unicornuate uterus	biolink:OntologyClass	hp		A uterus that has a single horn, with a banana-like shape that may or may not have a secondary rudimentary uterine horn.	http://purl.obolibrary.org/obo/HP_0031909		
OBO:HP_0031910	Abnormal cranial nerve physiology	biolink:OntologyClass	hp		A functional abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem.	http://purl.obolibrary.org/obo/HP_0031910		
OBO:HP_0031911	Abnormal fifth cranial nerve physiology	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0031911		
OBO:HP_0031912	Trigeminal anesthesia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031912		Trigeminal anaesthesia
OBO:HP_0031913	Rhombencephalosynapsis	biolink:OntologyClass	hp		Rhombencephalosynapsis is a rare brain malformation defined by midline fusion of the cerebellar hemispheres with partial or complete loss of the intervening vermis.	http://purl.obolibrary.org/obo/HP_0031913		
OBO:HP_0031914	Fluctuating	biolink:OntologyClass	hp		Varying irregularly over time in severity, amount, or amplitude.	http://purl.obolibrary.org/obo/HP_0031914		
OBO:HP_0031915	Stable	biolink:OntologyClass	hp		This modifier can be applied to a phenotypic feature that does not vary in severity or amount over time.	http://purl.obolibrary.org/obo/HP_0031915		
OBO:HP_0031917	Digital ulcer	biolink:OntologyClass	hp		An open sore on the surface of the skin of a finger or toe.	http://purl.obolibrary.org/obo/HP_0031917		
OBO:HP_0031918	Ovarian sex cord-stromal tumor	biolink:OntologyClass	hp		A benign or malignant neoplasm that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts.	http://purl.obolibrary.org/obo/HP_0031918		Ovarian sex cord-stromal tumour
OBO:HP_0031919	Juvenile type ovarian granulosa cell tumor	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031919		Juvenile type ovarian granulosa cell tumour|Ovarian juvenile granulosa cell tumour|Ovarian juvenile granulosa cell tumor
OBO:HP_0031920	Malignant ovarian granulosa cell tumor	biolink:OntologyClass	hp		An aggressive granulosa cell tumor that arises from the ovary.	http://purl.obolibrary.org/obo/HP_0031920		Malignant ovarian granulosa cell tumour
OBO:HP_0031921	Gastrocnemius myalgia	biolink:OntologyClass	hp		Pain of the gastrocnemius muscle.	http://purl.obolibrary.org/obo/HP_0031921		Calf muscle pain|Calf myalgia
OBO:HP_0031922	Renal artery duplication	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031922		Accessory renal artery|Double renal artery
OBO:HP_0031923	Hematocolpos	biolink:OntologyClass	hp		Accumulation of blood in the vagina usually due to vaginal obstruction.	http://purl.obolibrary.org/obo/HP_0031923		Haematocolpos
OBO:HP_0031924	Rope sign	biolink:OntologyClass	hp		The presence of linear erythematous palpable cords, often on the lateral trunk.	http://purl.obolibrary.org/obo/HP_0031924		
OBO:HP_0031925	Rosette	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031925		
OBO:HP_0031926	Homer Wright rosette	biolink:OntologyClass	hp		A type of rosette in which the central lumen or hub is filled with fiber-like processes.	http://purl.obolibrary.org/obo/HP_0031926		
OBO:HP_0031927	Flexner-Wintersteiner rosette	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031927		
OBO:HP_0031928	True ependymal rosette	biolink:OntologyClass	hp		A type of rosette in which a halo of cells surrounds an empty lumen.	http://purl.obolibrary.org/obo/HP_0031928		
OBO:HP_0031929	Perivascular pseudorosette	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031929		
OBO:HP_0031930	Neurocytic rosette	biolink:OntologyClass	hp		A type of rosette that is similar to the Homer Wright rosette, but the central fiber-rich neuropil island is larger and more irregular.	http://purl.obolibrary.org/obo/HP_0031930		Pineocytomatous rosette
OBO:HP_0031931	Ocular flutter	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031931		
OBO:HP_0031932	Aorto-left ventricular tunnel	biolink:OntologyClass	hp		Aorto-left ventricular tunnel (ALVT) is a congenital extracardiac channel connecting the ascending aorta above the sino-tubular junction to either left ventricular cavity.	http://purl.obolibrary.org/obo/HP_0031932		Left ventricle to aorta tunnel
OBO:HP_0031933	Aorto-right ventricular tunnel	biolink:OntologyClass	hp		The presence of an extracardiac channel that connects the ascending aorta above the sinotubular junction to the cavity of the right ventricle.	http://purl.obolibrary.org/obo/HP_0031933		Right ventricle to aorta tunnel
OBO:HP_0031934	Abnormal descending aorta morphology	biolink:OntologyClass	hp		A structural abnormality of the part of the aorta that begins at the aortic arch and then descends through the chest and abdomen.	http://purl.obolibrary.org/obo/HP_0031934		
OBO:HP_0031935	Ascending aorta hypoplasia	biolink:OntologyClass	hp		Significant luminal narrowing of a long segment of or the entire ascending aorta.	http://purl.obolibrary.org/obo/HP_0031935		
OBO:HP_0031936	Delayed ability to walk	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031936		Delayed walking
OBO:HP_0031937	Tachylalia	biolink:OntologyClass	hp		Extreme rapidity of speech.	http://purl.obolibrary.org/obo/HP_0031937		Tachylogia
OBO:HP_0031938	Abnormal conus terminalis morphology	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0031938		Abnormal conus medullaris morphology
OBO:HP_0031939	Conus terminalis arteriovenous malformation	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0031939		
OBO:HP_0031941	Abnormal portal venous system morphology	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031941		
OBO:HP_0031942	Congenital absence of portal vein	biolink:OntologyClass	hp		Anomaly where the intestinal and the splenic venous drainage bypass the liver and drain into systemic veins through other possible venous shunts.	http://purl.obolibrary.org/obo/HP_0031942		CAPV|Missing portal vein
OBO:HP_0031943	Akathisia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031943		
OBO:HP_0031944	Pleural thickening	biolink:OntologyClass	hp		An increase in the thickness of the pleura, generally related to scarring of the pleural tissue.	http://purl.obolibrary.org/obo/HP_0031944		
OBO:HP_0031945	Elevated N,N-dimethylglycine level	biolink:OntologyClass	hp		An increased concentration of N,N-dimethylglycine in the circulation.	http://purl.obolibrary.org/obo/HP_0031945		
OBO:HP_0031946	Elevated urinary N,N-dimethylglycine level	biolink:OntologyClass	hp		An increased concentration of N,N-dimethylglycine in the urine.	http://purl.obolibrary.org/obo/HP_0031946		
OBO:HP_0031947	Tongue tremor	biolink:OntologyClass	hp		An unintentional, oscillating to-and-fro muscle movement affecting the tongue.	http://purl.obolibrary.org/obo/HP_0031947		Jerky movements of the tongue
OBO:HP_0031948	Snowball lesion of corpus callosum	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031948		
OBO:HP_0031949	Recurrent bacterial upper respiratory tract infections	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0031949		Recurrent bacterial URI
OBO:HP_0031950	Usual interstitial pneumonia	biolink:OntologyClass	hp		Temporal and spatial heterogeneity in lungs based on presence of fibrosis and honeycombing.	http://purl.obolibrary.org/obo/HP_0031950		
OBO:HP_0031951	Nocturnal seizures	biolink:OntologyClass	hp		Seizures that occur while the affected individual is sleeping.	http://purl.obolibrary.org/obo/HP_0031951		Sleep seizures
OBO:HP_0031952	Neurogenic claudication	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031952		
OBO:HP_0031953	Cautious gait	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031953		Senile gait
OBO:HP_0031954	Dystonic gait	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031954		
OBO:HP_0031955	Antalgic gait	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031955		Limp
OBO:HP_0031956	Elevated serum aspartate aminotransferase	biolink:OntologyClass	hp		An abnormally high concentration in the circulation of aspartate aminotransferase (AST).	http://purl.obolibrary.org/obo/HP_0031956		Elevated serum AST|Aspartate aminotransferase increased|Elevated serum glutamic oxaloacetic transaminase
OBO:HP_0031957	Spastic hemiparetic gait	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031957		Wernicke-Mann gait
OBO:HP_0031958	Spastic paraparetic gait	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031958		
OBO:HP_0031959	Leg dystonia	biolink:OntologyClass	hp		A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the legs.	http://purl.obolibrary.org/obo/HP_0031959		
OBO:HP_0031960	Arm dystonia	biolink:OntologyClass	hp		A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the arms.	http://purl.obolibrary.org/obo/HP_0031960		
OBO:HP_0031961	Abnormal serum anion gap	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031961		
OBO:HP_0031962	Elevated serum anion gap	biolink:OntologyClass	hp		An abnormally high value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration).	http://purl.obolibrary.org/obo/HP_0031962		
OBO:HP_0031963	Decreased serum anion gap	biolink:OntologyClass	hp		An abnormally low value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration).	http://purl.obolibrary.org/obo/HP_0031963		
OBO:HP_0031964	Elevated serum alanine aminotransferase	biolink:OntologyClass	hp		An abnormally high concentration in the circulation of alanine aminotransferase (ALT), which is an enzyme that catalyzes the transfer of amino groups to form the hepatic metabolite oxaloacetate. ALT is found abundantly in the cytosol of the hepatocyte. ALT activity in the liver is about 3000 times that of serum activity. Thus, in the case of hepatocellular injury or death, release of ALT from damaged liver cells increases measured ALT activity in the serum. Although it is generally thought to be specific to the liver, it is also found in the kidney, and, in much smaller quantities, in heart and skeletal muscle cells.	http://purl.obolibrary.org/obo/HP_0031964		Elevated serum ALT|Alanine aminotransferase increased|Elevated serum glutamic-pyruvic transaminase
OBO:HP_0031965	Increased RBC distribution width	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031965		Increased red blood cell distribution width
OBO:HP_0031967	Cloudy urine	biolink:OntologyClass	hp		The appearance of the urine having visible material in suspension, i.e., appearing cloudy.	http://purl.obolibrary.org/obo/HP_0031967		Turbid urine
OBO:HP_0031969	Reduced blood urea nitrogen	biolink:OntologyClass	hp		An abnormally low concentration of urea nitrogen in the blood.	http://purl.obolibrary.org/obo/HP_0031969		Reduced BUN
OBO:HP_0031970	Abnormal blood urea nitrogen concentration	biolink:OntologyClass	hp		Any deviation from the normal concentration of urea nitrogen in the blood.	http://purl.obolibrary.org/obo/HP_0031970		Abnormal BUN concentration
OBO:HP_0031971	Subaortic ventricular septal bulge	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031971		
OBO:HP_0031972	Presyncope	biolink:OntologyClass	hp		Presyncope is a state of lightheadedness, muscular weakness, blurred vision, and feeling faint. Presyncope is most often cardiovascular in cause.	http://purl.obolibrary.org/obo/HP_0031972		
OBO:HP_0031973	Increased vertical cup-to-disc ratio	biolink:OntologyClass	hp		An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disc.	http://purl.obolibrary.org/obo/HP_0031973		
OBO:HP_0031974	Increased vertical cup-to-disc ratio - 0.6	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0031974		
OBO:HP_0031975	Increased vertical cup-to-disc ratio - 0.7	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0031975		
OBO:HP_0031976	Increased vertical cup-to-disc ratio - 0.8	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0031976		
OBO:HP_0031977	Increased vertical cup-to-disc ratio - 0.9	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0031977		
OBO:HP_0031978	Increased vertical cup-to-disc ratio - 1.0	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0031978		
OBO:HP_0031979	Abnormal urine carbohydrate level	biolink:OntologyClass	hp		Any deviation from the normal concentration of a carbohydrate in the urine.	http://purl.obolibrary.org/obo/HP_0031979		
OBO:HP_0031980	Abnormal urine carboxylic acid level	biolink:OntologyClass	hp		Any deviation from the normal concentration of a carboxylic acid in the urine.	http://purl.obolibrary.org/obo/HP_0031980		
OBO:HP_0031981	Elevated urine glycolate	biolink:OntologyClass	hp		An increased concentration of glycolate in the urine.	http://purl.obolibrary.org/obo/HP_0031981		
OBO:HP_0031982	Abnormal putamen morphology	biolink:OntologyClass	hp		Any structural anomaly of the putamen, a brain nucleus which together with the caudate nucleus and fundus striati makes up the striatum.	http://purl.obolibrary.org/obo/HP_0031982		
OBO:HP_0031983	Abnormal pulmonary thoracic imaging finding	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031983		Abnormal chest radiograph finding (lung)
OBO:HP_0031984	Esophageal food impaction	biolink:OntologyClass	hp		A piece of food that has gotten stuck in the esophagus and prevents further swallowing.	http://purl.obolibrary.org/obo/HP_0031984		
OBO:HP_0031985	Esophageal exudate	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031985		
OBO:HP_0031986	Polyminimyoclonus	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031986		
OBO:HP_0031987	Diminished ability to concentrate	biolink:OntologyClass	hp		Being unable to focus one's attention or mental effort on a particular object or activity.	http://purl.obolibrary.org/obo/HP_0031987		Poor concentration|Lack of concentration
OBO:HP_0031988	obsolete Muscle spasm	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0031988		
OBO:HP_0031989	Perioral spasm	biolink:OntologyClass	hp		A sudden involuntary contraction of the musculature surrounding the mouth.	http://purl.obolibrary.org/obo/HP_0031989		
OBO:HP_0031990	Chvostek sign	biolink:OntologyClass	hp		A contraction of ipsilateral facial muscles subsequent to percussion over the facial nerve.	http://purl.obolibrary.org/obo/HP_0031990		
OBO:HP_0031991	Increased urinary excretion of galactosyl hydroxylysine	biolink:OntologyClass	hp		An increased concentration of beta-1-galactosyl-O-hydroxylysine (Gal-Hyl) in the urine. This is a biochemical marker of bone resorption.	http://purl.obolibrary.org/obo/HP_0031991		
OBO:HP_0031992	Apical hypertrophic cardiomyopathy	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031992		
OBO:HP_0031993	Hoffmann sign	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031993		
OBO:HP_0031994	Bronchial breath sound	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031994		
OBO:HP_0031995	Squawks	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0031995		
OBO:HP_0031996	Inspiratory crackles	biolink:OntologyClass	hp		Crackles that are heard during the inspiratory phase.	http://purl.obolibrary.org/obo/HP_0031996		
OBO:HP_0031997	Early inspiratory crackles	biolink:OntologyClass	hp		Crackles that appear at the beginning of inspiration and end before mid-inspiration.	http://purl.obolibrary.org/obo/HP_0031997		
OBO:HP_0031998	Late inspiratory crackles	biolink:OntologyClass	hp		Crackles that appear any time after the beginning of inspiration and last till the end of inspiration.	http://purl.obolibrary.org/obo/HP_0031998		
OBO:HP_0031999	Expiratory crackles	biolink:OntologyClass	hp		Crackles that occur during expiration.	http://purl.obolibrary.org/obo/HP_0031999		
OBO:HP_0032000	Pleural rub	biolink:OntologyClass	hp		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	http://purl.obolibrary.org/obo/HP_0032000		
OBO:HP_0032001	Pink urine	biolink:OntologyClass	hp		An abnormal pink color of urine.	http://purl.obolibrary.org/obo/HP_0032001		
OBO:HP_0032002	Orange urine	biolink:OntologyClass	hp		An abnormal orange color of urine.	http://purl.obolibrary.org/obo/HP_0032002		
OBO:HP_0032003	Green urine	biolink:OntologyClass	hp		An abnormal green color of urine.	http://purl.obolibrary.org/obo/HP_0032003		
OBO:HP_0032004	Pruritus vulvae	biolink:OntologyClass	hp		A sensation of itching in the vulvar region.	http://purl.obolibrary.org/obo/HP_0032004		
OBO:HP_0032005	Hemidystonia	biolink:OntologyClass	hp		Hemidystonia refers to dystonia which involves the ipsilateral face, arm, and leg.	http://purl.obolibrary.org/obo/HP_0032005		
OBO:HP_0032006	Lip tremor	biolink:OntologyClass	hp		An unintentional, oscillating to-and-fro muscle movement affecting the lip.	http://purl.obolibrary.org/obo/HP_0032006		
OBO:HP_0032007	Maceration	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032007		Maceration of the skin|Skin maceration
OBO:HP_0032008	Pulmonary fat embolism	biolink:OntologyClass	hp		The release of fat globules into the venous circulation, thereby blocking blood circulation to the lung.	http://purl.obolibrary.org/obo/HP_0032008		Fat embolism
OBO:HP_0032009	Infantile constant exotropia	biolink:OntologyClass	hp		Constant exotropia occurring before 6 months of age.; often associated with a large angle of deviation and ocular/CNS abnormalities.	http://purl.obolibrary.org/obo/HP_0032009		Infantile (constant) exotropia
OBO:HP_0032010	Basic constant exotropia	biolink:OntologyClass	hp		Constant exotropia for near and distance, presenting after 6 months of age.	http://purl.obolibrary.org/obo/HP_0032010		Basic (constant) exotropia
OBO:HP_0032011	Heterophoria	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032011		
OBO:HP_0032012	Heterotropia	biolink:OntologyClass	hp		Manifest deviation of the visual axes not controlled by fusion.	http://purl.obolibrary.org/obo/HP_0032012		
OBO:HP_0032013	Hypermetric horizontal saccades	biolink:OntologyClass	hp		Overshoot of horizontal (sideways) saccadic eye movements.	http://purl.obolibrary.org/obo/HP_0032013		
OBO:HP_0032014	Dysmetric vertical saccades	biolink:OntologyClass	hp		Inaccurate saccades (rapid movement of the eye between fixation points) in the vertical direction.	http://purl.obolibrary.org/obo/HP_0032014		
OBO:HP_0032015	Dysmetric horizontal saccades	biolink:OntologyClass	hp		Inaccurate saccades (rapid movement of the eye between fixation points) in the horizontal direction.	http://purl.obolibrary.org/obo/HP_0032015		
OBO:HP_0032016	Abnormal sputum	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032016		Abnormal sputum morphology
OBO:HP_0032017	Sputum eosinophilia	biolink:OntologyClass	hp		An increased proportion of eosinophils in sputum in the differentiated cell count.	http://purl.obolibrary.org/obo/HP_0032017		
OBO:HP_0032018	Multiple mononeuropathy	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032018		Mononeuritis multiplex
OBO:HP_0032019	Muscle eosinophilia	biolink:OntologyClass	hp		Eosinophil infiltration of skeletal muscle.	http://purl.obolibrary.org/obo/HP_0032019		Eosinophilic infiltration of skeletal muscle
OBO:HP_0032020	Eosinophilic bladder infiltration	biolink:OntologyClass	hp		Transmural inflammation of the bladder predominantly with eosinophils, associated with fibrosis with or without muscle necrosis.	http://purl.obolibrary.org/obo/HP_0032020		Eosinophilic cystitis
OBO:HP_0032021	Eosinophilic liver infiltration	biolink:OntologyClass	hp		Cellular infiltration of the liver parenchyma with a preponderance of eosinophils.	http://purl.obolibrary.org/obo/HP_0032021		Eosinophilic hepatitis
OBO:HP_0032022	Eosinophilic dermal infiltration	biolink:OntologyClass	hp		Presence of abnormally increased amounts of intraepidermal inflammatory cells with a predominance of eosinophils.	http://purl.obolibrary.org/obo/HP_0032022		Eosinophilic dermatitis
OBO:HP_0032023	Eosinophilic gallbladder infiltration	biolink:OntologyClass	hp		Cellular infiltrate confirmed by a cellular infiltrate comprised of mainly eosinophils in the gallbladder wall on histological examination.	http://purl.obolibrary.org/obo/HP_0032023		Eosinophilic cholecystitis
OBO:HP_0032024	Ileal ulcer	biolink:OntologyClass	hp		An erosion of the mucous membrane in a portion of the ileum.	http://purl.obolibrary.org/obo/HP_0032024		
OBO:HP_0032025	Reduced serum alpha-1-antitrypsin	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032025		
OBO:HP_0032026	Anetoderma	biolink:OntologyClass	hp		Circumscribed area of flaccid skin due to the loss of elastic tissue in the dermis.	http://purl.obolibrary.org/obo/HP_0032026		
OBO:HP_0032027	Retinal dots	biolink:OntologyClass	hp		Yellow, white or greyish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size.	http://purl.obolibrary.org/obo/HP_0032027		
OBO:HP_0032028	Macular dots	biolink:OntologyClass	hp		Yellow, white or greyish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size.	http://purl.obolibrary.org/obo/HP_0032028		
OBO:HP_0032029	Floppy eyelid	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032029		
OBO:HP_0032030	Lateral canthal tendon laxity	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032030		
OBO:HP_0032031	Medial canthal tendon laxity	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032031		
OBO:HP_0032032	Horizontal eyelid laxity	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032032		
OBO:HP_0032033	Vertical eyelid laxity	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032033		
OBO:HP_0032034	Upper eyelid laxity	biolink:OntologyClass	hp		Abnormally lax upper eyelid associated with tissue relaxation.	http://purl.obolibrary.org/obo/HP_0032034		
OBO:HP_0032035	Lower eyelid laxity	biolink:OntologyClass	hp		Abnormally lax lower eyelid associated with tissue relaxation.	http://purl.obolibrary.org/obo/HP_0032035		
OBO:HP_0032036	Abnormal contrast sensitivity	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032036		
OBO:HP_0032037	Mildly reduced visual acuity	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0032037		Mild reduction in visual acuity|Mild vision loss|Mild visual loss
OBO:HP_0032039	Abnormality of the ocular adnexa	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032039		
OBO:HP_0032040	Abnormal ocular adnexa physiology	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032040		
OBO:HP_0032041	Vocal cord polyp	biolink:OntologyClass	hp		A small growth on a vocal cord that may appear as pedunculated or sessile and have varying size, shape, and color.	http://purl.obolibrary.org/obo/HP_0032041		
OBO:HP_0032043	Odynophagia	biolink:OntologyClass	hp		Pain experienced with swallowing.	http://purl.obolibrary.org/obo/HP_0032043		Painful swallowing
OBO:HP_0032044	Decreased vigilance	biolink:OntologyClass	hp		A reduction in the ability to maintain sustained attention characterized by reduced alertness.	http://purl.obolibrary.org/obo/HP_0032044		
OBO:HP_0032045	Hypoplastic carotid canal	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032045		
OBO:HP_0032046	Focal cortical dysplasia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032046		
OBO:HP_0032047	Focal cortical dysplasia type I	biolink:OntologyClass	hp		A type of focal cortical dysplasia that is characterized by abnormal cortical layering.	http://purl.obolibrary.org/obo/HP_0032047		
OBO:HP_0032048	Focal cortical dysplasia type Ia	biolink:OntologyClass	hp		A subtype of focal cortical dysplasia type I that is characterized by abnormal radial cortical lamination.	http://purl.obolibrary.org/obo/HP_0032048		
OBO:HP_0032049	Focal cortical dysplasia type Ib	biolink:OntologyClass	hp		A subtype of focal cortical dysplasia type I that is characterized by abnormal tangential cortical lamination.	http://purl.obolibrary.org/obo/HP_0032049		
OBO:HP_0032050	Focal cortical dysplasia type Ic	biolink:OntologyClass	hp		A subtype of focal cortical dysplasia type I that is characterized by abnormal radial and tangential cortical lamination.	http://purl.obolibrary.org/obo/HP_0032050		
OBO:HP_0032051	Focal cortical dysplasia type II	biolink:OntologyClass	hp		A type of focal cortical dysplasia that is characterized by disrupted cortical lamination and specific cytological abnormalities.	http://purl.obolibrary.org/obo/HP_0032051		
OBO:HP_0032052	Focal cortical dysplasia type IIa	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032052		
OBO:HP_0032053	Focal cortical dysplasia type IIb	biolink:OntologyClass	hp		A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons (significantly enlarged with accumulation of neurofilament proteins) and balloon cells.	http://purl.obolibrary.org/obo/HP_0032053		
OBO:HP_0032054	Focal cortical dysplasia type III	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032054		
OBO:HP_0032055	Focal cortical dysplasia type IIIa	biolink:OntologyClass	hp		A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organisation (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (HS, syn. Ammon's horn sclerosis).	http://purl.obolibrary.org/obo/HP_0032055		
OBO:HP_0032056	Focal cortical dysplasia type IIIb	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032056		
OBO:HP_0032057	Focal cortical dysplasia type IIIc	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0032057		
OBO:HP_0032058	Focal cortical dysplasia type IIId	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032058		
OBO:HP_0032059	Mild malformation of cortical development	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032059		
OBO:HP_0032060	Epithelioid hemangioma	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032060		Angiolymphoid hyperplasia with eosinophilia
OBO:HP_0032061	Hypereosinophilia	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0032061		
OBO:HP_0032062	Mallory-Weiss tear	biolink:OntologyClass	hp		Vomiting-induced mucosal laceration at the esophago-gastric junction.	http://purl.obolibrary.org/obo/HP_0032062		
OBO:HP_0032063	Ankle joint effusion	biolink:OntologyClass	hp		Abnormal accumulation of fluid in or around the ankle joint.	http://purl.obolibrary.org/obo/HP_0032063		
OBO:HP_0032064	Gastrointestinal eosinophilia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032064		GI eosinophilia|Eosinophilic enteritis|Eosinophilic gastroenteritis|Eosinophilic gastrointestinal disease|Eosinophilic gastrointestinal disorders
OBO:HP_0032065	Abnormal serum bicarbonate concentration	biolink:OntologyClass	hp		Any deviation from the normal concentration of bicarbonate, HCO3[-], in the circulation.	http://purl.obolibrary.org/obo/HP_0032065		Abnormal serum HCO3 concentration
OBO:HP_0032066	Decreased serum bicarbonate concentration	biolink:OntologyClass	hp		An abnormal reduction of the concentration of bicarbonate, HCO3[-], in the circulation.	http://purl.obolibrary.org/obo/HP_0032066		Decreased serum HCO3 concentration
OBO:HP_0032067	Elevated serum bicarbonate concentration	biolink:OntologyClass	hp		An abnormal increase in the concentration of bicarbonate, HCO3[-], in the circulation.	http://purl.obolibrary.org/obo/HP_0032067		Elevated serum HCO3 concentration
OBO:HP_0032068	Increased urinary mucus	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032068		
OBO:HP_0032069	Anti-thyroglobulin antibody positivity	biolink:OntologyClass	hp		The presence of autoantibodies (immunoglobulins) in the serum that react to thyroglobulin.	http://purl.obolibrary.org/obo/HP_0032069		
OBO:HP_0032070	Leptomeningeal enhancement	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032070		
OBO:HP_0032071	Eosinophilic pneumonia	biolink:OntologyClass	hp		The presence of eosinophils in lung tissue, generally as detected by tissue biopsy, with or without blood eosinophilia.	http://purl.obolibrary.org/obo/HP_0032071		Eosinophilic pulmonary infiltration|Pulmonary eosinophilic infiltrate|Pulmonary eosinophilic infiltration|Pulmonary eosinophilia
OBO:HP_0032072	Popliteal synovial cyst	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032072		Baker's cyst
OBO:HP_0032073	Aplasia of the fallopian tube	biolink:OntologyClass	hp		Aplasia, that is failure to develop, of the fallopian tube.	http://purl.obolibrary.org/obo/HP_0032073		
OBO:HP_0032075	Splenopancreatic fusion	biolink:OntologyClass	hp		Fusion of the pancreatic tail and spleen.	http://purl.obolibrary.org/obo/HP_0032075		
OBO:HP_0032076	Abnormal male urethral meatus morphology	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0032076		
OBO:HP_0032077	Male urethral meatus stenosis	biolink:OntologyClass	hp		An abnormal narrowing of the urethral opening (meatus) of the penis.	http://purl.obolibrary.org/obo/HP_0032077		Meatal stenosis|Meatus stenosis
OBO:HP_0032078	Angel-shaped phalanx	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0032078		
OBO:HP_0032079	Medial degeneration	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032079		
OBO:HP_0032081	Intralamellar mucoid extracellular matrix accumulation	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032081		
OBO:HP_0032082	Translamellar mucoid extracellular matrix accumulation	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032082		
OBO:HP_0032083	Aortic elastic fiber fragmentation	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032083		Aortic elastic fibre fragmentation
OBO:HP_0032084	Aortic elastic fiber thinning	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032084		Aortic elastic fibre thinning
OBO:HP_0032085	Aortic elastic fiber disorganization	biolink:OntologyClass	hp		Nonparallel arrangement/disarray of elastic fibers of the media of the aorta as identified on a stain for elastic fibers.	http://purl.obolibrary.org/obo/HP_0032085		Aortic elastic fibre disorganisation
OBO:HP_0032086	Aortic smooth muscle cell nuclei loss	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032086		
OBO:HP_0032087	Aortic laminar medial collapse	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032087		
OBO:HP_0032088	Aortic smooth muscle cell disorganization	biolink:OntologyClass	hp		Nonparallel arrangement/disarray of smooth muscle cells of the aortic media creating focal/multifocal disarray or sometimes nodular aggregates of smooth muscle cells.	http://purl.obolibrary.org/obo/HP_0032088		Aortic smooth muscle cell disorganisation
OBO:HP_0032089	Aortic medial fibrosis	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0032089		
OBO:HP_0032090	Intralamellar aortic medial fibrosis	biolink:OntologyClass	hp		A type of aortic medial fibrosis in which the increase in collagen does not significantly alter the arrangement of the lamellar units.	http://purl.obolibrary.org/obo/HP_0032090		
OBO:HP_0032091	Translamellar aortic medial fibrosis	biolink:OntologyClass	hp		A type of aortic medial fibrosis in which the increase in collagen is more scar-like, altering the arrangement of the lamellar units.	http://purl.obolibrary.org/obo/HP_0032091		
OBO:HP_0032092	Left ventricular outflow tract obstruction	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032092		
OBO:HP_0032094	Increased circulating surfactant protein level	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032094		Increased serum surfactant protein level
OBO:HP_0032096	Abnormal manganese concentration	biolink:OntologyClass	hp		A deviation from the normal range of manganese in the blood circulation.	http://purl.obolibrary.org/obo/HP_0032096		
OBO:HP_0032097	Hypermanganesemia	biolink:OntologyClass	hp		An elevation above the normal concentration of manganese in the blood.	http://purl.obolibrary.org/obo/HP_0032097		Increased blood manganese concentration
OBO:HP_0032098	Hypomanganesemia	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0032098		A reduction below the normal concentration of manganese in the blood.
OBO:HP_0032099	Perioral radial furrowing	biolink:OntologyClass	hp		The presence of radial grooves in the skin surrounding the mouth (see Figure 4 of PMID:27833976).	http://purl.obolibrary.org/obo/HP_0032099		
OBO:HP_0032100	Abnormal doll's eye reflex	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032100		
OBO:HP_0032101	Unusual infection	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032101		
OBO:HP_0032102	Wilson sign	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032102		
OBO:HP_0032104	Saccadic oscillation	biolink:OntologyClass	hp		An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by an immediate corrective saccade.	http://purl.obolibrary.org/obo/HP_0032104		Saccadic oscillations
OBO:HP_0032105	Macrosaccadic oscillations	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032105		Macrosaccadic oscillation
OBO:HP_0032106	Conjunctival icterus	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032106		Yellowing of the whites of the eyes|Scleral icterus|Yellow conjunctiva|Yellow sclera
OBO:HP_0032107	Limbal stem cell deficiency	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032107		
OBO:HP_0032108	Mildly reduced contrast sensitivity	biolink:OntologyClass	hp		A mild reduction in the ability to perceive visual contrast characterized by 0.20-0.59 log unit contrast sensitivity loss.	http://purl.obolibrary.org/obo/HP_0032108		Mild reduction in contrast sensitivity
OBO:HP_0032109	Moderately reduced contrast sensitivity	biolink:OntologyClass	hp		A moderate reduction in the ability to perceive visual contrast characterized by 0.60-0.99 log unit contrast sensitivity loss.	http://purl.obolibrary.org/obo/HP_0032109		Moderate reduction in contrast sensitivity
OBO:HP_0032110	Severely reduced contrast sensitivity	biolink:OntologyClass	hp		A severe reduction in the ability to perceive visual contrast characterized by 1.00 log unit or more contrast sensitivity loss.	http://purl.obolibrary.org/obo/HP_0032110		
OBO:HP_0032111	Abnormal Vistech contrast sensitivity test	biolink:OntologyClass	hp		An abnormality in perception of contrast as measured by the Vistech wall chart sine wave grating test.	http://purl.obolibrary.org/obo/HP_0032111		
OBO:HP_0032112	Abnormal Pelli Robson contrast sensitivity chart test	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032112		
OBO:HP_0032113	Semidominant mode of inheritance	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032113		
OBO:HP_0032114	Saccadic intrusion	biolink:OntologyClass	hp		An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by a delayed corrective saccade.	http://purl.obolibrary.org/obo/HP_0032114		
OBO:HP_0032116	Macrosquare-wave jerks	biolink:OntologyClass	hp		Horizontal 10-40 degree excursions from fixation and back again.	http://purl.obolibrary.org/obo/HP_0032116		
OBO:HP_0032117	obsolete Macrosaccadic oscillation	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0032117		
OBO:HP_0032118	Retinitis	biolink:OntologyClass	hp		Inflammation of the retina of the eye.	http://purl.obolibrary.org/obo/HP_0032118		
OBO:HP_0032119	Narrow angle glaucoma	biolink:OntologyClass	hp		A type of glaucomatous optic neuropathy occuring in the presence of a narrow anterior chamber angle.	http://purl.obolibrary.org/obo/HP_0032119		
OBO:HP_0032120	Abnormal peripheral nervous system physiology	biolink:OntologyClass	hp		Any functional abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord.	http://purl.obolibrary.org/obo/HP_0032120		
OBO:HP_0032121	Froment sign	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032121		Froment thumb sign
OBO:HP_0032122	Very low visual acuity	biolink:OntologyClass	hp		A reduction in visual acuity with best corrected visual acuity between 1.40 (20/500) and 1.89 logMAR (up to roughly 20/1590).	http://purl.obolibrary.org/obo/HP_0032122		
OBO:HP_0032123	Ultra-low vision	biolink:OntologyClass	hp		Best corrected visual acuity worse than 1.90 logMAR (roughly 20/1590).	http://purl.obolibrary.org/obo/HP_0032123		
OBO:HP_0032124	Abnormal proportion of unswitched memory B cells	biolink:OntologyClass	hp		A deviation of the normal proportion of unswitched memory B cells in circulation relative to the total number of B cells.	http://purl.obolibrary.org/obo/HP_0032124		Abnormal proportion of non-class-switched memory B cells
OBO:HP_0032125	Increased proportion of unswitched memory B cells	biolink:OntologyClass	hp		An increase above the normal proportion of non-class-switched memory B cells relative to the total number of B cells.	http://purl.obolibrary.org/obo/HP_0032125		Elevated proportion of unswitched memory B cells|Increased proportion of non-class-switched memory B cells
OBO:HP_0032126	Decreased proportion of unswitched memory B cells	biolink:OntologyClass	hp		A reduction below the normal proportion of non-class-switched memory B cells relative to the total number of B cells.	http://purl.obolibrary.org/obo/HP_0032126		Decreased proportion of non-class-switched memory B cells|Reduced proportion of unswitched memory B cells
OBO:HP_0032127	Abnormal plasmablast proportion	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032127		
OBO:HP_0032128	Increased proportion of plasmablasts	biolink:OntologyClass	hp		An elevation above the normal proportion of plasmablasts in circulation relative to total number of B cells.	http://purl.obolibrary.org/obo/HP_0032128		
OBO:HP_0032129	Decreased proportion of plasmablasts	biolink:OntologyClass	hp		A reduction below the normal proportion of plasmablasts in circulation relative to total number of B cells.	http://purl.obolibrary.org/obo/HP_0032129		
OBO:HP_0032130	Mycobacterium abscessus abscessus infection	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032130		
OBO:HP_0032131	Cervical dysplasia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032131		
OBO:HP_0032132	Decreased circulating total IgG	biolink:OntologyClass	hp		A reduction beneath the normal level of total immunoglobulin G (IgG) in the blood.	http://purl.obolibrary.org/obo/HP_0032132		
OBO:HP_0032133	Transient decreased circulating total IgG	biolink:OntologyClass	hp		A temporary reduction beneath the normal level of total immunoglobulin G (IgG) in the blood.	http://purl.obolibrary.org/obo/HP_0032133		
OBO:HP_0032134	Chronic decreased circulating total IgG	biolink:OntologyClass	hp		A lasting reduction beneath the normal level of total immunoglobulin G (IgG) in the blood.	http://purl.obolibrary.org/obo/HP_0032134		Chronic decreased total IgG in blood
OBO:HP_0032135	Decreased circulating IgG subclass level	biolink:OntologyClass	hp		A reduction below the normal concentration of a subclass of immunoglobulin G (IgG) in the blood.	http://purl.obolibrary.org/obo/HP_0032135		Decreased IgG subclass level in blood
OBO:HP_0032136	Decreased circulating IgG1 level	biolink:OntologyClass	hp		A reduction in immunoglobulin levels of the IgG1 subclass in the blood circulation.	http://purl.obolibrary.org/obo/HP_0032136		Decreased IgG1 level in blood
OBO:HP_0032137	Decreased circulating IgG3 level	biolink:OntologyClass	hp		A reduction in immunoglobulin levels of the IgG3 subclass in the blood circulation.	http://purl.obolibrary.org/obo/HP_0032137		Decreased IgG3 level in blood
OBO:HP_0032138	Decreased circulating IgG4 level	biolink:OntologyClass	hp		A reduction in immunoglobulin levels of the IgG4 subclass in the blood circulation.	http://purl.obolibrary.org/obo/HP_0032138		Decreased IgG4 level in blood
OBO:HP_0032139	Reduced isohemagglutinin level	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0032139		Decreased natural antibody to blood group agents|Partial absence of isohemagglutinins
OBO:HP_0032140	Decreased specific antibody response to vaccination	biolink:OntologyClass	hp		A reduced ability to synthesize postvaccination antibodies against toxoids and polysaccharides in vaccines, as measured by antibody titer determination following vaccination.	http://purl.obolibrary.org/obo/HP_0032140		
OBO:HP_0032141	Precordial pain	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032141		
OBO:HP_0032142	Fetor hepaticus	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032142		Foetor hepaticus
OBO:HP_0032143	Burning mouth	biolink:OntologyClass	hp		An intense sensation of burning, scalding, or tingling feeling of the tongue or other regions of the oral mucosa.	http://purl.obolibrary.org/obo/HP_0032143		
OBO:HP_0032144	Coffee ground vomitus	biolink:OntologyClass	hp		Vomit that has the appearance of coffee grounds, which occurs due to the presence of coagulated blood in the vomit.	http://purl.obolibrary.org/obo/HP_0032144		Coffee grounds emesis|Coffee grounds vomiting
OBO:HP_0032145	Sural nerve atrophy	biolink:OntologyClass	hp		Wasting of the sural nerve, a sensory nerve in the calf region of the leg.	http://purl.obolibrary.org/obo/HP_0032145		Atrophy of sural nerve
OBO:HP_0032146	HbC hemoglobin	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032146		HbC haemoglobin|Hemoglobin C
OBO:HP_0032147	Erythromelalgia	biolink:OntologyClass	hp		Recurrent episodes of redness, burning pain, and warmth of the extremities following exposure to heat or exercise with symptoms predominantly involving the feet.	http://purl.obolibrary.org/obo/HP_0032147		
OBO:HP_0032148	Episodic pain	biolink:OntologyClass	hp		Intermittent pain, i.e., pain that occurs occasionally and at irregular intervals.	http://purl.obolibrary.org/obo/HP_0032148		
OBO:HP_0032149	Breakthrough pain	biolink:OntologyClass	hp		A episode of severe pain that breaks through (i.e., temporarily exacerbates) a period of persistent pain.	http://purl.obolibrary.org/obo/HP_0032149		
OBO:HP_0032150	Paroxysmal rectal pain	biolink:OntologyClass	hp		Excruciating burning pain in the rectal area that may be triggered by defecation.	http://purl.obolibrary.org/obo/HP_0032150		
OBO:HP_0032151	Episodic eosinophilia	biolink:OntologyClass	hp		Recurrent episodes of marked eosinophilia that resolve spontaneously.	http://purl.obolibrary.org/obo/HP_0032151		
OBO:HP_0032152	Keratosis pilaris	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032152		Chicken skin|Carpet tack sign|Follicular keratosis|Follicular keratotic plug|Follicular plugging|Hyperkeratosis pilaris|Lichen pilaris
OBO:HP_0032153	Joint subluxation	biolink:OntologyClass	hp		A partial dislocation of a joint.	http://purl.obolibrary.org/obo/HP_0032153		
OBO:HP_0032154	Aphthous ulcer	biolink:OntologyClass	hp		Oral aphthous ulcers typically present as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border.	http://purl.obolibrary.org/obo/HP_0032154		Canker sore
OBO:HP_0032155	Abdominal cramps	biolink:OntologyClass	hp		A type of abdominal pain characterized by a feeling of contractions and typically fluctuating in intensity.	http://purl.obolibrary.org/obo/HP_0032155		
OBO:HP_0032156	Skin detachment	biolink:OntologyClass	hp		Loss of sections of skin either spontaneously or after gentle handling.	http://purl.obolibrary.org/obo/HP_0032156		Detached skin|Epidermal detachment|Skin sloughing
OBO:HP_0032157	Recurrent genital herpes	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032157		
OBO:HP_0032158	Unusual infection by anatomical site	biolink:OntologyClass	hp		An unusual infection classified by the affected body part.	http://purl.obolibrary.org/obo/HP_0032158		
OBO:HP_0032159	Fungal meningitis	biolink:OntologyClass	hp		An infection of the meninges caused by a fungus. Generally, only individuals with deficiencies of the immune system contract fungal meningitis.	http://purl.obolibrary.org/obo/HP_0032159		
OBO:HP_0032160	Cryptococcal meningitis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032160		
OBO:HP_0032161	Coccidioidal meningitis	biolink:OntologyClass	hp		A type of fungal meningitis caused by dissemination of coccidioides to basilar meninges.	http://purl.obolibrary.org/obo/HP_0032161		
OBO:HP_0032162	Unusual skin infection	biolink:OntologyClass	hp		A type of infection of the skin that can be regarded as a sign of a pathological susceptibility to infection.	http://purl.obolibrary.org/obo/HP_0032162		
OBO:HP_0032163	Molluscum contagiosum	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032163		
OBO:HP_0032164	Increased blood folate concentration	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0032164		An elevated circulating concentration of folic acid, which is also known as vitamin B9.
OBO:HP_0032165	Placental mesenchymal dysplasia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032165		
OBO:HP_0032166	Unusual gastrointestinal infection	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0032166		Unusual GI infection
OBO:HP_0032167	Clostridium difficile enteritis	biolink:OntologyClass	hp		An infection of the small intestine (enteritis) by clostridium difficile.	http://purl.obolibrary.org/obo/HP_0032167		C. difficile enteritis
OBO:HP_0032168	Clostridium difficile colitis	biolink:OntologyClass	hp		An infection of the colon (colitis) by clostridium difficile.	http://purl.obolibrary.org/obo/HP_0032168		
OBO:HP_0032169	Severe infection	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032169		Unusual course of infection
OBO:HP_0032170	Severe varicella zoster infection	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032170		
OBO:HP_0032171	Bladder pain	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032171		
OBO:HP_0032172	Air crescent sign	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032172		
OBO:HP_0032173	Continuous diaphragm sign	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032173		
OBO:HP_0032174	Tree-in-bud pattern	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0032174		
OBO:HP_0032175	Signet ring sign	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032175		
OBO:HP_0032176	Apical pulmonary opacity	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032176		Apical cap|Apical pleural thickening
OBO:HP_0032177	Parenchymal consolidation	biolink:OntologyClass	hp		Consolidation refers to an exudate or other product of disease that replaces alveolar air, rendering the lung solid (as in infective pneumonia).	http://purl.obolibrary.org/obo/HP_0032177		
OBO:HP_0032178	Flaky paint dermatosis	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0032178		Flaky paint skin appearance
OBO:HP_0032179	Abnormal circulating globulin level	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032179		
OBO:HP_0032180	Abnormal circulating metabolite concentration	biolink:OntologyClass	hp		An abnormal level of an analyte measured in the blood.	http://purl.obolibrary.org/obo/HP_0032180		
OBO:HP_0032181	Anomalous hepatic venous drainage into the left atrium	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032181		
OBO:HP_0032182	Abnormal proportion of memory T cells	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032182		Abnormal proportion of CD4+CD29+ cells
OBO:HP_0032183	Decreased proportion of memory T cells	biolink:OntologyClass	hp		An abnormally reduced proportion of memory T cells compared to the total number of T cells in the blood.	http://purl.obolibrary.org/obo/HP_0032183		Decreased proportion of CD4+CD29+ cells
OBO:HP_0032184	Increased proportion of memory T cells	biolink:OntologyClass	hp		An abnormally elevated proportion of memory T cells compared to the total number of T cells in the blood.	http://purl.obolibrary.org/obo/HP_0032184		Increased proportion of CD4+CD29+ cells
OBO:HP_0032185	Disseminated molluscum contagiosum	biolink:OntologyClass	hp		The presense of molluscum contagiosum lesions across multiple areas of the body.	http://purl.obolibrary.org/obo/HP_0032185		
OBO:HP_0032186	Anal neoplasm	biolink:OntologyClass	hp		A benign or malignant neoplasm that affects the anal canal or anal margin.	http://purl.obolibrary.org/obo/HP_0032186		
OBO:HP_0032187	Anal intraepithelial neoplasia	biolink:OntologyClass	hp		Anal intraepithelial neoplasia (AIN) is a premalignant lesion of the anal mucosa that is a precursor to anal cancer.	http://purl.obolibrary.org/obo/HP_0032187		
OBO:HP_0032188	Cellular hypersensitivity to mitomycin C	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032188		
OBO:HP_0032189	Cellular hypersensitivity to diepoxybutane	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032189		
OBO:HP_0032190	Abnormal meniscus morphology	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032190		
OBO:HP_0032191	Torn meniscus	biolink:OntologyClass	hp		A tear in the cartilaginous pad (meniscus) of the knee.	http://purl.obolibrary.org/obo/HP_0032191		
OBO:HP_0032192	Hydatidiform mole	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032192		
OBO:HP_0032193	Decreased low-density lipoprotein particle size	biolink:OntologyClass	hp		An abnormal decrease in the average size of low-density lipoprotein particle size in the blood circulation.	http://purl.obolibrary.org/obo/HP_0032193		
OBO:HP_0032195	Abnormal S wave	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032195		
OBO:HP_0032196	Prominent S wave in lead I	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032196		
OBO:HP_0032197	Deep S wave in lead V5	biolink:OntologyClass	hp		Abnormal depth of the S wave in lead V5 of the electrocardiogram.	http://purl.obolibrary.org/obo/HP_0032197		
OBO:HP_0032198	Decreased prothrombin time	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032198		Decreased INR|Decreased PT|Decreased international normalized ratio
OBO:HP_0032199	Abnormal prothrombin time	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032199		Abnormal PT
OBO:HP_0032200	Perivascular fibrosis	biolink:OntologyClass	hp		The presence of thick collagen bundles around blood vessels, often in an onion-skin type whorling pattern.	http://purl.obolibrary.org/obo/HP_0032200		
OBO:HP_0032201	Rotator cuff tear	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032201		
OBO:HP_0032202	Vulvar intraepithelial neoplasia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032202		
OBO:HP_0032203	Lymphoid nodular hyperplasia	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0032203		Lymphonodular hyperplasia of the colon
OBO:HP_0032204	Chronic active Epstein-Barr virus infection	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032204		
OBO:HP_0032205	Increased circulating galectin-3 level	biolink:OntologyClass	hp		Galectin-3 is a member of the family of beta-galactoside-binding endogenous lectins. It is a multifunctional factor that binds to distinct ligands and triggers production of matrix metalloproteinases, and thereby plays a role in cardiac fibrosis and remodelling.	http://purl.obolibrary.org/obo/HP_0032205		An increased circulation of galectin-3 in the blood circulation.
OBO:HP_0032207	Abnormal cerebrospinal fluid metabolite concentration	biolink:OntologyClass	hp		Any deviation from the normal concentration of a metabolite in cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0032207		Abnormal CSF metabolite concentration
OBO:HP_0032208	Increased urinary type 1 collagen N-terminal telopeptide level	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032208		Increased urine NTx level|Increased collagen crosslinked N-telopeptide [Moles/volume] in 24 hour urine
OBO:HP_0032209	Abnormal circulating free T3 level	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032209		Abnormal circulating free T3 concentration|Abnormal circulating free triiodotyronine concentration
OBO:HP_0032210	Decreased circulating free T3	biolink:OntologyClass	hp		A reduced concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation.	http://purl.obolibrary.org/obo/HP_0032210		Decreased circulating free triiodothyronine
OBO:HP_0032211	Increased urinary epithelial cell count	biolink:OntologyClass	hp		An increased number of epithelial cells per high-power field in urinanalysis.	http://purl.obolibrary.org/obo/HP_0032211		
OBO:HP_0032212	Increased urinary squamous epithelial cell count	biolink:OntologyClass	hp		An increased number of squamous epithelial cells per high-power field in urinanalysis.	http://purl.obolibrary.org/obo/HP_0032212		
OBO:HP_0032213	Increased urinary renal tubular epithelial cell count	biolink:OntologyClass	hp		An increased number of renal tubular epithelial cells per high-power field in urinanalysis.	http://purl.obolibrary.org/obo/HP_0032213		
OBO:HP_0032214	Increased urinary transitional epithelial cell count	biolink:OntologyClass	hp		An increased number of transitional epithelial cells per high-power field in urinanalysis.	http://purl.obolibrary.org/obo/HP_0032214		
OBO:HP_0032215	Disseminated cutaneous warts	biolink:OntologyClass	hp		Multiple skin warts located in multiple parts of the body, e.g., neck, trunks, and extremities.	http://purl.obolibrary.org/obo/HP_0032215		
OBO:HP_0032216	Lymphocytic infiltration of the colorectal mucosa	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032216		
OBO:HP_0032217	Indurated nodule	biolink:OntologyClass	hp		A skin nodule that is unusually hard (indurated).	http://purl.obolibrary.org/obo/HP_0032217		
OBO:HP_0032218	Decreased proportion of CD4-positive T cells	biolink:OntologyClass	hp		A reduction in the proportion of CD4-positive T cells relative to the total number of T cells.	http://purl.obolibrary.org/obo/HP_0032218		Decreased proportion of CD4+ cells|Decreased proportion of CD4-positive, alpha-beta T cells|Reduced proportion of CD4-positive cells
OBO:HP_0032219	Increased proportion of CD4-positive T cells	biolink:OntologyClass	hp		An elevation in the proportion of CD4-positive T cells relative to the total number of T cells.	http://purl.obolibrary.org/obo/HP_0032219		Elevated proportion of CD4-positive T cells|Increased proportion of CD4+ T cells|Increased proportion of CD4-positive, alpha-beta T cells
OBO:HP_0032220	Interface hepatitis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032220		
OBO:HP_0032221	Periportal emperipolesis	biolink:OntologyClass	hp		The engulfing of lymphocytes by hepatocytes, which typically occurs in the interface hepatitis area.	http://purl.obolibrary.org/obo/HP_0032221		
OBO:HP_0032222	Serrated intestinal polyps	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032222		Serrated polyposis
OBO:HP_0032223	Blood group	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032223		
OBO:HP_0032224	ABO blood group	biolink:OntologyClass	hp		The ABO system consists of A and B antigens and antibodies against these antigens.	http://purl.obolibrary.org/obo/HP_0032224		
OBO:HP_0032225	Perifollicular fibroma	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032225		
OBO:HP_0032226	Abnormal sebaceous gland morphology	biolink:OntologyClass	hp		Any structural anomaly of the sebaceous glands.	http://purl.obolibrary.org/obo/HP_0032226		
OBO:HP_0032227	Sebaceous hyperplasia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032227		
OBO:HP_0032228	Trichodiscoma	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032228		
OBO:HP_0032229	Perinuclear antineutrophil antibody positivity	biolink:OntologyClass	hp		The presence of autoantibodies in the serum that react against proteins predominantly expressed in perinuclear region of neutrophils.	http://purl.obolibrary.org/obo/HP_0032229		p-ANCA positivity
OBO:HP_0032230	Cytoplasmic antineutrophil antibody positivity	biolink:OntologyClass	hp		The presence of autoantibodies in the serum that react against proteins predominantly expressed in cytoplasmic granules of neutrophils.	http://purl.obolibrary.org/obo/HP_0032230		
OBO:HP_0032231	Hypochromia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032231		
OBO:HP_0032232	Increased circulating creatine kinase MB isoform	biolink:OntologyClass	hp		An increased concentration of the MB isoform of creatine kinase in the blood circulation.	http://purl.obolibrary.org/obo/HP_0032232		Increased circulating CK MB isoform
OBO:HP_0032233	Increased circulating creatine kinase BB isoform	biolink:OntologyClass	hp		An increased concentration of the BB isoform of creatine kinase in the blood circulation.	http://purl.obolibrary.org/obo/HP_0032233		Increased circulating CK BB isoform
OBO:HP_0032234	Increased circulating creatine kinase MM isoform	biolink:OntologyClass	hp		An increased concentration of the MM isoform of creatine kinase in the blood circulation.	http://purl.obolibrary.org/obo/HP_0032234		Increased circulating CK MM isoform
OBO:HP_0032235	Anti-La/SS-B antibody positivity	biolink:OntologyClass	hp		The presence of autoantibodies in the blood circulation that react against La/SSB autoantigens.	http://purl.obolibrary.org/obo/HP_0032235		
OBO:HP_0032236	Increased circulating immature neutrophil count	biolink:OntologyClass	hp		An abnormally increased number of immature neutrophils in the peripheral blood circulation.	http://purl.obolibrary.org/obo/HP_0032236		
OBO:HP_0032237	Increased circulating myelocyte count	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032237		
OBO:HP_0032238	Increased circulating metamyelocyte count	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032238		
OBO:HP_0032239	Increased circulating band cell count	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032239		Increased circulating band form neutrophils|Left shift
OBO:HP_0032240	Elevated circulating E selectin level	biolink:OntologyClass	hp		An increased concentration of E selectin in the blood circulation.	http://purl.obolibrary.org/obo/HP_0032240		
OBO:HP_0032241	Cervical neoplasm	biolink:OntologyClass	hp		A tumor (abnormal growth of tissue) of the uterine cervix.	http://purl.obolibrary.org/obo/HP_0032241		
OBO:HP_0032242	Cervical intraepithelial neoplasia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032242		
OBO:HP_0032243	Abnormal tissue metabolite concentration	biolink:OntologyClass	hp		Any deviation from the normal concentration of a metabolite in a tissue.	http://purl.obolibrary.org/obo/HP_0032243		
OBO:HP_0032244	Decreased serum thromboxane B2	biolink:OntologyClass	hp		A reduction in the concentration of thromboxane B2 in the blood circulation.	http://purl.obolibrary.org/obo/HP_0032244		
OBO:HP_0032245	Abnormal metabolism	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032245		
OBO:HP_0032247	Persistent CMV viremia	biolink:OntologyClass	hp		Lasting (uncontrolled) presence of cytomegalovirus in the blood circulation.	http://purl.obolibrary.org/obo/HP_0032247		
OBO:HP_0032248	Persistent viremia	biolink:OntologyClass	hp		Persistence of virus in the blood circulation longer than would be normal in an immunocompentent host.	http://purl.obolibrary.org/obo/HP_0032248		
OBO:HP_0032249	Coccidioidomycosis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032249		Valley fever
OBO:HP_0032250	Acinetobacter infection	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032250		
OBO:HP_0032251	Abnormal immune system morphology	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0032251		
OBO:HP_0032252	Granuloma	biolink:OntologyClass	hp		A compact, organized collection of mature mononuclear phagocytes, which may be but is not necessarily accompanied by accessory features such as necrosis.	http://purl.obolibrary.org/obo/HP_0032252		
OBO:HP_0032253	Eosinophilic granuloma	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032253		
OBO:HP_0032254	Increased circulating copper concentration	biolink:OntologyClass	hp		An abnormally elevated concentration of copper in the blood circulation. This term refers to the total copper concentration.	http://purl.obolibrary.org/obo/HP_0032254		Elevated serum copper|Hypercupremia
OBO:HP_0032255	Opportunistic fungal infection	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032255		
OBO:HP_0032256	Histoplasmosis	biolink:OntologyClass	hp		Histoplasmosis is caused by the fungus Histoplasma capsulatum and is consider to be an opportunistic infection in immunosuppressed persons.	http://purl.obolibrary.org/obo/HP_0032256		
OBO:HP_0032257	Disseminated histoplasmosis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032257		
OBO:HP_0032258	Pulmonary histoplasmosis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032258		
OBO:HP_0032259	Chronic tinea infection	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032259		
OBO:HP_0032260	Opportunistic bacterial infection	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032260		
OBO:HP_0032261	Nontuberculous mycobacterial pulmonary infection	biolink:OntologyClass	hp		An infection of the lung caused by environmental mycobacteria. Such infections can occur in individuals with predisposing lung disease or immune disease.	http://purl.obolibrary.org/obo/HP_0032261		
OBO:HP_0032262	Pulmonary tuberculosis	biolink:OntologyClass	hp		A lung infection by Mycobacterium tuberculosis a slightly curved non-motile, aerobic, non-capsulated and non-spore forming strains of mycobacteria.	http://purl.obolibrary.org/obo/HP_0032262		Pulmonary TB
OBO:HP_0032263	Increased blood pressure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032263		Increased BP
OBO:HP_0032264	Anti-NMDA receptor antibody positivity	biolink:OntologyClass	hp		The presence of autoantibodies (immunoglobulins) in the serum that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor.	http://purl.obolibrary.org/obo/HP_0032264		Presence of anti-N-methyl-D-aspartate Receptor antibody in blood|Presence of anti-NMDAR antibody in blood
OBO:HP_0032265	CSF autoimmune antibody positivity	biolink:OntologyClass	hp		The presence of an antibody in the cerebrospinal fluid (CSF) that is directed against the organism's own cells or tissues.	http://purl.obolibrary.org/obo/HP_0032265		Cerebrospinal fluid autoimmune antibody positivity
OBO:HP_0032266	CSF anti-NMDA receptor antibody positivity	biolink:OntologyClass	hp		The presence of autoantibodies (immunoglobulins) in the cerebrospinal fluid (CSF) that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor.	http://purl.obolibrary.org/obo/HP_0032266		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
OBO:HP_0032267	Empty delta sign	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032267		
OBO:HP_0032268	Dural tail sign	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032268		
OBO:HP_0032269	Lemon sign	biolink:OntologyClass	hp		Bifrontal flattening of the fetal head as observed by prenatal ultrasonographic examination, an appearance that is said to resemble a lemon.	http://purl.obolibrary.org/obo/HP_0032269		
OBO:HP_0032270	Optic nerve tram-track sign	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032270		
OBO:HP_0032271	Extrapulmonary tuberculosis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032271		Extrapulmonary TB
OBO:HP_0032272	Elevated urinary N-acetylaspartic acid level	biolink:OntologyClass	hp		Elevated N-acetylaspartic acid (NAA) in urine. This feature can be measured using gas chromatography-mass spectrometry.	http://purl.obolibrary.org/obo/HP_0032272		
OBO:HP_0032273	Increased circulating N-Acetylaspartic acid concentration	biolink:OntologyClass	hp		An abnormally increased concentration of N-Acetylaspartic acid in the blood circulation.	http://purl.obolibrary.org/obo/HP_0032273		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
OBO:HP_0032274	Increased CSF N-Acetylaspartic acid concentration	biolink:OntologyClass	hp		An abnormally increased concentration of N-Acetylaspartic acid in the cerebrospinal fluid (CSF).	http://purl.obolibrary.org/obo/HP_0032274		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
OBO:HP_0032275	Recurrent shingles	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032275		
OBO:HP_0032276	Prominent subcalcaneal fat pad	biolink:OntologyClass	hp		Abnormally increased prominence of the fat pad underneath the heal. This feature can be appreciated in figure 1 of PMID:26769062.	http://purl.obolibrary.org/obo/HP_0032276		
OBO:HP_0032277	Lozenge-shaped umbilicus	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0032277		
OBO:HP_0032278	2-hydroxyglutarate aciduria	biolink:OntologyClass	hp		An increase in the level of 2-hydroxyglutaric acid in the urine.	http://purl.obolibrary.org/obo/HP_0032278		
OBO:HP_0032281	Abnormal base excess	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0032281		
OBO:HP_0032282	Contact dermatitis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032282		
OBO:HP_0032283	Disseminated nontuberculous mycobacterial infection	biolink:OntologyClass	hp		An infection with nontuberculous mycobacteria that affects multiple body sites. Such infections can occur in individuals with immune disease.	http://purl.obolibrary.org/obo/HP_0032283		
OBO:HP_0032284	Ultra-low vision with retained motion projection	biolink:OntologyClass	hp		Ultra-low vision but with retained ability to identify a moving object (typically hand motion at distance of 30 cm).	http://purl.obolibrary.org/obo/HP_0032284		
OBO:HP_0032285	Ultra-low vision with retained light projection	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032285		
OBO:HP_0032286	Ultra-low vision with retained light perception	biolink:OntologyClass	hp		Ultra-low vision but with retained ability to perceive the difference between light and dark.	http://purl.obolibrary.org/obo/HP_0032286		
OBO:HP_0032287	Ultra-low vision with no light perception	biolink:OntologyClass	hp		Ultra-low vision with complete lack of light and form perception.	http://purl.obolibrary.org/obo/HP_0032287		
OBO:HP_0032288	Polyclonal elevation of circulating IgG	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032288		
OBO:HP_0032289	Oligoclonal elevation of circulating IgG	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032289		
OBO:HP_0032290	Monoclonal elevation of IgG	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032290		
OBO:HP_0032291	Monoclonal elevation of intact IgG	biolink:OntologyClass	hp		A type of monoclonal elevation of IgG in which the involved immunoglobulin has a normal structure with a light and heavy chain.	http://purl.obolibrary.org/obo/HP_0032291		
OBO:HP_0032292	Monoclonal elevation of IgG light chain	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032292		
OBO:HP_0032293	Monoclonal elevation of IgG heavy chain	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032293		
OBO:HP_0032294	Monoclonal elevation of IgG kappa chain	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032294		
OBO:HP_0032295	Monoclonal elevation of IgG lambda chain	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032295		
OBO:HP_0032296	Increased circulating IgG subclass	biolink:OntologyClass	hp		An elevation of circulating IgG level predominantly related to an elevation of one of the four IgG subclasses.	http://purl.obolibrary.org/obo/HP_0032296		
OBO:HP_0032297	Increased circulating IgG3 level	biolink:OntologyClass	hp		An abnormally increased concentration of the IgG3 subtype in the blood circulation.	http://purl.obolibrary.org/obo/HP_0032297		
OBO:HP_0032298	Increased circulating IgG1 level	biolink:OntologyClass	hp		An abnormally increased concentration of the IgG1 subtype in the blood circulation.	http://purl.obolibrary.org/obo/HP_0032298		
OBO:HP_0032299	Increased circulating IgG2 level	biolink:OntologyClass	hp		An abnormally increased concentration of the IgG2 subtype in the blood circulation.	http://purl.obolibrary.org/obo/HP_0032299		
OBO:HP_0032300	Increased circulating IgG4 level	biolink:OntologyClass	hp		An abnormally increased concentration of the IgG4 subtype in the blood circulation.	http://purl.obolibrary.org/obo/HP_0032300		
OBO:HP_0032301	Genital warts	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032301		
OBO:HP_0032302	Kappa Bence Jones proteinuria	biolink:OntologyClass	hp		The presence of free monoclonal kappa immunoglobulin light chains in the urine.	http://purl.obolibrary.org/obo/HP_0032302		
OBO:HP_0032303	Lambda Bence Jones proteinuria	biolink:OntologyClass	hp		The presence of free monoclonal lambda immunoglobulin light chains in the urine.	http://purl.obolibrary.org/obo/HP_0032303		
OBO:HP_0032304	Abnormal mannose-binding protein level	biolink:OntologyClass	hp		Any deviation from the normal concentration of mannose-binding protein in the blood circulation.	http://purl.obolibrary.org/obo/HP_0032304		
OBO:HP_0032305	Decreased mannose-binding protein level	biolink:OntologyClass	hp		An abnormal reduction below the normal concentration of mannose-binding protein in the blood circulation.	http://purl.obolibrary.org/obo/HP_0032305		
OBO:HP_0032306	Increased mannose-binding protein level	biolink:OntologyClass	hp		An abnormal elevation above the normal concentration of mannose-binding protein in the blood circulation.	http://purl.obolibrary.org/obo/HP_0032306		
OBO:HP_0032308	Increased circulating procalcitonin level	biolink:OntologyClass	hp		An elevated concentration of procalcitonin in the blood circulation.	http://purl.obolibrary.org/obo/HP_0032308		
OBO:HP_0032309	Abnormal granulocyte count	biolink:OntologyClass	hp		Any deviation from the normal cell count per volume of granulocytes in the blood circulation.	http://purl.obolibrary.org/obo/HP_0032309		
OBO:HP_0032310	Granulocytosis	biolink:OntologyClass	hp		An increased count of granulocytes in the peripheral blood circulation.	http://purl.obolibrary.org/obo/HP_0032310		
OBO:HP_0032311	Increased circulating globulin level	biolink:OntologyClass	hp		An abnormally elevated concentration of globulins in the blood.	http://purl.obolibrary.org/obo/HP_0032311		
OBO:HP_0032312	Decreased circulating globulin level	biolink:OntologyClass	hp		An abnormally reduced concentration of globulins in the blood.	http://purl.obolibrary.org/obo/HP_0032312		
OBO:HP_0032313	Frontotemporal hypertrichosis	biolink:OntologyClass	hp		Excessive, increased hair growth located in the region of the forehead and temple.	http://purl.obolibrary.org/obo/HP_0032313		
OBO:HP_0032314	Abnormal areolar morphology	biolink:OntologyClass	hp		An abnormal appearance or structure of the ring of pigmented skin that surrounds the nipple.	http://purl.obolibrary.org/obo/HP_0032314		
OBO:HP_0032315	Areolar fullness	biolink:OntologyClass	hp		The areola (ring of pigmented skin surrounding the nipple) is filled out so as to produce a rounded shape.	http://purl.obolibrary.org/obo/HP_0032315		
OBO:HP_0032316	Family history	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032316		
OBO:HP_0032317	Family history of cancer	biolink:OntologyClass	hp		A close blood relative had cancer.	http://purl.obolibrary.org/obo/HP_0032317		
OBO:HP_0032318	Family history of heart disease	biolink:OntologyClass	hp		A close blood relative had heart disease.	http://purl.obolibrary.org/obo/HP_0032318		
OBO:HP_0032319	Health status	biolink:OntologyClass	hp		Health status of a family member with respect to the disease being investigated in a proband.	http://purl.obolibrary.org/obo/HP_0032319		
OBO:HP_0032320	Affected	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0032320		
OBO:HP_0032321	Unaffected	biolink:OntologyClass	hp		This term applies to a family member in whom the diagnosis that is the primary focus of investigation is excluded.	http://purl.obolibrary.org/obo/HP_0032321		
OBO:HP_0032322	Healthy	biolink:OntologyClass	hp		No history of any serious disease, including the disease being investigated in the proband.	http://purl.obolibrary.org/obo/HP_0032322		
OBO:HP_0032323	Periodic fever	biolink:OntologyClass	hp		Episodic fever that recurs at regular intervals.	http://purl.obolibrary.org/obo/HP_0032323		
OBO:HP_0032324	Non-periodic recurrent fever	biolink:OntologyClass	hp		Episodic fever that recurs at irregular intervals.	http://purl.obolibrary.org/obo/HP_0032324		
OBO:HP_0032325	Lacunar stroke	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032325		
OBO:HP_0032326	Methicillin-resistant Staphylococcus aureus infection	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032326		MRSA infection
OBO:HP_0032327	Interhemispheric cyst	biolink:OntologyClass	hp		Cystic collection (sac-like, fluid containing pocket of membranous tissue) located in the interhemispheric fissure, with or without communication with the ventricular system.	http://purl.obolibrary.org/obo/HP_0032327		
OBO:HP_0032328	Temporomandibular joint adhesion	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032328		
OBO:HP_0032329	Increased urinary 11-deoxycortisol level	biolink:OntologyClass	hp		An abnormally elevated concentration of 11-deoxycortisol in the urine.	http://purl.obolibrary.org/obo/HP_0032329		
OBO:HP_0032330	Increased urinary 11-deoxycorticosterone level	biolink:OntologyClass	hp		An abnormally elevated concentration or amount of 11-deoxycorticosterone in the urine.	http://purl.obolibrary.org/obo/HP_0032330		
OBO:HP_0032331	Increased urinary 11-deoxytetrahydrocorticosterone level	biolink:OntologyClass	hp		An abnormally elevated concentration or amount of 11-deoxytetrahydrocorticosterone the urine.	http://purl.obolibrary.org/obo/HP_0032331		
OBO:HP_0032332	Oligoclonal elevation of circulating IgM	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032332		
OBO:HP_0032333	Polyclonal elevation of circulating IgA	biolink:OntologyClass	hp		A heterogeneous increase in IgA mmunoglobulins characterized by a diffuse band on serum electrophoresis.	http://purl.obolibrary.org/obo/HP_0032333		
OBO:HP_0032334	Oligoclonal elevation of circulating IgA	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032334		
OBO:HP_0032335	Monoclonal elevation of circulating IgA	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032335		
OBO:HP_0032336	Increased circulating specific IgE antibody	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0032336		
OBO:HP_0032337	Monoclonal elevation of circulating IgE	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032337		
OBO:HP_0032338	Oligoclonal elevation of circulating IgE	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032338		
OBO:HP_0032339	Polyclonal elevation of circulating IgE	biolink:OntologyClass	hp		A heterogeneous increase in IgE mmunoglobulins characterized by a diffuse band on serum electrophoresis.	http://purl.obolibrary.org/obo/HP_0032339		
OBO:HP_0032340	obsolete Abnormal spirometry test	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0032340		
OBO:HP_0032341	Reduced forced vital capacity	biolink:OntologyClass	hp		An abnormal reduction in the amount of air a person can expel following maximal insipiration.	http://purl.obolibrary.org/obo/HP_0032341		Reduced FVC|Decreased forced vital capacity
OBO:HP_0032342	Reduced forced expiratory volume in one second	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0032342		An abnormal reduction in the amount of air a person can forcefully expel in one second.
OBO:HP_0032344	Upslanting toenail	biolink:OntologyClass	hp		Upturned concavity of toenails.	http://purl.obolibrary.org/obo/HP_0032344		Ski-jump toenail|Upturned toenail
OBO:HP_0032345	Elevated cancer Ag 19-9 level	biolink:OntologyClass	hp		An abnormal increased in the amount of the carbohydrate antigen 19-9, a recognizable sialo-ganglioside in the blood circulation.	http://purl.obolibrary.org/obo/HP_0032345		
OBO:HP_0032346	Cutaneous lichen amyloidosis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032346		
OBO:HP_0032347	Cutaneous macular amyloidosis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032347		Macular amyloidosis
OBO:HP_0032348	Cutaneous nodular amyloidosis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032348		
OBO:HP_0032349	Serinuria	biolink:OntologyClass	hp		A increased concentration of serine in the urine.	http://purl.obolibrary.org/obo/HP_0032349		
OBO:HP_0032350	Sulfocysteinuria	biolink:OntologyClass	hp		A increased concentration of sulfocysteine in the urine.	http://purl.obolibrary.org/obo/HP_0032350		
OBO:HP_0032351	Phenylalaninuria	biolink:OntologyClass	hp		Increased level of phenylalanine in urine.	http://purl.obolibrary.org/obo/HP_0032351		Increased level of phenylalanine in urine
OBO:HP_0032352	Methioninuria	biolink:OntologyClass	hp		Increased level of methionine in urine.	http://purl.obolibrary.org/obo/HP_0032352		
OBO:HP_0032353	Leucinuria	biolink:OntologyClass	hp		Increased level of leucine in urine.	http://purl.obolibrary.org/obo/HP_0032353		
OBO:HP_0032355	Decreased peak expiratory flow	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032355		
OBO:HP_0032356	Decreased pre-bronchodilator forced vital capacity	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032356		Decreased pre bronchodilator forced vital capacity|Decreased prebronchodilator forced vital capacity
OBO:HP_0032357	Decreased post-bronchodilator forced vital capacity	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032357		Decreased post bronchodilator forced vital capacity|Decreased postbronchodilator forced vital capacity
OBO:HP_0032358	Decreased post-bronchodilator forced expiratory volume in one second	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032358		Decreased post bronchodilator forced expiratory volume in one second|Decreased postbronchodilator forced expiratory volume in one second
OBO:HP_0032359	Decreased forced expiratory flow 25-75%	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032359		Decreased FEF25-75%
OBO:HP_0032360	Decreased pre-bronchodilator forced expiratory flow 25-75%	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032360		Decreased pre-bronchodilator FEF25-75%|Decreased pre bronchodilator forced expiratory flow 25-75%|Decreased prebronchodilator forced expiratory flow 25-75%
OBO:HP_0032361	Decreased post-bronchodilator forced expiratory flow 25-75%	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032361		Decreased post-bronchodilator FEF25-75%|Decreased post bronchodilator forced expiratory flow 25-75%|Decreased postbronchodilator forced expiratory flow 25-75%
OBO:HP_0032362	Increased circulating corticosterone level	biolink:OntologyClass	hp		An abnormally elevated concentration of corticosterone in the blood.	http://purl.obolibrary.org/obo/HP_0032362		
OBO:HP_0032363	Decreased circulating corticosterone level	biolink:OntologyClass	hp		An abnormally reduced concentration of corticosterone in the blood.	http://purl.obolibrary.org/obo/HP_0032363		
OBO:HP_0032364	obsolete Abnormal CSF amino acid level	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0032364		
OBO:HP_0032365	Exacerbated by aspirin ingestion	biolink:OntologyClass	hp		Applied to a sign or symptom that is worsened by ingestion of aspirin.	http://purl.obolibrary.org/obo/HP_0032365		
OBO:HP_0032366	Positive direct antiglobulin test	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032366		
OBO:HP_0032367	Abnormal growth hormone level	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032367		Abnormal somatotropin level
OBO:HP_0032368	Acidemia	biolink:OntologyClass	hp		An abnormally low blood pH (usually defined as less than 7.35).	http://purl.obolibrary.org/obo/HP_0032368		
OBO:HP_0032369	Alkalemia	biolink:OntologyClass	hp		An abnormally high blood pH (usually defined as 7.41 or above).	http://purl.obolibrary.org/obo/HP_0032369		
OBO:HP_0032370	Blood group A	biolink:OntologyClass	hp		ABO phenotype A, corresponding to the genotype AO or AA.	http://purl.obolibrary.org/obo/HP_0032370		
OBO:HP_0032371	Isoleucinuria	biolink:OntologyClass	hp		An increased concentration of isoleucine in the urine.	http://purl.obolibrary.org/obo/HP_0032371		Hyperisoleucinuria
OBO:HP_0032372	Increased peripheral blast count	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032372		Elevated blast count|Elevated circulating blasts|Increased peripheral myeloblast count
OBO:HP_0032373	Duffy blood group	biolink:OntologyClass	hp		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-.	http://purl.obolibrary.org/obo/HP_0032373		
OBO:HP_0032374	Duffy Fya positivity	biolink:OntologyClass	hp		Presence of the Duffy Fya antigen.	http://purl.obolibrary.org/obo/HP_0032374		
OBO:HP_0032375	Duffy Fyb positivity	biolink:OntologyClass	hp		Presence of the Duffy Fyb antigen.	http://purl.obolibrary.org/obo/HP_0032375		
OBO:HP_0032376	Anti-beta 2 glycoprotein I antibody positivity	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0032376		Anti-B2GPI positivity
OBO:HP_0032377	Increased urinary orosomucoid	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032377		Increased urinary alpha-1-acid glycoprotein
OBO:HP_0032378	Immediate-type hypersensitivity drug reaction	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032378		
OBO:HP_0032379	Polymorphous light eruption	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032379		Sun allergy
OBO:HP_0032381	Hydroa vacciniforme	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032381		Acute vesiculation and crusting and scarring following sun exposure
OBO:HP_0032382	Uniparental disomy	biolink:OntologyClass	hp		Inheritance of both homologues of a chromosome pair from the same parent.	http://purl.obolibrary.org/obo/HP_0032382		
OBO:HP_0032383	Uniparental heterodisomy	biolink:OntologyClass	hp		A type of uniparental disomy in which the two different chromosomes (or chromosome segments) of the same parent are transmitted.	http://purl.obolibrary.org/obo/HP_0032383		
OBO:HP_0032384	Uniparental isodisomy	biolink:OntologyClass	hp		A type of uniparental disomy in which the two identical chromosomes (or chromosome segments) of the same parent are transmitted.	http://purl.obolibrary.org/obo/HP_0032384		
OBO:HP_0032385	Abnormal circulating transferrin concentration	biolink:OntologyClass	hp		Any deviation from the normal concentration of transferrin in the blood circulation.	http://purl.obolibrary.org/obo/HP_0032385		Abnormal circulating transferrin level
OBO:HP_0032386	Elevated circulating transferrin concentration	biolink:OntologyClass	hp		An abnormally increased concentration of transferrin in the blood circulation.	http://purl.obolibrary.org/obo/HP_0032386		Elevated transferrin level
OBO:HP_0032387	Reduced circulating transferrin concentration	biolink:OntologyClass	hp		An abnormally decreased concentration of transferrin in the blood circulation.	http://purl.obolibrary.org/obo/HP_0032387		Reduced transferrin level
OBO:HP_0032388	Periventricular nodular heterotopia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032388		
OBO:HP_0032389	Periventricular laminar heterotopia	biolink:OntologyClass	hp		A large mass of heterotopia in a laminar configuration along the ventricular walls. Usually bilateral.	http://purl.obolibrary.org/obo/HP_0032389		
OBO:HP_0032390	Periventricular ribbonlike heterotopia	biolink:OntologyClass	hp		Heterotopia that forms a continuous wavy line along the ventricular wall.	http://purl.obolibrary.org/obo/HP_0032390		
OBO:HP_0032391	Subcortical heterotopia	biolink:OntologyClass	hp		A form of heterotopia were the mislocalized gray matter is located deep within the white matter.	http://purl.obolibrary.org/obo/HP_0032391		
OBO:HP_0032392	Nodular subcortical heterotopia in peritrigonal regions	biolink:OntologyClass	hp		Solid nodular heterotopia situated in the region of the peritrigonal optic pathway posterior to the deep gray nuclei.	http://purl.obolibrary.org/obo/HP_0032392		
OBO:HP_0032393	Diffuse ribbon-like subcortical heterotopia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032393		
OBO:HP_0032394	Mesial parasagittal subcortical heterotopia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032394		
OBO:HP_0032395	Curvilinear subcortical heterotopia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032395		Giant heterotopia
OBO:HP_0032396	Transmantle columnar heterotopia	biolink:OntologyClass	hp		Linear heterotopia spanning from the cerebral mantle from the pia to the ependyma.	http://purl.obolibrary.org/obo/HP_0032396		
OBO:HP_0032397	Citrullinuria	biolink:OntologyClass	hp		An increased concentration of citrulline in the urine.	http://purl.obolibrary.org/obo/HP_0032397		
OBO:HP_0032398	Dysgyria	biolink:OntologyClass	hp		An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation.	http://purl.obolibrary.org/obo/HP_0032398		
OBO:HP_0032399	Dysgyria with normal cortical thickness	biolink:OntologyClass	hp		An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation but with a normal thickness of the cortex.	http://purl.obolibrary.org/obo/HP_0032399		
OBO:HP_0032400	Dysgyria with thickened cortex	biolink:OntologyClass	hp		An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation and a thickened cortex intermediate between pachygyria and polymicrogyria.	http://purl.obolibrary.org/obo/HP_0032400		
OBO:HP_0032401	Aspartic aciduria	biolink:OntologyClass	hp		A increased concentration of aspartic acid in the urine.	http://purl.obolibrary.org/obo/HP_0032401		
OBO:HP_0032403	Asparaginuria	biolink:OntologyClass	hp		An increased concentration of asparagine in the urine.	http://purl.obolibrary.org/obo/HP_0032403		Increased level of asparagine in urine|Increased urine asparagine level
OBO:HP_0032404	Testicular mass	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032404		
OBO:HP_0032405	Increased urinary phosphoserine level	biolink:OntologyClass	hp		An increased level of phosphoserine in the urine.	http://purl.obolibrary.org/obo/HP_0032405		Increased level of phosphoserine in urine
OBO:HP_0032406	Unilateral perisylvian polymicrogyria	biolink:OntologyClass	hp		A type of perisylvian polymicrogyria that largely affects one side of the brain.	http://purl.obolibrary.org/obo/HP_0032406		
OBO:HP_0032407	Bilateral perisylvian polymicrogyria	biolink:OntologyClass	hp		A type of perisylvian polymicrogyria that affects both sides of the brain.	http://purl.obolibrary.org/obo/HP_0032407		
OBO:HP_0032408	Breast mass	biolink:OntologyClass	hp		A breast lump is any discrete mass in a breast noticed by the patient, significant other, or physician.	http://purl.obolibrary.org/obo/HP_0032408		Breast lump
OBO:HP_0032409	Subcortical band heterotopia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032409		
OBO:HP_0032410	Bilateral generalized polymicrogyria	biolink:OntologyClass	hp		Symmetric generalized polymicrogyria with no obvious gradient or region of maximal severity; may have abnormal high signal in white matter.	http://purl.obolibrary.org/obo/HP_0032410		Bilateral generalised polymicrogyria|Diffuse polymicrogyria
OBO:HP_0032411	Posterior predominant subcortical band heterotopia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032411		Occipital subcortical band heterotopia|Subcortical band heterotopia posterior predominant
OBO:HP_0032412	Anterior predominant subcortical band heterotopia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032412		Frontal subcortical band heterotopia|Subcortical band heterotopia anterior predominant
OBO:HP_0032413	Diffuse subcortical band heterotopia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032413		Subcortical band heterotopia diffuse
OBO:HP_0032414	Hydroxylysinuria	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032414		
OBO:HP_0032415	Parasagittal parieto-occipital polymicrogyria	biolink:OntologyClass	hp		Polymicrogyria in parasagittal and mesial aspects of parieto-occipital cortex.	http://purl.obolibrary.org/obo/HP_0032415		
OBO:HP_0032416	Retinal microaneurysm	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032416		
OBO:HP_0032417	Periglomerular fibrosis	biolink:OntologyClass	hp	PMID:32866505	Circumferential fibrosis in the interstitium surrounding Bowman's capsule	http://purl.obolibrary.org/obo/HP_0032417		Periglomerular fibrotic thickening
OBO:HP_0032418	Abnormal HDL subfraction concentration	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0032418		
OBO:HP_0032419	Abnormal HDL2a concentration	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032419		
OBO:HP_0032420	Increased HDL2a concentration	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032420		
OBO:HP_0032421	Decreased HDL2a concentration	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032421		
OBO:HP_0032422	Abnormal HDL2b concentration	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032422		
OBO:HP_0032423	Decreased HDL2b concentration	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032423		
OBO:HP_0032424	Increased HDL2b concentration	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032424		
OBO:HP_0032425	Abnormal HDL3a concentration	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032425		
OBO:HP_0032426	Abnormal HDL3b concentration	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032426		
OBO:HP_0032427	Abnormal HDL3c concentration	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032427		
OBO:HP_0032428	Increased HDL3a concentration	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032428		
OBO:HP_0032429	Decreased HDL3a concentration	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032429		
OBO:HP_0032430	Increased HDL3b concentration	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032430		
OBO:HP_0032431	Decreased HDL3b concentration	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032431		
OBO:HP_0032432	Increased HDL3c concentration	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032432		
OBO:HP_0032433	Decreased HDL3c concentration	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032433		
OBO:HP_0032434	Delayed umbilical cord separation	biolink:OntologyClass	hp		Separation of the umbilical cord occurs at an abnormally late timepoint.	http://purl.obolibrary.org/obo/HP_0032434		
OBO:HP_0032435	Neonatal omphalitis	biolink:OntologyClass	hp		An infection of the umbilicus and/or surrounding tissues occurring in the neonatal period.	http://purl.obolibrary.org/obo/HP_0032435		Omphalitis
OBO:HP_0032436	Abnormal C-reactive protein level	biolink:OntologyClass	hp		Any deviation from the normal concentration of C-reactive protein in the blood circulation.	http://purl.obolibrary.org/obo/HP_0032436		
OBO:HP_0032437	Reduced C-reactive protein level	biolink:OntologyClass	hp		An abnormal decrease of the C-reactive protein level in serum.	http://purl.obolibrary.org/obo/HP_0032437		
OBO:HP_0032438	Platelet anisocytosis	biolink:OntologyClass	hp		Abnormally increased variability in the size of platelets.	http://purl.obolibrary.org/obo/HP_0032438		
OBO:HP_0032439	Airborn particle hypersensitivity	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032439		
OBO:HP_0032440	Blood group B	biolink:OntologyClass	hp		ABO phenotype B, corresponding to the genotype BO or BB.	http://purl.obolibrary.org/obo/HP_0032440		
OBO:HP_0032441	Blood group AB	biolink:OntologyClass	hp		ABO phenotype AB, corresponding to the genotype AB.	http://purl.obolibrary.org/obo/HP_0032441		
OBO:HP_0032442	Blood group O	biolink:OntologyClass	hp		ABO phenotype O, corresponding to the genotype OO.	http://purl.obolibrary.org/obo/HP_0032442		
OBO:HP_0032443	Past medical history	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032443		
OBO:HP_0032444	Status post organ transplantation	biolink:OntologyClass	hp		The affected individual has received an organ transplant previous to the current medical encounter.	http://purl.obolibrary.org/obo/HP_0032444		s/p organ transplantation
OBO:HP_0032445	Pulmonary cyst	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032445		Lung cyst
OBO:HP_0032446	Pulmonary bulla	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032446		Pulmonary bullae
OBO:HP_0032447	Pulmonary bleb	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032447		
OBO:HP_0032448	Achlorhydria	biolink:OntologyClass	hp		A condition in which production of hydrochloric acid in the stomach is absent.	http://purl.obolibrary.org/obo/HP_0032448		
OBO:HP_0032449	Abnormal dermoepidermal hemidesmosome morphology	biolink:OntologyClass	hp		An abnormal structure or appearance of hemidesmosomes, multiprotein complexes that facilitate the stable adhesion of basal epithelial cells to the underlying basement membrane.	http://purl.obolibrary.org/obo/HP_0032449		
OBO:HP_0032450	Positive blood arsenic test	biolink:OntologyClass	hp		Detection of arsenic in the blood circulation.	http://purl.obolibrary.org/obo/HP_0032450		
OBO:HP_0032451	Oral melanotic macule	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032451		Melanotic macule of oral mucosa
OBO:HP_0032452	Oral melanoacanthoma	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032452		
OBO:HP_0032453	Abnormal lip pigmentation	biolink:OntologyClass	hp		Abnormal coloring of the lip, whereby the lip discolored, blotchy, or darker or lighter than normal.	http://purl.obolibrary.org/obo/HP_0032453		
OBO:HP_0032454	Labial melanotic macule	biolink:OntologyClass	hp		Flat, distinct, discolored area on the lip less than 1 cm wide not associated with a change in the thickness or texture.	http://purl.obolibrary.org/obo/HP_0032454		Labial melanotic freckle
OBO:HP_0032455	Reduced granulocyte CD18 level	biolink:OntologyClass	hp		Reduced level of CD18 on the granulocyte surface. This feature can be assessed by flow cytometry.	http://purl.obolibrary.org/obo/HP_0032455		
OBO:HP_0032456	Unlayered lissencephaly	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032456		
OBO:HP_0032457	2-3-layered lissencephaly	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032457		
OBO:HP_0032458	Narrowing of medullary canal	biolink:OntologyClass	hp		A reduction in diameter and volume of the central cavity of bone where red or yellow bone marrow is located.	http://purl.obolibrary.org/obo/HP_0032458		Medullary cavity obliteration|Narrowing of bone marrow canal|Narrowing of bone medullary canal|Narrowing of the marrow cavity
OBO:HP_0032459	Abnormal phosphoribosylpyrophosphate synthetase level	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032459		
OBO:HP_0032460	Decreased phosphoribosylpyrophosphate synthetase level	biolink:OntologyClass	hp		Abnormally reduced level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate.	http://purl.obolibrary.org/obo/HP_0032460		
OBO:HP_0032461	obsolete Tiger-tail banding	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0032461		
OBO:HP_0032462	Increased circulating palmitate level	biolink:OntologyClass	hp		An elevation beyond the normal concentration of palmitate (palmitic acid) in the blood circulation.	http://purl.obolibrary.org/obo/HP_0032462		
OBO:HP_0032463	Reduced circulating fibronectin level	biolink:OntologyClass	hp		A reduction below the normal concentration of fibronectin the the blood circulation.	http://purl.obolibrary.org/obo/HP_0032463		Decreased plasma fibronectin
OBO:HP_0032464	Ureteral hypoplasia	biolink:OntologyClass	hp		Underdevelopment of the ureter.	http://purl.obolibrary.org/obo/HP_0032464		Hypoplasia of the ureter|Ureter hypoplasia
OBO:HP_0032465	Bladder trabeculation	biolink:OntologyClass	hp		Muscular projections that protrude into the lumen of the bladder, criss-crossing the walls of the bladder on its inner surface.	http://purl.obolibrary.org/obo/HP_0032465		Trabecular bladder
OBO:HP_0032466	Aplasia of the olfactory bulb	biolink:OntologyClass	hp		Lack of formation (congenital absence) of the olfactory bulb.	http://purl.obolibrary.org/obo/HP_0032466		Aplastic olfactory bulb|Olfactory bulb aplasia
OBO:HP_0032467	Past obstetric history	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032467		Maternal medical history
OBO:HP_0032468	History of stillbirth	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0032468		
OBO:HP_0032469	Anti-asialoglycoprotein receptor antibody positivity	biolink:OntologyClass	hp		Presence of autoantibodies against the asialoglycoprotein receptor (ASGPR) in the blood circulation.	http://purl.obolibrary.org/obo/HP_0032469		
OBO:HP_0032470	Monilethrix	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032470		
OBO:HP_0032471	Focal polymicrogyria	biolink:OntologyClass	hp		Polymicrogyria affecting one or multiple small areas of the cerebral cortex.	http://purl.obolibrary.org/obo/HP_0032471		
OBO:HP_0032472	Abnormal urine urobilinogen level	biolink:OntologyClass	hp		An abnormal concentration of urobilinogen in the urine.	http://purl.obolibrary.org/obo/HP_0032472		
OBO:HP_0032473	Decreased urine urobilinogen	biolink:OntologyClass	hp		An abnormally reduced concentration of urobilinogen in the urine.	http://purl.obolibrary.org/obo/HP_0032473		
OBO:HP_0032475	6-layered lissencephaly	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0032475		
OBO:HP_0032476	Abnormal circulating vitamin B6 level	biolink:OntologyClass	hp		An abnormal concentration of vitamin B6 in the blood circulation.	http://purl.obolibrary.org/obo/HP_0032476		
OBO:HP_0032477	Elevated circulating vitamin B6 level	biolink:OntologyClass	hp		An abnormally increased concentration of vitamin B6 in the blood circulation.	http://purl.obolibrary.org/obo/HP_0032477		
OBO:HP_0032478	Lateral spinal meningocele	biolink:OntologyClass	hp		Protrusion of the arachnoid and dura through spinal foramina.	http://purl.obolibrary.org/obo/HP_0032478		
OBO:HP_0032479	Preimplantation lethality	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032479		Preimplantation embryonic lethality
OBO:HP_0032480	Beta-aminoisobutyric aciduria	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032480		
OBO:HP_0032481	Abnormal pituitary glycoprotein hormone alpha subunit level	biolink:OntologyClass	hp		Any deviation from the normal concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081).	http://purl.obolibrary.org/obo/HP_0032481		
OBO:HP_0032482	Decreased pituitary glycoprotein hormone alpha subunit level	biolink:OntologyClass	hp		An reduced concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081).	http://purl.obolibrary.org/obo/HP_0032482		Decreased pituitary glycoprotein alpha subunit level|Decreased pituitary glycoprotein polypeptide alpha subunit level
OBO:HP_0032483	Abnormal fecal test result	biolink:OntologyClass	hp		Abnormal level of metabolite or other abnormal analyte result in a stool test.	http://purl.obolibrary.org/obo/HP_0032483		Abnormal faecal test result
OBO:HP_0032484	Elevated fecal sodium	biolink:OntologyClass	hp		An elevated concentration of sodium in feces.	http://purl.obolibrary.org/obo/HP_0032484		Elevated faecal sodium
OBO:HP_0032485	Abnormal fecal osmolality	biolink:OntologyClass	hp		Abnormal concentration of feces as assessed by the total number of solute particles per kilogram.	http://purl.obolibrary.org/obo/HP_0032485		Abnormal faecal osmolality
OBO:HP_0032486	Elevated fecal osmolality	biolink:OntologyClass	hp		Abnormally high concentration of feces as assessed by the total number of solute particles per kilogram.	http://purl.obolibrary.org/obo/HP_0032486		Elevated faecal osmolality
OBO:HP_0032487	Reduced fecal osmolality	biolink:OntologyClass	hp		Abnormally low concentration of feces as assessed by the total number of solute particles per kilogram.	http://purl.obolibrary.org/obo/HP_0032487		Reduced faecal osmolality
OBO:HP_0032488	Abnormal fecal pH	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032488		Abnormal faecal pH
OBO:HP_0032489	Elevated fecal pH	biolink:OntologyClass	hp		Abnormally high fecal pH, i.e., abnormal alkalinity of feces.	http://purl.obolibrary.org/obo/HP_0032489		Elevated faecal pH
OBO:HP_0032490	Decreased fecal pH	biolink:OntologyClass	hp		Abnormally low fecal pH, i.e., abnormal acidity of feces.	http://purl.obolibrary.org/obo/HP_0032490		Decreased faecal pH
OBO:HP_0032491	Increased circulating argininosuccinic acid	biolink:OntologyClass	hp		An increased level of the non-proteinogenic amino acid argininosuccinic acid in the blood circulation.	http://purl.obolibrary.org/obo/HP_0032491		
OBO:HP_0032492	Anti-myelin oligodendrocyte glycoprotein antibody positivity	biolink:OntologyClass	hp		Presence of antibodies in the serum that react against myelin oligodendrocyte glycoprotein.	http://purl.obolibrary.org/obo/HP_0032492		Anti-MOG antibody positivity
OBO:HP_0032493	Increased circulating trypsinogen	biolink:OntologyClass	hp		An abnormally high concentration of trypsinogen in the blood circulation.	http://purl.obolibrary.org/obo/HP_0032493		Increased immunoreactive trypsinogen
OBO:HP_0032495	Abnormal terminal:vellus ratio	biolink:OntologyClass	hp		A deviation from the normal proportion of terminal to vellus hairs.	http://purl.obolibrary.org/obo/HP_0032495		
OBO:HP_0032496	Elevated terminal:vellus ratio	biolink:OntologyClass	hp		An increased proportion of terminal hairs compared to vellus hairs.	http://purl.obolibrary.org/obo/HP_0032496		
OBO:HP_0032497	Reduced terminal:vellus ratio	biolink:OntologyClass	hp		A terminal:vellus ratio under 4:1 is characteristic of androgenetic alopecia.	http://purl.obolibrary.org/obo/HP_0032497		
OBO:HP_0032499	Giant neutrophil granules	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032499		
OBO:HP_0032500	Exacerbated by tobacco use	biolink:OntologyClass	hp		Applied to a sign or symptom that is worsened by smoking tobacco products.	http://purl.obolibrary.org/obo/HP_0032500		Aggravated by tobacco use|Exacerbated by smoking|Smoking or tobacco use exacerbates symptoms
OBO:HP_0032501	Exacerbated by contraceptive medication	biolink:OntologyClass	hp		Applied to a sign or symptom that is worsened by taking contraceptive medication.	http://purl.obolibrary.org/obo/HP_0032501		Contraceptive pills aggravate symptoms
OBO:HP_0032502	Exacerbated by barbiturate medication	biolink:OntologyClass	hp		Applied to a sign or symptom that is worsened by taking barbituates.	http://purl.obolibrary.org/obo/HP_0032502		Barbiturates produce worsening
OBO:HP_0032503	Ameliorated by ethanol ingestion	biolink:OntologyClass	hp		Applies to a sign or symptom that is improved or made more bearable by drinking alcohol (ethanol).	http://purl.obolibrary.org/obo/HP_0032503		Ethanol reduces manifestations
OBO:HP_0032504	Lhermitte's sign	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032504		Barber chair phenomenon|Lhermitte's phenomenon
OBO:HP_0032505	Hydrophobia	biolink:OntologyClass	hp		Pharyngeal spasms provoked by an attempt to drink.	http://purl.obolibrary.org/obo/HP_0032505		
OBO:HP_0032506	Alien limb phenomenon	biolink:OntologyClass	hp		Alien limb phenomenon refers to involuntary motor activity of a limb in conjunction with the feeling of estrangement from that limb.	http://purl.obolibrary.org/obo/HP_0032506		
OBO:HP_0032507	Labiomental fasciculations	biolink:OntologyClass	hp		Fasciculations affecting the tongue muscle and the musculature of the chin.	http://purl.obolibrary.org/obo/HP_0032507		Fasciculations, labiomental
OBO:HP_0032508	Polyembolokoilamania	biolink:OntologyClass	hp		Habitual insertion of foreign bodies into bodily orifices.	http://purl.obolibrary.org/obo/HP_0032508		
OBO:HP_0032509	Onychotillomania	biolink:OntologyClass	hp		Onychotillomania is characterized by the compulsive or irresistible urge in patients to pick at, pull off, or harmfully bite or chew their nails.	http://purl.obolibrary.org/obo/HP_0032509		
OBO:HP_0032510	Tendon pain	biolink:OntologyClass	hp		An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to a tendon.	http://purl.obolibrary.org/obo/HP_0032510		
OBO:HP_0032511	Superiorly positioned umbilicus	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0032511		The position of the umbilicus (belly button) is abnormally high (superior).
OBO:HP_0032513	Four-vessel umbilical cord	biolink:OntologyClass	hp		Four-vessel umbilical cord containing two arteries and two veins.	http://purl.obolibrary.org/obo/HP_0032513		
OBO:HP_0032514	Duplicated lacrimal punctum	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032514		Double lacrimal puncta|Lacrimal punctum, duplication
OBO:HP_0032515	Deep dermatophytosis	biolink:OntologyClass	hp		A type of invasive dermatophyte infection of the deep dermis characterized by extensive dermal infiltration by fungal elements.	http://purl.obolibrary.org/obo/HP_0032515		
OBO:HP_0032516	Invasive dermatophyte infection	biolink:OntologyClass	hp		Infection that extends deeply into the dermins by dermatophytes, fungi that typically cause different types of superficial infection (tinea) or skin, hair, or nails.	http://purl.obolibrary.org/obo/HP_0032516		
OBO:HP_0032517	Majocchi's granuloma	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032517		
OBO:HP_0032518	Disseminated dermatophytosis	biolink:OntologyClass	hp		A type of invasive dermatophyte infection characterized by vascular involvement and dissemination to other organs.	http://purl.obolibrary.org/obo/HP_0032518		
OBO:HP_0032519	Increased Burr cell count	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032519		
OBO:HP_0032520	Masseter muscular weakness	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032520		
OBO:HP_0032521	Self hugging	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032521		Spasmodic upper-body squeeze
OBO:HP_0032522	Ameliorated by immunosuppresion	biolink:OntologyClass	hp		Applies to a sign or symptom that is improved or made more bearable by treatment with immunosuppresive medication.	http://purl.obolibrary.org/obo/HP_0032522		Immunosupressive therapy improves condition
OBO:HP_0032523	Tendon thickening	biolink:OntologyClass	hp		An abnormal increase in the thickness (diameter) of a tendon.	http://purl.obolibrary.org/obo/HP_0032523		
OBO:HP_0032524	Long thumb	biolink:OntologyClass	hp		Length of the thumb is greater than normal.	http://purl.obolibrary.org/obo/HP_0032524		
OBO:HP_0032525	Aggravated by acetylcholinesterase inhibitor	biolink:OntologyClass	hp		Applied to a sign or symptom that is worsened by treatment with an acetylcholinesterase inhibitor such as tensilon (edrophonium) or pyridostigmine (Mestinon).	http://purl.obolibrary.org/obo/HP_0032525		
OBO:HP_0032526	Ameliorated by acetylcholinesterase inhibitor	biolink:OntologyClass	hp		Applies to a sign or symptom that is improved or made more bearable by an acetylcholinesterase inhibitor such as mestinon or tensilon.	http://purl.obolibrary.org/obo/HP_0032526		
OBO:HP_0032527	Inferiorly positioned umbilicus	biolink:OntologyClass	hp		The position of the umbilicus (belly button) is abnormally low (inferior).	http://purl.obolibrary.org/obo/HP_0032527		Low set umbilicus|Low-set umbilicus
OBO:HP_0032528	Elevated urinary 4-hydroxybutyric acid	biolink:OntologyClass	hp		An increased amount of 4-hydroxybutyric acid in the urine.	http://purl.obolibrary.org/obo/HP_0032528		
OBO:HP_0032529	Elevated circulating gamma-aminobutyric acid concentration	biolink:OntologyClass	hp		An increased concentration of gamma-aminobutyric acid (GABA) in the blood circulation.	http://purl.obolibrary.org/obo/HP_0032529		Elevated circulating GABA concentration
OBO:HP_0032530	Decreased succinic semialdehyde dehydrogenase level	biolink:OntologyClass	hp		Reduced level of succinic semialdehyde dehydrogenase (SSADH).	http://purl.obolibrary.org/obo/HP_0032530		
OBO:HP_0032531	Elevated CSF gamma-aminobutyric acid concentration	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0032531		
OBO:HP_0032532	Elevated CSF 4-hydroxybutyric acid concentration	biolink:OntologyClass	hp		Abnormally increased level of 4-hydroxybutyric acid in the cerebrospinal fluid (CSF).	http://purl.obolibrary.org/obo/HP_0032532		Elevated CSF GHB levels|Elevated CSF gamma-hydroxybutyric acid
OBO:HP_0032533	Elevated circulating acetone concentration	biolink:OntologyClass	hp		An increased level of acetone in the blood circulation. Acetone is one of the predominant ketone bodies.	http://purl.obolibrary.org/obo/HP_0032533		
OBO:HP_0032534	Exacerbated by methylxanthine ingestion	biolink:OntologyClass	hp		Applied to a sign or symptom that is worsened by ingestion of food containing a methylxanthine compound (for instance, coffee, caffeine, chocolate).	http://purl.obolibrary.org/obo/HP_0032534		Methylxanthines produce worsening
OBO:HP_0032535	Cervical (neck)	biolink:OntologyClass	hp		Applies to an abnormality that is situated in the neck.	http://purl.obolibrary.org/obo/HP_0032535		
OBO:HP_0032536	Increased number of lymph nodes	biolink:OntologyClass	hp		An abnormally elevated number of lymph nodes in an anatomical region.	http://purl.obolibrary.org/obo/HP_0032536		
OBO:HP_0032537	Delayed fracture healing	biolink:OntologyClass	hp		A delay in healing of a fracture past the expected duration.	http://purl.obolibrary.org/obo/HP_0032537		
OBO:HP_0032538	Pretibial dimple	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032538		
OBO:HP_0032539	Joint extensor surface localization	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032539		
OBO:HP_0032540	Joint flexor surface localization	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0032540		
OBO:HP_0032541	Knuckle pad	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032541		Knuckle pads on dorsal aspect of finger joints
OBO:HP_0032542	Exacerbated by pregnancy	biolink:OntologyClass	hp		Applied to a sign or symptom that is worsened by being pregnant.	http://purl.obolibrary.org/obo/HP_0032542		
OBO:HP_0032543	Lithoptysis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032543		
OBO:HP_0032544	Predominant small joint localization	biolink:OntologyClass	hp		Applies to an abnormality that mainly affects the small joints, including fingers, toes, interphalangeal, metacarpophalangeal, metatarsophalangeal, wrists, ankles, vertebrae, and neck.	http://purl.obolibrary.org/obo/HP_0032544		
OBO:HP_0032545	Abdominal rigidity	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032545		Rigid abdomen
OBO:HP_0032546	Abdominal guarding	biolink:OntologyClass	hp		A voluntary contraction of the abdominal wall musculature to avoid pain.	http://purl.obolibrary.org/obo/HP_0032546		
OBO:HP_0032547	Low intraocular pressure	biolink:OntologyClass	hp		An abnormal decrease of the pressure within the eye.	http://purl.obolibrary.org/obo/HP_0032547		Ocular hypotony
OBO:HP_0032548	Increased placental thickness	biolink:OntologyClass	hp		Abnormally elevated placental thickness.	http://purl.obolibrary.org/obo/HP_0032548		Placental thickness increased
OBO:HP_0032549	Persistent asymmetrical tonic neck reflex	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032549		Persistent fencer's reflex|Tonic neck reflex asymmetrical and persistent
OBO:HP_0032550	Howell-Jolly bodies	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032550		
OBO:HP_0032551	Hemorrhoids	biolink:OntologyClass	hp		Enlarged, bulging blood vessels in and around the anus often associated with rectal bleeding, itching, and pain.	http://purl.obolibrary.org/obo/HP_0032551		Haemorrhoids|Piles
OBO:HP_0032552	Abnormal pulse	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032552		
OBO:HP_0032553	Weak pulse	biolink:OntologyClass	hp		A diminution in the amplitude (strength) of the pulse such that the examiner has difficulty feeling the pulse.	http://purl.obolibrary.org/obo/HP_0032553		
OBO:HP_0032554	Absent pulse	biolink:OntologyClass	hp		The pulsation of an artery where the pulse is taken (e.g. the radial artery at the wrist) cannot be detected on physical examination.	http://purl.obolibrary.org/obo/HP_0032554		
OBO:HP_0032555	Bounding pulse	biolink:OntologyClass	hp		Increased amplitude (strength) of the pulse.	http://purl.obolibrary.org/obo/HP_0032555		
OBO:HP_0032556	Circumoral cyanosis	biolink:OntologyClass	hp		Persistent blue color of the skin that surrounds the mouth.	http://purl.obolibrary.org/obo/HP_0032556		Bluish lips
OBO:HP_0032557	History of bone marrow transplant	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032557		Status post hematopoietic stem cell transplantation
OBO:HP_0032558	Absent sperm flagella	biolink:OntologyClass	hp		Sperm cells lacking flagella.	http://purl.obolibrary.org/obo/HP_0032558		
OBO:HP_0032559	Short sperm flagella	biolink:OntologyClass	hp		Sperm cells with abnormally short flagella.	http://purl.obolibrary.org/obo/HP_0032559		
OBO:HP_0032560	Coiled sperm flagella	biolink:OntologyClass	hp		Sperm cells whose flagella are twisted (coiled).	http://purl.obolibrary.org/obo/HP_0032560		
OBO:HP_0032561	Microcephalic sperm head	biolink:OntologyClass	hp		Decreased size of the head of sperm.	http://purl.obolibrary.org/obo/HP_0032561		Small-head sperm
OBO:HP_0032562	Tapered sperm head	biolink:OntologyClass	hp		Sperm with cigar-shaped heads that gradually dimish in diameter (taper).	http://purl.obolibrary.org/obo/HP_0032562		
OBO:HP_0032563	Dacryocytosis	biolink:OntologyClass	hp		Presence of teardrop-shaped red blood cells.	http://purl.obolibrary.org/obo/HP_0032563		Dacryocytes|Tear-drop shaped erythrocytes
OBO:HP_0032564	Ileitis	biolink:OntologyClass	hp		Inflammation of the ileum.	http://purl.obolibrary.org/obo/HP_0032564		Inflammation of the ileum
OBO:HP_0032565	Vaginal mucosal ulceration	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0032565		
OBO:HP_0032566	Oval macrocytosis	biolink:OntologyClass	hp		Enlarged, oval-shaped erythrocytes (red blood cells).	http://purl.obolibrary.org/obo/HP_0032566		
OBO:HP_0032567	Lipiduria	biolink:OntologyClass	hp		An increased lipid content in the urine.	http://purl.obolibrary.org/obo/HP_0032567		Urinary lipid excretion
OBO:HP_0032568	Urinary mulberry cells	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032568		
OBO:HP_0032569	Temporal bossing	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0032569		
OBO:HP_0032570	Pontine ischemic lacunes	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032570		Pontine ischaemic lacunes
OBO:HP_0032571	Increased oocyte death	biolink:OntologyClass	hp		An increase in death of oocytes, the female germ cell (egg cell), which can be observed clinically in the setting of in vitro fertilization.	http://purl.obolibrary.org/obo/HP_0032571		
OBO:HP_0032572	Abnormal urinary nucleobase concentration	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0032572		
OBO:HP_0032573	Elevated urinary cytidine	biolink:OntologyClass	hp		Increased levels of urinary cytidine, a pyrimidine nucleoside in which cytosine is attached to ribofuranose via a beta-N1 glycosidic bond.	http://purl.obolibrary.org/obo/HP_0032573		
OBO:HP_0032574	Elevated uridine in urine	biolink:OntologyClass	hp		Increased levels of urinary uridine, a ribonucleoside composed of a molecule of uracil attached to a ribofuranose moiety via a beta-N1 glycosidic bond.	http://purl.obolibrary.org/obo/HP_0032574		Elevated uridine in urine
OBO:HP_0032575	Decreased circulating 12-HETE	biolink:OntologyClass	hp		A reduction in the concentration of 12-HETE in the blood circulation, a metabolite of arachidonic acid.	http://purl.obolibrary.org/obo/HP_0032575		Decreased circulating 12-Hydroxyeicosatetraenoic acid concentration
OBO:HP_0032576	Intracellular accumulation of Dol-PP-GlcNAc2Man5	biolink:OntologyClass	hp		Intracellular accumulation of the lipid-linked oligosaccharide intermediate Man5GlcNAc2-PP-dolichol.	http://purl.obolibrary.org/obo/HP_0032576		
OBO:HP_0032577	Clonal T cell receptor rearrangement	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032577		
OBO:HP_0032578	Third ventricle colloid cyst	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032578		
OBO:HP_0032579	Vascular hamartoma	biolink:OntologyClass	hp		A benign focal growth composed of vascular tissue.	http://purl.obolibrary.org/obo/HP_0032579		
OBO:HP_0032580	Abnormal bulbus cordis morphology	biolink:OntologyClass	hp		Abnormal structure of the bulbus cordis, which is the single outflow tract of the heart during early embryogenesis.	http://purl.obolibrary.org/obo/HP_0032580		
OBO:HP_0032581	Abnormal renal insterstitial morphology	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032581		
OBO:HP_0032582	Renal interstitial foam cells	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032582		
OBO:HP_0032583	Renal glomerular foam cells	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0032583		
OBO:HP_0032584	Renal interstitial neutrophil infiltration	biolink:OntologyClass	hp		Increased numbers of neutrophils in the interstitial tissues of the kidney.	http://purl.obolibrary.org/obo/HP_0032584		
OBO:HP_0032585	Renal interstitial eosinophil infiltration	biolink:OntologyClass	hp		Increased numbers of eosinophils in the interstitial tissues of the kidney.	http://purl.obolibrary.org/obo/HP_0032585		
OBO:HP_0032586	Renal interstitial plasma cell infiltration	biolink:OntologyClass	hp		Increased numbers of plasma cells in the interstitial tissues of the kidney.	http://purl.obolibrary.org/obo/HP_0032586		
OBO:HP_0032587	Renal interstitial calcium oxalate	biolink:OntologyClass	hp		The presence of birefringent calcium- and oxalate deposits in interstitial cells of the kidney.	http://purl.obolibrary.org/obo/HP_0032587		
OBO:HP_0032588	Hand apraxia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032588		Lack of purposeful hand use
OBO:HP_0032589	Renal lymphocytic tubulitis	biolink:OntologyClass	hp		Infiltration of the renal tubular epithelium by lymphocytes.	http://purl.obolibrary.org/obo/HP_0032589		
OBO:HP_0032590	Renal neutrophilic tubulitis	biolink:OntologyClass	hp		Infiltration of the renal tubular epithelium by neutrophils.	http://purl.obolibrary.org/obo/HP_0032590		
OBO:HP_0032591	Renal interstitial hemosiderin	biolink:OntologyClass	hp		Deposition of hemosiderin (a golden-brown, granular pigment derived from ferritin) in interstitial cells of the kidney.	http://purl.obolibrary.org/obo/HP_0032591		
OBO:HP_0032592	Aplasia of the right hemidiaphragm	biolink:OntologyClass	hp		Congenital absence of the right-sided diaphragm.	http://purl.obolibrary.org/obo/HP_0032592		Right diaphragmatic hernia
OBO:HP_0032593	Myoglobin casts	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032593		
OBO:HP_0032594	Renal tubular basement membrane denudation	biolink:OntologyClass	hp		Naked basement membranes without tubular epithelium.	http://purl.obolibrary.org/obo/HP_0032594		Denuded tubular basement membrane
OBO:HP_0032595	Renal tubular epithelial cell detachment	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032595		
OBO:HP_0032596	Renal tubular epithelial cell cytoplasmic vacuolization	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032596		
OBO:HP_0032597	Renal tubular epithelial cell sloughing	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032597		
OBO:HP_0032598	Blebbing of apical cytoplasm of renal tubular epithelial cells	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032598		
OBO:HP_0032599	Abnormal renal tubular epithelial morphology	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032599		
OBO:HP_0032600	Renal tubular epithelial cell hyaline droplets	biolink:OntologyClass	hp		Tubular epithelium with round strongly PAS-positive cytoplasmic droplet material in at least one tubular epithelial cell.	http://purl.obolibrary.org/obo/HP_0032600		
OBO:HP_0032601	Multinucleation of renal tubular epithelial cells	biolink:OntologyClass	hp		Tubular epithelial cells with greater than 3 nuclei in a single epithelial cell, often overlapping with each other in a single plane of view.	http://purl.obolibrary.org/obo/HP_0032601		
OBO:HP_0032602	Prominent nucleoli of renal tubular epithelial cells	biolink:OntologyClass	hp		Tubular epithelium with nucleoli clearly visible at 100-fold magnification.	http://purl.obolibrary.org/obo/HP_0032602		
OBO:HP_0032603	Renal tubular epithelial cell simplification	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032603		
OBO:HP_0032604	Renal tubular epithelial cell mitosis	biolink:OntologyClass	hp		Tubular epithelial cells in any mitotic phase, identified by distinctively visible chromosome in either prophase, metaphase, anaphase or telophase configuration.	http://purl.obolibrary.org/obo/HP_0032604		
OBO:HP_0032605	High renal tubular epithelial cell N/C ratio	biolink:OntologyClass	hp		At least one tubular epithelial cell with average sized cytoplasmic area and a nuclear area 3 times greater than average sized nuclei.	http://purl.obolibrary.org/obo/HP_0032605		High N/C ratio of renal tubular epithelial cells
OBO:HP_0032606	Renal tubular epithelial lipofuscin	biolink:OntologyClass	hp		Presence of increased amount of lipofuscin, a yellow, granular cytoplasmic pigment in the renal tubules.	http://purl.obolibrary.org/obo/HP_0032606		
OBO:HP_0032607	Renal tubular epithelial cell swelling	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032607		
OBO:HP_0032608	Thyroidization-type tubular atrophy	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032608		
OBO:HP_0032609	Endocrine-type tubular atrophy	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032609		Endocrinization pattern of tubular atrophy|Renal tubular atrophy, endocrine-type
OBO:HP_0032610	Tubulointerstitial mycobacterial infiltration	biolink:OntologyClass	hp		Renal tubulointerstitial infiltration of mycobacteria identified on acid-fast or Fite stains. Can be associated with granulomatous inflammation.	http://purl.obolibrary.org/obo/HP_0032610		Renal tubulointerstitial mycobacterial organisms
OBO:HP_0032611	Renal tubular epithelial cell hemosiderin	biolink:OntologyClass	hp		Tubular epithelial cells containing cytoplasmic hemosiderin, brown-golden granular pigment.	http://purl.obolibrary.org/obo/HP_0032611		
OBO:HP_0032612	Triphalangeal hallux	biolink:OntologyClass	hp		A hallux (big toe) with three phalanges in a single, proximo-distal axis.	http://purl.obolibrary.org/obo/HP_0032612		
OBO:HP_0032613	Renal interstitial amyloid deposits	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032613		Renal interstitial amyloid|Renal interstitial amyloid deposition|Renal interstitial amyloidosis
OBO:HP_0032614	Renal glomerular amyloid deposition	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032614		
OBO:HP_0032615	Abnormal diffusion weighted cerebral MRI morphology	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032615		Diffusion weighted imaging (DWI) abnormality|Diffusion weighted magnetic resonance imaging (DWI) abnormality|MRI diffusion abnormality of the cerebrum
OBO:HP_0032616	Renal interstitial immunoglobulin deposits	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0032616		Renal interstitial immunoglobulin deposition
OBO:HP_0032617	Renal interstitial hemorrhage	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032617		Renal interstitial haemorrhage
OBO:HP_0032618	Renal necrosis	biolink:OntologyClass	hp		Cell death (necrosis) affecting one or more parts of the kidney.	http://purl.obolibrary.org/obo/HP_0032618		Renal parenchymal necrosis
OBO:HP_0032619	Perinephric abscess	biolink:OntologyClass	hp		A perinephric abscess is a collection of suppurative material in the perinephric space (i.e., the connective and adipose tissues surrounding the kidney).	http://purl.obolibrary.org/obo/HP_0032619		
OBO:HP_0032620	Intrarenal abscess	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032620		Renal abscess|Renal parenchymal abcess
OBO:HP_0032621	Hyperchromasia of renal tubular epithelial cells	biolink:OntologyClass	hp		At least one tubular cross section with all tubular epithelial nuclei having a chromatin pattern resembling normal mature lymphocytes.	http://purl.obolibrary.org/obo/HP_0032621		Condensed chromatin of renal tubular epithelial cells
OBO:HP_0032622	Tubular luminal dilatation	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032622		
OBO:HP_0032623	Renal intratubular casts	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032623		Tubular casts
OBO:HP_0032624	Intratubular bilirubin casts	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0032624		
OBO:HP_0032625	Intratubular erythrocyte cast	biolink:OntologyClass	hp		Casts that contain red blood cells and are located within the tubuli of the kidney.	http://purl.obolibrary.org/obo/HP_0032625		
OBO:HP_0032626	Intratubular vancomycin casts	biolink:OntologyClass	hp		Intratubular casts composed of vancomycin aggregates and uromodulin.	http://purl.obolibrary.org/obo/HP_0032626		
OBO:HP_0032627	Intratubular leukocyte casts	biolink:OntologyClass	hp		Casts that contain white blood cells and are located within the tubuli of the kidney.	http://purl.obolibrary.org/obo/HP_0032627		
OBO:HP_0032628	Renal intratubular crystals	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0032628		
OBO:HP_0032629	Intratubular dihydroxyadenuria crystals	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032629		
OBO:HP_0032630	Intratubular light-chain casts	biolink:OntologyClass	hp		The presence of casts containing immunoglobulin light chains within the lumina of the renal tubules.	http://purl.obolibrary.org/obo/HP_0032630		
OBO:HP_0032631	Intratubular hemoglobin casts	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032631		Intratubular haemoglobin casts
OBO:HP_0032632	Renal papillary necrosis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032632		
OBO:HP_0032633	Intratubular hyaline casts	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032633		Intratubular Tamm-Horsfall (uromodulin) casts
OBO:HP_0032634	Intratubular myoglobin cast	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032634		
OBO:HP_0032635	Tubulointerstitial microganismal infiltration	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032635		
OBO:HP_0032636	Tubulointerstitial viral infiltration	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032636		Renal tubulointerstitial viral inclusions
OBO:HP_0032637	Renal interstitial edema	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032637		Renal interstitial oedema
OBO:HP_0032638	Elevated urine mevalonic acid	biolink:OntologyClass	hp		An abnormally increased amount of mevanolate in the urine. Mevanolate is that hydroxy monocarboxylic acid anion that is the conjugate base of mevalonic acid.	http://purl.obolibrary.org/obo/HP_0032638		Elevated urine mevalonate|Elevated urine mevalonate levels|Mevalonate aciduria
OBO:HP_0032639	Elevated leukocyte cystine	biolink:OntologyClass	hp		An increased concentration of cystine within white blood cells.	http://purl.obolibrary.org/obo/HP_0032639		
OBO:HP_0032640	Elevated circulating CCL18 level	biolink:OntologyClass	hp		An increased concentration of C-C motif chemokine ligand 18 in the blood circulation.	http://purl.obolibrary.org/obo/HP_0032640		Increased C-C motif chemokine ligand 18 concentration
OBO:HP_0032641	Renal interstitial granulomas	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032641		Renal interstitial granulomata
OBO:HP_0032642	Renal interstitial necrotizing granulomas	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032642		Renal interstitial necrotizing granulomata
OBO:HP_0032643	Renal interstitial non-necrotizing granulomas	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032643		Renal interstitial non-necrotizing granulomata
OBO:HP_0032644	Renal interstitial deposits	biolink:OntologyClass	hp		Abnormal accumulation of a metabolite, protein, or protein-derived substance in the interstitial region of the kidney.	http://purl.obolibrary.org/obo/HP_0032644		
OBO:HP_0032645	Renal interstitial mononuclear cell infiltration	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0032645		
OBO:HP_0032646	Renal interstitial xanthogranulomatous inflammation	biolink:OntologyClass	hp		Inflammation of interstitial tissues of the kidney consisting of foamy macrophages admixed with plasma cells, lymphocytes and neutrophils and occasional giant cells.	http://purl.obolibrary.org/obo/HP_0032646		
OBO:HP_0032647	Renal tubular epithelial cell apoptosis	biolink:OntologyClass	hp		Increased apoptosis (programmed cell death) of tubular epithelial cells. The cells arre rounded with increased eosinophilia and contain fragmented, densely basophilic nuclear debris.	http://purl.obolibrary.org/obo/HP_0032647		
OBO:HP_0032648	Tubularization of Bowman capsule	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032648		
OBO:HP_0032649	Skewfoot	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032649		Skew foot|Skew-foot
OBO:HP_0032650	Elevated CSF glial fibrillary acidic protein level	biolink:OntologyClass	hp		Increased concentration of glial fibrillary acidic protein in cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0032650		
OBO:HP_0032651	Elevated CSF chitinase-3-like protein 1 level	biolink:OntologyClass	hp		Increased concentration of chitinase-3-like protein 1 in cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0032651		
OBO:HP_0032652	Elevated CSF chitotriosidase 1 level	biolink:OntologyClass	hp		Increased concentration of chitotriosidase 1 in cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0032652		
OBO:HP_0032653	Elevated lactate:pyruvate ratio	biolink:OntologyClass	hp		An abnormal increase in the molar ratio of lactate to pyruvate in the blood circulation.	http://purl.obolibrary.org/obo/HP_0032653		
OBO:HP_0032654	Impaired flow-mediated arterial dilatation	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032654		Endothelial dysfunction
OBO:HP_0032655	Decreased adipose tissue tocopherol level	biolink:OntologyClass	hp		A reduced concentration of tocopherol in fat tissue.	http://purl.obolibrary.org/obo/HP_0032655		
OBO:HP_0032656	Febrile status epilepticus	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032656		Fever-induced status epilepticus
OBO:HP_0032657	Elevated circulating lyso-globotriaosylsphingosine concentration	biolink:OntologyClass	hp		An abnormal increase in the level of globotriaosylsphingosine (Lyso-Gb3) in the blood circulation.	http://purl.obolibrary.org/obo/HP_0032657		
OBO:HP_0032658	Status epilepticus with prominent motor symptoms	biolink:OntologyClass	hp		Status epilepticus with prominent motor signs during the prolonged seizure.	http://purl.obolibrary.org/obo/HP_0032658		
OBO:HP_0032659	Non-convulsive status epilepticus with coma	biolink:OntologyClass	hp		A type of status epilepticus without prominent motor symptoms and in the presence of coma.	http://purl.obolibrary.org/obo/HP_0032659		Subtle status epilepticus
OBO:HP_0032660	Convulsive status epilepticus	biolink:OntologyClass	hp		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	http://purl.obolibrary.org/obo/HP_0032660		Tonic-clonic status epilepticus
OBO:HP_0032661	Generalized convulsive status epilepticus	biolink:OntologyClass	hp		A type of bilateral convulsive seizure of generalized onset that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus.	http://purl.obolibrary.org/obo/HP_0032661		Generalised convulsive status epilepticus
OBO:HP_0032662	Focal-onset seizure evolving into bilateral convulsive status epilepticus	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032662		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
OBO:HP_0032663	Focal motor status epilepticus	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032663		
OBO:HP_0032664	Adversive status epilepticus	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032664		
OBO:HP_0032665	Repeated focal motor seizures	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032665		Jacksonian status epilepticus
OBO:HP_0032666	Hyperkinetic status epilepticus	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032666		
OBO:HP_0032667	Myoclonic status epilepticus	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032667		
OBO:HP_0032668	Myoclonic status epilepticus without coma	biolink:OntologyClass	hp		A type of myoclonic status epilepticus in the absence of coma.	http://purl.obolibrary.org/obo/HP_0032668		
OBO:HP_0032669	Myoclonic status epilepticus with coma	biolink:OntologyClass	hp		A type of myoclonic status epilepticus in the presence of coma.	http://purl.obolibrary.org/obo/HP_0032669		
OBO:HP_0032670	Tonic status epilepticus	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032670		
OBO:HP_0032671	Non-convulsive status epilepticus without coma	biolink:OntologyClass	hp		A type of status epilepticus without prominent motor symptoms in the absence of coma.	http://purl.obolibrary.org/obo/HP_0032671		
OBO:HP_0032672	Autonomic status epilepticus	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032672		
OBO:HP_0032673	Focal non-convulsive status epilepticus without coma	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032673		
OBO:HP_0032674	Cutaneous wound	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032674		Skin wound
OBO:HP_0032675	Acute cutaneous wound	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032675		
OBO:HP_0032676	Chronic cutaneous wound	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032676		Chronic nonhealing cutaneous wound
OBO:HP_0032677	Generalized-onset motor seizure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032677		Generalised onset motor seizure|Generalised-onset motor seizure|Generalized onset motor seizure
OBO:HP_0032678	Eyelid myoclonia seizure	biolink:OntologyClass	hp		An eyelid myoclonia seizure is a type of generalized myoclonic seizure which may or may not be associated with loss of awareness.	http://purl.obolibrary.org/obo/HP_0032678		
OBO:HP_0032679	Focal non-motor seizure	biolink:OntologyClass	hp		A type of focal-onset seizure characterized by non-motor signs or symptoms (or behaviour arrest) as its initial semiological manifestation.	http://purl.obolibrary.org/obo/HP_0032679		Focal seizure without motor onset|Partial seizure without motor onset
OBO:HP_0032680	Focal cognitive seizure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032680		Cognitive aura|Cognitive seizure|Partial cognitive seizure
OBO:HP_0032681	Focal aware cognitive seizure	biolink:OntologyClass	hp		A focal aware cognitive seizure during which awareness is retained throughout the seizure.	http://purl.obolibrary.org/obo/HP_0032681		
OBO:HP_0032682	Focal aware non-motor seizure	biolink:OntologyClass	hp		A focal non-motor seizure in which awareness is retained throughout the seizure.	http://purl.obolibrary.org/obo/HP_0032682		Focal non-motor aware seizure
OBO:HP_0032683	obsolete Focal aware cognitive seizure with impaired attention	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0032683		
OBO:HP_0032684	Focal aware cognitive seizure with auditory agnosia	biolink:OntologyClass	hp		A focal cognitive seizure with auditory agnosia characterized by retained awareness throughout the seizure.	http://purl.obolibrary.org/obo/HP_0032684		
OBO:HP_0032685	Focal cognitive seizure with auditory agnosia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032685		
OBO:HP_0032686	Focal aware cognitive seizure with memory impairment	biolink:OntologyClass	hp		A focal cognitive seizure with memory impairment characterized by retained awareness throughout the seizure.	http://purl.obolibrary.org/obo/HP_0032686		
OBO:HP_0032687	Focal cognitive seizure with memory impairment	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0032687		Amnestic aura|Amnestic seizure
OBO:HP_0032688	Focal aware cognitive seizure with dissociation	biolink:OntologyClass	hp		A focal cognitive seizure with dissociation characterized by retained awareness throughout the seizure.	http://purl.obolibrary.org/obo/HP_0032688		
OBO:HP_0032689	Focal cognitive seizure with dissociation	biolink:OntologyClass	hp		A focal cognitive seizure characterized by an experience of being disconnected from, though aware of, self or environment as the initial semiological manifestation.	http://purl.obolibrary.org/obo/HP_0032689		
OBO:HP_0032690	Focal aware cognitive seizure with dyscalculia/acalculia	biolink:OntologyClass	hp		A focal cognitive seizure with dyscalculia and or acalculia characterized by retained awareness throughout the seizure.	http://purl.obolibrary.org/obo/HP_0032690		
OBO:HP_0032691	Focal cognitive seizure with dyscalculia/acalculia	biolink:OntologyClass	hp		A focal cognitive seizure characterized by dyscalculia / acalculia as the initial semiological manifestation.	http://purl.obolibrary.org/obo/HP_0032691		
OBO:HP_0032692	Focal cognitive seizure with forced thinking	biolink:OntologyClass	hp		A focal cognitive seizure characterized by forced thinking as the initial semiological manifestation.	http://purl.obolibrary.org/obo/HP_0032692		
OBO:HP_0032693	Focal cognitive seizure with neglect	biolink:OntologyClass	hp		A focal cognitive seizure characterized by neglect as the initial semiological manifestation.	http://purl.obolibrary.org/obo/HP_0032693		
OBO:HP_0032694	Focal cognitive seizure with dyslexia/alexia	biolink:OntologyClass	hp		A focal cognitive seizure characterized by dyslexia / alexia as the initial semiological manifestation.	http://purl.obolibrary.org/obo/HP_0032694		
OBO:HP_0032695	obsolete Illusory auras	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0032695		
OBO:HP_0032696	Focal cognitive seizure with receptive dysphasia/aphasia	biolink:OntologyClass	hp		A focal cognitive seizure characterized by receptive dysphasia / aphasia as the initial semiological manifestation.	http://purl.obolibrary.org/obo/HP_0032696		
OBO:HP_0032697	obsolete Focal cognitive seizure with deja vu/jamais vu	biolink:OntologyClass	hp		A focal cognitive seizure characterized by memory phenomena such as feelings of familiarity (deja vu) and unfamiliarity (jamais vu) as the initial semiological manifestation.	http://purl.obolibrary.org/obo/HP_0032697		
OBO:HP_0032698	Focal cognitive seizure with conduction dysphasia/aphasia	biolink:OntologyClass	hp		A focal cognitive seizure characterized by conduction dysphasia / aphasia as the initial semiological manifestation.	http://purl.obolibrary.org/obo/HP_0032698		
OBO:HP_0032699	Focal cognitive seizure with dysgraphia/agraphia	biolink:OntologyClass	hp		A focal cognitive seizure characterized by dysgraphia / agraphia as the initial semiological manifestation.	http://purl.obolibrary.org/obo/HP_0032699		
OBO:HP_0032700	Focal cognitive seizure with left-right confusion	biolink:OntologyClass	hp		A focal cognitive seizure characterized by left-right confusion as the initial semiological manifestation.	http://purl.obolibrary.org/obo/HP_0032700		
OBO:HP_0032701	Focal cognitive seizure with anomia	biolink:OntologyClass	hp		A focal cognitive seizure characterized by anomia as the initial semiological manifestation.	http://purl.obolibrary.org/obo/HP_0032701		
OBO:HP_0032702	Focal cognitive seizure with expressive dysphasia/aphasia	biolink:OntologyClass	hp		A focal cognitive seizure characterized by expressive dysphasia / aphasia as the initial semiological manifestation.	http://purl.obolibrary.org/obo/HP_0032702		
OBO:HP_0032703	obsolete Hallucinatory aura	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0032703		
OBO:HP_0032704	Focal aware cognitive seizure with illusion	biolink:OntologyClass	hp		A focal cognitive seizure with illusion characterized by retained awareness throughout the seizure.	http://purl.obolibrary.org/obo/HP_0032704		
OBO:HP_0032705	Focal aware cognitive seizure with forced thinking	biolink:OntologyClass	hp		A focal cognitive seizure with forced thinking characterized by retained awareness throughout the seizure.	http://purl.obolibrary.org/obo/HP_0032705		
OBO:HP_0032706	Focal aware cognitive seizure with left-right confusion	biolink:OntologyClass	hp		A focal cognitive seizure with left-right confusion characterized by retained awareness throughout the seizure.	http://purl.obolibrary.org/obo/HP_0032706		
OBO:HP_0032707	Focal aware cognitive seizure with dyslexia/alexia	biolink:OntologyClass	hp		A focal cognitive seizure with dyslexia / alexia characterized by retained awareness throughout the seizure.	http://purl.obolibrary.org/obo/HP_0032707		
OBO:HP_0032708	Focal aware cognitive seizure with anomia	biolink:OntologyClass	hp		A focal cognitive seizure with anomia characterized by retained awareness throughout the seizure.	http://purl.obolibrary.org/obo/HP_0032708		
OBO:HP_0032709	Focal aware cognitive seizure with dysgraphia/agraphia	biolink:OntologyClass	hp		A focal cognitive seizure with dysgraphia / agraphia characterized by retained awareness throughout the seizure.	http://purl.obolibrary.org/obo/HP_0032709		
OBO:HP_0032710	Focal aware cognitive seizure with receptive dysphasia/aphasia	biolink:OntologyClass	hp		A focal cognitive seizure with receptive dysphasia / aphasia characterized by retained awareness throughout the seizure.	http://purl.obolibrary.org/obo/HP_0032710		
OBO:HP_0032711	Focal aware clonic seizure	biolink:OntologyClass	hp		A type of focal clonic seizure during which awareness is fully retained throughout.	http://purl.obolibrary.org/obo/HP_0032711		
OBO:HP_0032712	Focal impaired awareness motor seizure	biolink:OntologyClass	hp		A type of focal motor seizure in which awareness is partially or fully impaired at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032712		Focal motor impaired awareness seizure
OBO:HP_0032713	Focal impaired awareness motor seizure with version	biolink:OntologyClass	hp		A focal motor seizure with version characterized by impaired awareness at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032713		Focal motor impaired awareness seizure with version
OBO:HP_0032714	Focal impaired awareness bilateral motor seizure	biolink:OntologyClass	hp		A focal bilateral motor seizure characterized by impairment of awareness at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032714		
OBO:HP_0032715	Focal bilateral motor seizure	biolink:OntologyClass	hp		A type of focal motor seizure (it commences in one hemisphere) involving bilateral muscle groups rapidly at seizure onset.	http://purl.obolibrary.org/obo/HP_0032715		
OBO:HP_0032716	Focal impaired awareness non-motor seizure	biolink:OntologyClass	hp		A focal non-motor seizure characterized by impaired awareness at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032716		Focal non-motor impaired awareness seizure
OBO:HP_0032717	Focal impaired awareness motor seizure with dystonia	biolink:OntologyClass	hp		A focal motor seizure with dystonia characterized by impaired awareness at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032717		Focal motor impaired awareness seizure with dystonia
OBO:HP_0032718	Focal motor seizure with dystonia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032718		
OBO:HP_0032719	Focal impaired awareness motor seizure with dysarthria/anarthria	biolink:OntologyClass	hp		A focal motor seizure with dysarthria / anarthria characterized by impaired awareness at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032719		Focal motor impaired awareness seizure with dysarthria/anarthria
OBO:HP_0032720	Focal motor seizure with dysarthria/anarthria	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032720		
OBO:HP_0032721	Focal motor seizure with paresis/paralysis	biolink:OntologyClass	hp		A focal motor seizure characterized by weakness or complete paralysis of a muscle or group of muscles as the initial semiological manifestation.	http://purl.obolibrary.org/obo/HP_0032721		
OBO:HP_0032722	Focal aware tonic seizure	biolink:OntologyClass	hp		A type of focal tonic seizure during which awareness is fully retained throughout.	http://purl.obolibrary.org/obo/HP_0032722		
OBO:HP_0032723	Focal aware motor seizure with dystonia	biolink:OntologyClass	hp		A focal motor seizure with dystonia characterized by retained awareness throughout the seizure.	http://purl.obolibrary.org/obo/HP_0032723		Focal motor aware seizure with dystonia
OBO:HP_0032724	Focal impaired awareness tonic seizure	biolink:OntologyClass	hp		A focal tonic seizure in which awareness is partially or fully impaired at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032724		
OBO:HP_0032725	Focal impaired awareness clonic seizure	biolink:OntologyClass	hp		A type of focal clonic seizure during which awareness is partially or fully impaired at some point in the seizure.	http://purl.obolibrary.org/obo/HP_0032725		
OBO:HP_0032726	Focal impaired awareness hyperkinetic seizure	biolink:OntologyClass	hp		A focal hyperkinetic seizure in which awareness is partially or fully impaired at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032726		
OBO:HP_0032727	Focal emotional seizure with agitation	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032727		
OBO:HP_0032728	Focal impaired awareness atonic seizure	biolink:OntologyClass	hp		A focal atonic seizure in which awareness is partially or fully impaired at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032728		
OBO:HP_0032729	Focal emotional seizure with pleasure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032729		
OBO:HP_0032730	Focal impaired awareness myoclonic seizure	biolink:OntologyClass	hp		A focal myoclonic seizure in which awareness is partially or fully impaired at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032730		
OBO:HP_0032731	Focal aware hyperkinetic seizure	biolink:OntologyClass	hp		A type of focal hypermotor seizure during which awareness is fully retained throughout.	http://purl.obolibrary.org/obo/HP_0032731		
OBO:HP_0032732	Focal aware motor seizure with paresis/paralysis	biolink:OntologyClass	hp		A focal motor seizure with paresis / paralysis characterized by retained awareness throughout the seizure.	http://purl.obolibrary.org/obo/HP_0032732		Focal motor aware seizure with paresis/paralysis
OBO:HP_0032733	Focal aware motor seizure with dysarthria/anarthria	biolink:OntologyClass	hp		A focal motor seizure with dysarthria / anarthria characterized by retained awareness throughout the seizure.	http://purl.obolibrary.org/obo/HP_0032733		Focal motor aware seizure with dysarthria/anarthria
OBO:HP_0032734	Focal aware emotional seizure	biolink:OntologyClass	hp		A focal emotional seizure during which awareness is retained throughout the seizure.	http://purl.obolibrary.org/obo/HP_0032734		
OBO:HP_0032735	Focal aware emotional seizure with anger	biolink:OntologyClass	hp		Focal emotional seizure with anger in which awareness is retained throughout.	http://purl.obolibrary.org/obo/HP_0032735		
OBO:HP_0032736	Focal emotional seizure with anger	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032736		
OBO:HP_0032737	Focal emotional seizure with paranoia	biolink:OntologyClass	hp		Focal emotional seizure with paranoia is characterized by the presence of paranoia as an expressed or observed emotion at the outset of the seizure.	http://purl.obolibrary.org/obo/HP_0032737		
OBO:HP_0032738	Focal aware emotional seizure with fear/anxiety/panic	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032738		
OBO:HP_0032739	Focal emotional seizure with fear/anxiety/panic	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032739		
OBO:HP_0032740	Focal aware autonomic seizure	biolink:OntologyClass	hp		A focal autonomic seizure characterised by retained awareness throughout the seizure.	http://purl.obolibrary.org/obo/HP_0032740		Focal autonomic seizures without altered responsiveness|Localized autonomic seizures without altered responsiveness|Partial autonomic seizures without altered responsiveness
OBO:HP_0032741	Focal aware emotional seizure with paranoia	biolink:OntologyClass	hp		Focal emotional seizure with paranoia in which awareness is retained throughout.	http://purl.obolibrary.org/obo/HP_0032741		
OBO:HP_0032742	Focal aware emotional seizure with pleasure	biolink:OntologyClass	hp		Focal emotional seizure with pleasure in which awareness is retained throughout.	http://purl.obolibrary.org/obo/HP_0032742		
OBO:HP_0032743	Focal aware emotional seizure with crying	biolink:OntologyClass	hp		Focal emotional seizure with crying (dacrystic)in which awareness is retained throughout.	http://purl.obolibrary.org/obo/HP_0032743		
OBO:HP_0032744	Focal aware emotional seizure with agitation	biolink:OntologyClass	hp		Focal emotional seizure with agitation in which awareness is retained throughout.	http://purl.obolibrary.org/obo/HP_0032744		
OBO:HP_0032745	Focal aware emotional seizure with laughing	biolink:OntologyClass	hp		Focal emotional seizure with laughing in which awareness is retained throughout.	http://purl.obolibrary.org/obo/HP_0032745		
OBO:HP_0032746	Focal impaired awareness emotional seizure	biolink:OntologyClass	hp		A focal emotional seizure in which awareness is partially or fully impaired at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032746		
OBO:HP_0032747	Focal impaired awareness emotional seizure with pleasure	biolink:OntologyClass	hp		Focal emotional seizure with pleasure in which awareness is partially or fully impaired at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032747		
OBO:HP_0032748	Focal impaired awareness emotional seizure with anger	biolink:OntologyClass	hp		Focal emotional seizure with anger in which awareness is partially or fully impaired at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032748		
OBO:HP_0032749	Focal impaired awareness emotional seizure with paranoia	biolink:OntologyClass	hp		Focal emotional seizure with paranoia in which awareness is partially or fully impaired at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032749		
OBO:HP_0032750	Focal impaired awareness emotional seizure with laughing	biolink:OntologyClass	hp		Focal emotional seizure with laughing in which awareness is partially or fully impaired at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032750		
OBO:HP_0032751	Focal impaired awareness emotional seizure with crying	biolink:OntologyClass	hp		Focal emotional seizure with crying in which awareness is partially or fully impaired at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032751		
OBO:HP_0032752	Focal impaired awareness emotional seizure with fear/anxiety/panic	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032752		
OBO:HP_0032753	Focal impaired awareness emotional seizure with agitation	biolink:OntologyClass	hp		A focal emotional seizure with agitation in which awareness is partially or fully impaired at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032753		
OBO:HP_0032754	Focal aware sensory seizure	biolink:OntologyClass	hp		A focal sensory seizure during which awareness is retained throughout the seizure.	http://purl.obolibrary.org/obo/HP_0032754		
OBO:HP_0032755	Focal impaired awareness autonomic seizure	biolink:OntologyClass	hp		A focal autonomic seizure characterised by impaired awareness at some point within the seizure.	http://purl.obolibrary.org/obo/HP_0032755		Focal autonomic seizure with altered responsiveness|Localized autonomic seizure with altered responsiveness|Partial autonomic seizure with altered responsiveness
OBO:HP_0032756	Focal impaired awareness cognitive seizure	biolink:OntologyClass	hp		A focal cognitive seizure in which awareness is partially or fully impaired at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032756		
OBO:HP_0032757	Focal aware hemiclonic seizure	biolink:OntologyClass	hp		A focal hemiclonic seizure in which awareness is retained throughout.	http://purl.obolibrary.org/obo/HP_0032757		
OBO:HP_0032758	Focal aware myoclonic seizure	biolink:OntologyClass	hp		A type of focal myoclonic seizure during which awareness is fully retained throughout.	http://purl.obolibrary.org/obo/HP_0032758		
OBO:HP_0032759	Focal sensory seizure with vestibular features	biolink:OntologyClass	hp		A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation as its first clinical manifestation.	http://purl.obolibrary.org/obo/HP_0032759		Focal vestibular seizure|Partial vestibular seizure|Vestibular aura
OBO:HP_0032760	Focal sensory seizure with hot-cold sensations	biolink:OntologyClass	hp		A seizure characterized by sensations of feeling hot or cold as its first clinical manifestation.	http://purl.obolibrary.org/obo/HP_0032760		
OBO:HP_0032761	Focal aware autonomic seizure with pallor/flushing	biolink:OntologyClass	hp		A focal autonomic seizure with pallor / flushing characterized by retained awareness throughout the seizure.	http://purl.obolibrary.org/obo/HP_0032761		
OBO:HP_0032762	Focal autonomic seizure with pallor/flushing	biolink:OntologyClass	hp		A type of focal autonomic seizure characterized by changes of the skin as the initial semiological feature.	http://purl.obolibrary.org/obo/HP_0032762		
OBO:HP_0032763	Focal autonomic seizure with pupillary dilation/constriction	biolink:OntologyClass	hp		A type of focal autonomic seizure characterized by pupillary dilatation or contraction as the initial semiological feature.	http://purl.obolibrary.org/obo/HP_0032763		
OBO:HP_0032764	Focal autonomic seizure with erection	biolink:OntologyClass	hp		A type of focal autonomic seizure characterised by penile erection as the intial semiological feature.	http://purl.obolibrary.org/obo/HP_0032764		
OBO:HP_0032765	Focal autonomic seizure with urge to urinate/defecate	biolink:OntologyClass	hp		A type of focal autonomic seizure characterized by an urge to unripe or defecate as the initial semiological feature.	http://purl.obolibrary.org/obo/HP_0032765		
OBO:HP_0032766	Focal autonomic seizure with hypoventilation/hyperventilation/altered respiration	biolink:OntologyClass	hp		A type of focal autonomic seizure characterized by changes in respiratory rate as the initial semiological feature.	http://purl.obolibrary.org/obo/HP_0032766		
OBO:HP_0032767	Focal autonomic seizure with piloerection	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032767		
OBO:HP_0032768	Focal aware autonomic seizure with pupillary dilation/constriction	biolink:OntologyClass	hp		A focal autonomic seizure with pupillary dilation / constriction characterized by retained awareness throughout the seizure.	http://purl.obolibrary.org/obo/HP_0032768		
OBO:HP_0032769	Focal aware autonomic seizure with hypoventilation/hyperventilation/altered respiration	biolink:OntologyClass	hp		An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by retained awareness throughout the seizure.	http://purl.obolibrary.org/obo/HP_0032769		
OBO:HP_0032770	Focal aware autonomic seizure with erection	biolink:OntologyClass	hp		A focal autonomic seizure with erection characterized by retained awareness throughout the seizure.	http://purl.obolibrary.org/obo/HP_0032770		
OBO:HP_0032771	Focal autonomic seizure with lacrimation	biolink:OntologyClass	hp		A type of focal autonomic seizure characterized by lacrimation as the initial semiological feature.	http://purl.obolibrary.org/obo/HP_0032771		
OBO:HP_0032772	Focal impaired awareness autonomic seizure with piloerection	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032772		
OBO:HP_0032773	Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole	biolink:OntologyClass	hp		A type of focal autonomic seizure characterized by changes in heart rate as the initial semiological feature.	http://purl.obolibrary.org/obo/HP_0032773		
OBO:HP_0032774	Focal impaired awareness autonomic seizure with urge to urinate/defecate	biolink:OntologyClass	hp		A focal autonomic seizure with urge to urinate / defecate characterized by impaired awareness at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032774		
OBO:HP_0032775	Focal impaired awareness autonomic seizure with hypoventilation/hyperventilation/altered respiration	biolink:OntologyClass	hp		An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by impaired awareness at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032775		
OBO:HP_0032776	Focal aware autonomic seizure with lacrimation	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0032776		
OBO:HP_0032777	Focal impaired awareness autonomic seizure with pallor/flushing	biolink:OntologyClass	hp		A focal autonomic seizure with pallor / flushing characterized by impaired awareness at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032777		
OBO:HP_0032778	Focal impaired awareness autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena	biolink:OntologyClass	hp		A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by impaired awareness at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032778		
OBO:HP_0032779	Focal impaired awareness autonomic seizure with pupillary dilation/constriction	biolink:OntologyClass	hp		A focal autonomic seizure with pupillary dilation / constriction characterized by impaired awareness at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032779		
OBO:HP_0032780	Focal impaired awareness autonomic seizure with erection	biolink:OntologyClass	hp		A focal autonomic seizure with erection characterized by impairment of awareness at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032780		
OBO:HP_0032781	Focal aware autonomic seizure with urge to urinate/defecate	biolink:OntologyClass	hp		A focal autonomic seizure with urge to urinate / defecate characterized by retained awareness throughout the seizure.	http://purl.obolibrary.org/obo/HP_0032781		
OBO:HP_0032782	Focal impaired awareness autonomic seizure with lacrimation	biolink:OntologyClass	hp		A focal autonomic seizure with lacrimation characterized by impaired awareness at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032782		
OBO:HP_0032783	Focal aware autonomic seizure with piloerection	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032783		
OBO:HP_0032784	Focal aware autonomic seizure with palpitations/tachycardia/bradycardia/asystole	biolink:OntologyClass	hp		An autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by retained awareness throughout the seizure.	http://purl.obolibrary.org/obo/HP_0032784		
OBO:HP_0032785	Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena	biolink:OntologyClass	hp		A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by retained awareness throughout the seizure.	http://purl.obolibrary.org/obo/HP_0032785		
OBO:HP_0032786	Migrating focal seizure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032786		Migrating partial seizure
OBO:HP_0032787	Focal impaired awareness sensory seizure	biolink:OntologyClass	hp		A focal sensory seizure in which awareness is partially or fully impaired at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032787		
OBO:HP_0032788	Focal impaired awareness autonomic seizure with palpitations/tachycardia/bradycardia/asystole	biolink:OntologyClass	hp		A focal autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by impaired awareness at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032788		
OBO:HP_0032789	Focal aware behavior arrest seizure	biolink:OntologyClass	hp		A focal behavior arrest seizure characterised by retained awareness throughout the seizure.	http://purl.obolibrary.org/obo/HP_0032789		Focal aware behaviour arrest seizure
OBO:HP_0032790	Focal impaired awareness behavior arrest seizure	biolink:OntologyClass	hp		A focal behavior arrest seizure characterised by impaired awareness at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032790		Focal impaired awareness behaviour arrest seizure
OBO:HP_0032791	Focal impaired awareness cognitive seizure with anomia	biolink:OntologyClass	hp		A focal cognitive seizure with anomia characterized by impairment of awareness at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032791		
OBO:HP_0032792	Tonic seizure	biolink:OntologyClass	hp		A tonic seizure is a type of motor seizure characterised by unilateral or bilateral limb stiffening or elevation, often with neck stiffening.	http://purl.obolibrary.org/obo/HP_0032792		
OBO:HP_0032793	Focal impaired awareness cognitive seizure with receptive dysphasia/aphasia	biolink:OntologyClass	hp		A focal cognitive seizure with receptive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032793		
OBO:HP_0032794	Myoclonic seizure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032794		
OBO:HP_0032795	Generalized myoclonic-tonic-clonic seizure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032795		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
OBO:HP_0032796	Focal impaired awareness cognitive seizure with left-right confusion	biolink:OntologyClass	hp		A focal cognitive seizure with left-right confusion characterized by impairment of awareness at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032796		
OBO:HP_0032797	Focal aware sensory seizure with olfactory features	biolink:OntologyClass	hp		Seizures characterized by olfactory phenomena at onset - usually an odor, which is often unpleasant.	http://purl.obolibrary.org/obo/HP_0032797		
OBO:HP_0032798	Focal impaired awareness cognitive seizure with neglect	biolink:OntologyClass	hp		A focal cognitive seizure with neglect characterized by impairment of awareness at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032798		
OBO:HP_0032799	Focal impaired awareness hemiclonic seizure	biolink:OntologyClass	hp		A focal hemiclonic seizure in which awareness is impaired at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032799		
OBO:HP_0032800	Focal aware sensory seizure with vestibular features	biolink:OntologyClass	hp		A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation.	http://purl.obolibrary.org/obo/HP_0032800		
OBO:HP_0032801	Focal impaired awareness cognitive seizure with memory impairment	biolink:OntologyClass	hp		A focal cognitive seizure with memory impairment characterized by impairment of awareness at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032801		
OBO:HP_0032802	Focal impaired awareness cognitive seizure with dyscalculia/acalculia	biolink:OntologyClass	hp		A focal cognitive seizure with dyscalculia / acalculia characterized by impairment of awareness at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032802		
OBO:HP_0032803	Focal impaired awareness cognitive seizure with dysgraphia/agraphia	biolink:OntologyClass	hp		A focal cognitive seizure with dysgraphia / agraphia characterized by impairment of awareness at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032803		
OBO:HP_0032804	Focal impaired awareness sensory seizure with olfactory features	biolink:OntologyClass	hp		A focal sensory seizure with olfaction in which awareness is partially or fully impaired at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032804		
OBO:HP_0032805	Focal impaired awareness sensory seizure with vestibular features	biolink:OntologyClass	hp		A focal sensory seizure with vestibular features in which awareness is partially or fully impaired at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032805		
OBO:HP_0032806	Focal impaired awareness sensory seizure with visual features	biolink:OntologyClass	hp		A focal sensory seizure with visual features in which awareness is partially or fully impaired at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032806		
OBO:HP_0032807	Neonatal seizure	biolink:OntologyClass	hp		A seizure occurring within the neonatal period (28 days beyond the full term date).	http://purl.obolibrary.org/obo/HP_0032807		
OBO:HP_0032808	Neonatal seizure with electrographic correlate	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032808		
OBO:HP_0032809	Neonatal electro-clinical seizure	biolink:OntologyClass	hp		Neonatal electro-clinical seizure is an electrographic event occurring in neonatal period and coupled with a clinical manifestation.	http://purl.obolibrary.org/obo/HP_0032809		
OBO:HP_0032810	Focal sensory seizure with cephalic sensation	biolink:OntologyClass	hp		A seizure characterized by a sensation in the head such as light-headedness or headache as its first clinical manifestation.	http://purl.obolibrary.org/obo/HP_0032810		Cephalic aura|Focal seizure with cephalic sensation|Partial seizure with cephalic sensation
OBO:HP_0032811	Neonatal electrographic only seizure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032811		
OBO:HP_0032812	Neonatal electro-clinical non-motor seizure	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0032812		
OBO:HP_0032813	Neonatal electro-clinical motor seizure	biolink:OntologyClass	hp		Neonatal electro-clinical motor seizure is a type of neonatal electro-clinical seizure with predominant motor features.	http://purl.obolibrary.org/obo/HP_0032813		
OBO:HP_0032814	Neonatal electro-clinical clonic seizure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032814		Neonatal electroclinical clonic seizure
OBO:HP_0032815	Neonatal electro-clinical myoclonic seizure	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0032815		Neonatal electroclinical myoclonic seizure
OBO:HP_0032816	Neonatal multifocal myoclonic seizure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032816		
OBO:HP_0032817	Neonatal focal myoclonic seizure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032817		
OBO:HP_0032818	Neonatal focal clonic seizure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032818		
OBO:HP_0032819	Neonatal bilateral clonic seizure	biolink:OntologyClass	hp		Neonatal bilateral clonic seizure is a type of neonatal electro-clinical clonic seizure where the clonic jerking is bilateral.	http://purl.obolibrary.org/obo/HP_0032819		
OBO:HP_0032820	Neonatal multifocal clonic seizure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032820		
OBO:HP_0032821	Neonatal electro-clinical tonic seizure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032821		
OBO:HP_0032822	Neonatal electro-clinical autonomic seizure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032822		
OBO:HP_0032823	Neonatal electro-clinical seizure with behavior arrest	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032823		Neonatal electro-clinical seizure with behaviour arrest|Neonatal electroclinical seizure with behavioural arrest
OBO:HP_0032824	Neonatal focal tonic seizure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032824		
OBO:HP_0032825	Neonatal electro-clinical sequential motor seizure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032825		Neonatal electroclinical sequential motor seizure
OBO:HP_0032826	Focal neonatal sequential seizure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032826		
OBO:HP_0032827	Multifocal neonatal sequential seizure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032827		
OBO:HP_0032828	Neonatal bilateral symmetric tonic seizure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032828		
OBO:HP_0032829	Neonatal electro-clinical motor seizure with automatism	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032829		Neonatal electroclinical motor seizure with automatism
OBO:HP_0032830	Neonatal seizure with bilateral asymmetric automatism	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032830		
OBO:HP_0032831	Neonatal bilateral asymmetric tonic seizure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032831		
OBO:HP_0032832	Neonatal bilateral asymmetric myoclonic seizure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032832		
OBO:HP_0032833	Neonatal epileptic spasm	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032833		
OBO:HP_0032834	Neonatal seizure with unilateral automatism	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032834		
OBO:HP_0032835	Neonatal seizure with bilateral symmetric automatism	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032835		
OBO:HP_0032836	Neonatal bilateral symmetric myoclonic seizure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032836		
OBO:HP_0032837	Bilateral asymmetric neonatal sequential seizure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032837		
OBO:HP_0032838	Neonatal unilateral epileptic spasm	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032838		
OBO:HP_0032839	Bilateral symmetric neonatal sequential seizure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032839		
OBO:HP_0032840	Neonatal bilateral symmetric epileptic spasm	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032840		
OBO:HP_0032841	Neonatal bilateral asymmetric epileptic spasm	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032841		
OBO:HP_0032842	Generalized-onset epileptic spasm	biolink:OntologyClass	hp		A type of epileptic spasm of generalized onset.	http://purl.obolibrary.org/obo/HP_0032842		Generalised onset epileptic spasm|Generalised-onset epileptic spasm|Generalized onset epileptic spasm
OBO:HP_0032843	Focal-onset epileptic spasm	biolink:OntologyClass	hp		A type of epileptic spasm of focal onset.	http://purl.obolibrary.org/obo/HP_0032843		Focal onset epileptic spasm
OBO:HP_0032844	Focal impaired awareness epileptic spasm	biolink:OntologyClass	hp		A type of focal-onset epileptic spasm in which awareness is impaired at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032844		
OBO:HP_0032845	Focal aware epileptic spasm	biolink:OntologyClass	hp		A type of focal-onset epileptic spasm in which awareness is preserved throughout the seizure.	http://purl.obolibrary.org/obo/HP_0032845		
OBO:HP_0032846	Focal motor seizure with negative myoclonus	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032846		
OBO:HP_0032847	Focal impaired awareness hemifacial clonic seizure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032847		
OBO:HP_0032848	Focal aware cognitive seizure with neglect	biolink:OntologyClass	hp		A focal cognitive seizure with neglect characterized by retained awareness throughout the seizure.	http://purl.obolibrary.org/obo/HP_0032848		
OBO:HP_0032849	Aphasic status epilepticus	biolink:OntologyClass	hp		Aphasic status epilepticus is a type of focal non-convulsive status epilepticus without coma characterized by a cognitive (rather than motor) language deficit.	http://purl.obolibrary.org/obo/HP_0032849		
OBO:HP_0032850	Focal aware cognitive seizure with expressive dysphasia/aphasia	biolink:OntologyClass	hp		A focal cognitive seizure with expressive dysphasia / aphasia characterized by retained awareness throughout the seizure.	http://purl.obolibrary.org/obo/HP_0032850		
OBO:HP_0032851	Focal aware sensory seizure with visual features	biolink:OntologyClass	hp		A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis.	http://purl.obolibrary.org/obo/HP_0032851		
OBO:HP_0032852	Focal impaired awareness cognitive seizure with conduction dysphasia/aphasia	biolink:OntologyClass	hp		A focal cognitive seizure with conduction dysphasia / aphasia characterized by impairment of awareness at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032852		
OBO:HP_0032853	Focal impaired awareness sensory seizure with hot-cold sensations	biolink:OntologyClass	hp		A focal sensory seizure with hot-cold sensations in which awareness is partially or fully impaired at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032853		
OBO:HP_0032854	Focal aware hemifacial clonic seizure	biolink:OntologyClass	hp		Focal seizure characterized at onset by clonic movements affecting half of the face with retained awareness throughout.	http://purl.obolibrary.org/obo/HP_0032854		
OBO:HP_0032855	Photosensitive myoclonic-tonic-clonic seizure	biolink:OntologyClass	hp		Generalised myoclonic-tonic-clonic seizure provoked by flashing or flickering light.	http://purl.obolibrary.org/obo/HP_0032855		Photically induced myoclonic-tonic-clonic seizure
OBO:HP_0032856	Focal aware bilateral motor seizure	biolink:OntologyClass	hp		A type of focal bilateral motor seizure during which awareness is fully retained throughout.	http://purl.obolibrary.org/obo/HP_0032856		
OBO:HP_0032857	Focal aware motor seizure with negative myoclonus	biolink:OntologyClass	hp		A focal motor seizure with negative myoclonus characterized by retained awareness throughout the seizure.	http://purl.obolibrary.org/obo/HP_0032857		Focal motor aware seizure with negative myoclonus
OBO:HP_0032858	Focal impaired awareness motor seizure with negative myoclonus	biolink:OntologyClass	hp		A focal motor seizure with negative myoclonus characterized by impairement of awareness at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032858		Focal motor impaired awareness seizure with negative myoclonus
OBO:HP_0032859	Focal impaired awareness motor seizure with paresis/paralysis	biolink:OntologyClass	hp		A focal motor seizure with paresis / paralysis characterized by impaired awareness at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032859		Focal motor impaired awareness seizure with paresis/paralysis
OBO:HP_0032860	Generalized non-convulsive status epilepticus without coma	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032860		Absence status epilepticus|Generalised non-convulsive status epilepticus without coma|Petit mal status epilepticus
OBO:HP_0032861	Focal non-convulsive status epilepticus with impairment of consciousness	biolink:OntologyClass	hp		Focal non-convulsive status epilepticus with impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness is impaired.	http://purl.obolibrary.org/obo/HP_0032861		Focal non-convulsive status epilepticus with impairment of awareness
OBO:HP_0032862	Status epilepticus with ictal paresis	biolink:OntologyClass	hp		A type of focal motor status epilepticus characterized by prolonged ictal paresis or inhibitory motor seizures.	http://purl.obolibrary.org/obo/HP_0032862		Focal inhibitory status epilepticus
OBO:HP_0032863	Typical absence status epilepticus	biolink:OntologyClass	hp		Typical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged typical absence seizure.	http://purl.obolibrary.org/obo/HP_0032863		Simple absence status epilepticus
OBO:HP_0032864	Focal aware sensory seizure with auditory features	biolink:OntologyClass	hp		A type of focal sensory seizure with auditory features during which awareness is retained throughout the seizure.	http://purl.obolibrary.org/obo/HP_0032864		
OBO:HP_0032865	Myoclonic absence status epilepticus	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032865		
OBO:HP_0032866	Oculoclonic status epilepticus	biolink:OntologyClass	hp		A type of focal motor status epilepticus characterized by repetitive and rapid saccades, in association with epileptic discharges.	http://purl.obolibrary.org/obo/HP_0032866		
OBO:HP_0032867	Refractory status epilepticus	biolink:OntologyClass	hp		Refractory status epilepticus is defined as status epilepticus continuing despite two appropriately selected and dosed antiepileptic drugs, including a benzodiazepine.	http://purl.obolibrary.org/obo/HP_0032867		
OBO:HP_0032868	Super-refractory status epilepticus	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032868		
OBO:HP_0032869	Focal non-convulsive status epilepticus without impairment of consciousness	biolink:OntologyClass	hp		Focal non-convulsive status epilepticus without impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness remains intact.	http://purl.obolibrary.org/obo/HP_0032869		Aura continua|Focal non-convulsive status epilepticus with retained awareness|Focal non-convulsive status epilepticus without impairment of awareness
OBO:HP_0032870	Focal impaired awareness cognitive seizure with dyslexia/alexia	biolink:OntologyClass	hp		A focal cognitive seizure with dyslexia / alexia characterized by impairment of awareness at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032870		
OBO:HP_0032871	Focal aware cognitive seizure with hallucination	biolink:OntologyClass	hp		A focal cognitive seizure with hallucination characterized by retained awareness throughout the seizure.	http://purl.obolibrary.org/obo/HP_0032871		
OBO:HP_0032872	Focal impaired awareness cognitive seizure with illusion	biolink:OntologyClass	hp		A focal cognitive seizure with illusion characterized by impairment of awareness at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032872		
OBO:HP_0032873	Focal aware sensory seizure with cephalic sensation	biolink:OntologyClass	hp		A seizure characterized by a sensation in the head such as light-headedness or headache.	http://purl.obolibrary.org/obo/HP_0032873		
OBO:HP_0032874	Focal impaired awareness cognitive seizure with auditory agnosia	biolink:OntologyClass	hp		A focal cognitive seizure with auditory agnosia characterized by impairment of awareness at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032874		
OBO:HP_0032875	obsolete Focal impaired awareness cognitive seizure with impaired responsiveness	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0032875		
OBO:HP_0032876	Focal aware cognitive seizure with conduction dysphasia/aphasia	biolink:OntologyClass	hp		A focal cognitive seizure with conduction dysphasia / aphasia characterized by retained awareness throughout the seizure.	http://purl.obolibrary.org/obo/HP_0032876		
OBO:HP_0032877	Focal aware sensory seizure with hot-cold sensations	biolink:OntologyClass	hp		A seizure characterized by sensations of feeling hot and then cold.	http://purl.obolibrary.org/obo/HP_0032877		
OBO:HP_0032878	Focal impaired awareness sensory seizure with cephalic sensation	biolink:OntologyClass	hp		A focal sensory seizure with cephalic sensation in which awareness is partially or fully impaired at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032878		
OBO:HP_0032879	Focal impaired awareness seizure with dissociation at onset	biolink:OntologyClass	hp		A focal cognitive seizure with dissociation at the onset of the seizure impairment of awareness at at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032879		
OBO:HP_0032880	Focal impaired awareness sensory seizure with auditory features	biolink:OntologyClass	hp		A focal sensory seizure with auditory features in which awareness is partially or fully impaired at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032880		
OBO:HP_0032881	obsolete Focal aware cognitive seizure with impaired responsiveness	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0032881		
OBO:HP_0032882	Focal impaired awareness cognitive seizure with deja vu/jamais vu	biolink:OntologyClass	hp		A focal cognitive seizure with deja vu / jamais vu characterized by impairment of awareness at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032882		
OBO:HP_0032883	Focal aware cognitive seizure with deja vu/jamais vu	biolink:OntologyClass	hp		A focal cognitive seizure with deja vu / jamais vu characterized by retained awareness throughout the seizure.	http://purl.obolibrary.org/obo/HP_0032883		
OBO:HP_0032884	Focal aware sensory seizure with somatosensory features	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032884		
OBO:HP_0032885	Focal impaired awareness cognitive seizure with hallucination	biolink:OntologyClass	hp		A focal cognitive seizure with hallucination characterized by impairment of awareness at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032885		
OBO:HP_0032886	Focal impaired awareness cognitive seizure with expressive dysphasia/aphasia	biolink:OntologyClass	hp		A focal cognitive seizure with expressive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032886		
OBO:HP_0032887	Generalized atonic seizure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032887		Generalised atonic seizure
OBO:HP_0032888	Focal impaired awareness cognitive seizure with forced thinking	biolink:OntologyClass	hp		A focal cognitive seizure with forced thinking characterized by impairment of awareness at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032888		
OBO:HP_0032889	Focal aware sensory seizure with gustatory features	biolink:OntologyClass	hp		A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes.	http://purl.obolibrary.org/obo/HP_0032889		
OBO:HP_0032890	Focal impaired awareness sensory seizure with somatosensory features	biolink:OntologyClass	hp		A focal sensory seizure with somatosensory features in which awareness is partially or fully impaired at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032890		
OBO:HP_0032891	Focal aware motor seizure with version	biolink:OntologyClass	hp		A focal motor seizure with version characterized by retained awareness throughout the seizure.	http://purl.obolibrary.org/obo/HP_0032891		Focal motor aware seizure with version
OBO:HP_0032892	Infection-related seizure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032892		
OBO:HP_0032893	Gastroenteritis-related afebrile seizure	biolink:OntologyClass	hp		Afebrile (less than 38.0 degrees Celcius), brief, and generalized seizures accompanying gastroenteritis without an alternative cause.	http://purl.obolibrary.org/obo/HP_0032893		
OBO:HP_0032894	Seizure precipitated by febrile infection	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032894		Fever induced seizure
OBO:HP_0032895	Febrile seizure outside the age of 3 months to 6 years	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032895		
OBO:HP_0032896	Music-induced seizure	biolink:OntologyClass	hp		Seizure precipitated by listening to music or other complex sounds.	http://purl.obolibrary.org/obo/HP_0032896		
OBO:HP_0032897	Focal impaired awareness sensory seizure with gustatory features	biolink:OntologyClass	hp		A focal sensory seizure with gustatory features in which awareness is partially or fully impaired at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032897		
OBO:HP_0032898	Focal automatism seizure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032898		
OBO:HP_0032899	Focal orofacial automatism seizure	biolink:OntologyClass	hp		A type of focal automatism seizure characterized by orofacial automatisms at onset.	http://purl.obolibrary.org/obo/HP_0032899		
OBO:HP_0032900	Focal manual automatism seizure	biolink:OntologyClass	hp		A type of focal automatism seizure characterized by manual automatisms at onset.	http://purl.obolibrary.org/obo/HP_0032900		
OBO:HP_0032901	Focal pedal automatism seizure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032901		
OBO:HP_0032902	Focal perseverative automatism seizure	biolink:OntologyClass	hp		A type of focal automatism seizure characterized by inappropriate continuation of pre-seizure movement or behavior at onset.	http://purl.obolibrary.org/obo/HP_0032902		
OBO:HP_0032903	Focal vocal automatism seizure	biolink:OntologyClass	hp		A type of focal automatism seizure characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset.	http://purl.obolibrary.org/obo/HP_0032903		
OBO:HP_0032904	Focal verbal automatism seizure	biolink:OntologyClass	hp		A type of focal automatism seizure characterized by the production of single or repetitive words, phrases, or brief sentences at onset.	http://purl.obolibrary.org/obo/HP_0032904		
OBO:HP_0032905	Focal sexual automatism seizure	biolink:OntologyClass	hp		A type of focal automatism seizure characterized by involuntary sexual behavior at onset.	http://purl.obolibrary.org/obo/HP_0032905		
OBO:HP_0032906	Focal head nodding automatism seizure	biolink:OntologyClass	hp		A type of focal automatism seizure characterized by involuntary head nodding at onset.	http://purl.obolibrary.org/obo/HP_0032906		
OBO:HP_0032907	Focal undressing automatism seizure	biolink:OntologyClass	hp		A type of focal automatism seizure characterized by involuntary undressing at onset.	http://purl.obolibrary.org/obo/HP_0032907		
OBO:HP_0032908	Focal aware undressing automatism seizure	biolink:OntologyClass	hp		A type of focal automatism seizure characterized by involuntary undressing at onset and during which awareness is fully retained throughout.	http://purl.obolibrary.org/obo/HP_0032908		
OBO:HP_0032909	Focal impaired awareness automatism seizure	biolink:OntologyClass	hp		A focal seizure with automatism in which awareness is partially or fully impaired at some point during the seizure.	http://purl.obolibrary.org/obo/HP_0032909		
OBO:HP_0032910	Focal aware automatism seizure	biolink:OntologyClass	hp		A type of focal automatism seizure during which awareness is fully retained throughout.	http://purl.obolibrary.org/obo/HP_0032910		
OBO:HP_0032911	Focal aware orofacial automatism seizure	biolink:OntologyClass	hp		A type of focal automatism seizure characterized by orofacial automatisms at onset and during which awareness is fully retained throughout.	http://purl.obolibrary.org/obo/HP_0032911		
OBO:HP_0032912	Focal aware manual automatism seizure	biolink:OntologyClass	hp		A type of focal automatism seizure characterized by manual automatisms at onset and during which awareness is fully retained throughout.	http://purl.obolibrary.org/obo/HP_0032912		
OBO:HP_0032913	Focal aware pedal automatism seizure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032913		
OBO:HP_0032914	Focal aware perseverative automatism seizure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032914		
OBO:HP_0032915	Focal aware vocal automatism seizure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032915		
OBO:HP_0032916	Focal aware verbal automatism seizure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032916		
OBO:HP_0032917	Focal aware sexual automatism seizure	biolink:OntologyClass	hp		A type of focal automatism seizure characterized by involuntary sexual behavior at onset and during which awareness is fully retained throughout.	http://purl.obolibrary.org/obo/HP_0032917		
OBO:HP_0032918	Focal impaired awareness orofacial automatism seizure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032918		
OBO:HP_0032919	Focal aware head nodding automatism seizure	biolink:OntologyClass	hp		A type of focal automatism seizure characterized by involuntary head nodding at onset and during which awareness is fully retained throughout.	http://purl.obolibrary.org/obo/HP_0032919		
OBO:HP_0032920	Focal impaired awareness manual automatism seizure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032920		
OBO:HP_0032921	Focal impaired awareness pedal automatism seizure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032921		
OBO:HP_0032922	Focal impaired awareness perseverative automatism seizure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032922		
OBO:HP_0032923	Focal impaired awareness vocal automatism seizure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032923		
OBO:HP_0032924	Focal impaired awareness verbal automatism seizure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032924		
OBO:HP_0032925	Focal impaired awareness sexual automatism seizure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032925		
OBO:HP_0032926	Focal impaired awareness head nodding automatism seizure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032926		
OBO:HP_0032927	Focal impaired awareness undressing automatism seizure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032927		
OBO:HP_0032928	Elevated CSF neurofilamant light chain	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032928		
OBO:HP_0032929	Abnormal chondrocyte morphology	biolink:OntologyClass	hp		Any abnormal structure of a chondrocyte, which is a polymorphic cell that forms cartilage.	http://purl.obolibrary.org/obo/HP_0032929		
OBO:HP_0032930	Lacunar halos around chondrocytes	biolink:OntologyClass	hp		Concentric rings around the chondrocytes.	http://purl.obolibrary.org/obo/HP_0032930		
OBO:HP_0032931	obsolete Focal impaired awareness cognitive seizure with impaired attention	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0032931		
OBO:HP_0032932	Increased circulating pancreatic triacylglycerol lipase level	biolink:OntologyClass	hp		An increased level of triacylglycerol lipase in the blood circulation (can be measured in serum or plasma).	http://purl.obolibrary.org/obo/HP_0032932		Elevated circulating pancreatic triacylglycerol lipase activity
OBO:HP_0032933	Airway hyperresponsiveness	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032933		
OBO:HP_0032934	Spontaneous cerebrospinal fluid leak	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0032934		
OBO:HP_0032935	Posterior crocodile shagreen of the cornea	biolink:OntologyClass	hp		Grayish, polygonal pattern of opacities with intervening clear zones across the central cornea that resembles crocodile skin.	http://purl.obolibrary.org/obo/HP_0032935		
OBO:HP_0032936	Intrusion symptom	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032936		Re-experiencing symptom
OBO:HP_0032937	Recurrent, involuntary and intrusive distressing memories	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032937		
OBO:HP_0032938	Recurrent trauma-related distressing dreams	biolink:OntologyClass	hp		Recurrent distressing dreams in which the content and/or affect of the dream are related to the traumatic event or events.	http://purl.obolibrary.org/obo/HP_0032938		
OBO:HP_0032939	Physiological reactivity to cues	biolink:OntologyClass	hp		Marked physiological reactions to internal or external cues that symbolize or resemble an aspect of the traumatic event(s).	http://purl.obolibrary.org/obo/HP_0032939		
OBO:HP_0032940	Dissociative reaction	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032940		
OBO:HP_0032941	Intense psychological distress to cues	biolink:OntologyClass	hp		Intense or prolonged psychological distress at exposure to internal or external cues that symbolize or resemble an aspect of the traumatic event or events.	http://purl.obolibrary.org/obo/HP_0032941		
OBO:HP_0032942	Avoidance of stimuli associated with traumatic event	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0032942		
OBO:HP_0032943	Abnormal urine pH	biolink:OntologyClass	hp		A deviation of urine pH from the normal range of 4.5 to 7.8.	http://purl.obolibrary.org/obo/HP_0032943		
OBO:HP_0032944	Alkaline urine	biolink:OntologyClass	hp		Urine pH of 8 or higher.	http://purl.obolibrary.org/obo/HP_0032944		
OBO:HP_0032945	Renal interstitial inflammation	biolink:OntologyClass	hp		Histopathological findings of inflammation of the renal interstitium potentially involving fibrotic as well as non-fibrotic areas, composed of lymphocytes, monocytes, plasma cells.	http://purl.obolibrary.org/obo/HP_0032945		
OBO:HP_0032946	Renal cortical interstitial inflammation	biolink:OntologyClass	hp		Histopathological findings of inflammation of the renal interstitium involving fibrotic as well as non-fibrotic renal cortex, composed of lymphocytes, monocytes, plasma cells.	http://purl.obolibrary.org/obo/HP_0032946		
OBO:HP_0032947	Renal medullary interstitial inflammation	biolink:OntologyClass	hp		Histopathological findings of inflammation of the interstitium of the renal medulla, composed of lymphocytes, monocytes, plasma cells.	http://purl.obolibrary.org/obo/HP_0032947		
OBO:HP_0032948	Renal interstitial fibrosis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032948		
OBO:HP_0032949	Renal interstitial calcium phosphate deposits	biolink:OntologyClass	hp		The presence of interstitial aggregates of purple finely granular/laminated calcium- and phosphate deposits.	http://purl.obolibrary.org/obo/HP_0032949		
OBO:HP_0032950	Abnormal renal tubular lumen morphology	biolink:OntologyClass	hp		Abnormal structure or form of the lumen (opening) of kidney tubules.	http://purl.obolibrary.org/obo/HP_0032950		Abnormal renal tubular luminal morphology
OBO:HP_0032951	Renal tubular viral cytopathic changes	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032951		
OBO:HP_0032952	Usual-type tubular atrophy	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032952		Common-type renal tubular atrophy
OBO:HP_0032953	Renal tubular cytomegalovirus inclusions	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032953		
OBO:HP_0032954	Renal tubular adenovirus inclusions	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032954		
OBO:HP_0032955	Renal tubular polyoma virus inclusions	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032955		
OBO:HP_0032956	Renal tubular herpes simplex virus inclusions	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032956		
OBO:HP_0032957	Dysmorphic hematuria	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032957		Acanthocyturia
OBO:HP_0032958	Urinary oval fat bodies	biolink:OntologyClass	hp		The presence in the urine of desquamated tubular epithelial cells or macrophages filled with lipid droplets.	http://purl.obolibrary.org/obo/HP_0032958		
OBO:HP_0032959	Intratubular calcium oxalate casts	biolink:OntologyClass	hp		Birefringent calcium- and oxalate-containing casts located within the tubuli of the kidney.	http://purl.obolibrary.org/obo/HP_0032959		
OBO:HP_0032960	Intratubular calcium phosphate casts	biolink:OntologyClass	hp		Purple and finely granular/laminated calcium- and phosphate-containing casts located within the tubuli of the kidney.	http://purl.obolibrary.org/obo/HP_0032960		
OBO:HP_0032961	Magnesium ammonium phosphate crystalluria	biolink:OntologyClass	hp		Magnesium ammonium phosphate crystals in the urine.	http://purl.obolibrary.org/obo/HP_0032961		Struvite urinary crystals
OBO:HP_0032962	Tubular microcystic change	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032962		
OBO:HP_0032963	Complex renal cyst	biolink:OntologyClass	hp		A renal cyst characterized by epithelium lined space (squamous/columnar) with septations.	http://purl.obolibrary.org/obo/HP_0032963		
OBO:HP_0032964	Uric acid crystalluria	biolink:OntologyClass	hp		The presence of uric acid crystals in the urine.	http://purl.obolibrary.org/obo/HP_0032964		
OBO:HP_0032965	Interstitial emphysema	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032965		
OBO:HP_0032966	Centrilobular emphysema	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032966		Centriacinar emphysema
OBO:HP_0032967	Panacinar emphysema	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032967		
OBO:HP_0032968	Expiratory air trapping	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032968		
OBO:HP_0032969	Traction bronchiectasis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032969		
OBO:HP_0032970	Traction bronchiolectasis	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0032970		
OBO:HP_0032971	Computed tomographic halo sign	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032971		CT halo sign
OBO:HP_0032972	Nodular-centrilobular without tree-in-bud pattern on pulmonary HRCT	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032972		
OBO:HP_0032973	Abnormal bronchoalveolar lavage fluid morphology	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032973		
OBO:HP_0032974	Abnormal cellular composition of bronchoalveolar fluid	biolink:OntologyClass	hp		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%.	http://purl.obolibrary.org/obo/HP_0032974		Abnormal cell differential of broncho-alveolar fluid
OBO:HP_0032975	Abnormal bronchoalveolar fluid protein level	biolink:OntologyClass	hp		Any deviation from the normal concentration of protein in the bronchoalveolar fluid.	http://purl.obolibrary.org/obo/HP_0032975		Abnormal biochemical composition of broncho-alveolar fluid|Abnormal level of proteins in the broncho-alveolar fluid
OBO:HP_0032976	Elevated bronchoalveolar lavage fluid lymphocyte proportion	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032976		
OBO:HP_0032977	Elevated bronchoalveolar lavage fluid neutrophil proportion	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032977		Elevated level of neutrophils in broncho-alveolar lavage fluid
OBO:HP_0032978	Lipid-laden macrophages in bronchoalveolar fluid	biolink:OntologyClass	hp		Accumulation of lipids in alveolar macrophages with droplet-shaped fat inclusions.	http://purl.obolibrary.org/obo/HP_0032978		
OBO:HP_0032979	Hemosiderin-laden macrophages in bronchoalveolar fluid	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0032979		Accumulation of hemosiderin laden alveolar macrophages|Siderophages in bronchoalveolar fluid
OBO:HP_0032980	Absent bronchoalveolar surfactant-protein C	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032980		
OBO:HP_0032981	Absent bronchoalveolar dimeric surfactant-protein B	biolink:OntologyClass	hp		Significantly decreased level or failed detection of surfactant protein B in broncho-alveolar lavage fluid.	http://purl.obolibrary.org/obo/HP_0032981		
OBO:HP_0032982	obsolete Intraalveolar phospholipid accumulation	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0032982		
OBO:HP_0032983	Atoll sign	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032983		Reversed halo sign
OBO:HP_0032984	Abnormal alveolar macrophage morphology	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032984		
OBO:HP_0032985	Dust particle inclusion in alveolar macrophages	biolink:OntologyClass	hp		Accumulation of inhaled, nondigestable particles in macrophages.	http://purl.obolibrary.org/obo/HP_0032985		
OBO:HP_0032986	Smoker-inclusions in alveolar macrophages	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032986		
OBO:HP_0032987	Elevated bronchoalveolar lavage fluid eosinophil proportion	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032987		
OBO:HP_0032988	Persistent head lag	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032988		Head lag|Headlag
OBO:HP_0032989	Delayed ability to roll over	biolink:OntologyClass	hp		Delayed ahcievement of the ability to roll front to back and back to front.	http://purl.obolibrary.org/obo/HP_0032989		
OBO:HP_0032990	Localized pulmonary hemorrhage	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032990		Localised pulmonary haemorrhage
OBO:HP_0032991	Abnormal pulmonary fissure morphology	biolink:OntologyClass	hp		An abnormal form or number of the pulmonary fissures.	http://purl.obolibrary.org/obo/HP_0032991		
OBO:HP_0032992	Abnormal pulmonary fissure architecture	biolink:OntologyClass	hp		An abnormal form or location of a pulmonary fissure.	http://purl.obolibrary.org/obo/HP_0032992		
OBO:HP_0032993	Abnormal pulmonary fissure count	biolink:OntologyClass	hp		A deviation from the normal number of pulmonary fissures.	http://purl.obolibrary.org/obo/HP_0032993		
OBO:HP_0032994	Supernumerary pulmonary fissure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0032994		increased pulmonary fissure count
OBO:HP_0032995	Decreased pulmonary fissure count	biolink:OntologyClass	hp		Lack of one or more of the normal pulmonary fissures.	http://purl.obolibrary.org/obo/HP_0032995		Reduced pulmonary fissure count
OBO:HP_0032996	Abnormal cystatin C level	biolink:OntologyClass	hp		Any deviation from the normal concentration of cystatin C in serum or plasma.	http://purl.obolibrary.org/obo/HP_0032996		
OBO:HP_0032997	Decreased cystatin C level	biolink:OntologyClass	hp		A decreased concentration of cystatin C in the blood circulation.	http://purl.obolibrary.org/obo/HP_0032997		
OBO:HP_0032998	Increased cystatin C level	biolink:OntologyClass	hp		A elevated concentration of cystatin C in the blood circulation.	http://purl.obolibrary.org/obo/HP_0032998		
OBO:HP_0032999	Increased fecal porphyrin	biolink:OntologyClass	hp		Abnormally high concentration of fecal porphyrins in feces.	http://purl.obolibrary.org/obo/HP_0032999		Increased faecal porphyrin
OBO:HP_0033000	Subglottic laryngitis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033000		Croup|Laryngitis|Pseudocroup|Spasmodic croup|Subglottic laryngitis|Viral croup
OBO:HP_0033001	Laryngeal papilloma	biolink:OntologyClass	hp		A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on the larynx.	http://purl.obolibrary.org/obo/HP_0033001		Laryngeal papillomas|Laryngeal papillomatosis
OBO:HP_0033002	Bronchial papilloma	biolink:OntologyClass	hp		A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on a bronchus.	http://purl.obolibrary.org/obo/HP_0033002		
OBO:HP_0033003	Tracheal papilloma	biolink:OntologyClass	hp		A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on the trachea.	http://purl.obolibrary.org/obo/HP_0033003		
OBO:HP_0033004	Palmar warts	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0033004		
OBO:HP_0033005	Plantar warts	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0033005		
OBO:HP_0033006	Diffuse alveolar damage	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033006		
OBO:HP_0033007	Architectural distortion of the lung	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033007		
OBO:HP_0033008	Increased Z-disc width	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0033008		Increased Z-disk width|Widened z-discs
OBO:HP_0033009	Increased fecal coproporphyrin 1	biolink:OntologyClass	hp		Abnormally high concentration of coproporphyrin 3 in feces.	http://purl.obolibrary.org/obo/HP_0033009		Increased faecal coproporphyrin 1|Elevated fecal coproporphyrin 1|Elevated stool coproporphyrin 1|High fecal coproporphyrin 1|High stool coproporphyrin 1
OBO:HP_0033010	Increased fecal coproporphyrin 3	biolink:OntologyClass	hp		Abnormally high concentration of coproporphyrin 3 in feces	http://purl.obolibrary.org/obo/HP_0033010		Increased faecal coproporphyrin 3|Elevated fecal coproporphyrin 3|Elevated stool coproporphyrin 3|High fecal coproporphyrin 3|High stool coproporphyrin 3
OBO:HP_0033011	Platystencephaly	biolink:OntologyClass	hp		Extreme width of the skull in the occipital region, with anterior narrowing and prognathism.	http://purl.obolibrary.org/obo/HP_0033011		
OBO:HP_0033012	Abnormal salivary metabolite concentration	biolink:OntologyClass	hp		Any deviation from the normal concentration of a metabolite in saliva.	http://purl.obolibrary.org/obo/HP_0033012		
OBO:HP_0033013	Abnormal salivary cortisol level	biolink:OntologyClass	hp		Any deviation from the normal concentration of cortisol in saliva.	http://purl.obolibrary.org/obo/HP_0033013		
OBO:HP_0033014	Decreased salivary cortisol level	biolink:OntologyClass	hp		Abnormally reduced concentration of cortisol in saliva.	http://purl.obolibrary.org/obo/HP_0033014		
OBO:HP_0033015	Increased salivary cortisol level	biolink:OntologyClass	hp		Abnormally elevated concentration of cortisol in saliva.	http://purl.obolibrary.org/obo/HP_0033015		
OBO:HP_0033016	Chronic decreased circulating IgD	biolink:OntologyClass	hp		A lasting reduction beneath the normal level of total immunoglobulin D (IgD) in the blood.	http://purl.obolibrary.org/obo/HP_0033016		Chronic decreased IgM in blood
OBO:HP_0033017	Transient decreased circulating IgD	biolink:OntologyClass	hp		A temporary reduction beneath the normal level of total immunoglobulin D (IgD) in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033017		Transient decreaseed IgD in blood
OBO:HP_0033018	Chronic absent circulating IgD	biolink:OntologyClass	hp		A lasting absence of immunoglobulin D (IgD) in the blood, whereby at most trace quantities of IgD can be measured.	http://purl.obolibrary.org/obo/HP_0033018		Chronic (near) absent IgM in blood
OBO:HP_0033019	Male reproductive system neoplasm	biolink:OntologyClass	hp	NCIT:C3054	A neoplasm that affects the male reproductive system.	http://purl.obolibrary.org/obo/HP_0033019		
OBO:HP_0033020	Female reproductive system neoplasm	biolink:OntologyClass	hp	NCIT:C3053	A neoplasm that affects the female reproductive system.	http://purl.obolibrary.org/obo/HP_0033020		
OBO:HP_0033021	Transient decreased circulating IgE	biolink:OntologyClass	hp		A temporary reduction beneath the normal level of total immunoglobulin E (IgE) in the blood.	http://purl.obolibrary.org/obo/HP_0033021		Transient decreased IgE in blood
OBO:HP_0033022	Chronic decreased circulating IgE	biolink:OntologyClass	hp		A lasting reduction beneath the normal level of total immunoglobulin E (IgE) in the blood.	http://purl.obolibrary.org/obo/HP_0033022		Chronic decreased IgE in blood
OBO:HP_0033023	Chronic absent circulating IgE	biolink:OntologyClass	hp		A lasting absence of immunoglobulin E (IgE) in the blood circulation, whereby at most trace quantities of IgE can be measured.	http://purl.obolibrary.org/obo/HP_0033023		Chronic (near) absent IgE in blood
OBO:HP_0033024	Transient decreased circulating IgA	biolink:OntologyClass	hp		A temporary reduction beneath the normal level of total immunoglobulin A (IgA) in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033024		
OBO:HP_0033025	Chronic absent circulating total IgG	biolink:OntologyClass	hp		A lasting absence of immunoglobulin G (IgG) in the blood, whereby at most trace quantities of IgG can be measured.	http://purl.obolibrary.org/obo/HP_0033025		Chronic (near) absent total IgG in blood
OBO:HP_0033026	White oral mucosal macule	biolink:OntologyClass	hp		A small circumscribed whitish change in the color of the oral mucosa that is neither elevated nor depressed.	http://purl.obolibrary.org/obo/HP_0033026		
OBO:HP_0033027	Retinal peau d'orange	biolink:OntologyClass	hp		A pebbly orange appearance of the fundus that is said to resemble the skin of an orange.	http://purl.obolibrary.org/obo/HP_0033027		
OBO:HP_0033028	Anti-ribonucleoprotein antibody positivity	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0033028		Anti-RNP-antibodies|Anti-Scl-34 antibody positivity|Anti-U3 ribonucleoprotein antibody positivity
OBO:HP_0033029	Anti-Jo-1 antibody positivity	biolink:OntologyClass	hp		The presence of autoantibodies in the serum that react to the histidyl-tRNA-synthetase.	http://purl.obolibrary.org/obo/HP_0033029		
OBO:HP_0033030	Anti-glomerular basement membrane-antibody positivity	biolink:OntologyClass	hp		The presence of autoantibodies in the serum that react to the glomerular basement membrane.	http://purl.obolibrary.org/obo/HP_0033030		Anti-GBM-antibody positivity
OBO:HP_0033031	Hyperpyrexia	biolink:OntologyClass	hp		An extreme elevation of core body temperature above normal defined as a rectal temperature of 41.1 degrees Celsius (106 degrees Fahrenheit).	http://purl.obolibrary.org/obo/HP_0033031		
OBO:HP_0033032	Triggered by an abusive adult	biolink:OntologyClass	hp		Applies to a sign or symptom that is induced by an abusive adult (usually a parent).	http://purl.obolibrary.org/obo/HP_0033032		Munchausen syndrome by proxy
OBO:HP_0033033	Anti-MDA5 antibody positivity	biolink:OntologyClass	hp		The presence of autoantibodies in the serum that react to Anti-MDA5 (Anti-melanoma differentiation-associated proteine 5).	http://purl.obolibrary.org/obo/HP_0033033		Increased level of anti-melanoma differentiation-associated protein 5 antibodies
OBO:HP_0033034	Anti-citrullinated protein antibody positivity	biolink:OntologyClass	hp		The presence autoantibodies in the serum that react do different citrullinated antigens, including filaggrin, fibrinogen, vimentin and collagen.	http://purl.obolibrary.org/obo/HP_0033034		
OBO:HP_0033035	Abnormal Schwann cell morphology	biolink:OntologyClass	hp		Abormality of schwann cells, glial cells that ensheath axons of neurons in the peripheral nervous system and are necessary for their maintenance and function.	http://purl.obolibrary.org/obo/HP_0033035		Abnormal neurilemmal cell morphology|Abnormal neurilemmocyte morphology
OBO:HP_0033036	Decreased nasal nitric oxide	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033036		Low nasal nitric oxide level
OBO:HP_0033037	Migratory arthritis	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0033037		Migratory polyarthritis
OBO:HP_0033038	Anti-RNA-polymerase-III-autoantibody positivity	biolink:OntologyClass	hp		The presence of autoantibodies in the serum that react to RNA-polymerase III.	http://purl.obolibrary.org/obo/HP_0033038		
OBO:HP_0033039	Increased circulating precipitin level	biolink:OntologyClass	hp		The presence of high titers of antigen-precipitating IgG in the serum.	http://purl.obolibrary.org/obo/HP_0033039		Increased level of antigen-precipitating IgG antibodies
OBO:HP_0033040	Anti-Sm-autoantibody positivity	biolink:OntologyClass	hp		The presence of autoantibodies in the serum that react to seven proteins that consist of a core of small nuclear ribonucleoprotein (snRNP) particles.	http://purl.obolibrary.org/obo/HP_0033040		Anti-Smith autoantibody
OBO:HP_0033041	Cytokine storm	biolink:OntologyClass	hp		Excessive or uncontrolled release of proinflammatory cytokines.	http://purl.obolibrary.org/obo/HP_0033041		Hypercytokinemia
OBO:HP_0033042	Abnormal chorion morphology	biolink:OntologyClass	hp		Any structural anomaly of the fetal part of the placenta, which is known as the chorion.	http://purl.obolibrary.org/obo/HP_0033042		
OBO:HP_0033043	Edematous chorionic villi	biolink:OntologyClass	hp		Swelling of the chorionic villi owing to fluid accumulation.	http://purl.obolibrary.org/obo/HP_0033043		
OBO:HP_0033044	Motor regression	biolink:OntologyClass	hp		Loss of previously achieved motor skills, as manifested by loss of developmental motor milestones.	http://purl.obolibrary.org/obo/HP_0033044		Regression of motor skills
OBO:HP_0033045	Bipedal edema	biolink:OntologyClass	hp		A palpable swelling in both feet and ankles caused by palpable swelling caused by an increase in interstitial fluid volume (excess fulid).	http://purl.obolibrary.org/obo/HP_0033045		Bipedal oedema
OBO:HP_0033046	Michaelis-Gutmann bodies	biolink:OntologyClass	hp		Basophilic intracytoplasmic inclusions in macrophages. The inclusions have a small, round laminated appearance. Electron microscopy of Michaelis-Gutmann bodies exhibits partially digested bacteria.	http://purl.obolibrary.org/obo/HP_0033046		Malakoplakia
OBO:HP_0033047	Body ache	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033047		
OBO:HP_0033048	Substantia nigra hypointensity on susceptibility-weighted imaging	biolink:OntologyClass	hp		Hypointence (dark) appearance of the substantia nigra inmagnetic resonance imaging using susceptibility weighted imaging (SWI).	http://purl.obolibrary.org/obo/HP_0033048		Low signal intensity in the substantia nigra on susceptibility-weighted imaging (SWI)
OBO:HP_0033049	Globus pallidus hypointensity on susceptibility-weighted imaging	biolink:OntologyClass	hp		Hypointence (dark) appearance of the globus pallidus inmagnetic resonance imaging using susceptibility weighted imaging (SWI).	http://purl.obolibrary.org/obo/HP_0033049		
OBO:HP_0033050	Pharyngalgia	biolink:OntologyClass	hp		An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the throat.	http://purl.obolibrary.org/obo/HP_0033050		Sore throat|Throat pain|Pharyngodynia
OBO:HP_0033051	Impaired executive functioning	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033051		
OBO:HP_0033052	Psychogenic non-epileptic seizure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033052		
OBO:HP_0033053	Pseudoseizure	biolink:OntologyClass	hp		Sudden, involuntary seizure-like attacks that, unlike epileptic seizures, are not related to electrographic ictal discharges.	http://purl.obolibrary.org/obo/HP_0033053		
OBO:HP_0033054	Myoclonic tremor	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033054		
OBO:HP_0033055	Impaired ability to plan	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033055		Ineffective planning
OBO:HP_0033056	Impaired ability to organize	biolink:OntologyClass	hp		Impaired ability to bring order to information, actions, or materials to achieve a goal or to follow an established organized routine.	http://purl.obolibrary.org/obo/HP_0033056		Impaired ability to organise
OBO:HP_0033057	Decreased serum terminal complement component	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033057		
OBO:HP_0033058	Decreased serum complement C7	biolink:OntologyClass	hp		A reduced level of the complement component C7 in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033058		
OBO:HP_0033059	Decreased serum complement C6	biolink:OntologyClass	hp		A reduced level of the complement component C6 in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033059		
OBO:HP_0033060	Decreased serum complement C5	biolink:OntologyClass	hp		A reduced level of the complement component C5 in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033060		
OBO:HP_0033061	Increased factor IX activity	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033061		
OBO:HP_0033062	Abnormal factor IX activity	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033062		
OBO:HP_0033063	Shortened sleep cycle	biolink:OntologyClass	hp		A tendency to sleep less hours than usual while feeling well rested.	http://purl.obolibrary.org/obo/HP_0033063		Short sleep
OBO:HP_0033064	Renal interstitial globotriaosylceramide inclusions	biolink:OntologyClass	hp		Accumulation of globotriaosylceramide (GL-3) in kidney tissues, which can be quantified as the number of globotriaosylceramide (GL-3) inclusions/kidney interstitial capillary (KIC).	http://purl.obolibrary.org/obo/HP_0033064		
OBO:HP_0033065	Mild albuminuria	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0033065		
OBO:HP_0033066	Severe albuminuria	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0033066		Heavy albuminuria
OBO:HP_0033067	Cystine crystalluria	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0033067		
OBO:HP_0033068	Medication crystalluria	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033068		
OBO:HP_0033069	Renal interstitial IgG4+ plasma cell infiltration	biolink:OntologyClass	hp		An increased number of IgG4+ plasma cells in the interstitial space of the kidney.	http://purl.obolibrary.org/obo/HP_0033069		
OBO:HP_0033070	Impaired self monitoring	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033070		
OBO:HP_0033071	Impaired task monitoring	biolink:OntologyClass	hp		Impaired ability to keep track of one's problem-solving success or failure, and to identify and correct mistakes during performance of a goal.	http://purl.obolibrary.org/obo/HP_0033071		
OBO:HP_0033072	Abnormal macroscopic urine appearance	biolink:OntologyClass	hp		Anomalous physical appearance (color, cloudiness, clarity) or odor of urine.	http://purl.obolibrary.org/obo/HP_0033072		
OBO:HP_0033073	Urate tophus	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033073		Urate tophi
OBO:HP_0033074	Steroid-responsive anemia	biolink:OntologyClass	hp		Amelioration of anemia upon treatment with a steroid medication.	http://purl.obolibrary.org/obo/HP_0033074		Steroid-responsive anaemia|Prednisone-responsive anemia
OBO:HP_0033075	Inappropriately normal thyroid-stimulating hormone level	biolink:OntologyClass	hp		A normal or elevated serum thyroid-stimulating hormone (TSH) level in the face of an elevation in circulating FT4 and/or FT3.	http://purl.obolibrary.org/obo/HP_0033075		Inappropriately normal TSH
OBO:HP_0033076	Abnormal circulating free T4 level	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033076		Abnormal circulating free thyroxine level
OBO:HP_0033077	Increased circulating free T4 level	biolink:OntologyClass	hp		An elevated concentration of free thyroxine (fT4) in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033077		
OBO:HP_0033078	Decreased circulating free T4 level	biolink:OntologyClass	hp		A reduced concentration of free thyroxine (fT4) in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033078		
OBO:HP_0033079	Aplasia/Hypoplasia of the thyroid gland	biolink:OntologyClass	hp		Absence or underdevelopment of the thyroid gland.	http://purl.obolibrary.org/obo/HP_0033079		
OBO:HP_0033080	Abnormal TSH response to thyrotrophin-releasing hormone stimulation test	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033080		Abnormal TSH response to TRH stimulation test
OBO:HP_0033081	Absent TSH response to thyrotrophin-releasing hormone stimulation test	biolink:OntologyClass	hp		Failure to increase serum TSH levels in response to a TRH stimulation test.	http://purl.obolibrary.org/obo/HP_0033081		
OBO:HP_0033082	Reduced TSH response to thyrotrophin-releasing hormone stimulation test	biolink:OntologyClass	hp		A lower than normal TSH response to thyrotrophin-releasing hormone stimulation test.	http://purl.obolibrary.org/obo/HP_0033082		
OBO:HP_0033083	Increased circulating farnesol concentration	biolink:OntologyClass	hp		An elevated level of farnesol in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033083		
OBO:HP_0033084	Abnormal antral follicle count	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033084		
OBO:HP_0033085	Reduced antral follicle count	biolink:OntologyClass	hp		A count of antral follicles that is lower than normal for age.	http://purl.obolibrary.org/obo/HP_0033085		
OBO:HP_0033086	Increased antral follicle count	biolink:OntologyClass	hp		A count of antral follicles that is higher than normal for age.	http://purl.obolibrary.org/obo/HP_0033086		
OBO:HP_0033087	Quotidian fever	biolink:OntologyClass	hp		Fever that occurs at daily intervals.	http://purl.obolibrary.org/obo/HP_0033087		
OBO:HP_0033088	Valinuria	biolink:OntologyClass	hp		Urine valine level above the normal range.	http://purl.obolibrary.org/obo/HP_0033088		Increased valine in urine
OBO:HP_0033089	Branched-chain aminoaciduria	biolink:OntologyClass	hp		An increased level of a branched chain family amino acid in the urine.	http://purl.obolibrary.org/obo/HP_0033089		
OBO:HP_0033090	Increased aromatic amino acid level in urine	biolink:OntologyClass	hp		An elevated level of an aromatic amino acid in the urine.	http://purl.obolibrary.org/obo/HP_0033090		
OBO:HP_0033091	Tyrosinuria	biolink:OntologyClass	hp		An abnormally increased level of tyrosine in the urine.	http://purl.obolibrary.org/obo/HP_0033091		Increased tyrosine in urine
OBO:HP_0033092	Increased urine succinate level	biolink:OntologyClass	hp		An increase in the level of succinate in the urine.	http://purl.obolibrary.org/obo/HP_0033092		
OBO:HP_0033093	Increased glutamine family amino acid level in urine	biolink:OntologyClass	hp		An elevated level of an glutamine family amino acid in the urine.	http://purl.obolibrary.org/obo/HP_0033093		
OBO:HP_0033094	Increased urine glutamate level	biolink:OntologyClass	hp		An increased concentration of glutamate in the urine.	http://purl.obolibrary.org/obo/HP_0033094		Increased glutamic acid in urine
OBO:HP_0033095	Increased sulfur amino acid level in urine	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0033095		Increased sulphur amino acid level in urine|An elevated level of a sulfur-containing amino acid in the urine.|Increased sulfur-containing amino acid level in urine
OBO:HP_0033096	Increased aspartate family amino acid level in urine	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0033096		An elevated level of an aspartate family amino acid in the urine.
OBO:HP_0033097	Increased urine proteinogenic amino acid derivative level	biolink:OntologyClass	hp		An elevated urine level of a compound that is derived from an amino acid.	http://purl.obolibrary.org/obo/HP_0033097		
OBO:HP_0033098	Increased urinary non-proteinogenic amino acid level	biolink:OntologyClass	hp		An increased level in the urine of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids.	http://purl.obolibrary.org/obo/HP_0033098		Elevated urinary non-proteinogenic amino acid level
OBO:HP_0033099	Increased serine family amino acid in urine	biolink:OntologyClass	hp		An increased level of a serine family amino acid in the urine.	http://purl.obolibrary.org/obo/HP_0033099		
OBO:HP_0033100	Increased proteinogenic amino acid level in urine	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033100		
OBO:HP_0033101	Elevated urine aconitic acid level	biolink:OntologyClass	hp		An abnormally increased level of aconitic acid in the urine.	http://purl.obolibrary.org/obo/HP_0033101		
OBO:HP_0033102	Monkey wrench femoral neck	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033102		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
OBO:HP_0033103	Elevated circulating CHI3L1 level	biolink:OntologyClass	hp		Increased concentration of chitinase 3-like 1 (CHI3L1) in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033103		Elevated circulating YKL40 level|Elevated circulating chitinase 3-like 1 level
OBO:HP_0033104	Inappropriate absence of fever	biolink:OntologyClass	hp		Failure to develop fever in the presence of an infection that normally would be expected to elicit a febrile response.	http://purl.obolibrary.org/obo/HP_0033104		
OBO:HP_0033105	Interhypothalamic Adhesion	biolink:OntologyClass	hp		An abnormal parenchymal band connecting the medial margins of the left and right hypothalami across the third ventricle.	http://purl.obolibrary.org/obo/HP_0033105		Hypothalamic adhesion
OBO:HP_0033106	Elevated D-dimers	biolink:OntologyClass	hp		An increased concentration of D-dimers, a marker of fibrin degradation, in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033106		
OBO:HP_0033107	Abnormal circulating proteinogenic amino acid concentration	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033107		
OBO:HP_0033108	Abnormal circulating proteinogenic amino acid derivative concentration	biolink:OntologyClass	hp		Any deviation from the normal concentration in the blood circulation of a compound that is derived from an amino acid.	http://purl.obolibrary.org/obo/HP_0033108		
OBO:HP_0033109	Abnormal circulating non-proteinogenic amino acid concentration	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033109		
OBO:HP_0033110	Elevated circulating alpha-aminobutyric acid concentration	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033110		Elevated circulating homoalanine concentration
OBO:HP_0033111	3-hydroxyisovaleric aciduria	biolink:OntologyClass	hp		Concentration of 3-hydroxyisovaleric acid in the urine above the normal range.	http://purl.obolibrary.org/obo/HP_0033111		Increased urine 3-hydroxyisovaleric acid level
OBO:HP_0033112	Elevated circulating apolipoprotein C-III concentration	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033112		Elevated APOC3 level|Elevated apolipoprotein C-III level
OBO:HP_0033113	Gallop rhythm	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033113		Triple rhythm
OBO:HP_0033114	Quadruple gallop rhythm	biolink:OntologyClass	hp		A type of gallop rhytm in which both the third and the fourth sounds are present.	http://purl.obolibrary.org/obo/HP_0033114		
OBO:HP_0033115	Elevated circulating tenascin-C level	biolink:OntologyClass	hp		Abnormally increased concentration of tenascin-C in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033115		
OBO:HP_0033116	Duodenal gastric metaplasia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033116		
OBO:HP_0033117	Duodenitis	biolink:OntologyClass	hp		Inflammation of the lining of the upper small intestine (duodenum).	http://purl.obolibrary.org/obo/HP_0033117		
OBO:HP_0033118	Abnormal right ventricular function	biolink:OntologyClass	hp		Anomalous physiology (function) of the right ventricle.	http://purl.obolibrary.org/obo/HP_0033118		
OBO:HP_0033119	Elevated right ventricular systolic pressure	biolink:OntologyClass	hp		Elevation of right ventricular systolic pressure (RVSP) above normal limits. In adults, RVSP is normally 20-30 mmHg.	http://purl.obolibrary.org/obo/HP_0033119		
OBO:HP_0033120	Nummular eczema	biolink:OntologyClass	hp		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	http://purl.obolibrary.org/obo/HP_0033120		Discoid eczema|Nummular dermatitis
OBO:HP_0033121	Barking cough	biolink:OntologyClass	hp		A cough with a characteristic sound that has been compared to a seal's bark.	http://purl.obolibrary.org/obo/HP_0033121		Seal-like barking cough
OBO:HP_0033122	Absent P wave	biolink:OntologyClass	hp		The P wave that normally precedes each QRS complex by a fixed PR interval of 120 to 200 milliseconds is not present.	http://purl.obolibrary.org/obo/HP_0033122		Absence of P wave on electrocardiography
OBO:HP_0033123	Elevated circulating osteopontin level	biolink:OntologyClass	hp		Abnormally increased level of osteopontin in the blood circulation	http://purl.obolibrary.org/obo/HP_0033123		
OBO:HP_0033124	Increased serum sorbitol concentration	biolink:OntologyClass	hp		An increased level of sorbitol in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033124		
OBO:HP_0033125	Follicular lymphoma	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033125		
OBO:HP_0033126	Cutaneous necrosis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033126		Skin necrosis
OBO:HP_0033127	Abnormality of the musculoskeletal system	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033127		
OBO:HP_0033128	Delayed ability to crawl	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033128		
OBO:HP_0033129	Abnormal shoulder physiology	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033129		
OBO:HP_0033130	Abnormal renal echogenicity	biolink:OntologyClass	hp		Anomalous echogenicity of the kidney on ultrasound examination.	http://purl.obolibrary.org/obo/HP_0033130		
OBO:HP_0033131	Renal medullary hyperechogenicity	biolink:OntologyClass	hp		Increased echogenecity of the medullary region of the kidney.	http://purl.obolibrary.org/obo/HP_0033131		Increased renal medullary echogenicity
OBO:HP_0033132	Renal cortical hyperechogenicity	biolink:OntologyClass	hp		Increased echogenecity of the kidney cortex.	http://purl.obolibrary.org/obo/HP_0033132		
OBO:HP_0033133	Renal cortical hypoechogeneity	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0033133		Hypoechogenic renal cortex
OBO:HP_0033134	Abdominal adhesions	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0033134		Intra-abdominal adhesion
OBO:HP_0033135	Hepatic infarction	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033135		
OBO:HP_0033136	Lymph node abscess	biolink:OntologyClass	hp		An inflammed lymph node that is filled with pus.	http://purl.obolibrary.org/obo/HP_0033136		
OBO:HP_0033137	Abnormal pulmonary alveolar system morphology	biolink:OntologyClass	hp		A structural abnormality of the pulmonary acinus, alveolar parenchyma, or alveoli.	http://purl.obolibrary.org/obo/HP_0033137		
OBO:HP_0033138	Right atrial thrombus	biolink:OntologyClass	hp		A thrombus (i.e., a blood clot formed in situ within the vascular system) located in the right atrium of the heart.	http://purl.obolibrary.org/obo/HP_0033138		
OBO:HP_0033139	Elevated circulating uracil concentration	biolink:OntologyClass	hp		Concentration of uracil in the blood is above the normal range.	http://purl.obolibrary.org/obo/HP_0033139		
OBO:HP_0033140	Blake's pouch cyst	biolink:OntologyClass	hp		The presence of an upwardly displaced normal cerebellar vermis, normal appearance of the fastigium, tentorium and size of the cisterna magna.	http://purl.obolibrary.org/obo/HP_0033140		
OBO:HP_0033141	Severe SARS-CoV-2 infection	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033141		
OBO:HP_0033142	Long nasal bridge	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033142		
OBO:HP_0033143	Jejunitis	biolink:OntologyClass	hp		Inflammation of the lining of the middle section of the small intestine.	http://purl.obolibrary.org/obo/HP_0033143		
OBO:HP_0033144	Abnormal circulating ceruloplasmin concentration	biolink:OntologyClass	hp		Any deviation of the concentration of ceruloplasmin in the blood from the normal range.	http://purl.obolibrary.org/obo/HP_0033144		
OBO:HP_0033145	Increased circulating ceruloplasmin concentration	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0033145		Elevated concentration of ceruloplasmin in the blood circulation.
OBO:HP_0033146	Elevated circulating methylsuccinic acid concentration	biolink:OntologyClass	hp		Increased concentration of methylsuccinic acid in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033146		
OBO:HP_0033147	Abnormal circulating short-chain fatty-acid concentration	biolink:OntologyClass	hp		Any deviation from the normal concentration of a short-chain fatty acid in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033147		
OBO:HP_0033148	Increased circulating isovaleric acid concentration	biolink:OntologyClass	hp		Increased concentration of isovaleric acid, a C5, branched-chain saturated fatty acid, in the blood concentration.	http://purl.obolibrary.org/obo/HP_0033148		Increased circulating isovalerate|Isovalericacidemia
OBO:HP_0033149	Intrahepatic bile duct dilatation	biolink:OntologyClass	hp		Increased diameter (caliber) of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts).	http://purl.obolibrary.org/obo/HP_0033149		Dilatation of intrahepatic biliary ducts
OBO:HP_0033150	Anorectal abscess	biolink:OntologyClass	hp		An abscess located at the junction of the anal canal and the rectum.	http://purl.obolibrary.org/obo/HP_0033150		
OBO:HP_0033151	Abnormal pharynx morphology	biolink:OntologyClass	hp		A structural anomaly of the pharynx.	http://purl.obolibrary.org/obo/HP_0033151		
OBO:HP_0033152	Abnormal pharynx physiology	biolink:OntologyClass	hp		A functional anomaly of the pharynx.	http://purl.obolibrary.org/obo/HP_0033152		
OBO:HP_0033153	Elevated circulating dodecenoylcarnitine concentration	biolink:OntologyClass	hp		An abnormally increased circulation of dodecenoylcarnitine, C12:1, in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033153		Elevated plasma dodecenoylcarnitine concentration
OBO:HP_0033154	Elevated circulating deoxypyridinoline concentration	biolink:OntologyClass	hp		An increased concentration of lysyl-pyridinoline (deoxypyridinoline) cross-links in the bloood circulation.	http://purl.obolibrary.org/obo/HP_0033154		
OBO:HP_0033155	Elevated circulating L-alloisoleucine concentration	biolink:OntologyClass	hp		Abnormally increased concentration of L-alloisoleucine in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033155		
OBO:HP_0033156	Elevated urine L-alloisoleucine level	biolink:OntologyClass	hp		Abnormally increased level of L-alloisoleucine in the urine.	http://purl.obolibrary.org/obo/HP_0033156		
OBO:HP_0033157	Elevated circulating 3-methylhistidine concentration	biolink:OntologyClass	hp		Abnormal increase of the concentration of 3-methylhistidine in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033157		
OBO:HP_0033158	Reduced respiratory ciliary beating frequency	biolink:OntologyClass	hp		An abnormal reduction in the number of beats per unit time of the respiratory cilia.	http://purl.obolibrary.org/obo/HP_0033158		Dminished respiratory ciliary beat frequency
OBO:HP_0033159	Reduced urinary inosine level	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033159		
OBO:HP_0033160	Decreased urinary guanosine level	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033160		
OBO:HP_0033161	Abnormal urinary purine level	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033161		
OBO:HP_0033162	Abnormal urinary pyrimidine level	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033162		
OBO:HP_0033163	Small intestinal bacterial overgrowth	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033163		
OBO:HP_0033164	Focal active colitis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033164		
OBO:HP_0033165	Necrotizing enterocolitis	biolink:OntologyClass	hp		Inflammation of the intestine leading to bacterial invasion causing cellular damage and death which causes necrosis of the colon and intestine.	http://purl.obolibrary.org/obo/HP_0033165		
OBO:HP_0033166	Recurrent viral upper respiratory tract infections	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0033166		
OBO:HP_0033167	Neutrophilic urticarial dermatosis	biolink:OntologyClass	hp		A neutrophilic interstitial, perivascular and/or perieccrine infiltrate with leukocytoclasia. Notably, leukocytoclastic vasculitis is not present.	http://purl.obolibrary.org/obo/HP_0033167		
OBO:HP_0033168	Reduced mevalonate kinase activity	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033168		
OBO:HP_0033169	Reduced total lung capacity	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0033169		Reduced TLC|Abnormally reduced volume of air in the lungs upon the maximum effort of inspiration.
OBO:HP_0033170	Abnormal skinfold thickness measurement	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033170		
OBO:HP_0033171	Abnormal triceps skinfold thickness	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033171		
OBO:HP_0033172	Increased triceps skinfold thickness	biolink:OntologyClass	hp		Increased thickness of the triceps skinfold, which is measured halfway down the back of the upper arm is increased.	http://purl.obolibrary.org/obo/HP_0033172		
OBO:HP_0033173	Milky appearance of bronchoalveolar lavage fluid	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033173		
OBO:HP_0033174	Bloody bronchoalveolar lavage fluid	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033174		
OBO:HP_0033175	Elevated circulating 5-oxoproline concentration	biolink:OntologyClass	hp		Concentration of L-pyroglutamic acid in the blood is above the normal range.	http://purl.obolibrary.org/obo/HP_0033175		Elevated circulating L-pyroglutamic acid concentration
OBO:HP_0033176	Submandibular lymph node enlargement	biolink:OntologyClass	hp		Increased size of the lymph nodes that are located beneath the mandible (lower jaw).	http://purl.obolibrary.org/obo/HP_0033176		Submandibular lymphadenopathy
OBO:HP_0033177	Elevated circulating suberic acid concentration	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033177		
OBO:HP_0033178	Increased circulating interleukin 8	biolink:OntologyClass	hp		An increased concentration of interleukin-8 in the circulation.	http://purl.obolibrary.org/obo/HP_0033178		Increased serum IL-8|Increased serum interleukin 8|Increased serum interleukin-8
OBO:HP_0033179	Elevated circulating aconitic acid concentration	biolink:OntologyClass	hp		An increased concentration of aconitic acid in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033179		
OBO:HP_0033180	Torsion of appendix of testis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033180		Twisted vestigial remnant of the Muellerian duct
OBO:HP_0033181	Spinal epidural abscess	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0033181		A severe pyogenic infection of the epidural space.
OBO:HP_0033182	Increased circulating cathepsin D level	biolink:OntologyClass	hp		An increase in concentration of cathepsin D in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033182		
OBO:HP_0033183	Bilobed right lung	biolink:OntologyClass	hp		A developmental defect of pulmonary lobation characterized by the presence of only two lobes of the right lung.	http://purl.obolibrary.org/obo/HP_0033183		
OBO:HP_0033184	Triggered by infection	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0033184		
OBO:HP_0033185	Triggered by EBV infection	biolink:OntologyClass	hp		Applies to a sign or symptom that is provoked or brought about by infection by the Epstein-Barr virus.	http://purl.obolibrary.org/obo/HP_0033185		Triggered by Epstein Barr virus infection
OBO:HP_0033186	Misalignment of the pulmonary veins	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033186		
OBO:HP_0033187	Hyperimidodipeptiduria	biolink:OntologyClass	hp		Elevated levels of proline-containing dipeptides in urine.	http://purl.obolibrary.org/obo/HP_0033187		Imidodipeptiduria
OBO:HP_0033188	Cystic acne	biolink:OntologyClass	hp		A severe type of acne characterized by the formation of cysts enclosing a mixture of keratin and sebum.	http://purl.obolibrary.org/obo/HP_0033188		
OBO:HP_0033189	Radiculomegaly	biolink:OntologyClass	hp		Elongated tooth root.	http://purl.obolibrary.org/obo/HP_0033189		Long dental root|Root gigantism
OBO:HP_0033190	Hypertrichotic hyperpigmented patch	biolink:OntologyClass	hp		A large nonpalpable spot of the skin over 1 cm in dimension with increased pigmentation and increased hair growth.	http://purl.obolibrary.org/obo/HP_0033190		Cutaneous hyperpigmentation with overlying hypertrichosis
OBO:HP_0033191	Increased circulating selenium concentration	biolink:OntologyClass	hp		An increased concentration of selenium in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033191		
OBO:HP_0033192	Decreased circulating selenium concentration	biolink:OntologyClass	hp		An abnormally reduced concentration of selenium in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033192		
OBO:HP_0033193	Ballooning hepatocyte degeneration	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033193		Ballooning degeneration of hepatocytes
OBO:HP_0033194	Perioral erythema	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033194		
OBO:HP_0033195	Perianal erythema	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033195		
OBO:HP_0033196	Portal inflammation	biolink:OntologyClass	hp		Infiltration of portal fields by inflammatory cells.	http://purl.obolibrary.org/obo/HP_0033196		Hepatic portal inflammation
OBO:HP_0033197	Hepatic lobular inflammation	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0033197		
OBO:HP_0033198	Triggered by viral infection	biolink:OntologyClass	hp		Applies to a sign or symptom that is provoked or brought about by infection by a virus.	http://purl.obolibrary.org/obo/HP_0033198		
OBO:HP_0033199	Increased circulating interleukin 10	biolink:OntologyClass	hp		An elevation of the concentration of interleukin 10 in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033199		Increased serum interleukin 10
OBO:HP_0033200	Triceps hyporeflexia	biolink:OntologyClass	hp		Reduced intensity of the triceps tendon reflex.	http://purl.obolibrary.org/obo/HP_0033200		Hyporeflexia of triceps
OBO:HP_0033201	Biceps hyporeflexia	biolink:OntologyClass	hp		Reduced intensity of the biceps tendon reflex.	http://purl.obolibrary.org/obo/HP_0033201		Hyporeflexia of biceps
OBO:HP_0033202	Brachioradialis hyporeflexia	biolink:OntologyClass	hp		Reduced intensity of the brachioradialis tendon reflex.	http://purl.obolibrary.org/obo/HP_0033202		
OBO:HP_0033203	Brachioradialis hyperreflexia	biolink:OntologyClass	hp		Increased intensity of the brachioradialis reflex.	http://purl.obolibrary.org/obo/HP_0033203		
OBO:HP_0033204	Triceps hyperreflexia	biolink:OntologyClass	hp		Increased intensity of the triceps reflex.	http://purl.obolibrary.org/obo/HP_0033204		
OBO:HP_0033205	Biceps hyperreflexia	biolink:OntologyClass	hp		Increased intensity of the biceps reflex.	http://purl.obolibrary.org/obo/HP_0033205		
OBO:HP_0033206	Hyperactive Achilles reflex	biolink:OntologyClass	hp		Increased intensity of the Achilles reflex.	http://purl.obolibrary.org/obo/HP_0033206		Hyperactive ankle jerk reflex|Hyperactive ankle reflex
OBO:HP_0033207	Increased proportion autoreactive unresponsive CD21-/low B cells	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033207		
OBO:HP_0033208	Alveolar capillary dysplasia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033208		
OBO:HP_0033209	Acinar dysplasia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033209		
OBO:HP_0033210	Congenital alveolar dysplasia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033210		
OBO:HP_0033211	Decreased total iron binding capacity	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033211		
OBO:HP_0033212	Abnormal total iron binding capacity	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033212		
OBO:HP_0033213	Elevated urine suberic acid level	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033213		Elevated urine octanedioic acid level
OBO:HP_0033214	Recurrent viral pneumonia	biolink:OntologyClass	hp		Increased susceptibility to viral pneumonia, as manifested by recurrent episodes of viral pneumonias.	http://purl.obolibrary.org/obo/HP_0033214		
OBO:HP_0033215	Obliterative abnormality of the renal glomerulus	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0033215		
OBO:HP_0033216	Glomerular hyalinosis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033216		
OBO:HP_0033217	Perihilar glomerular hyalinosis	biolink:OntologyClass	hp		Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the vascular pole/perihilum.	http://purl.obolibrary.org/obo/HP_0033217		
OBO:HP_0033218	Glomerular hyalinosis at the tubular pole	biolink:OntologyClass	hp		Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the tip/tubular pole.	http://purl.obolibrary.org/obo/HP_0033218		
OBO:HP_0033219	Glomerular hyalinosis away from the vascular and tubular poles	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033219		
OBO:HP_0033220	2-ethylhydracylic aciduria	biolink:OntologyClass	hp		An increased concentration of 2-ethylhydracylic acid in the urine.	http://purl.obolibrary.org/obo/HP_0033220		Elevated urinary 2-ethylhydracylic acid|Elevated urinary 2-methylbutyrylglycine
OBO:HP_0033221	Increased CD4:CD8 ratio	biolink:OntologyClass	hp		An abnormal elevation of the relative proportion of CD4+ to CD8+ T cells.	http://purl.obolibrary.org/obo/HP_0033221		
OBO:HP_0033222	Decreased CD4:CD8 ratio	biolink:OntologyClass	hp		An abnormal reduction of the relative proportion of CD4+ to CD8+ T cells.	http://purl.obolibrary.org/obo/HP_0033222		Inverted CD4/CD8 ratio|Inverted CD4:CD8 ratio
OBO:HP_0033223	Abnormal glomerular parietal epithelial cell morphology	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033223		
OBO:HP_0033224	Glomerular parietal epithelial cell hyperplasia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033224		Hyperplasia of the glomerular parietal epithelial cell
OBO:HP_0033225	Glomerular parietal epithelial cell hypertrophy	biolink:OntologyClass	hp		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	http://purl.obolibrary.org/obo/HP_0033225		Hypertrophy of the glomerular parietal epithelial cell
OBO:HP_0033226	Bowman capsular hyaline drops	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033226		Capsular hyaline drops within Bowman's capsule
OBO:HP_0033227	Glomerular synechial adhesion	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033227		
OBO:HP_0033228	Triceps areflexia	biolink:OntologyClass	hp		Inability to elicit triceps tendon reflex.	http://purl.obolibrary.org/obo/HP_0033228		Areflexia of triceps
OBO:HP_0033229	Brachioradialis areflexia	biolink:OntologyClass	hp		Inability to elicit brachioradialis tendon reflex.	http://purl.obolibrary.org/obo/HP_0033229		Areflexia of brachioradialis
OBO:HP_0033230	Biceps areflexia	biolink:OntologyClass	hp		Inability to elicit biceps tendon reflex.	http://purl.obolibrary.org/obo/HP_0033230		Areflexia of biceps
OBO:HP_0033231	Abnormal glomerular mesangial cellularity	biolink:OntologyClass	hp		Abnormal number of its constituent cells of the mesangium of the glomerulus of the kidney.	http://purl.obolibrary.org/obo/HP_0033231		
OBO:HP_0033232	Abnormal glomerular mesangial matrix morphology	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033232		
OBO:HP_0033233	Paramesangial deposits	biolink:OntologyClass	hp		Mesangial immune deposit located adjacent to the paramesangial glomerular basement membrane.	http://purl.obolibrary.org/obo/HP_0033233		
OBO:HP_0033234	Mesangial hyaline deposition	biolink:OntologyClass	hp		Extracellular mesangial accumulation of moderately electron-dense, generally homogenous, amorphous-appearing extracellular material.	http://purl.obolibrary.org/obo/HP_0033234		
OBO:HP_0033235	Difficulty descending stairs	biolink:OntologyClass	hp		Reduced ability to desscend stairs.	http://purl.obolibrary.org/obo/HP_0033235		Difficulty walking down stairs
OBO:HP_0033236	Cognitive fatigue	biolink:OntologyClass	hp		A failure to sustain attention that requires self-motivation to optimize performance.	http://purl.obolibrary.org/obo/HP_0033236		Central fatigue
OBO:HP_0033237	Visceral epithelial cell detachment	biolink:OntologyClass	hp		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'.	http://purl.obolibrary.org/obo/HP_0033237		Detachment of visceral epithelial cells|Podocyte detachment
OBO:HP_0033238	Podocyte microvillous transformation	biolink:OntologyClass	hp		Cytoplasmic projections into the urinary space from the luminal side of the podocyte.	http://purl.obolibrary.org/obo/HP_0033238		
OBO:HP_0033239	Visceral epithelial cell capping	biolink:OntologyClass	hp		Layer of hypertrophied visceral epithelial cells overlying a sclerosed segment of the tuft of the glomerulus.	http://purl.obolibrary.org/obo/HP_0033239		Podocyte cap
OBO:HP_0033240	Elevated RV/TLC ratio	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033240		Hyperinflation on pulmonary function test|Overinflation on pulmonary function test
OBO:HP_0033241	Polyalveolar lobe	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033241		
OBO:HP_0033242	Horseshoe lung	biolink:OntologyClass	hp		A horseshoe lung is an uncommon congenital abnormality caused by the partial fusion of the bases of both lungs behind the pericardial sac.	http://purl.obolibrary.org/obo/HP_0033242		
OBO:HP_0033243	Pulmonary necrosis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033243		
OBO:HP_0033244	Glycogen accumulation in pulmonary interstitial cells	biolink:OntologyClass	hp		Accumulation of immature interstitial cells containing abundant cytoplasmic glycogen defined by periodic acid-Schiff (PAS) positive cells.	http://purl.obolibrary.org/obo/HP_0033244		
OBO:HP_0033245	Abnormal alveolar type II pneumocyte morphology	biolink:OntologyClass	hp		Any structural abnormality of alveolar type 2 (ATII) cells.	http://purl.obolibrary.org/obo/HP_0033245		Abnormal alveolar epithelial type II cell morphology|Abnormal pulmonary type II cell morphology|Abnormal type II pneumocyte morphology
OBO:HP_0033246	Type II pneumocyte hypertrophy	biolink:OntologyClass	hp		Increase in size of type II pneumocytes.	http://purl.obolibrary.org/obo/HP_0033246		Hypertrophic alveolar type II cells|Hypertrophic alveolar type II pneumocytes
OBO:HP_0033247	Pulmonary amyloidosis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033247		
OBO:HP_0033248	Multiple pulmonary interstitial hyalinized nodules	biolink:OntologyClass	hp		Fibrosing nodules, consisting of either unilateral or bilateral central whorled deposits of lamellar collagen hyalin.	http://purl.obolibrary.org/obo/HP_0033248		
OBO:HP_0033249	Focal substantia nigra T2 hyperintensity	biolink:OntologyClass	hp		Hyperintense lesion in the substantia nigra on magnetic resonance T2 imaging.	http://purl.obolibrary.org/obo/HP_0033249		Focal substantia nigra T2 hyperintense lesion
OBO:HP_0033250	Nailfold capillary tortuosity	biolink:OntologyClass	hp		An increased number of turns of the blood vessels of the nailfold with a charactereistic winded or twisted appearance of the blood vessels.	http://purl.obolibrary.org/obo/HP_0033250		
OBO:HP_0033251	Elevated residual volume	biolink:OntologyClass	hp		Increase in the amount of air remaining in a person's lungs after ful exhalation.	http://purl.obolibrary.org/obo/HP_0033251		Elevated RV
OBO:HP_0033252	Palmar hyperlinearity	biolink:OntologyClass	hp		Exaggerated skin markings (dermatoglyphics) on the palms of the hand.	http://purl.obolibrary.org/obo/HP_0033252		
OBO:HP_0033253	Reduced circulating interferon gamma	biolink:OntologyClass	hp		A reduction in the concentration of interferon gamma measured in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033253		
OBO:HP_0033254	Anorectal stricture	biolink:OntologyClass	hp		Narrowing of the anorectum associated with inflammation or scar tissue.	http://purl.obolibrary.org/obo/HP_0033254		Stricture of the anorectum
OBO:HP_0033255	Congenital lobar overinflation	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033255		Congenital lobar emphysema
OBO:HP_0033256	Pancolitis	biolink:OntologyClass	hp		Inflammation of the entire colon.	http://purl.obolibrary.org/obo/HP_0033256		
OBO:HP_0033257	Delayed ability to walk with support	biolink:OntologyClass	hp		A failure to achieve the ability to walk with support (cruise) at an appropriate developmental stage.	http://purl.obolibrary.org/obo/HP_0033257		Delayed ability to cruise
OBO:HP_0033258	Sudden unexpected death in epilepsy	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033258		SUDEP
OBO:HP_0033259	Non-motor seizure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033259		
OBO:HP_0033260	Livedo racemosa	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033260		
OBO:HP_0033261	Renal artery aneurysm	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033261		
OBO:HP_0033262	Transphyseal fracture of the distal humerus	biolink:OntologyClass	hp		A fracture through the distal humeral physis that separates the entire distal humeral epiphysis from the metaphysis.	http://purl.obolibrary.org/obo/HP_0033262		Transphyseal distal humerus fracture
OBO:HP_0033263	Absent platelet dense granules	biolink:OntologyClass	hp		Lack of platelet dense granules, a type of platelet organelles.	http://purl.obolibrary.org/obo/HP_0033263		Absent platelet dense bodies
OBO:HP_0033264	Enlarged platelet dense granules	biolink:OntologyClass	hp		Increased size of platelet dense granules.	http://purl.obolibrary.org/obo/HP_0033264		
OBO:HP_0033265	Podocyte myelin figures	biolink:OntologyClass	hp		Lamellated intracytoplasmic lipid inclusions within podocytes.	http://purl.obolibrary.org/obo/HP_0033265		Podocyte myelin inclusions
OBO:HP_0033266	Glomerular pseudocrescent	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033266		
OBO:HP_0033267	Abnormal glomerular capillary lumen morphology	biolink:OntologyClass	hp		Abnormal structural characteristics of the interior space of the capillary of the renal glomerulus.	http://purl.obolibrary.org/obo/HP_0033267		
OBO:HP_0033268	Deflation of the glomerular tuft	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033268		
OBO:HP_0033269	Glomerular capillary collapse	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0033269		Collapse of glomerular capillary walls
OBO:HP_0033270	Glomerular capillary congestion	biolink:OntologyClass	hp		Global distention of glomerular capillaries with intraluminal intact red blood cells.	http://purl.obolibrary.org/obo/HP_0033270		Glomerular congestion
OBO:HP_0033271	Glomerular capillary microaneurysm	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033271		
OBO:HP_0033272	Abnormal glomerular endothelial cell morphology	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033272		
OBO:HP_0033273	Loss of glomerular endothelial cell fenestration	biolink:OntologyClass	hp		Loss of round to oval discontinuities normally present in the glomerular capillary endothelial cell cytoplasm.	http://purl.obolibrary.org/obo/HP_0033273		
OBO:HP_0033274	Glomerular endotheliosis	biolink:OntologyClass	hp		Enlargement of glomerular endothelial cells by cytoplasmic swelling with resulting partial or complete occlusion of the lumen.	http://purl.obolibrary.org/obo/HP_0033274		
OBO:HP_0033275	Glomerular endothelial tubuloreticular inclusion	biolink:OntologyClass	hp		Inter-anastomosing tubular structures located within cisternae of endoplasmic reticulum, most often within endothelial cells and associated with exposure to interferon.	http://purl.obolibrary.org/obo/HP_0033275		
OBO:HP_0033276	obsolete Glomerular endocapillary hypercellularity	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0033276		
OBO:HP_0033277	Glomerular fibrinoid necrosis	biolink:OntologyClass	hp		Fibrin associated with glomerular basement membrane disruption and/or lysis of the mesangial matrix; this lesion does not require the presence of karyorrhexis.	http://purl.obolibrary.org/obo/HP_0033277		
OBO:HP_0033278	Reduced CD95-induced lymphocyte apoptosis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033278		
OBO:HP_0033279	Enterocutaneous fistula	biolink:OntologyClass	hp		An abnormal connection (fistula) between the intra-abdominal intestinal tract and the skin.	http://purl.obolibrary.org/obo/HP_0033279		
OBO:HP_0033280	Paratracheal lymphadenopathy	biolink:OntologyClass	hp		Enlargement of lymph nodes surrounding the trachea.	http://purl.obolibrary.org/obo/HP_0033280		
OBO:HP_0033281	Circulating nucleated red blood cells	biolink:OntologyClass	hp		The presence of nucleated red blood cells in the peripheral blood circulation.	http://purl.obolibrary.org/obo/HP_0033281		
OBO:HP_0033282	Abnormal glomerular basement membrane morphology	biolink:OntologyClass	hp		Any abnormal sttructure of the glomerular basement membrane.	http://purl.obolibrary.org/obo/HP_0033282		
OBO:HP_0033283	Segmentally thickened glomerular basement membrane	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033283		
OBO:HP_0033284	Diffusely thickened glomerular basement membrane	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033284		
OBO:HP_0033285	Thickened glomerular basement membranes with no electron dense deposits	biolink:OntologyClass	hp		Prominent glomerular basement membrane (GBM) reflecting an increase in thickness (subjective estimate) with no evidence of electron dense deposits by electron microscopy.	http://purl.obolibrary.org/obo/HP_0033285		
OBO:HP_0033286	Thickened glomerular basement membranes with electron dense deposits	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0033286		
OBO:HP_0033287	Glomerular basement membrane lucencies	biolink:OntologyClass	hp		Lucent zones within the glomerular basement membranes. May reflect remote/resolved deposits.	http://purl.obolibrary.org/obo/HP_0033287		
OBO:HP_0033288	Glomerular basement membrane spikes	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0033288		
OBO:HP_0033289	Glomerular basement membrane wrinkling	biolink:OntologyClass	hp		Irregular folding of the glomerular basement membrane with an intact lamina densa.	http://purl.obolibrary.org/obo/HP_0033289		
OBO:HP_0033290	Glomerular subendothelial widening	biolink:OntologyClass	hp		Expansion of the space between the glomerular endothelium and lamina densa by electron-lucent material.	http://purl.obolibrary.org/obo/HP_0033290		
OBO:HP_0033291	Glomerular karyhorrhectic debris	biolink:OntologyClass	hp		Apoptotic, pyknotic, and fragmented nuclei within the glomerulus.	http://purl.obolibrary.org/obo/HP_0033291		
OBO:HP_0033292	Glomerular fibrin thrombus	biolink:OntologyClass	hp		An aggregate of coagulated blood containing fibrin, with or without entrapped cellular elements, within a glomerular capillary lumen.	http://purl.obolibrary.org/obo/HP_0033292		
OBO:HP_0033293	Glomerular hyaline pseudothrombus	biolink:OntologyClass	hp		Intracapillary amorphous, eosinophilic material consisting of immune deposits.	http://purl.obolibrary.org/obo/HP_0033293		
OBO:HP_0033294	Glomerular lipoprotein thrombus	biolink:OntologyClass	hp		Intracapillary silver-positive material that is finely vacuolated and laminated, and stains with oil red O on frozen sections.	http://purl.obolibrary.org/obo/HP_0033294		
OBO:HP_0033295	Mesangial Immune complex deposition	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033295		
OBO:HP_0033296	Binucleated visceral epithelial cells	biolink:OntologyClass	hp		Visceral epithelial cells with 2 nuclei. Can be observed on light or ultrastructral microscopy.	http://purl.obolibrary.org/obo/HP_0033296		Binucleated podocytes
OBO:HP_0033297	Multinucleated visceral epithelial cells	biolink:OntologyClass	hp		Visceral epithelial cells with more than two nuclei. Can be observed on light or ultrastructral microscopy.	http://purl.obolibrary.org/obo/HP_0033297		Multinucleated podocytes|Podocyte multinucleation
OBO:HP_0033298	Abnormal circulating complement factor H related protein 1 concentration	biolink:OntologyClass	hp		A deviation from the normal concentration in blood of factor H-related protein 1 (FHR-1)	http://purl.obolibrary.org/obo/HP_0033298		
OBO:HP_0033299	Reduced circulating complement factor H related protein 1 concentration	biolink:OntologyClass	hp		Decreased level of circulating complement factor H related protein 1 concentration in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033299		
OBO:HP_0033300	Increased circulating complement factor H related protein 1 concentration	biolink:OntologyClass	hp		Elevated level of circulating complement factor H related protein 1 concentration in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033300		
OBO:HP_0033301	Elevated circulating 1-methylhistidine concentration	biolink:OntologyClass	hp		An abnormally increased level of 1-methylhistidine in the blood circulation. 1-methylhistidine is a derivative of L-histidine.	http://purl.obolibrary.org/obo/HP_0033301		
OBO:HP_0033302	Elevated circulating 4-hydroxyphenylacetic acid concentration	biolink:OntologyClass	hp		An abnormally increased concentration of 4-Hydroxyphenylacetic acid in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033302		
OBO:HP_0033303	Elevated urinary monocarboxylic acid level	biolink:OntologyClass	hp		Abnormally increased amount of a monocarboxylic acid in the urine. Monocarboxylic acids are molecules with one COOH functional group.	http://purl.obolibrary.org/obo/HP_0033303		
OBO:HP_0033304	Elevated urine 4-hydroxyphenylacetic acid level	biolink:OntologyClass	hp		Increased amount of 4-hydroxyphenylacetic acid in the urine.	http://purl.obolibrary.org/obo/HP_0033304		
OBO:HP_0033305	Abnormal circulating fetuin A concentration	biolink:OntologyClass	hp		Any deviation from the normal concentration of fetuin A in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033305		
OBO:HP_0033306	Decreased circulating fetuin A concentration	biolink:OntologyClass	hp		A reduction below normal of fetuin A in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033306		
OBO:HP_0033307	Increased circulating fetuin A concentration	biolink:OntologyClass	hp		An elevation above normal of fetuin A in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033307		
OBO:HP_0033308	Patellar overgrowth	biolink:OntologyClass	hp		Excessive growth of the kneecap (patella).	http://purl.obolibrary.org/obo/HP_0033308		
OBO:HP_0033309	Ileoileal intussusception	biolink:OntologyClass	hp		A type of intussusception of the small intestine in which one part of the ileum invaginates (telescopes) into another part of the ileum.	http://purl.obolibrary.org/obo/HP_0033309		
OBO:HP_0033310	Osmotic diarrhea	biolink:OntologyClass	hp		Osmotic diarrhea results from the presence of osmotically active, poorly absorbed solutes in the bowel lumen that inhibit normal water and electrolyte absorption.	http://purl.obolibrary.org/obo/HP_0033310		
OBO:HP_0033311	Abdominal aortic dissection	biolink:OntologyClass	hp		A tear in the intimal layer of the abdominal aorta causing a separation between the intima and the medial layers.	http://purl.obolibrary.org/obo/HP_0033311		
OBO:HP_0033312	Abnormal Bowman space morphology	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033312		
OBO:HP_0033313	Urinary space collagenization	biolink:OntologyClass	hp		Acellular collagenous matrix within Bowman's space, not associated with extracapillary hypercellularity or necrosis, associated with sclerosis or deflation of the tuft.	http://purl.obolibrary.org/obo/HP_0033313		Collagenization of the urinary space
OBO:HP_0033314	Visceral epithelial cell hyperplasia	biolink:OntologyClass	hp		Increased number of visceral epithelial cells (2 or more layers), often with crowding and multilayering, but without continuity with the parietal epithelium.	http://purl.obolibrary.org/obo/HP_0033314		Hyperplasia of visceral epithelial cells|Podocyte hyperplasia
OBO:HP_0033315	Visceral epithelial hyaline droplets	biolink:OntologyClass	hp		Round to ovoid, Periodic acid-Schiff (PAS)-positive, fuchsinophilic cytoplasmic inclusions within visceral epithelial cells.	http://purl.obolibrary.org/obo/HP_0033315		
OBO:HP_0033316	Glomerular crescent formation	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033316		
OBO:HP_0033317	Cellular crescent	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033317		
OBO:HP_0033318	Fibrocellular crescent	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033318		
OBO:HP_0033319	Fibrous crescent	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033319		
OBO:HP_0033320	Mesangial cell loss	biolink:OntologyClass	hp		Loss of mesangial cells segmentally or globally.	http://purl.obolibrary.org/obo/HP_0033320		
OBO:HP_0033321	Glomerular obsolescence	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033321		
OBO:HP_0033322	Glomerular capillary wall duplication without cellular interposition	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033322		
OBO:HP_0033323	Glomerular capillary wall duplication with cellular interposition	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033323		
OBO:HP_0033324	Elevated circulating homovanillic acid concentration	biolink:OntologyClass	hp		Increased concentration of homovanillic acid in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033324		
OBO:HP_0033325	Elevated circulating sebacic acid concentration	biolink:OntologyClass	hp		Increased concentration of sebacic acid in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033325		
OBO:HP_0033326	Elevated circulating hydroxyphenlyllactic acid concentration	biolink:OntologyClass	hp		An increased concentration of 4-hydroxyphenlyllactic acid in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033326		
OBO:HP_0033327	Nail psoriasis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033327		
OBO:HP_0033328	Type II pneumocyte hyperplasia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033328		
OBO:HP_0033329	Abnormal postural reflex	biolink:OntologyClass	hp		Anomaly of the physiological response to maintain the body's posture when movement and position is altered.	http://purl.obolibrary.org/obo/HP_0033329		Abnormal postural reaction
OBO:HP_0033330	Impaired neck-righting reflex	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033330		
OBO:HP_0033331	Acute phase response	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033331		
OBO:HP_0033332	Elevated circulating amyloid A	biolink:OntologyClass	hp		An increased concentration of serum amyloid A in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033332		
OBO:HP_0033333	Jaw contracture	biolink:OntologyClass	hp		Limitation of motion of the jaw due to structural changes in a muscle such as the massseter responsible for jaw movement.	http://purl.obolibrary.org/obo/HP_0033333		
OBO:HP_0033334	Abnormal embryonic development	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033334		
OBO:HP_0033335	Abnormal preimplantation embryonic development	biolink:OntologyClass	hp		An anomaly in the development of the embryo in a stage prior to implantation.	http://purl.obolibrary.org/obo/HP_0033335		
OBO:HP_0033336	Zygotic cleavage failure	biolink:OntologyClass	hp		Failure of a fertilized oocyte to undergo the first round of cell division.	http://purl.obolibrary.org/obo/HP_0033336		Failure of zygotic cell division
OBO:HP_0033337	Abnormal gametogenesis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033337		
OBO:HP_0033338	Abnormal female meiosis	biolink:OntologyClass	hp		Anomalous oocyte meiosis	http://purl.obolibrary.org/obo/HP_0033338		
OBO:HP_0033339	Increased circulating inosine concentration	biolink:OntologyClass	hp		An increased concentration of inosine in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033339		
OBO:HP_0033340	Increased circulating guanosine concentration	biolink:OntologyClass	hp		Increased concentration of guanosine in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033340		
OBO:HP_0033341	Elevated circulating sitosterol concentration	biolink:OntologyClass	hp		An increased concentration of beta-sitosterol in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033341		Elevated circulating beta-sitosterol concentration
OBO:HP_0033342	Anti-aquaporin 4 antibody positivity	biolink:OntologyClass	hp		The presence of autoantibodies (immunoglobulins) in the serum that react against aquaporin-4.	http://purl.obolibrary.org/obo/HP_0033342		Anti-AQP4 antibody positivity
OBO:HP_0033343	Mucoid diarrhea	biolink:OntologyClass	hp		Passage of an increased number of stools containing mucus, a thick fluid substance secreted by mucous membranes.	http://purl.obolibrary.org/obo/HP_0033343		Mucous diarrhea
OBO:HP_0033344	Pleural cobblestoning	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033344		
OBO:HP_0033345	Neuralgia	biolink:OntologyClass	hp		Pain (An unpleasant sensory and emotional experience) along the course of a nerve.	http://purl.obolibrary.org/obo/HP_0033345		
OBO:HP_0033346	Psychic epileptic aura	biolink:OntologyClass	hp		Aura with affective, mnemonic or composite perceptual phenomena including illusory or composite hallucinatory events.	http://purl.obolibrary.org/obo/HP_0033346		Psychic aura
OBO:HP_0033347	Cognitive epileptic aura	biolink:OntologyClass	hp		A purely subjective manifestation of an epileptic seizure pertaining to altered cognition.	http://purl.obolibrary.org/obo/HP_0033347		
OBO:HP_0033348	Epileptic aura	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033348		
OBO:HP_0033349	Seizure cluster	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033349		Acute repetitive seizures|Crescendo seizures|Cyclical seizures|Recurrent seizures|Seizure flurries|Serial seizures
OBO:HP_0033350	Elevated forced expiratory volume in one second	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033350		Elevated FEV1
OBO:HP_0033351	Candida esophagitis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033351		Esophageal candidiasis
OBO:HP_0033352	Pulmonary hypertensive crisis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033352		Pulmonary arterial hypertension crisis
OBO:HP_0033353	Abnormal blood vessel morphology	biolink:OntologyClass	hp		Any structural anomaly of a blood vessel (artery, arteriole, capillary, venule, or vein).	http://purl.obolibrary.org/obo/HP_0033353		
OBO:HP_0033354	Abnormal urine metabolite level	biolink:OntologyClass	hp		Any deviation from the normal concentration of a metabolite in urine.	http://purl.obolibrary.org/obo/HP_0033354		
OBO:HP_0033355	Increased urine deoxypyridinoline level	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033355		Elevated urinary DPD
OBO:HP_0033356	Elevated circulating o-phosphoserine concentration	biolink:OntologyClass	hp		An abnormally increased level of o-phosphoserine in the blood circulation. o-phosphoserine is a derivative of serine.	http://purl.obolibrary.org/obo/HP_0033356		
OBO:HP_0033357	Limited head rotation	biolink:OntologyClass	hp		Reduced range of motion turning the head side to side.	http://purl.obolibrary.org/obo/HP_0033357		
OBO:HP_0033358	Abnormal urine osmolality	biolink:OntologyClass	hp		A deviation from the normal range of concentration of particles in urine.	http://purl.obolibrary.org/obo/HP_0033358		
OBO:HP_0033359	Hyperosthenuria	biolink:OntologyClass	hp		An abnormally high urinary specific gravity, i.e., increased concentration of solutes in the urine.	http://purl.obolibrary.org/obo/HP_0033359		
OBO:HP_0033360	Impaired ability to shift attention	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033360		Impaired task shifting
OBO:HP_0033361	Nasal ulcer	biolink:OntologyClass	hp		An open sore of the nasal mucosa.	http://purl.obolibrary.org/obo/HP_0033361		
OBO:HP_0033362	Recurrent coughing spasms	biolink:OntologyClass	hp		Repeated occurrence of episodes of coughing, with each episode consisting of at least five minutes of continuous coughing.	http://purl.obolibrary.org/obo/HP_0033362		
OBO:HP_0033363	Hyaline membranes	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033363		
OBO:HP_0033364	Lipoid pneumonia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033364		
OBO:HP_0033365	Endogenous lipoid pneumonia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033365		
OBO:HP_0033366	Exogenous lipoid pneumonia	biolink:OntologyClass	hp		A type of lipoid pneumonia in which the source of the lipids is external to the body.	http://purl.obolibrary.org/obo/HP_0033366		
OBO:HP_0033367	Orthodeoxia	biolink:OntologyClass	hp		Low level of blood oxygen induced by changing from a recumbent to an upright position.	http://purl.obolibrary.org/obo/HP_0033367		
OBO:HP_0033368	Platypnea	biolink:OntologyClass	hp		A type of dyspnea that occurs when the affected person changes from a recumbent to an upright position.	http://purl.obolibrary.org/obo/HP_0033368		
OBO:HP_0033369	Cavitating leukodystrophy	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033369		
OBO:HP_0033370	Bronchial telangiectasia	biolink:OntologyClass	hp		Telangiectasias (small dilated blood vessels located near the surface of the skin or mucous membranes) located in the trachoebronchial system.	http://purl.obolibrary.org/obo/HP_0033370		Endobronchial telangiectasia
OBO:HP_0033371	Bronchocentric granulomatosis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033371		
OBO:HP_0033372	Abnormal KCO	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033372		
OBO:HP_0033373	Increased KCO	biolink:OntologyClass	hp		Increased diffusion capacity of the lung for carbon monoxide (CO) rate constant (efficiency index).	http://purl.obolibrary.org/obo/HP_0033373		
OBO:HP_0033374	Decreased KCO	biolink:OntologyClass	hp		Decreased diffusion capacity of the lung for carbon monoxide (CO) rate constant (efficiency index).	http://purl.obolibrary.org/obo/HP_0033374		
OBO:HP_0033375	Anthracosis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033375		
OBO:HP_0033376	Alveolar septal thickening	biolink:OntologyClass	hp		Increased width of the alveolar septum, which is the structure that separates neighboring alveoli. This finding can be appreciated on histology.	http://purl.obolibrary.org/obo/HP_0033376		
OBO:HP_0033377	Increased airway neuroendocrine cells	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0033377		
OBO:HP_0033378	Increased airway neuroepithelial bodies	biolink:OntologyClass	hp		Presence of increased numbers of bombesin-immuno-positive neuroendocrine cell cluster (neuroepithelial bodies) in the alveolar ducts.	http://purl.obolibrary.org/obo/HP_0033378		
OBO:HP_0033379	Bilateral superior vena cava	biolink:OntologyClass	hp		The presence of a left and a right superior vena cava.	http://purl.obolibrary.org/obo/HP_0033379		Bilateral SVC
OBO:HP_0033380	Nasal chondritis	biolink:OntologyClass	hp		Inflammation of the cartilage of the nose.	http://purl.obolibrary.org/obo/HP_0033380		Nose chondritis
OBO:HP_0033381	Elevated circulating stearoylcarnitine concentration	biolink:OntologyClass	hp		Abnormally increased concentration of O-stearoylcarnitine in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033381		
OBO:HP_0033382	Elevated circulating palmitoylcarnitine concentration	biolink:OntologyClass	hp		Abnormally increased concentration of palmitoylcarnitine in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033382		
OBO:HP_0033383	Decreased compound muscle action potential amplitude	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033383		Decreased CMAP amplitude
OBO:HP_0033384	Elevated urinary collagen degradation products	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033384		
OBO:HP_0033385	Elevated urine pyridinoline level	biolink:OntologyClass	hp		An increased amount of pyridinoline in the urine.	http://purl.obolibrary.org/obo/HP_0033385		Elevated urine hydroxylysyl-pyridinoline level
OBO:HP_0033386	Abnormal circulating collagen degradation product concentration	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033386		
OBO:HP_0033387	Elevated circulating pyridinoline concentration	biolink:OntologyClass	hp		An increased concentration of hydroxylysyl-pyridinoline (pyridinoline) in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033387		
OBO:HP_0033388	Abnormal bronchial artery morphology	biolink:OntologyClass	hp		Any structural abnormality of a bronchial artery.	http://purl.obolibrary.org/obo/HP_0033388		
OBO:HP_0033389	Bronchopulmonary anastomosis	biolink:OntologyClass	hp		Abnormal arterial anastomosis (connection) between bronchial and pulmonary arteries.	http://purl.obolibrary.org/obo/HP_0033389		
OBO:HP_0033390	Bronchial artery dilatation	biolink:OntologyClass	hp		Increased caliber of a bronchial artery, which can be defined as a bronchial artery diameter that exceeds 2 mm.	http://purl.obolibrary.org/obo/HP_0033390		Bronchial artery enlargement|Dilatation of a bronchial artery
OBO:HP_0033391	Bronchial artery hypertrophy	biolink:OntologyClass	hp		Increase in the volume of bronchial artery wall due to the enlargement of its component cells.	http://purl.obolibrary.org/obo/HP_0033391		
OBO:HP_0033392	Perivascular pre-capillary pulmonary artery inflammation	biolink:OntologyClass	hp		Inflammatory cell infiltration surrounding precapillary pulmonary arteries (arterioles; 20-70 micrometer).	http://purl.obolibrary.org/obo/HP_0033392		Perivascular inflammation of arterioles in the pulmonary circulation|Perivascular inflammation of pre-capillary pulmonary arteries
OBO:HP_0033393	Irregularly shaped sperm tail	biolink:OntologyClass	hp		Irregular or changing caliber (diameter) along the tail of the sperm.	http://purl.obolibrary.org/obo/HP_0033393		Sperm flagella with irregular caliber
OBO:HP_0033394	Anti-carbonic anhydrase II antibody positivity	biolink:OntologyClass	hp		The presence of autoantibodies (immunoglobulins) in the serum that react against carbonic anhydrase II.	http://purl.obolibrary.org/obo/HP_0033394		
OBO:HP_0033395	Antilactoferrin antibody positivity	biolink:OntologyClass	hp		The presence of autoantibodies (immunoglobulins) in the serum that react against lactoferrin.	http://purl.obolibrary.org/obo/HP_0033395		
OBO:HP_0033396	Glomerular extracapillary fibrin	biolink:OntologyClass	hp		Presence of ropey, eosinophilic material (brght red on Trichrome staining) consistent with extracapillary fibrin outside of capillary lumina.	http://purl.obolibrary.org/obo/HP_0033396		
OBO:HP_0033397	Bowman-space proteinaceous debris	biolink:OntologyClass	hp		The presence of eosinophilic Periodic Acid Schiff (PAS)-positive cell free, protein-derived material occupying Bowman's space.	http://purl.obolibrary.org/obo/HP_0033397		
OBO:HP_0033398	Pleural plaque	biolink:OntologyClass	hp		Deposits of hyalinized collagen fibres in the parietal pleura (preferentially pleura adjacent to ribs, particularly the sixth through ninth ribs).	http://purl.obolibrary.org/obo/HP_0033398		
OBO:HP_0033399	Persistent fever	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033399		
OBO:HP_0033400	Acute abdomen	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033400		Acute abdominal pain
OBO:HP_0033401	Tissue ischemia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033401		
OBO:HP_0033402	Digital ischemia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033402		
OBO:HP_0033403	Testicular ischemia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033403		
OBO:HP_0033404	Intestinal ischemia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033404		
OBO:HP_0033405	Abnormal circulating organic amino compound concentration	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033405		
OBO:HP_0033406	Elevated circulating o-phosphoethanolamine concentration	biolink:OntologyClass	hp		An increased concentration of o-phosphoethanolamine in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033406		
OBO:HP_0033407	Elevated urine acetoacetic acid level	biolink:OntologyClass	hp		Elevated amount of acetoacetic acid in the urine.	http://purl.obolibrary.org/obo/HP_0033407		
OBO:HP_0033408	Elevated circulating acetoacetic acid concentration	biolink:OntologyClass	hp		An increased level of acetoacetic acid in the blood circulation. Acetoacetic acid is one of the predominant ketone bodies.	http://purl.obolibrary.org/obo/HP_0033408		
OBO:HP_0033409	Elevated urinary 2-hydroxybutyric acid	biolink:OntologyClass	hp		An increased amount of 2-hydroxybutyric acid in the urine.	http://purl.obolibrary.org/obo/HP_0033409		
OBO:HP_0033410	Elevated circulating cartilage oligomeric matrix protein concentration	biolink:OntologyClass	hp		An increased blood concentration of cartilage oligomeric matrix protein (COMP).	http://purl.obolibrary.org/obo/HP_0033410		
OBO:HP_0033411	Lower extremity akinesia	biolink:OntologyClass	hp		Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily in the lower extremities.	http://purl.obolibrary.org/obo/HP_0033411		
OBO:HP_0033412	Upper extremity akinesia	biolink:OntologyClass	hp		Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily in the upper extremities.	http://purl.obolibrary.org/obo/HP_0033412		Akinesia of the upper extremities
OBO:HP_0033413	Upper extremity hypokinesia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033413		Hypokinesia of the upper extremities
OBO:HP_0033414	Lower extremity hypokinesia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033414		Hypokinesia of the lower extremities
OBO:HP_0033415	Cardiac tamponade	biolink:OntologyClass	hp		The accumulation of pericardial fluid with subsequent compression of all cardiac chambers which prevents cardiac filling.	http://purl.obolibrary.org/obo/HP_0033415		
OBO:HP_0033416	Hip adductor weakness	biolink:OntologyClass	hp		Reduced ability to bring the leg toward the midline of the body.	http://purl.obolibrary.org/obo/HP_0033416		
OBO:HP_0033417	Elevated circulating hydroxybutyric acid concentration	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033417		
OBO:HP_0033418	Elevated circulating 2-hydroxybutyric acid concentration	biolink:OntologyClass	hp		Elevation of the 2-hydroxybutyric acid concentration in the blood above the normal range.	http://purl.obolibrary.org/obo/HP_0033418		
OBO:HP_0033419	Elevated circulating 3-hydroxybutyric acid concentration	biolink:OntologyClass	hp		Elevation of the 3-hydroxybutyric acid concentration in the blood above the normal range.	http://purl.obolibrary.org/obo/HP_0033419		
OBO:HP_0033420	Pulmonary arterial plexiform lesion	biolink:OntologyClass	hp		Focal proliferation of pulmonary artery endothelial cells, leading to the formation of complex capillary-like channels.	http://purl.obolibrary.org/obo/HP_0033420		
OBO:HP_0033421	Pulmonary artery intimal thickening	biolink:OntologyClass	hp		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%.	http://purl.obolibrary.org/obo/HP_0033421		
OBO:HP_0033422	Pulmonary artery adventitial fibrosis	biolink:OntologyClass	hp		Increased amount of collagen, proteoglycans, and other extracellular matrix proteins resulting in scarring and thickening in the adventia of the pulmonary arterial tree.	http://purl.obolibrary.org/obo/HP_0033422		
OBO:HP_0033423	Pulmonary arterial hypertension with positive acute response to NO challenge	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033423		
OBO:HP_0033424	Pulmonary arterial hypertension with lack of acute response to NO challenge	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0033424		
OBO:HP_0033425	Periungual erythema	biolink:OntologyClass	hp		Erythema (redness of the skin caused by hyperemia in superficial capillaries) in the region surrounding a fingernail or toe nail.	http://purl.obolibrary.org/obo/HP_0033425		
OBO:HP_0033426	Pulmonary air embolism	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033426		Venous air embolism
OBO:HP_0033427	Pulmonary capillary angioectasia	biolink:OntologyClass	hp		Focal accumulation of dilated pulmonary capillaries.	http://purl.obolibrary.org/obo/HP_0033427		
OBO:HP_0033428	Systemic autoinflammation	biolink:OntologyClass	hp		Dysregulation of the innate immune system characterized by systemic pathobiology, i.e., with symptoms that can affect the entire body.	http://purl.obolibrary.org/obo/HP_0033428		
OBO:HP_0033429	Neuroinflammation	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033429		
OBO:HP_0033430	Non-infectious meningitis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033430		
OBO:HP_0033431	Cytomegalovirus colitis	biolink:OntologyClass	hp		A form of cytomegalovirus infection characterized by infection and inflammation of the colon.	http://purl.obolibrary.org/obo/HP_0033431		CMV colitis
OBO:HP_0033432	Opportunistic viral infection	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0033432		
OBO:HP_0033433	Ileocecal ulcer	biolink:OntologyClass	hp		An erosion of the mucous membrane in the region connecting the ileum and cecum.	http://purl.obolibrary.org/obo/HP_0033433		Ileo-cecal ulcer
OBO:HP_0033434	Nasal septum perforation	biolink:OntologyClass	hp		A full-thickness defect of the nasal septum.	http://purl.obolibrary.org/obo/HP_0033434		Nasal-septum perforation|Perforation of the nasal septum
OBO:HP_0033435	Abnormal circulating keto acid concentration	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033435		
OBO:HP_0033436	Elevated circulating 3-methyl-2-oxovaleric acid concentration	biolink:OntologyClass	hp		An abnormally increased concentration of 3-methyl-2-oxovaleric acid in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033436		
OBO:HP_0033437	Elevated circulating 4-methyl-2-oxopentanoic acid concentration	biolink:OntologyClass	hp		Abnormal increase of the concentration of 4-methyl-2-oxopentanoic acid in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033437		Increased circulating alpha-ketoisocaproic acid concentration
OBO:HP_0033438	Elevated circulating myoglobin concentration	biolink:OntologyClass	hp		An increased blood concentration of myoglobin.	http://purl.obolibrary.org/obo/HP_0033438		
OBO:HP_0033439	Elevated circulating decenoylcarnitine concentration	biolink:OntologyClass	hp		Increased concentration of decenoylcarnitine in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033439		Elevated circulating O-decenoylcarnitine concentration|Elevated plasma decenoylcarnitine, C10:1
OBO:HP_0033440	Elevated circulating octenoylcarnitine concentration	biolink:OntologyClass	hp		Increased concentration of octenoylcarnitine in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033440		Elevated circulating O-octenoylcarnitine concentration|Elevated plasma octenoylcarnitine, C8:1
OBO:HP_0033441	Elevated circulating hexanoylcarnitine concentration	biolink:OntologyClass	hp		Increased concentration of hexanoylcarnitine in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033441		Elevated circulating O-hexanoylcarnitine concentration|Elevated plasma hexanoylcarnitine, C6:0
OBO:HP_0033442	Elevated circulating glutarylcarnitine concentration	biolink:OntologyClass	hp		Increased concentration of glutarylcarnitine in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033442		Elevated circulating O-glutarylcarnitine concentration|Elevated plasma glutarylcarnitine, C5-DC
OBO:HP_0033443	Elevated circulating propionylcarnitine concentration	biolink:OntologyClass	hp		Increased concentration of propionylcarnitine in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033443		
OBO:HP_0033444	Elevated circulating dodecanoylcarnitine concentration	biolink:OntologyClass	hp		Increased concentration of dodecanoylcarnitine in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033444		Elevated circulating O-dodecanoylcarnitine concentration|Elevated plasma dodecanoylcarnitine, C12:0
OBO:HP_0033445	Reduced circulating acylcarnitine concentration	biolink:OntologyClass	hp		An abnormally reduced concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine.	http://purl.obolibrary.org/obo/HP_0033445		
OBO:HP_0033446	Elevated circulating butyrylcarnitine concentration	biolink:OntologyClass	hp		Increased concentration of O-butyrylcarnitine in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033446		Elevated circulating O-butyrylcarnitine concentration
OBO:HP_0033447	Elevated circulating isovalerylcarnitine concentration	biolink:OntologyClass	hp		Increased concentration of O-isovalerylcarnitine in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033447		Elevated circulating O-isovalerylcarnitine concentration
OBO:HP_0033448	Increased mid-arm muscle circumference	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033448		
OBO:HP_0033449	Decreased mid-arm muscle circumference	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033449		
OBO:HP_0033450	Abnormal circulating prealbumin concentration	biolink:OntologyClass	hp		Any deviation from normal concentration of albumin in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033450		
OBO:HP_0033451	Increased circulating prealbumin concentration	biolink:OntologyClass	hp		An elevation above the normal concentration of prealbumin in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033451		
OBO:HP_0033452	Decreased circulating prealbumin concentration	biolink:OntologyClass	hp		A reduction from the normal concentration of prealbumin in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033452		
OBO:HP_0033453	Limited neck extension	biolink:OntologyClass	hp		Reduced abilty to move the head back towards the ceiling so that one is looking upwards.	http://purl.obolibrary.org/obo/HP_0033453		
OBO:HP_0033454	Tube feeding	biolink:OntologyClass	hp		Feeding problem necessitating food and nutrient delivery via a tube.	http://purl.obolibrary.org/obo/HP_0033454		
OBO:HP_0033455	Elevated urinary dicarboxylic acid level	biolink:OntologyClass	hp		Increased amount of a dicarboxylic acid in the urine.	http://purl.obolibrary.org/obo/HP_0033455		
OBO:HP_0033456	Elevated urine keto acid level	biolink:OntologyClass	hp		Increased amount of a keta acid in the urine.	http://purl.obolibrary.org/obo/HP_0033456		
OBO:HP_0033457	Elevated urine 3-methyl-2-oxovaleric acid level	biolink:OntologyClass	hp		Increased amount of 3-methyl-2-oxovaleric acid in the urine.	http://purl.obolibrary.org/obo/HP_0033457		
OBO:HP_0033458	Elevated urine 4-methyl-2-oxopentanoic acid level	biolink:OntologyClass	hp		Increased amount of 4-methyl-2-oxopentanoic acid in the urine.	http://purl.obolibrary.org/obo/HP_0033458		Increased urine alpha-ketoisocaproic acid level
OBO:HP_0033459	Decreased circulating apolipoprotein concentration	biolink:OntologyClass	hp		Reduced concentration in the blood circulation of a lipid-transport protein (apoliprotein).	http://purl.obolibrary.org/obo/HP_0033459		Decreased apolipoprotein level
OBO:HP_0033460	Increased circulating apolipoprotein circulation	biolink:OntologyClass	hp		Elevated concentration in the blood circulation of a lipid-transport protein (apoliprotein).	http://purl.obolibrary.org/obo/HP_0033460		
OBO:HP_0033461	Elevated circulating 3-hydroxylinoleylcarnitine concentration	biolink:OntologyClass	hp		Increased concentration of 3-hydroxylinoleylcarnitine in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033461		Elevated plasma 3-OH-Linoleylcarnitine, C18:1-OH
OBO:HP_0033462	Elevated circulating oleylcarnitine concentration	biolink:OntologyClass	hp		Increased concentration of oleylcarnitine in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033462		Elevated plasma oleylcarnitine, C18:1
OBO:HP_0033463	obsolete Elevated circulating palmitoleylcarnitine concentration	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0033463		
OBO:HP_0033464	Elevated circulating 3-hydroxypalmitoleylcarnitine concentration	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0033464		Elevated circulating 3-OH-palmitoleylcarnitine concentration|Elevated plasma 3-OH-Palmitoleylcarnitine, C16:1-OH|Increased concentration of 3-hydroxypalmitoleylcarnitine in the blood circulation.
OBO:HP_0033465	Elevated circulating tetradecanolycarnitine concentration	biolink:OntologyClass	hp		Elevated circulating tetradecanoyl concentration.	http://purl.obolibrary.org/obo/HP_0033465		
OBO:HP_0033466	Weak grip	biolink:OntologyClass	hp		Reduced grip strength. Gripping is the motion by which the hand tightly grasps an object or other hand.	http://purl.obolibrary.org/obo/HP_0033466		
OBO:HP_0033467	Low 10-minute APGAR score	biolink:OntologyClass	hp		A normal APGAR score can be coded as 'not Low 10-minute APGAR score'.	http://purl.obolibrary.org/obo/HP_0033467		
OBO:HP_0033468	10-minute APGAR score of 0	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0033468		
OBO:HP_0033469	10-minute APGAR score of 1	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0033469		
OBO:HP_0033470	10-minute APGAR score of 2	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0033470		
OBO:HP_0033471	10-minute APGAR score of 3	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0033471		
OBO:HP_0033472	10-minute APGAR score of 4	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0033472		
OBO:HP_0033473	10-minute APGAR score of 5	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0033473		
OBO:HP_0033474	10-minute APGAR score of 6	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0033474		
OBO:HP_0033475	Limited shoulder abduction	biolink:OntologyClass	hp		Decreased ability to move the arm away from the midline of the body.	http://purl.obolibrary.org/obo/HP_0033475		
OBO:HP_0033476	Extractable nuclear antigen positivity	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033476		
OBO:HP_0033477	Abnormal circulating lipoprotein lipase concentration	biolink:OntologyClass	hp		A deviation from the normal concentration of lipoprotein lipase in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033477		
OBO:HP_0033478	Increased circulating lipoprotein lipase concentration	biolink:OntologyClass	hp		Increased concentration of lipoprotein lipase in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033478		Elevated lipoprotein lipase level
OBO:HP_0033479	Abnormal circulating bilirubin concentration	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0033479		
OBO:HP_0033480	Hypobilirubinemia	biolink:OntologyClass	hp		Decreased circulation of bilirubin in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033480		
OBO:HP_0033481	Limited lateral neck flexion	biolink:OntologyClass	hp		Reduced range of motion resulting in decreased ability to move the ear toward the top of the shoulder.	http://purl.obolibrary.org/obo/HP_0033481		
OBO:HP_0033482	Limited shoulder flexion	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033482		
OBO:HP_0033483	Podocyte infolding	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033483		
OBO:HP_0033484	Elevated circulating linoleylcarnitine concentration	biolink:OntologyClass	hp		Increased concentration of linoleylcarnitine in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033484		Elevated plasma linoleylcarnitine, C18:2
OBO:HP_0033485	Glomerular basement membrane disruption	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033485		Disruption of the glomerular basement membrane|Glomerular basement membrane rupture
OBO:HP_0033486	Abnormal glomerular basement membrane texture	biolink:OntologyClass	hp		Anomalous appearance or structure of the surface of the glomerular basement membrane.	http://purl.obolibrary.org/obo/HP_0033486		
OBO:HP_0033487	Glomerular basement membranes powdery deposit	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033487		Glomerular basement membranes with powdery deposit
OBO:HP_0033488	Glomerular endocapillary leukocyte hypercellularity	biolink:OntologyClass	hp		Increased number of leukocytes internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries.	http://purl.obolibrary.org/obo/HP_0033488		Glomerular endocapillary hypercellularity consisting of leukocytes
OBO:HP_0033489	Glomerular endocapillary neutrophil hypercellularity	biolink:OntologyClass	hp		Increased number of neutrophils internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries.	http://purl.obolibrary.org/obo/HP_0033489		
OBO:HP_0033490	Glomerular endocapillary foam-cell hypercellularity	biolink:OntologyClass	hp		Presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in the glomerulus often occupying the endocapillary space.	http://purl.obolibrary.org/obo/HP_0033490		
OBO:HP_0033491	Global mesangial sclerosis	biolink:OntologyClass	hp		A generalized global (over 80%) increase of mesangial matrix that is present throughout the mesangial stalk (with or without associated mesangial hypercellularity).	http://purl.obolibrary.org/obo/HP_0033491		
OBO:HP_0033492	Podocyte cytoskeletal condensation	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033492		
OBO:HP_0033493	Mesangial matrix expansion	biolink:OntologyClass	hp		Increased mesangial extracellular material with interspace width of over 2 mesangial cell nuclei, in one or more peripheral mesangial areas.	http://purl.obolibrary.org/obo/HP_0033493		Increased glomerular mesangial matrix
OBO:HP_0033494	Glomerular basement membrane amyloid spicule	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033494		
OBO:HP_0033495	Segmental glomerulosclerosis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033495		
OBO:HP_0033496	Perihilar segmental glomerulosclerosis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033496		Segmental glomerulosclerosis, perihilar pattern
OBO:HP_0033497	Tip variant segmental glomerulosclerosis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033497		Segmental glomerulosclerosis, tip variant
OBO:HP_0033498	Segmental glomerulosclerosis away from the vascular and tubular poles	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033498		
OBO:HP_0033499	Glomerular basement membrane electron dense deposits	biolink:OntologyClass	hp		Electron-dense deposits in the lamina densa with a ribbon or a sausage structure.	http://purl.obolibrary.org/obo/HP_0033499		
OBO:HP_0033500	Subendothelial glomerular basement membrane electron dense deposits	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033500		
OBO:HP_0033501	Subepithelial glomerular basement membrane electron dense deposits	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033501		
OBO:HP_0033502	Abnormal esterified to free carnitine ratio	biolink:OntologyClass	hp		Any deviation from the normal ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine.	http://purl.obolibrary.org/obo/HP_0033502		
OBO:HP_0033503	Elevated CSF fumarate	biolink:OntologyClass	hp		An increased concentration of fumarate, an intermediate in the citric acid cycle, in the cebrebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0033503		
OBO:HP_0033504	Elevated circulating fumarate concentration	biolink:OntologyClass	hp		An increased concentration of fumarate, an intermediate in the citric acid cycle, in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033504		
OBO:HP_0033505	Livedo reticularis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033505		
OBO:HP_0033506	Increased esterified to free carnitine ratio	biolink:OntologyClass	hp		An elevated ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine.	http://purl.obolibrary.org/obo/HP_0033506		
OBO:HP_0033507	Decreased esterified to free carnitine ratio	biolink:OntologyClass	hp		A reduced ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine.	http://purl.obolibrary.org/obo/HP_0033507		
OBO:HP_0033508	EBV meningitis	biolink:OntologyClass	hp		Inflammation of the meninges related to infection by Epstein-Barr virus.	http://purl.obolibrary.org/obo/HP_0033508		Epstein-Barr virus meningitis
OBO:HP_0033509	EBV encephalitis	biolink:OntologyClass	hp		Inflamation of the brain related to infection by Epstein-Barr virus.	http://purl.obolibrary.org/obo/HP_0033509		Epstein-Barr virus encephalitis
OBO:HP_0033510	Cutaneous horn	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033510		Cornu cutaneum
OBO:HP_0033511	Drug addiction	biolink:OntologyClass	hp		Chronic compulsive drug seeking and continued use despite harmful consequences.	http://purl.obolibrary.org/obo/HP_0033511		
OBO:HP_0033512	Stimulant addiction	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033512		Stimulant dependence
OBO:HP_0033513	Cocaine addiction	biolink:OntologyClass	hp		Addiction to cocaine.	http://purl.obolibrary.org/obo/HP_0033513		Cocaine dependence
OBO:HP_0033514	Amphetamine addiction	biolink:OntologyClass	hp		Addiction to amphetamine or dextroamphetamine.	http://purl.obolibrary.org/obo/HP_0033514		Amphetamine dependence|Dextroamphetamine addiction|Dextroamphetamine dependence
OBO:HP_0033515	Opioid addiction	biolink:OntologyClass	hp		Addiction to opioids.	http://purl.obolibrary.org/obo/HP_0033515		Opioid dependence
OBO:HP_0033516	Benzodiazepine addiction	biolink:OntologyClass	hp		Addiction to a benzodiazepine.	http://purl.obolibrary.org/obo/HP_0033516		Benzodiazepine dependence
OBO:HP_0033517	Heroid addiction	biolink:OntologyClass	hp		Addiction to heroin.	http://purl.obolibrary.org/obo/HP_0033517		Heroin dependence
OBO:HP_0033518	Methylphenidate addiction	biolink:OntologyClass	hp		Addiction to methylphenidate.	http://purl.obolibrary.org/obo/HP_0033518		Methylphenidate dependence
OBO:HP_0033519	Methamphetamine addiction	biolink:OntologyClass	hp		Addiction to methamphetamine.	http://purl.obolibrary.org/obo/HP_0033519		Methamphetamine dependence
OBO:HP_0033520	Paradoxical embolism	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033520		
OBO:HP_0033521	Nasal dryness	biolink:OntologyClass	hp		A lack of humidification of the nasal mucosa.	http://purl.obolibrary.org/obo/HP_0033521		
OBO:HP_0033522	Cerebral cavernous malformation	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033522		
OBO:HP_0033523	Abnormal sperm principal piece morphology	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033523		
OBO:HP_0033524	Abnormal sperm axoneme morphology	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033524		
OBO:HP_0033525	Absent sperm axoneme central pair complex	biolink:OntologyClass	hp		Absense of the central pair of microtubules in the sperm axoneme, thereby forming a 9+0 pattern instead of the normal 9+2 pattern.	http://purl.obolibrary.org/obo/HP_0033525		Absent central pair complex (9+0 pattern)
OBO:HP_0033526	Limited ankle dorsiflexion	biolink:OntologyClass	hp		Reduced ability to move the foot up toward the shin.	http://purl.obolibrary.org/obo/HP_0033526		
OBO:HP_0033527	Decreased gonadotropin-stimulated testosterone-to-androstenedione ratio	biolink:OntologyClass	hp		A reduced amount of testosterone relative in androstenedione in the blood circulation following administration of hCG (Human Chorionic Gonadotropin).	http://purl.obolibrary.org/obo/HP_0033527		Decreased plasma testosterone-to-androstenedione ratio
OBO:HP_0033528	Abnormal cardiac output	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033528		
OBO:HP_0033529	Abnormal cardiac index	biolink:OntologyClass	hp		Any deviation from the normal value of the cardiac index, defined as cardiac output divided by body surface area.	http://purl.obolibrary.org/obo/HP_0033529		
OBO:HP_0033530	Increased cardiac index	biolink:OntologyClass	hp		An elevated cardiac index, defined as cardiac output divided by body surface area.	http://purl.obolibrary.org/obo/HP_0033530		
OBO:HP_0033531	Decreased cardiac index	biolink:OntologyClass	hp		A reduced cardiac index, defined as cardiac output divided by body surface area.	http://purl.obolibrary.org/obo/HP_0033531		
OBO:HP_0033532	Decreased cardiac output	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033532		
OBO:HP_0033533	Increased cardiac output	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033533		
OBO:HP_0033534	Increased circulating brain natriuretic peptide concentration	biolink:OntologyClass	hp		An increased concentration of brain natriuretic peptide in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033534		Elevated circulating BNP concentration|Increased B-type natriuretic peptide|Increased ventricular natriuretic peptide
OBO:HP_0033535	Reduced platelet dense granules	biolink:OntologyClass	hp		Decreased number of platelet dense granules, a type of platelet organelle.	http://purl.obolibrary.org/obo/HP_0033535		
OBO:HP_0033536	Reduced platelet alpha granules	biolink:OntologyClass	hp		A reduced number of platelet alpha granules.	http://purl.obolibrary.org/obo/HP_0033536		
OBO:HP_0033537	Mosaic pulmonary attenuation pattern	biolink:OntologyClass	hp		Mosaic attenuation refers to heterogeneous areas of differing pulmonary attenuation on CT imaging.	http://purl.obolibrary.org/obo/HP_0033537		
OBO:HP_0033538	Aortic annulus calcification	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033538		Aortic annular calcification
OBO:HP_0033539	Bilateral apical pulmonary fibrosis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033539		
OBO:HP_0033540	Reversible airflow obstruction	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033540		Reversible pulmonary obstruction
OBO:HP_0033541	Irreversible airflow obstruction	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033541		Irreversible pulmonary obstruction
OBO:HP_0033542	Bronchial wall thickening	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033542		Peribronchial cuffing|Peribronchial thickening
OBO:HP_0033543	Nicotine addiction	biolink:OntologyClass	hp		Nicotine addition can be defined as chronic compulsive nicotine seeking and continued use despite harmful consequences.	http://purl.obolibrary.org/obo/HP_0033543		Nicotine dependence
OBO:HP_0033544	Mesangial fibril deposition	biolink:OntologyClass	hp		Extracellular mesangial accumulation of slender proteinaceous fibers.	http://purl.obolibrary.org/obo/HP_0033544		
OBO:HP_0033545	Mesangial fibrillary deposits	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033545		
OBO:HP_0033546	Mesangial microfibril deposition	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033546		
OBO:HP_0033547	Mesangial immunotactoid deposits	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033547		
OBO:HP_0033548	Mesangial amyloid deposition	biolink:OntologyClass	hp		Extracellular mesangial aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass.	http://purl.obolibrary.org/obo/HP_0033548		
OBO:HP_0033549	Nodular mesangiosclerosis	biolink:OntologyClass	hp		Lobular, round to oval mesangial lesions with an acellular hyaline/matrix core surrounded by compressed mesangial nuclei.	http://purl.obolibrary.org/obo/HP_0033549		
OBO:HP_0033550	Necrotizing pulmonary granulomatosis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033550		Caseating pulmonary granulomatosis
OBO:HP_0033551	Non-necrotizing pulmonary granulomatosis	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0033551		A granuloma located in the lung that is not associated with necrotic changes.|Non-caseating pulmonary granulomatosis
OBO:HP_0033552	Chronic villitis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033552		Chronic villitis (non-infectious)|Nonspecific chronic villitis|Villitis of unknown etiology
OBO:HP_0033553	Septic embolism	biolink:OntologyClass	hp		Embolization of intravascular thrombus containing microorganisms into the distant tissues via arterial system.	http://purl.obolibrary.org/obo/HP_0033553		Septic emboli
OBO:HP_0033554	Anti-Mi2 antibody positivity	biolink:OntologyClass	hp		The presence of autoantibodies in the blood circulation that react against the Mi-2 antigen.	http://purl.obolibrary.org/obo/HP_0033554		
OBO:HP_0033555	Anti-Ro/SS-A antibody positivity	biolink:OntologyClass	hp		The presence of autoantibodies in the blood circulation that react against Ro/SSA autoantigens.	http://purl.obolibrary.org/obo/HP_0033555		
OBO:HP_0033556	Anti-nucleoporin 62 antibody positivity	biolink:OntologyClass	hp		The presence of autoantibodies (immunoglobulins) in the serum that react against nucleoporin 62.	http://purl.obolibrary.org/obo/HP_0033556		Anti-p62 antibody positivity
OBO:HP_0033557	Anti-proteinase 3 antibody positivity	biolink:OntologyClass	hp		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	http://purl.obolibrary.org/obo/HP_0033557		Anti-PR3 antibody positivity
OBO:HP_0033558	Anti-histone antibody positivity	biolink:OntologyClass	hp		The presence of autoantibodies in the blood circulation that react against histone antigens.	http://purl.obolibrary.org/obo/HP_0033558		
OBO:HP_0033559	Anti-myeloperoxidase antibody positivity	biolink:OntologyClass	hp		The presence of autoantibodies in the blood circulation that react against myeloperoxidase.	http://purl.obolibrary.org/obo/HP_0033559		Anti-MPO antibody positivity
OBO:HP_0033560	Anti-PM-Scl antibody positivity	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033560		
OBO:HP_0033561	Anti-bactericidal/permeability-increasing protein antibody positivity	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033561		Anti-BPI antibody positivity
OBO:HP_0033562	Anti-glycoprotein-210 antibody positivity	biolink:OntologyClass	hp		The presence of autoantibodies (immunoglobulins) in the serum that react against glycoprotein-210.	http://purl.obolibrary.org/obo/HP_0033562		Anti-gp210 antibody positivity
OBO:HP_0033563	Anti-tissue transglutaminase antibody positivity	biolink:OntologyClass	hp		The presence of autoantibodies (immunoglobulins) in the serum that react against tissue transglutaminase.	http://purl.obolibrary.org/obo/HP_0033563		Anti-tTG antibody positivity
OBO:HP_0033564	Stasis dermatitis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033564		Varicose eczema|Venous eczema
OBO:HP_0033565	Anti-epidermal transglutaminase antibody positivity	biolink:OntologyClass	hp		The presence of autoantibodies (immunoglobulins) in the blood circulation that react against epidermal transglutaminase.	http://purl.obolibrary.org/obo/HP_0033565		Anti-eTG antibody positivity
OBO:HP_0033566	Abnormal ventricular axis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033566		Abnormal QRS axis
OBO:HP_0033567	Right axis deviation	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033567		RAD|Electrical right axis deviation
OBO:HP_0033568	Left axis deviation	biolink:OntologyClass	hp		A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between -30 degrees and -90 degrees.	http://purl.obolibrary.org/obo/HP_0033568		Electrical left axis deviation
OBO:HP_0033569	Extreme axis deviation	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033569		
OBO:HP_0033570	Indeterminate ventricular axis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033570		
OBO:HP_0033571	Peripheral lung neovascularity	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033571		
OBO:HP_0033572	Anti-H1 antibody positivity	biolink:OntologyClass	hp		The presence of autoantibodies in the blood circulation that react against histone H1.	http://purl.obolibrary.org/obo/HP_0033572		
OBO:HP_0033573	Anti-H4 antibody positivity	biolink:OntologyClass	hp		The presence of autoantibodies in the blood circulation that react against histone H4.	http://purl.obolibrary.org/obo/HP_0033573		
OBO:HP_0033574	Anti-H3 antibody positivity	biolink:OntologyClass	hp		The presence of autoantibodies in the blood circulation that react against histone H3.	http://purl.obolibrary.org/obo/HP_0033574		
OBO:HP_0033575	Anti-H2A antibody positivity	biolink:OntologyClass	hp		The presence of autoantibodies in the blood circulation that react against histone H2A.	http://purl.obolibrary.org/obo/HP_0033575		
OBO:HP_0033576	Anti-H2B antibody positivity	biolink:OntologyClass	hp		The presence of autoantibodies in the blood circulation that react against histone H2B.	http://purl.obolibrary.org/obo/HP_0033576		
OBO:HP_0033577	In situ pulmonary artery thrombosis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033577		
OBO:HP_0033578	Pre-capillary pulmonary hypertension	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0033578		Precapillary pulmonary hypertension
OBO:HP_0033579	Decreased growth hormone responses to growth hormone-releasing hormone challenge	biolink:OntologyClass	hp		Insufficient growth hormone secretion following administration of growth hormone-releasing hormone.	http://purl.obolibrary.org/obo/HP_0033579		Impaired growth hormone secretory responses after growth hormone-releasing hormone challenge
OBO:HP_0033580	Compound motor action potential abnormality	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0033580		
OBO:HP_0033581	Absent peripheral lymph nodes in presence of infection	biolink:OntologyClass	hp		The absence of any palpable lymph nodes in the presence of symptoms suggesting infection in that drainage area should raise suspicion for immunodeficiency diseases.	http://purl.obolibrary.org/obo/HP_0033581		
OBO:HP_0033582	Pulmonary interstitial lymphocyte infiltration	biolink:OntologyClass	hp		Abnormal accumulation of lymphocytes in the interstitium of the lung.	http://purl.obolibrary.org/obo/HP_0033582		
OBO:HP_0033583	Follicular bronchiolitis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033583		
OBO:HP_0033584	Nonspecific interstitial pneumonia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033584		NSIP|Nonspecific interstitial pneumonitis|Temporally uniform pulmonary inflammation
OBO:HP_0033585	Fibrotic non-specific interstitial pneumonia	biolink:OntologyClass	hp		A type of non-specific interstitial pneumonia in which interstitial thickening is due to uniform dense or loose fibrosis and mild chronic inflammation.	http://purl.obolibrary.org/obo/HP_0033585		
OBO:HP_0033586	Cellular non-specific interstitial pneumonia	biolink:OntologyClass	hp		A type of non-specific interstitial pneumonia in which interstitial thickening is mainly due to infiltration of inflammatory cells and type II pneumocyte hyperplasia.	http://purl.obolibrary.org/obo/HP_0033586		
OBO:HP_0033587	Vulvar abscess	biolink:OntologyClass	hp		A circumscribed area of pus or necrotic debris in the vulvar region.	http://purl.obolibrary.org/obo/HP_0033587		
OBO:HP_0033588	Labial adhesion	biolink:OntologyClass	hp		Synechia vulvae (adhesions of the labia minora) are characterized by a complete or partial fusion of the labia minora in the midline.	http://purl.obolibrary.org/obo/HP_0033588		Labial agglutination|Synechia vulvae
OBO:HP_0033589	Flatulence	biolink:OntologyClass	hp		Passage of excessive amounts of gas and the feeling of abdominal fullness and bloating.	http://purl.obolibrary.org/obo/HP_0033589		
OBO:HP_0033590	Inguinal abscess	biolink:OntologyClass	hp		A circumscribed area of pus or necrotic debris in the groin (inguinal region).	http://purl.obolibrary.org/obo/HP_0033590		Groin abscess
OBO:HP_0033591	Staghorn calculus	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033591		Staghorn renal stone
OBO:HP_0033592	Anti-H3-H4 antibody positivity	biolink:OntologyClass	hp		The presence of autoantibodies in the blood circulation that react against the H3-H4 histone dimer.	http://purl.obolibrary.org/obo/HP_0033592		
OBO:HP_0033593	Anti-H2A-H2B antibody positivity	biolink:OntologyClass	hp		The presence of autoantibodies in the blood circulation that react against the H2A-H2B histone dimer.	http://purl.obolibrary.org/obo/HP_0033593		
OBO:HP_0033594	Elevated urinary 7-biopterin level	biolink:OntologyClass	hp		An abnormally increased amount of 7-biopterin in the urine.	http://purl.obolibrary.org/obo/HP_0033594		Primapterinuria
OBO:HP_0033595	Elevated circulating globotriaosylceramide concentration	biolink:OntologyClass	hp		Increased concentration of globotriaosylceramide (Gb3) in the blood circulation. Globotriaosylceramide, also named ceramidetrihexoside, is the primary lipid storage in Fabry disease.	http://purl.obolibrary.org/obo/HP_0033595		Elevated circulating ceramidetrihexoside concentration
OBO:HP_0033596	Elevated urinary 3-methylcrotonylglycine level	biolink:OntologyClass	hp		An abnormally increased amount of 3-methylcrotonylglycine in the urine.	http://purl.obolibrary.org/obo/HP_0033596		
OBO:HP_0033597	Decreased mucosal sucrase-isomaltase activity	biolink:OntologyClass	hp		Reduced activity of the linked disaccharidase, sucrase-isomaltase, which is a glycoprotein localized to the brush border membrane of small intestinal villi.	http://purl.obolibrary.org/obo/HP_0033597		
OBO:HP_0033598	Fibrillar glomerular subepithelial deposits	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0033598		
OBO:HP_0033599	Glomerular amyloid subepithelial deposits	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0033599		
OBO:HP_0033600	Fibrillary glomerular subepithelial deposits	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0033600		
OBO:HP_0033601	Glomerular subepithelial immune-complex deposits	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0033601		
OBO:HP_0033602	Glomerular hyaline subepithelial deposits	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0033602		
OBO:HP_0033603	Glomerular subepithelial deposits	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0033603		
OBO:HP_0033604	Glomerular capillary wire loop deposits	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033604		
OBO:HP_0033605	Pustular rash	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033605		Pustulosis
OBO:HP_0033606	Bone marrow maturation arrest	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033606		Hematopoietic maturation arrest
OBO:HP_0033607	Bone marrow arrest at the promyelocytic stage	biolink:OntologyClass	hp		A type of bone marrow maturation arrest characterized by accumulation of neutrophil precursor cells in the bone marrow.	http://purl.obolibrary.org/obo/HP_0033607		
OBO:HP_0033608	Pulmonary nodule	biolink:OntologyClass	hp		Focal rounded or ovoid opacity, not more than 3 cm in diameter. Pulmonary nodules are typically observed by chest radiography or computer tomography imaging.	http://purl.obolibrary.org/obo/HP_0033608		
OBO:HP_0033609	Solid pulmonary nodule	biolink:OntologyClass	hp		A type of pulmonary nodule whose density obscures the underlying parenchyma and thus has a "solid" appearance.	http://purl.obolibrary.org/obo/HP_0033609		
OBO:HP_0033610	Subsolid pulmonary nodule	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033610		
OBO:HP_0033611	Part-solid pulmonary nodule	biolink:OntologyClass	hp		Part-solid pulmonary nodules are nodules that present with both ground-glass and solid components in which the underlying lung architecture cannot be visualized.	http://purl.obolibrary.org/obo/HP_0033611		
OBO:HP_0033612	Pure ground-glass pulmonary nodule	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033612		
OBO:HP_0033613	Perifissural pulmonary nodule	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033613		
OBO:HP_0033614	Tracheal bronchus	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033614		
OBO:HP_0033615	Displaced tracheal bronchus	biolink:OntologyClass	hp		Accessory bronchus originating from trachea replacing one of the segmental branches of the anatomically normal upper lobe bronchus.	http://purl.obolibrary.org/obo/HP_0033615		
OBO:HP_0033616	Accessory cardiac bronchus	biolink:OntologyClass	hp		Accessory bronchus originating from the medial wall of the right or left ban bronchus or bronchus intermedius. A cardiac bronchus is usually blind-ended.	http://purl.obolibrary.org/obo/HP_0033616		
OBO:HP_0033617	Supernumerary tracheal bronchus	biolink:OntologyClass	hp		Accessory bronchus which exits the trachea in addition to an anatomically normal branching upper lobe bronchus.	http://purl.obolibrary.org/obo/HP_0033617		
OBO:HP_0033618	Displaced lobar tracheal bronchus	biolink:OntologyClass	hp		Accessory entire right upper lobe bronchial system originating from the trachea with absent anatomically normal upper lobe bronchus.	http://purl.obolibrary.org/obo/HP_0033618		Bronchus suis|Pig bronchus
OBO:HP_0033619	Typical perifissural nodule	biolink:OntologyClass	hp		A perifissural nodule that has contact with the interlobar septum (and is therefore considered typical).	http://purl.obolibrary.org/obo/HP_0033619		
OBO:HP_0033620	Atypical perifissural nodule	biolink:OntologyClass	hp		A perifissural nodule that does not have contact with the interlobar septum (and is therefore considered atypical).	http://purl.obolibrary.org/obo/HP_0033620		
OBO:HP_0033621	Bronchial diverticula	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033621		
OBO:HP_0033622	Migratory erythematous plaque	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033622		
OBO:HP_0033623	Birth history	biolink:OntologyClass	hp		Information about the delivery and health status at birth typically elicited as a part of the past medical history.	http://purl.obolibrary.org/obo/HP_0033623		
OBO:HP_0033624	History of congenital CMV infection	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033624		History of congenital cytomegalovirus infection
OBO:HP_0033625	Emotional insecurity	biolink:OntologyClass	hp		A feeling of general unease or nervousness that may be triggered by a sense of vulnerability or instability which is perceived as threatening.	http://purl.obolibrary.org/obo/HP_0033625		
OBO:HP_0033626	Increased non-HDL cholesterol concentration	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0033626		Elevated non-HDL cholesterol concentration
OBO:HP_0033627	Increased urine harderoporphyrin level	biolink:OntologyClass	hp		Increased amount of harderoporphyrin in the urine.	http://purl.obolibrary.org/obo/HP_0033627		
OBO:HP_0033628	Bowel irritability	biolink:OntologyClass	hp		Intermittent abdominal pain with diarrhea and/or constipation.	http://purl.obolibrary.org/obo/HP_0033628		
OBO:HP_0033629	IgG4 autoimmune antibody positivity	biolink:OntologyClass	hp		The presence of an antibody of subclass IgG4 in the blood circulation that is directed against the organism's own cells or tissues.	http://purl.obolibrary.org/obo/HP_0033629		
OBO:HP_0033630	Brain fog	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033630		Mental clouding|Mental fatigue|Mental fog
OBO:HP_0033631	Spondylitis	biolink:OntologyClass	hp		Inflammation of the vertebrae (vertebral bodies) or spine.	http://purl.obolibrary.org/obo/HP_0033631		
OBO:HP_0033632	Abnormal alveolar volume	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033632		
OBO:HP_0033633	Decreased alveolar volume	biolink:OntologyClass	hp		An abnormal reduction in alveolar volume.	http://purl.obolibrary.org/obo/HP_0033633		
OBO:HP_0033634	Increased alveolar volume	biolink:OntologyClass	hp		An abnormal elevation in alveolar volume.	http://purl.obolibrary.org/obo/HP_0033634		
OBO:HP_0033635	Post-capillary pulmonary hypertension	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0033635		Postcapillary pulmonary hypertension
OBO:HP_0033636	Combined pre- and post-capillary pulmonary hypertension	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0033636		
OBO:HP_0033637	Anti-endomysial antibody positivity	biolink:OntologyClass	hp		The presence of autoantibodies (immunoglobulins) in the blood circulation that react against endomysial tissue transglutaminase 2 (tTG2).	http://purl.obolibrary.org/obo/HP_0033637		
OBO:HP_0033638	Intralobular septal thickening	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033638		Intralobular lines
OBO:HP_0033639	Septic pulmonary embolism	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033639		Septic pulmonary emboli
OBO:HP_0033640	Acetabular erosions	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033640		
OBO:HP_0033641	Aortic valve leaflet calcification	biolink:OntologyClass	hp		Deposition of calcium salts in the leaflets (cusps) of the aortic valve.	http://purl.obolibrary.org/obo/HP_0033641		Aortic cusp calcification|Aortic valve cusp calcification
OBO:HP_0033642	Mitral valve leaflet calcification	biolink:OntologyClass	hp		Deposition of calcium salts in the leaflets (cusps) of the mitral valve.	http://purl.obolibrary.org/obo/HP_0033642		
OBO:HP_0033643	Increased circulating very long-chain fatty acid concentration	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033643		Increased plasma levels of very long-chain fatty acid
OBO:HP_0033644	Elevated circulating erythropoietin concentration	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033644		Elevated circulating erythropoietin
OBO:HP_0033645	Midline brainstem cleft	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033645		
OBO:HP_0033646	Absent hippocampal commissure	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033646		Agenesis of the hippocampal commissure
OBO:HP_0033647	Silhouette sign	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033647		
OBO:HP_0033648	Pulmonary pseudocavity	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033648		
OBO:HP_0033649	Paraseptal emphysema	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033649		Distal acinar emphysema
OBO:HP_0033650	Pulmonary parenchymal band	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033650		
OBO:HP_0033651	Pulmonary mycetoma	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033651		Lung fungus ball
OBO:HP_0033652	Broncholith	biolink:OntologyClass	hp		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	http://purl.obolibrary.org/obo/HP_0033652		
OBO:HP_0033653	Bronchocele	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033653		
OBO:HP_0033654	Beaded septum sign	biolink:OntologyClass	hp		Irregular and nodular thickening of interlobular septa reminiscent of a row of beads.	http://purl.obolibrary.org/obo/HP_0033654		
OBO:HP_0033655	Pulmonary cavity	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033655		Pulmonary cavern
OBO:HP_0033656	Juxtaphrenic peak	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033656		
OBO:HP_0033657	Linear atelectasis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033657		Discoid atelectasis|Platelike atelectasis
OBO:HP_0033658	Rounded atelectasis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033658		Blesovsky syndrome|Comet tail sign|Folded lung syndrome|Helical atelectasis|Pleural pseudotumor|Pleuroma
OBO:HP_0033659	Crazy-paving pattern	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033659		
OBO:HP_0033660	Hand paresthesia	biolink:OntologyClass	hp		Tingling (often refered to as a pins and needles feeling) and numbness in the hand.	http://purl.obolibrary.org/obo/HP_0033660		Hand numbness|Hand tingling
OBO:HP_0033661	Air crescent	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033661		
OBO:HP_0033662	Air bronchogram	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0033662		
OBO:HP_0033663	Air trapping	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033663		
OBO:HP_0033664	Ganglioglioma	biolink:OntologyClass	hp	NCIT:C3788	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.	http://purl.obolibrary.org/obo/HP_0033664		
OBO:HP_0033665	Diminished health-related quality of life	biolink:OntologyClass	hp		A reduction in an individual's subjective assessment of his or her sense of well-being and ability to perform social roles.	http://purl.obolibrary.org/obo/HP_0033665		
OBO:HP_0033666	Diminished physical functioning	biolink:OntologyClass	hp		A reduction in the ability to perform activities of daily living because of illness of functional deficits as compared to previous abilities. The 36-item Short Form (SF-36) health survey questionnaire is one of many methods used to measure patients' perceptions of diminished physical functioning.	http://purl.obolibrary.org/obo/HP_0033666		Decline in physical functional health|Diminished physical health
OBO:HP_0033667	Diminished mental health	biolink:OntologyClass	hp		A reduction in the subjective feeling of mental well being.	http://purl.obolibrary.org/obo/HP_0033667		Mental impairment|Reduced mental health
OBO:HP_0033668	Abnormal amygdala morphology	biolink:OntologyClass	hp		A structural anomaly of the amygdala.	http://purl.obolibrary.org/obo/HP_0033668		Abnormal morphology of the amygdala
OBO:HP_0033669	Enlarged amygdala	biolink:OntologyClass	hp		A increase in the volume (size) of the amygdyla.	http://purl.obolibrary.org/obo/HP_0033669		Amygdalar enlargement
OBO:HP_0033670	Organizing pneumonia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033670		
OBO:HP_0033671	Pulmonary oligemia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033671		
OBO:HP_0033672	Positive carpal Tinel sign	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033672		Positive carpal Hoffmann Tinel sign
OBO:HP_0033673	Positive Phalen test	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0033673		Phalen maneuver
OBO:HP_0033674	Pulmonary blood flow redistribution	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0033674		
OBO:HP_0040004	Abnormality of corneal shape	biolink:OntologyClass	hp	UMLS:C4022500		http://purl.obolibrary.org/obo/HP_0040004		
OBO:HP_0040006	Mortality/Aging	biolink:OntologyClass	hp	UMLS:C4022499		http://purl.obolibrary.org/obo/HP_0040006		
OBO:HP_0040007	Absent pigmentation of chest	biolink:OntologyClass	hp	UMLS:C4022498	Lack of skin pigmentation (coloring) of the chest.	http://purl.obolibrary.org/obo/HP_0040007		Lack of skin coloring on chest
OBO:HP_0040008	Aplasia of facial bones	biolink:OntologyClass	hp	UMLS:C1385254|UMLS:C4022497|UMLS:C4280300|UMLS:C4280301		http://purl.obolibrary.org/obo/HP_0040008		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
OBO:HP_0040009	Hyperparakeratosis	biolink:OntologyClass	hp	SNOMEDCT_US:125554003|UMLS:C1265968	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.	http://purl.obolibrary.org/obo/HP_0040009		
OBO:HP_0040010	Small posterior fossa	biolink:OntologyClass	hp	UMLS:C4022496		http://purl.obolibrary.org/obo/HP_0040010		
OBO:HP_0040011	Flat posterior fossa	biolink:OntologyClass	hp	UMLS:C4022495		http://purl.obolibrary.org/obo/HP_0040011		
OBO:HP_0040012	Chromosome breakage	biolink:OntologyClass	hp	MSH:D019457|UMLS:C0376628	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.	http://purl.obolibrary.org/obo/HP_0040012		High frequency of chromosome breaks in lymphocytes|Increased chromosomal breakage|Increased chromosomal breakage rate|Multiple chromosomal breaks|Tendency to chromosomal breakage
OBO:HP_0040013	Decreased mitochondrial number	biolink:OntologyClass	hp	UMLS:C4022493		http://purl.obolibrary.org/obo/HP_0040013		
OBO:HP_0040014	Increased mitochondrial number	biolink:OntologyClass	hp	UMLS:C4022492		http://purl.obolibrary.org/obo/HP_0040014		
OBO:HP_0040015	Increased activity of mitochondrial respiratory chain	biolink:OntologyClass	hp	UMLS:C4022491		http://purl.obolibrary.org/obo/HP_0040015		
OBO:HP_0040016	Prominent coccyx	biolink:OntologyClass	hp	UMLS:C4022490		http://purl.obolibrary.org/obo/HP_0040016		Prominent tailbone
OBO:HP_0040017	Protruding coccyx	biolink:OntologyClass	hp	UMLS:C4022489		http://purl.obolibrary.org/obo/HP_0040017		Protruding tailbone
OBO:HP_0040018	Clinodactyly of hallux	biolink:OntologyClass	hp	UMLS:C4022488|UMLS:C4280299		http://purl.obolibrary.org/obo/HP_0040018		Curvature of big toe
OBO:HP_0040019	Finger clinodactyly	biolink:OntologyClass	hp	SNOMEDCT_US:17268007|UMLS:C0265610|UMLS:C4280298		http://purl.obolibrary.org/obo/HP_0040019		Curvature of finger
OBO:HP_0040020	Radial deviation of the 5th finger	biolink:OntologyClass	hp	UMLS:C4022487		http://purl.obolibrary.org/obo/HP_0040020		
OBO:HP_0040021	Radial deviation of the thumb	biolink:OntologyClass	hp	UMLS:C2168996		http://purl.obolibrary.org/obo/HP_0040021		
OBO:HP_0040022	Clinodactyly of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4022486		http://purl.obolibrary.org/obo/HP_0040022		Curvature of index finger|Second finger clinodactyly
OBO:HP_0040023	Clinodactyly of the thumb	biolink:OntologyClass	hp	UMLS:C1856888|UMLS:C4280297		http://purl.obolibrary.org/obo/HP_0040023		Curvature of thumb
OBO:HP_0040024	Clinodactyly of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4022485|UMLS:C4280296		http://purl.obolibrary.org/obo/HP_0040024		Curvature of middle finger
OBO:HP_0040025	Clinodactyly of the 4th finger	biolink:OntologyClass	hp	UMLS:C4022484|UMLS:C4280295		http://purl.obolibrary.org/obo/HP_0040025		Curvature of ring finger
OBO:HP_0040030	Chorioretinal hypopigmentation	biolink:OntologyClass	hp	UMLS:C4022483		http://purl.obolibrary.org/obo/HP_0040030		
OBO:HP_0040031	Chorioretinal hyperpigmentation	biolink:OntologyClass	hp	UMLS:C4022482		http://purl.obolibrary.org/obo/HP_0040031		
OBO:HP_0040032	Hypoplasia of the upper eyelids	biolink:OntologyClass	hp	UMLS:C4022481		http://purl.obolibrary.org/obo/HP_0040032		Small upper eyelid|Decreased size of upper eyelid|Underdevelopment of upper eyelid|Short upper eyelid|Hypotrophic upper eyelid
OBO:HP_0040033	Aplasia/Hypoplasia of the fifth metatarsal bone	biolink:OntologyClass	hp	UMLS:C4022480		http://purl.obolibrary.org/obo/HP_0040033		Absent/small 5th long bone of foot|Absent/underdeveloped 5th long bone of foot
OBO:HP_0040034	Abnormality of the second metatarsal bone	biolink:OntologyClass	hp	UMLS:C4022479		http://purl.obolibrary.org/obo/HP_0040034		Abnormality of the 2nd long bone of foot
OBO:HP_0040035	Abnormality of the fourth metatarsal bone	biolink:OntologyClass	hp	UMLS:C4022478		http://purl.obolibrary.org/obo/HP_0040035		Abnormality of the 4th long bone of foot
OBO:HP_0040036	Onychogryposis of fingernail	biolink:OntologyClass	hp	UMLS:C4022477	Thickened fingernails.	http://purl.obolibrary.org/obo/HP_0040036		Overgrowth and curving of fingernail
OBO:HP_0040037	obsolete Thin fingernail (obsolete)	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0040037		
OBO:HP_0040038	obsolete Thin toenail	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0040038		
OBO:HP_0040039	Onycholysis of fingernails	biolink:OntologyClass	hp	UMLS:C3553044		http://purl.obolibrary.org/obo/HP_0040039		Detachment of fingernails|Onycholysis of fingernail
OBO:HP_0040040	Toenail onycholysis	biolink:OntologyClass	hp	UMLS:C4022476	Painless and spontaneous separation of a toenail from the nail bed.	http://purl.obolibrary.org/obo/HP_0040040		Detachment of toenails|Onycholysis of toenails
OBO:HP_0040042	Aplasia of the eccrine sweat glands	biolink:OntologyClass	hp	UMLS:C4022475		http://purl.obolibrary.org/obo/HP_0040042		Absent eccrine sweat glands
OBO:HP_0040043	Hypoplasia of the eccrine sweat glands	biolink:OntologyClass	hp	UMLS:C4022474		http://purl.obolibrary.org/obo/HP_0040043		Underdeveloped major sweat glands
OBO:HP_0040044	Hypoplasia of the diaphragm	biolink:OntologyClass	hp	UMLS:C4022473		http://purl.obolibrary.org/obo/HP_0040044		Underdeveloped diaphragm
OBO:HP_0040045	Abnormal hemidiaphragm morphology	biolink:OntologyClass	hp	UMLS:C4022472		http://purl.obolibrary.org/obo/HP_0040045		Abnormality of the hemidiaphragms
OBO:HP_0040046	Abnormal left hemidiaphragm morphology	biolink:OntologyClass	hp	UMLS:C4022471		http://purl.obolibrary.org/obo/HP_0040046		Abnormality of the left hemidiaphragm
OBO:HP_0040047	Abnormal right hemidiaphragm morphology	biolink:OntologyClass	hp	UMLS:C4022470		http://purl.obolibrary.org/obo/HP_0040047		Abnormality of the right hemidiaphragm
OBO:HP_0040048	obsolete Aplasia of the left hemidiaphragm	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0040048		
OBO:HP_0040049	Macular edema	biolink:OntologyClass	hp	MSH:D008269|SNOMEDCT_US:37231002|UMLS:C0271051	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.	http://purl.obolibrary.org/obo/HP_0040049		Macular oedema
OBO:HP_0040050	Sparse upper eyelashes	biolink:OntologyClass	hp	UMLS:C4022468		http://purl.obolibrary.org/obo/HP_0040050		Partial absence of upper eyelashes|Sparse upper eyelashes|Hypotrichosis of upper eyelashes
OBO:HP_0040051	Abnormality of upper eyelashes	biolink:OntologyClass	hp	UMLS:C4022467		http://purl.obolibrary.org/obo/HP_0040051		Abnormality of upper eyelashes
OBO:HP_0040052	Abnormality of lower eyelashes	biolink:OntologyClass	hp	UMLS:C4022466		http://purl.obolibrary.org/obo/HP_0040052		Abnormality of lower eyelashes
OBO:HP_0040053	Long lower eyelashes	biolink:OntologyClass	hp	UMLS:C4022465		http://purl.obolibrary.org/obo/HP_0040053		Increased length of lower eyelashes|Long lower eyelashes|Ciliary trichomegaly of lower eyelashes
OBO:HP_0040054	Short upper eyelashes	biolink:OntologyClass	hp	UMLS:C4022464		http://purl.obolibrary.org/obo/HP_0040054		Decreased length of upper eyelashes|Short upper eyelashes
OBO:HP_0040055	Short lower eyelashes	biolink:OntologyClass	hp	UMLS:C4022463		http://purl.obolibrary.org/obo/HP_0040055		Decreased length of lower eyelashes|Short lower eyelashes
OBO:HP_0040056	Absent upper eyelashes	biolink:OntologyClass	hp	UMLS:C4022462|UMLS:C4280255|UMLS:C4280294		http://purl.obolibrary.org/obo/HP_0040056		Absent upper eyelashes|Failure of development of upper eyelashes|Atrichia of upper eyelashes|Agenesis of upper eyelashes|Aplasia of upper eyelashes
OBO:HP_0040057	Abnormality of nasal hair	biolink:OntologyClass	hp	UMLS:C4021858		http://purl.obolibrary.org/obo/HP_0040057		Abnormality of nasal hair|Abnormality of nose hair
OBO:HP_0040059	Calcification of ribs	biolink:OntologyClass	hp	UMLS:C4022461		http://purl.obolibrary.org/obo/HP_0040059		
OBO:HP_0040061	Osteosclerosis of the radius	biolink:OntologyClass	hp	UMLS:C4022460		http://purl.obolibrary.org/obo/HP_0040061		
OBO:HP_0040062	Slender radius	biolink:OntologyClass	hp	UMLS:C1968813		http://purl.obolibrary.org/obo/HP_0040062		
OBO:HP_0040063	Decreased adipose tissue	biolink:OntologyClass	hp	UMLS:C4022459		http://purl.obolibrary.org/obo/HP_0040063		Decreased fat tissue
OBO:HP_0040064	Abnormality of limbs	biolink:OntologyClass	hp	SNOMEDCT_US:445144002|UMLS:C0239337|UMLS:C4073131		http://purl.obolibrary.org/obo/HP_0040064		Abnormal limbs|Abnormality of limbs|Limb anomaly|Dysmelia
OBO:HP_0040065	obsolete Abnormal morphology of bones of the upper limbs	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0040065		
OBO:HP_0040066	obsolete Abnormal morphology of bones of the lower limbs	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0040066		
OBO:HP_0040068	Abnormality of limb bone	biolink:OntologyClass	hp	UMLS:C4022456		http://purl.obolibrary.org/obo/HP_0040068		Abnormality of limb bone
OBO:HP_0040069	Abnormal lower limb bone morphology	biolink:OntologyClass	hp	UMLS:C4022455|UMLS:C4022457		http://purl.obolibrary.org/obo/HP_0040069		Abnormal shape of bones of the lower limbs|Abnormality of lower limb bone|Abnormal morphology of bones of the lower limbs
OBO:HP_0040070	Abnormal upper limb bone morphology	biolink:OntologyClass	hp	UMLS:C4022454|UMLS:C4022458		http://purl.obolibrary.org/obo/HP_0040070		Abnormal shape of bones of the upper limbs|Abnormality of upper limb bone|Abnormal morphology of bones of the upper limbs
OBO:HP_0040071	Abnormal morphology of ulna	biolink:OntologyClass	hp	UMLS:C4022453		http://purl.obolibrary.org/obo/HP_0040071		
OBO:HP_0040072	Abnormality of forearm bone	biolink:OntologyClass	hp	UMLS:C4022452		http://purl.obolibrary.org/obo/HP_0040072		Abnormality of forearm bone
OBO:HP_0040073	Abnormal forearm bone morphology	biolink:OntologyClass	hp	UMLS:C4022451		http://purl.obolibrary.org/obo/HP_0040073		Abnormal shape of of forearm bone
OBO:HP_0040075	Hypopituitarism	biolink:OntologyClass	hp	MSH:D007018|SNOMEDCT_US:74728003|UMLS:C0020635		http://purl.obolibrary.org/obo/HP_0040075		
OBO:HP_0040077	obsolete Abnormal concentration of calcium in blood	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0040077		
OBO:HP_0040078	Axonal degeneration	biolink:OntologyClass	hp	UMLS:C1837496		http://purl.obolibrary.org/obo/HP_0040078		
OBO:HP_0040079	Irregular dentition	biolink:OntologyClass	hp	UMLS:C1856765		http://purl.obolibrary.org/obo/HP_0040079		Irregular teeth
OBO:HP_0040080	Anteverted ears	biolink:OntologyClass	hp	UMLS:C1857055		http://purl.obolibrary.org/obo/HP_0040080		
OBO:HP_0040081	Abnormal circulating creatine kinase concentration	biolink:OntologyClass	hp	UMLS:C4022449	Any deviation from the normal circulating creatine kinase concentration.	http://purl.obolibrary.org/obo/HP_0040081		Abnormal circulating CK concentration|Abnormal circulating CPK concentration|Abnormal levels of creatine kinase in blood|Abnormal circulation phospho-CK concentration
OBO:HP_0040082	Happy demeanor	biolink:OntologyClass	hp	UMLS:C1856115	A conspicuously happy disposition with frequent smiling and laughing that may be context-inappropriate or unrelated to context.	http://purl.obolibrary.org/obo/HP_0040082		Happy demeanor|Happy demeanour
OBO:HP_0040083	Toe walking	biolink:OntologyClass	hp	SNOMEDCT_US:250018006|UMLS:C0427144		http://purl.obolibrary.org/obo/HP_0040083		Toe walking|Toe-walking
OBO:HP_0040084	Abnormal circulating renin	biolink:OntologyClass	hp	UMLS:C4021038	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.	http://purl.obolibrary.org/obo/HP_0040084		Abnormal circulating renin|Abnormal plasma renin
OBO:HP_0040085	Abnormal circulating aldosterone	biolink:OntologyClass	hp	UMLS:C0857898		http://purl.obolibrary.org/obo/HP_0040085		Abnormal circulating aldosterone|Abnormal plasma aldosterone
OBO:HP_0040086	Abnormal prolactin level	biolink:OntologyClass	hp	UMLS:C4022448		http://purl.obolibrary.org/obo/HP_0040086		Abnormal prolactin level
OBO:HP_0040087	Abnormal blood folate concentration	biolink:OntologyClass	hp	UMLS:C4021037	Any deviation from the normal concentration of folate in the blood circulation.	http://purl.obolibrary.org/obo/HP_0040087		Abnormal serum folate|Abnormality of folate in blood
OBO:HP_0040088	Abnormal lymphocyte count	biolink:OntologyClass	hp	SNOMEDCT_US:165534000|UMLS:C0580550	Any abnormality in the total number of lymphocytes in the blood.	http://purl.obolibrary.org/obo/HP_0040088		Abnormal lymphocyte count|Abnormal lymphocyte counts|Abnormal number of lymphocytes|Abnormal numbers of lymphocytes|Abnormality of lymphocyte number
OBO:HP_0040089	Abnormal natural killer cell count	biolink:OntologyClass	hp	UMLS:C4021036	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.	http://purl.obolibrary.org/obo/HP_0040089		Abnormal NK cell count|Abnormal natural killer cell count|Abnormal number of natural killer cells|Abnormality of natural killer cell count
OBO:HP_0040090	Abnormality of the tympanic membrane	biolink:OntologyClass	hp	UMLS:C4022447	An abnormality of the tympanic membrane	http://purl.obolibrary.org/obo/HP_0040090		Abnormality of the eardrum
OBO:HP_0040091	Asymmetry of the size of ears	biolink:OntologyClass	hp	UMLS:C4022446		http://purl.obolibrary.org/obo/HP_0040091		Asymmetry of the size of ears
OBO:HP_0040092	Asymmetry of the shape of the ears	biolink:OntologyClass	hp	UMLS:C4022445		http://purl.obolibrary.org/obo/HP_0040092		Asymmetry of the shape of the ears
OBO:HP_0040093	Asymmetry of the position of the ears	biolink:OntologyClass	hp	UMLS:C4022444		http://purl.obolibrary.org/obo/HP_0040093		Uneven ears
OBO:HP_0040095	Neoplasm of the outer ear	biolink:OntologyClass	hp	NCIT:C3262|UMLS:C4022443	A tumor (abnormal growth of tissue) of the outer ear.	http://purl.obolibrary.org/obo/HP_0040095		Outer ear tumor
OBO:HP_0040096	Neoplasm of the inner ear	biolink:OntologyClass	hp	NCIT:C3262|UMLS:C1512779	A tumor (abnormal growth of tissue) of the inner ear.	http://purl.obolibrary.org/obo/HP_0040096		Inner ear tumor
OBO:HP_0040097	Neoplasm of the ceruminal gland	biolink:OntologyClass	hp	NCIT:C3262|SNOMEDCT_US:403945001|SNOMEDCT_US:52707009|UMLS:C0334352	A tumor (abnormal growth of tissue) of the ceruminal gland.	http://purl.obolibrary.org/obo/HP_0040097		Adenoma of the ceruminous gland|Ceruminoma|Ceruminous adenoma
OBO:HP_0040098	Basalioma of the outer ear	biolink:OntologyClass	hp	UMLS:C4022442		http://purl.obolibrary.org/obo/HP_0040098		
OBO:HP_0040099	Abnormality of the round window	biolink:OntologyClass	hp	UMLS:C4022441		http://purl.obolibrary.org/obo/HP_0040099		
OBO:HP_0040100	Abnormality of the vestibular window	biolink:OntologyClass	hp	UMLS:C4021035		http://purl.obolibrary.org/obo/HP_0040100		Abnormality of the oval window
OBO:HP_0040101	Cutaneous atresia of the external auditory canal	biolink:OntologyClass	hp	UMLS:C4022440		http://purl.obolibrary.org/obo/HP_0040101		
OBO:HP_0040102	Osseous atresia of the external auditory canal	biolink:OntologyClass	hp	UMLS:C4022439		http://purl.obolibrary.org/obo/HP_0040102		
OBO:HP_0040103	Cutaneous stenosis of the external auditory canal	biolink:OntologyClass	hp	UMLS:C4022438		http://purl.obolibrary.org/obo/HP_0040103		
OBO:HP_0040104	Osseous stenosis of the external auditory canal	biolink:OntologyClass	hp	UMLS:C4022437		http://purl.obolibrary.org/obo/HP_0040104		
OBO:HP_0040106	Morphological abnormality of the lateral semicircular canal	biolink:OntologyClass	hp	UMLS:C4021034		http://purl.obolibrary.org/obo/HP_0040106		Morphological abnormality of the horizontal semicircular canal
OBO:HP_0040107	Morphological abnormality of the posterior semicircular canal	biolink:OntologyClass	hp	UMLS:C4022436		http://purl.obolibrary.org/obo/HP_0040107		
OBO:HP_0040108	Morphological abnormality of the anterior semicircular canal	biolink:OntologyClass	hp	UMLS:C4022435		http://purl.obolibrary.org/obo/HP_0040108		
OBO:HP_0040109	Morphological abnormality of the utricle	biolink:OntologyClass	hp	UMLS:C4022434		http://purl.obolibrary.org/obo/HP_0040109		
OBO:HP_0040110	Morphological abnormality of the saccule	biolink:OntologyClass	hp	UMLS:C4022433		http://purl.obolibrary.org/obo/HP_0040110		
OBO:HP_0040111	Bilateral external ear deformity	biolink:OntologyClass	hp	UMLS:C4022432		http://purl.obolibrary.org/obo/HP_0040111		
OBO:HP_0040112	Abnormal number of tubercles	biolink:OntologyClass	hp	UMLS:C4022431		http://purl.obolibrary.org/obo/HP_0040112		
OBO:HP_0040113	Old-aged sensorineural hearing impairment	biolink:OntologyClass	hp	MSH:D011304|SNOMEDCT_US:49526009|UMLS:C0033074		http://purl.obolibrary.org/obo/HP_0040113		Presbycusis
OBO:HP_0040114	Absence of the reflex of the tensor tympani muscle	biolink:OntologyClass	hp	UMLS:C4022430		http://purl.obolibrary.org/obo/HP_0040114		
OBO:HP_0040115	Abnormality of the Eustachian tube	biolink:OntologyClass	hp	SNOMEDCT_US:204250005|UMLS:C0262475		http://purl.obolibrary.org/obo/HP_0040115		
OBO:HP_0040116	Aplasia of the Eustachian tube	biolink:OntologyClass	hp	SNOMEDCT_US:75231006|UMLS:C0266616		http://purl.obolibrary.org/obo/HP_0040116		Absent eustachian tube
OBO:HP_0040117	Atresia of the Eustachian tube	biolink:OntologyClass	hp	UMLS:C1388953		http://purl.obolibrary.org/obo/HP_0040117		
OBO:HP_0040118	Stenosis of the Eustachian tube	biolink:OntologyClass	hp	SNOMEDCT_US:80101003|UMLS:C0271469		http://purl.obolibrary.org/obo/HP_0040118		
OBO:HP_0040119	Unilateral conductive hearing impairment	biolink:OntologyClass	hp	UMLS:C4022428		http://purl.obolibrary.org/obo/HP_0040119		
OBO:HP_0040120	Abnormality of the reflex of the tensor tympani muscle	biolink:OntologyClass	hp	UMLS:C4022427		http://purl.obolibrary.org/obo/HP_0040120		
OBO:HP_0040121	Abnormality of the acoustic reflex	biolink:OntologyClass	hp	UMLS:C4022426	An abnormality in the reflexive contraction of the middle-ear muscles in response to sound stimulation.	http://purl.obolibrary.org/obo/HP_0040121		Abnormal auditory reflex|Abnormal middle-ear-muscles (MEM) reflex|Abnormality of stapedial reflex
OBO:HP_0040122	Impairment of the the acoustic reflex	biolink:OntologyClass	hp	UMLS:C4022425		http://purl.obolibrary.org/obo/HP_0040122		
OBO:HP_0040123	Impairment of the reflex of the tensor tympani muscle	biolink:OntologyClass	hp	UMLS:C4022424		http://purl.obolibrary.org/obo/HP_0040123		
OBO:HP_0040124	Patent tuba eustachii	biolink:OntologyClass	hp	UMLS:C4021033		http://purl.obolibrary.org/obo/HP_0040124		Open tuba eustachii
OBO:HP_0040126	Abnormal vitamin B12 level	biolink:OntologyClass	hp	UMLS:C4021032	A deviation from the normal concentration of cobalamin (vitamin B12) in the blood. Vitamin B12 is one of the eight B vitamins.	http://purl.obolibrary.org/obo/HP_0040126		Abnormal serum cobalamin level
OBO:HP_0040127	Abnormal sweat homeostasis	biolink:OntologyClass	hp	UMLS:C4022423	An abnormality of the composition of sweat or the levels of its components.	http://purl.obolibrary.org/obo/HP_0040127		
OBO:HP_0040128	Abnormal sweat electrolytes	biolink:OntologyClass	hp	UMLS:C4022422		http://purl.obolibrary.org/obo/HP_0040128		
OBO:HP_0040129	Abnormal nerve conduction velocity	biolink:OntologyClass	hp	UMLS:C1866772		http://purl.obolibrary.org/obo/HP_0040129		Abnormal nerve conduction|Abnormal nerve conduction velocities|Nerve conduction abnormalities
OBO:HP_0040130	Abnormal serum iron concentration	biolink:OntologyClass	hp	UMLS:C0235760		http://purl.obolibrary.org/obo/HP_0040130		
OBO:HP_0040131	Abnormal motor nerve conduction velocity	biolink:OntologyClass	hp	UMLS:C4021031		http://purl.obolibrary.org/obo/HP_0040131		
OBO:HP_0040132	Abnormal sensory nerve conduction velocity	biolink:OntologyClass	hp	UMLS:C4022421		http://purl.obolibrary.org/obo/HP_0040132		
OBO:HP_0040133	Abnormal circulating ferritin concentration	biolink:OntologyClass	hp	UMLS:C0853228	A deviation from the normal circulating concentration of ferritin. Ferritin concentration can be measured in serum or plasma.	http://purl.obolibrary.org/obo/HP_0040133		Abnormal serum ferritin|Abnormal plasma ferritin
OBO:HP_0040134	Abnormal hepatic iron concentration	biolink:OntologyClass	hp	UMLS:C4022420		http://purl.obolibrary.org/obo/HP_0040134		Abnormal liver iron concentration|Abnormal liver iron level
OBO:HP_0040135	Abnormal transferrin saturation	biolink:OntologyClass	hp	UMLS:C4022419	Any abnormality in the serum transferrin saturation, which is calculated by dividing the serum iron level by total iron-binding capacity.	http://purl.obolibrary.org/obo/HP_0040135		
OBO:HP_0040137	Comedonal acne	biolink:OntologyClass	hp	UMLS:C4022418	A type of acne in which open and closed comedones comprise the majority of the lesions, with substantially fewer papules and pustules.	http://purl.obolibrary.org/obo/HP_0040137		Comedogenic acne
OBO:HP_0040138	Mucinous histiocytosis	biolink:OntologyClass	hp	SNOMEDCT_US:87412005|UMLS:C0334126	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.	http://purl.obolibrary.org/obo/HP_0040138		Histiocytosis, mucinous
OBO:HP_0040139	Lipogranulomatosis	biolink:OntologyClass	hp	SNOMEDCT_US:189099001|SNOMEDCT_US:36279001|SNOMEDCT_US:416439000|UMLS:C1704214	Yellow nodules of lipoid material are deposited in the skin and mucosae. This gives rise to granulomatous reactions.	http://purl.obolibrary.org/obo/HP_0040139		
OBO:HP_0040140	Degeneration of the striatum	biolink:OntologyClass	hp	UMLS:C4022417		http://purl.obolibrary.org/obo/HP_0040140		
OBO:HP_0040141	Tardive dyskinesia	biolink:OntologyClass	hp	MSH:D000071057|UMLS:C0686347		http://purl.obolibrary.org/obo/HP_0040141		
OBO:HP_0040142	Reduced 5-oxoprolinase level	biolink:OntologyClass	hp	MSH:C535322|SNOMEDCT_US:26132002|UMLS:C0268525	Decreased level of the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate.	http://purl.obolibrary.org/obo/HP_0040142		5-oxoprolinase deficiency
OBO:HP_0040143	Dystopic os odontoideum	biolink:OntologyClass	hp	UMLS:C3552843	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	http://purl.obolibrary.org/obo/HP_0040143		
OBO:HP_0040144	L-2-hydroxyglutaric aciduria	biolink:OntologyClass	hp	SNOMEDCT_US:237961001|UMLS:C1855995	An increase in the level of L-2-hydroxyglutaric acid in the urine.	http://purl.obolibrary.org/obo/HP_0040144		
OBO:HP_0040145	Dicarboxylic acidemia	biolink:OntologyClass	hp	UMLS:C4022416		http://purl.obolibrary.org/obo/HP_0040145		
OBO:HP_0040146	D-2-hydroxyglutaric acidemia	biolink:OntologyClass	hp	UMLS:C4022415		http://purl.obolibrary.org/obo/HP_0040146		
OBO:HP_0040147	L-2-hydroxyglutaric acidemia	biolink:OntologyClass	hp	UMLS:C3888081		http://purl.obolibrary.org/obo/HP_0040147		
OBO:HP_0040148	Cortical myoclonus	biolink:OntologyClass	hp	SNOMEDCT_US:698835006|UMLS:C3698239	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).	http://purl.obolibrary.org/obo/HP_0040148		
OBO:HP_0040149	Woolly scalp hair	biolink:OntologyClass	hp	UMLS:C4015203|UMLS:C4280291|UMLS:C4280292|UMLS:C4280293	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.	http://purl.obolibrary.org/obo/HP_0040149		Nappy scalp hair texture|Afro-textured scalp hair|Kinky scalp hair texture|Wooly scalp hair
OBO:HP_0040150	Epiblepharon of upper lid	biolink:OntologyClass	hp	MSH:C565051|UMLS:C1851582		http://purl.obolibrary.org/obo/HP_0040150		
OBO:HP_0040151	Epiblepharon of lower lid	biolink:OntologyClass	hp	MSH:C565051|UMLS:C1851583		http://purl.obolibrary.org/obo/HP_0040151		
OBO:HP_0040154	Acne inversa	biolink:OntologyClass	hp	MSH:D017497|SNOMEDCT_US:59393003|UMLS:C0162836	A chronic skin condition involving the inflammation of the apocrine sweat glands, forming pimple-like bumps known as abscesses.	http://purl.obolibrary.org/obo/HP_0040154		Hidradenitis suppurativa|Pyoderma fistulans significa|Smoker's boils|Verneuil's disease
OBO:HP_0040155	Elevated urinary 3-hydroxybutyric acid	biolink:OntologyClass	hp	UMLS:C4022414	An increased amount of 3-hydroxybutyric acid in the urine.	http://purl.obolibrary.org/obo/HP_0040155		
OBO:HP_0040156	Elevated urinary carboxylic acid	biolink:OntologyClass	hp	UMLS:C4022413	An increased amount of carboxylic acid in the urine.	http://purl.obolibrary.org/obo/HP_0040156		
OBO:HP_0040157	Abnormal intermamillary distance	biolink:OntologyClass	hp	UMLS:C4022412		http://purl.obolibrary.org/obo/HP_0040157		
OBO:HP_0040158	Short intermamillary distance	biolink:OntologyClass	hp	UMLS:C4022411		http://purl.obolibrary.org/obo/HP_0040158		
OBO:HP_0040159	Abnormal spaced incisors	biolink:OntologyClass	hp	UMLS:C4022410		http://purl.obolibrary.org/obo/HP_0040159		Abnormal spaced incisors|Abnormality of spacing of front teeth|Abnormality of spacing of incisors
OBO:HP_0040160	Generalized osteoporosis	biolink:OntologyClass	hp	MSH:D010024|SNOMEDCT_US:64859006|UMLS:C0029456|UMLS:C3805887		http://purl.obolibrary.org/obo/HP_0040160		Generalised osteoporosis|Generalized osteoporosis with pathologic fractures
OBO:HP_0040161	Localized osteoporosis	biolink:OntologyClass	hp	UMLS:C1398367		http://purl.obolibrary.org/obo/HP_0040161		Localised osteoporosis
OBO:HP_0040162	Orthokeratosis	biolink:OntologyClass	hp	SNOMEDCT_US:708474007|UMLS:C1843359	Formation of an anuclear keratin layer	http://purl.obolibrary.org/obo/HP_0040162		
OBO:HP_0040163	Abnormal pelvis bone morphology	biolink:OntologyClass	hp	UMLS:C4073132		http://purl.obolibrary.org/obo/HP_0040163		Abnormal shape of pelvis bone
OBO:HP_0040164	Lipomas of eyelids	biolink:OntologyClass	hp	UMLS:C4073133	Fatty tumors on the eyelids.	http://purl.obolibrary.org/obo/HP_0040164		Fatty tumors on the eyelids.
OBO:HP_0040165	Periostitis	biolink:OntologyClass	hp	MSH:D010522|SNOMEDCT_US:41910004|UMLS:C0031111	Inflammation of the periosteum	http://purl.obolibrary.org/obo/HP_0040165		Periostalgia
OBO:HP_0040166	Abnormality of the periosteum	biolink:OntologyClass	hp	UMLS:C4073134		http://purl.obolibrary.org/obo/HP_0040166		
OBO:HP_0040167	Facial papilloma	biolink:OntologyClass	hp	SNOMEDCT_US:240533004|UMLS:C0343643		http://purl.obolibrary.org/obo/HP_0040167		Facial wart|Facial verruca
OBO:HP_0040168	obsolete Focal seizures, afebril	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0040168		
OBO:HP_0040169	Loose anagen hair	biolink:OntologyClass	hp	UMLS:C3554793		http://purl.obolibrary.org/obo/HP_0040169		
OBO:HP_0040170	Abnormality of hair growth	biolink:OntologyClass	hp	UMLS:C4073136		http://purl.obolibrary.org/obo/HP_0040170		
OBO:HP_0040171	Decreased serum testosterone level	biolink:OntologyClass	hp	SNOMEDCT_US:131078003|UMLS:C1295654|UMLS:C4073137		http://purl.obolibrary.org/obo/HP_0040171		Decreased testosterone|Decreased serum testosterone level|Decreased serum testosterone levels|Low serum testosterone level|Low serum testosterone levels
OBO:HP_0040172	Abnormality of occipitofrontalis muscle	biolink:OntologyClass	hp	UMLS:C4073138		http://purl.obolibrary.org/obo/HP_0040172		
OBO:HP_0040173	Abnormality of the tongue muscle	biolink:OntologyClass	hp	UMLS:C4073139		http://purl.obolibrary.org/obo/HP_0040173		Abnormality of the tongue muscle|Abnormality of lingual muscle
OBO:HP_0040174	Abnormality of extrinsic muscle of tongue	biolink:OntologyClass	hp	UMLS:C4073140		http://purl.obolibrary.org/obo/HP_0040174		Abnormality of extrinsic lingual muscle
OBO:HP_0040175	Platelet-activating factor acetylhydrolase deficiency	biolink:OntologyClass	hp	MSH:C566640|UMLS:C3280315	Reduced level of platelet-activating factor acetylhydrolase.	http://purl.obolibrary.org/obo/HP_0040175		
OBO:HP_0040176	Abnormal circulating phospholipid concentration	biolink:OntologyClass	hp	UMLS:C4073141	Any deviation from the normal concentration of a phospholipid in the blood circulation.	http://purl.obolibrary.org/obo/HP_0040176		Abnormal level of phospholipids
OBO:HP_0040177	Abnormal level of platelet-activating factor	biolink:OntologyClass	hp	UMLS:C4073142		http://purl.obolibrary.org/obo/HP_0040177		Abnormal level of PAF
OBO:HP_0040178	Increased level of platelet-activating factor	biolink:OntologyClass	hp	UMLS:C4073143		http://purl.obolibrary.org/obo/HP_0040178		Increased level of PAF
OBO:HP_0040179	Decreased level of platelet-activating factor	biolink:OntologyClass	hp	UMLS:C4073144		http://purl.obolibrary.org/obo/HP_0040179		Decreased level of PAF
OBO:HP_0040180	obsolete Hyperkeratosis pilaris	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0040180		
OBO:HP_0040181	Chapped lip	biolink:OntologyClass	hp	MSH:D019557|SNOMEDCT_US:16459000|SNOMEDCT_US:238751002|SNOMEDCT_US:248182008|SNOMEDCT_US:402294001|UMLS:C0263449|UMLS:C0424489	Cracking, fissuring, and peeling of the skin of the lips.	http://purl.obolibrary.org/obo/HP_0040181		Chapped lip|Chapped lips|Dry lips|Cheilitis simplex|Common cheilitis|Perioral dermatitis
OBO:HP_0040182	Inappropriate sinus tachycardia	biolink:OntologyClass	hp	SNOMEDCT_US:425582007|UMLS:C1881170	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.	http://purl.obolibrary.org/obo/HP_0040182		
OBO:HP_0040183	Encopresis	biolink:OntologyClass	hp	SNOMEDCT_US:302690004|UMLS:C2945606		http://purl.obolibrary.org/obo/HP_0040183		Stool holding|Stool soiling
OBO:HP_0040184	Oral bleeding	biolink:OntologyClass	hp	MSH:D006472|SNOMEDCT_US:22490002|UMLS:C0029163		http://purl.obolibrary.org/obo/HP_0040184		Oral bleeding|Oral hemorrhage
OBO:HP_0040185	Macrothrombocytopenia	biolink:OntologyClass	hp	UMLS:C2751260		http://purl.obolibrary.org/obo/HP_0040185		Macrothrombozytopenia
OBO:HP_0040186	Maculopapular exanthema	biolink:OntologyClass	hp	SNOMEDCT_US:247471006|SNOMEDCT_US:47725002|UMLS:C0423791	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.	http://purl.obolibrary.org/obo/HP_0040186		
OBO:HP_0040187	Neonatal sepsis	biolink:OntologyClass	hp	MSH:D000071074|SNOMEDCT_US:206376005|UMLS:C0456103	Systemic inflammatory response to infection in newborn babies.	http://purl.obolibrary.org/obo/HP_0040187		
OBO:HP_0040188	Osteochondrosis	biolink:OntologyClass	hp	MSH:D055034|SNOMEDCT_US:19579005|UMLS:C0029429	Abnormal growth ossification centers in children. Initially a degeneration/ necrosis followed by regeneration or recalcification.	http://purl.obolibrary.org/obo/HP_0040188		
OBO:HP_0040189	Scaling skin	biolink:OntologyClass	hp	SNOMEDCT_US:14411002|SNOMEDCT_US:271767006|UMLS:C0237849	Refers to the loss of the outer layer of the epidermis in large, scale-like flakes.	http://purl.obolibrary.org/obo/HP_0040189		Scaling skin|flaking skin|peeling skin|scaly skin|Desquamation
OBO:HP_0040190	White scaling skin	biolink:OntologyClass	hp	UMLS:C4073146		http://purl.obolibrary.org/obo/HP_0040190		White scaling skin|White scaly skin
OBO:HP_0040191	Rectus femoris muscle atrophy	biolink:OntologyClass	hp	UMLS:C2083352		http://purl.obolibrary.org/obo/HP_0040191		Atrophy of the rectus femoris muscles
OBO:HP_0040192	APUdoma	biolink:OntologyClass	hp	MSH:D001079|SNOMEDCT_US:253008000|SNOMEDCT_US:74926005|UMLS:C0003650	An endocrine tumor arising from an APUD cell.	http://purl.obolibrary.org/obo/HP_0040192		amine precursor uptake and decarboxylation tumours
OBO:HP_0040193	obsolete Pinealoblastoma	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0040193		
OBO:HP_0040194	Increased head circumference	biolink:OntologyClass	hp	UMLS:C4083076	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.	http://purl.obolibrary.org/obo/HP_0040194		Increased head circumference
OBO:HP_0040195	Decreased head circumference	biolink:OntologyClass	hp	SNOMEDCT_US:271611007|UMLS:C0424688	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.	http://purl.obolibrary.org/obo/HP_0040195		Decreased head circumference
OBO:HP_0040196	Mild microcephaly	biolink:OntologyClass	hp	UMLS:C1836806	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).	http://purl.obolibrary.org/obo/HP_0040196		
OBO:HP_0040197	Encephalomalacia	biolink:OntologyClass	hp	MSH:D004678|SNOMEDCT_US:58762006|UMLS:C0014068	Encephalomalacia is the softening or loss of brain tissue after cerebral infarction, cerebral ischemia, infection, craniocerebral trauma, or other injury.	http://purl.obolibrary.org/obo/HP_0040197		Cerebral softening
OBO:HP_0040198	Non-medullary thyroid carcinoma	biolink:OntologyClass	hp	MSH:C536915|UMLS:C3501843		http://purl.obolibrary.org/obo/HP_0040198		Nonmedullary thyroid carcinoma|Thyroid cancer, nonmedullary
OBO:HP_0040199	obsolete Flat midface	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0040199		
OBO:HP_0040200	Motor impersistence	biolink:OntologyClass	hp	UMLS:C4073148	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.	http://purl.obolibrary.org/obo/HP_0040200		Negative chorea
OBO:HP_0040201	Simultanapraxia	biolink:OntologyClass	hp	UMLS:C4073149	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.	http://purl.obolibrary.org/obo/HP_0040201		
OBO:HP_0040202	Abnormal consumption behavior	biolink:OntologyClass	hp	UMLS:C4073150		http://purl.obolibrary.org/obo/HP_0040202		Abnormal consumption behaviour
OBO:HP_0040203	Abnormal CSF neopterin level	biolink:OntologyClass	hp	UMLS:C4073151	Abnormal concentration of neopterin in the cerebrospinal fluid (CSF).	http://purl.obolibrary.org/obo/HP_0040203		
OBO:HP_0040204	Elevated CSF neopterin level	biolink:OntologyClass	hp	UMLS:C4073152	Increased concentration of neopterin in the cerebrospinal fluid (CSF).	http://purl.obolibrary.org/obo/HP_0040204		
OBO:HP_0040205	Decreased CSF neopterin level	biolink:OntologyClass	hp	UMLS:C4073153	Decreased concentration of neopterin in the cerebrospinal fluid (CSF).	http://purl.obolibrary.org/obo/HP_0040205		
OBO:HP_0040206	Abnormal circulating neopterin concentration	biolink:OntologyClass	hp	UMLS:C4073154	Any deviation from the normal concentration of neopterin in the blood circulation.	http://purl.obolibrary.org/obo/HP_0040206		
OBO:HP_0040207	Abnormal CSF biopterin level	biolink:OntologyClass	hp	UMLS:C4073155	Abnormal concentration of biopterin in the cerebrospinal fluid (CSF).	http://purl.obolibrary.org/obo/HP_0040207		Abnormal cerebrospinal fluid biopterin level
OBO:HP_0040208	Elevated CSF biopterin level	biolink:OntologyClass	hp	UMLS:C4073156	Increased concentration of biopterin in the cerebrospinal fluid (CSF).	http://purl.obolibrary.org/obo/HP_0040208		
OBO:HP_0040209	Decreased CSF biopterin level	biolink:OntologyClass	hp	UMLS:C4073157	Decreased concentration of biopterin in the cerebrospinal fluid (CSF).	http://purl.obolibrary.org/obo/HP_0040209		Low CSF BH4 (tetrahydrobiopterin)
OBO:HP_0040210	Abnormal circulating biopterin concentration	biolink:OntologyClass	hp	UMLS:C4073158	A deviation from the normal concentration of biopterin in the blood circulation.	http://purl.obolibrary.org/obo/HP_0040210		
OBO:HP_0040211	Abnormal skin morphology of the palm	biolink:OntologyClass	hp	UMLS:C4073159	An abnormality of the skin of the palm, that is, the skin of the front of the hand.	http://purl.obolibrary.org/obo/HP_0040211		
OBO:HP_0040212	Risus sardonicus	biolink:OntologyClass	hp	SNOMEDCT_US:64314006|UMLS:C0343494	Fixed sarcastic grimace and anxious expression. Caused by spasms of the masseter and other facial muscles.	http://purl.obolibrary.org/obo/HP_0040212		Rictus grin
OBO:HP_0040213	Hypopnea	biolink:OntologyClass	hp	SNOMEDCT_US:386614005|UMLS:C0235546	Hypopnea is referring to breathing that is abnormally shallow.	http://purl.obolibrary.org/obo/HP_0040213		
OBO:HP_0040214	Abnormal insulin level	biolink:OntologyClass	hp	UMLS:C4073160	An abnormal concentration of insulin in the body.	http://purl.obolibrary.org/obo/HP_0040214		
OBO:HP_0040215	Abnormal circulating insulin level	biolink:OntologyClass	hp	UMLS:C4073161	An abnormal concentration of insulin in the blood.	http://purl.obolibrary.org/obo/HP_0040215		
OBO:HP_0040216	Hypoinsulinemia	biolink:OntologyClass	hp	UMLS:C2748055	A decreased concentration of insulin in the blood.	http://purl.obolibrary.org/obo/HP_0040216		
OBO:HP_0040217	Elevated hemoglobin A1c	biolink:OntologyClass	hp	UMLS:C4073162	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.	http://purl.obolibrary.org/obo/HP_0040217		Elevated HbA1c|Increased HbA1c levels|Elevated haemoglobin A1c|Elevated glycated hemoglobin|Elevated glycosylated hemoglobin
OBO:HP_0040218	Reduced natural killer cell count	biolink:OntologyClass	hp	UMLS:C1855767	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.	http://purl.obolibrary.org/obo/HP_0040218		Reduced NK cell number|Reduced natural killer cell number
OBO:HP_0040219	Absent natural killer cells	biolink:OntologyClass	hp	UMLS:C4073163	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.	http://purl.obolibrary.org/obo/HP_0040219		Absent NK cells
OBO:HP_0040220	Abnormal size of the dental root	biolink:OntologyClass	hp	UMLS:C4280723		http://purl.obolibrary.org/obo/HP_0040220		
OBO:HP_0040221	Hypoplasia of the dental root	biolink:OntologyClass	hp	UMLS:C4280722		http://purl.obolibrary.org/obo/HP_0040221		
OBO:HP_0040222	Maternal thrombophilia	biolink:OntologyClass	hp	UMLS:C4280721	An increased tendency towards thrombosis in the mother during a pregnancy.	http://purl.obolibrary.org/obo/HP_0040222		
OBO:HP_0040223	Pulmonary hemorrhage	biolink:OntologyClass	hp	UMLS:C4280720	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.	http://purl.obolibrary.org/obo/HP_0040223		Pulmonary haemorrhage|Intrapulmonary hemorrhage
OBO:HP_0040224	Abnormality of fibrinolysis	biolink:OntologyClass	hp	UMLS:C4280719	Clincial phenotype characterized by delayed bleeding accelerated break down of blood clot (fibrinolysis)	http://purl.obolibrary.org/obo/HP_0040224		Abnormality of the fibrinolytic system
OBO:HP_0040225	Decrease in high molecular weight von Willebrand factor Multimers	biolink:OntologyClass	hp	UMLS:C4280718	A decrease in high molecular weight von Willebrand factor multimers.	http://purl.obolibrary.org/obo/HP_0040225		Decrease in HMW VWF multimers
OBO:HP_0040226	Decreased level of heparin co-factor II	biolink:OntologyClass	hp	UMLS:C4280717	An abnormality of coagulation related to a decreased concentration of heparin co-factor II	http://purl.obolibrary.org/obo/HP_0040226		Heparin co-factor II deficiency
OBO:HP_0040227	Decreased level of histidine-rich glycoprotein	biolink:OntologyClass	hp	UMLS:C4280716	Decrease of these levels result in increased inhibition of fibrinolysis and reduced inhibition of coagulation	http://purl.obolibrary.org/obo/HP_0040227		
OBO:HP_0040228	Decreased level of plasminogen	biolink:OntologyClass	hp	UMLS:C4280715	A decreased level of Plasminogen	http://purl.obolibrary.org/obo/HP_0040228		Hypoplasminogenemia
OBO:HP_0040229	Decreased level of thrombomodulin	biolink:OntologyClass	hp	UMLS:C4255334	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	http://purl.obolibrary.org/obo/HP_0040229		BDCA-3
OBO:HP_0040230	Decreased level of tissue plasminogen activator	biolink:OntologyClass	hp	UMLS:C4280714	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	http://purl.obolibrary.org/obo/HP_0040230		Decreased level of tPA
OBO:HP_0040231	Abnormal onset of bleeding	biolink:OntologyClass	hp	UMLS:C4280713		http://purl.obolibrary.org/obo/HP_0040231		
OBO:HP_0040232	Delayed onset bleeding	biolink:OntologyClass	hp	UMLS:C4280712	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.	http://purl.obolibrary.org/obo/HP_0040232		
OBO:HP_0040233	Factor XIII subunit A deficiency	biolink:OntologyClass	hp	MSH:C567691|UMLS:C2750514	Deficiency of factor XIII subunit A, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot.	http://purl.obolibrary.org/obo/HP_0040233		Reduced factor XIII, subunit A
OBO:HP_0040234	Factor XIII subunit B deficiency	biolink:OntologyClass	hp	MSH:C567688|UMLS:C2750481	Deficiency of factor XIII subunit B, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot.	http://purl.obolibrary.org/obo/HP_0040234		Reduced factor XIII, subunit B
OBO:HP_0040235	Leukocyte inclusion bodies	biolink:OntologyClass	hp	UMLS:C4280711	The presence of intraceullar inclusion bodies (aggregates of stainable substances, usually proteins) in leukocytes.	http://purl.obolibrary.org/obo/HP_0040235		Dohle-like leukocyte inclusion bodies|Inclusion bodies in leukocytes
OBO:HP_0040236	Hyperfibrinolysis	biolink:OntologyClass	hp	UMLS:C3805089	Increased degradation of fibrin, associated with clot instability and bleeding	http://purl.obolibrary.org/obo/HP_0040236		
OBO:HP_0040237	Impaired binding of factor VIII to VWF	biolink:OntologyClass	hp	UMLS:C4280710	Impaired binding of factor VIII to von Willebrand Factor. This is determined using a modified ELISA assay.	http://purl.obolibrary.org/obo/HP_0040237		von Willebrand Disease Type II Normandy
OBO:HP_0040238	Impaired neutrophil chemotaxis	biolink:OntologyClass	hp	UMLS:C4280709	An impairment of the migration of neutrophils towards chemoattractants as part of the innate immune response	http://purl.obolibrary.org/obo/HP_0040238		Neutrophil migratory defect
OBO:HP_0040239	Increased plasma vitamin K epoxide after vitamin K supplementation	biolink:OntologyClass	hp	UMLS:C4280708	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.	http://purl.obolibrary.org/obo/HP_0040239		
OBO:HP_0040240	Increased ratio of VWF propeptide to VWF antigen	biolink:OntologyClass	hp	UMLS:C4280707	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.	http://purl.obolibrary.org/obo/HP_0040240		
OBO:HP_0040241	Increased RIPA	biolink:OntologyClass	hp	UMLS:C4280706	Increased platelet agglutination in response to low-dose ristocetin	http://purl.obolibrary.org/obo/HP_0040241		
OBO:HP_0040242	Muscle hemorrhage	biolink:OntologyClass	hp	SNOMEDCT_US:95422003|UMLS:C0151702	Bleeding occuring within a muscle	http://purl.obolibrary.org/obo/HP_0040242		Muscle haemorrhage
OBO:HP_0040243	Prolonged euglobulin clot lysis time	biolink:OntologyClass	hp	UMLS:C4280705	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.	http://purl.obolibrary.org/obo/HP_0040243		
OBO:HP_0040244	Prolonged Russell's viper venom time	biolink:OntologyClass	hp	UMLS:C4280704	Increased time to coagulation in the Russell's viper venom assay	http://purl.obolibrary.org/obo/HP_0040244		
OBO:HP_0040245	Reduced alpha-2-antiplasmin activity	biolink:OntologyClass	hp	UMLS:C4280703	Reduced activity of alpha-2-antiplasmin. This protein inactivates the protease plasmin that drives fibrinolysis.	http://purl.obolibrary.org/obo/HP_0040245		
OBO:HP_0040246	Reduced antithrombin antigen	biolink:OntologyClass	hp	UMLS:C4280702	Reduced antithrombin antigen. A reduced level of antithrombin may lead to an increased risk of thrombus formation.	http://purl.obolibrary.org/obo/HP_0040246		
OBO:HP_0040247	Reduced euglobulin clot lysis time	biolink:OntologyClass	hp	UMLS:C4280701	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.	http://purl.obolibrary.org/obo/HP_0040247		
OBO:HP_0040248	Reduced plasminogen activator inhibitor 1 activity	biolink:OntologyClass	hp	UMLS:C4280700	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.	http://purl.obolibrary.org/obo/HP_0040248		
OBO:HP_0040249	Reduced plasminogen activator inhibitor 1 antigen	biolink:OntologyClass	hp	UMLS:C4280699	Reduced level of plasminogen activator inhibitor 1 antigen.	http://purl.obolibrary.org/obo/HP_0040249		
OBO:HP_0040250	Reduced prothrombin antigen	biolink:OntologyClass	hp	UMLS:C4280698	Reduced prothrombin antigen as measured by ELISA assay. Prothrombin is a vitamin K-dependent coagulation factor that is proteolytically cleaved to form thrombin.	http://purl.obolibrary.org/obo/HP_0040250		
OBO:HP_0040251	Hand dimple	biolink:OntologyClass	hp	UMLS:C4280697	A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the hand.	http://purl.obolibrary.org/obo/HP_0040251		Hand dimples
OBO:HP_0040252	Abnormal size of the clitoris	biolink:OntologyClass	hp	UMLS:C4280696		http://purl.obolibrary.org/obo/HP_0040252		
OBO:HP_0040253	Increased size of the clitoris	biolink:OntologyClass	hp	UMLS:C4280695		http://purl.obolibrary.org/obo/HP_0040253		
OBO:HP_0040254	Decreased size of the clitoris	biolink:OntologyClass	hp	UMLS:C4280694		http://purl.obolibrary.org/obo/HP_0040254		
OBO:HP_0040255	Aplasia/Hypoplasia of the clitoris	biolink:OntologyClass	hp	UMLS:C4280693		http://purl.obolibrary.org/obo/HP_0040255		
OBO:HP_0040256	Aplastic/Hypoplastic nasopharyngeal adenoids	biolink:OntologyClass	hp	UMLS:C4280290	Absence or underdevelopment of the nasopharyngeal adenoids.	http://purl.obolibrary.org/obo/HP_0040256		Adenoids small or absent
OBO:HP_0040257	Abnormal size of nasopharyngeal adenoids	biolink:OntologyClass	hp	UMLS:C4280692	A deviation in the size of nasopharyngeal adenoids.	http://purl.obolibrary.org/obo/HP_0040257		
OBO:HP_0040258	Hypoplastic nasopharyngeal adenoids	biolink:OntologyClass	hp	UMLS:C4280691	Underdevelopment of the nasopharyngeal adenoids.	http://purl.obolibrary.org/obo/HP_0040258		Underdeveloped nasopharyngeal adenoids
OBO:HP_0040259	Aplastic nasopharyngeal adenoids	biolink:OntologyClass	hp	UMLS:C4280690	Absence of the nasopharyngeal adenoids as a developmental defect.	http://purl.obolibrary.org/obo/HP_0040259		
OBO:HP_0040260	Decreased size of nasopharyngeal adenoids	biolink:OntologyClass	hp	UMLS:C4280689	An abnormal decrease in the size of nasopharyngeal adenoids.	http://purl.obolibrary.org/obo/HP_0040260		
OBO:HP_0040261	Increased size of nasopharyngeal adenoids	biolink:OntologyClass	hp	SNOMEDCT_US:111591002|SNOMEDCT_US:276442006|UMLS:C0149825|UMLS:C0455938	An abnormal increase in the size of nasopharyngeal adenoids.	http://purl.obolibrary.org/obo/HP_0040261		Adenoid hypertrophy|Adenoids large
OBO:HP_0040262	Glue ear	biolink:OntologyClass	hp	MSH:D010034|SNOMEDCT_US:78868004|UMLS:C0029883	Middle ear is filled with glue-like fluid instead of air.	http://purl.obolibrary.org/obo/HP_0040262		
OBO:HP_0040263	Jaw ankylosis	biolink:OntologyClass	hp	SNOMEDCT_US:285466001|UMLS:C0563350|UMLS:C4280688		http://purl.obolibrary.org/obo/HP_0040263		Difficulty opening mouth
OBO:HP_0040264	Jaw pain	biolink:OntologyClass	hp	SNOMEDCT_US:274667000|UMLS:C0236000	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the jaw.	http://purl.obolibrary.org/obo/HP_0040264		Jaw pain
OBO:HP_0040265	Upper limb muscle hypertrophy	biolink:OntologyClass	hp	UMLS:C4280687		http://purl.obolibrary.org/obo/HP_0040265		
OBO:HP_0040266	Proximal upper limb muscle hypertrophy	biolink:OntologyClass	hp	UMLS:C4280686		http://purl.obolibrary.org/obo/HP_0040266		
OBO:HP_0040267	Distal upper limb muscle hypertrophy	biolink:OntologyClass	hp	UMLS:C4280685		http://purl.obolibrary.org/obo/HP_0040267		
OBO:HP_0040268	Recurrent infections of the middle ear	biolink:OntologyClass	hp	UMLS:C0747085	Increased susceptibility to middle ear infections, as manifested by recurrent episodes of middle ear infections	http://purl.obolibrary.org/obo/HP_0040268		
OBO:HP_0040269	Blocked Eustachian tube	biolink:OntologyClass	hp	SNOMEDCT_US:48145001|UMLS:C0149508		http://purl.obolibrary.org/obo/HP_0040269		Obstruction of Eustachian tube
OBO:HP_0040270	Impaired glucose tolerance	biolink:OntologyClass	hp	MP:0005291|UMLS:C0151671	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.	http://purl.obolibrary.org/obo/HP_0040270		Decreased glucose tolerance|Glucose tolerance decreased
OBO:HP_0040272	Hyperintensity of MRI T2 signal of the spinal cord	biolink:OntologyClass	hp	UMLS:C4280684	A region of high intensity (brightness) observed upon magnetic resonance imaging (MRI) scans of the spinal cord.	http://purl.obolibrary.org/obo/HP_0040272		
OBO:HP_0040273	Adenocarcinoma of the intestines	biolink:OntologyClass	hp	NCIT:C2852|UMLS:C4280683	A malignant epithelial tumor with a glandular organization that originates in the intestines.	http://purl.obolibrary.org/obo/HP_0040273		
OBO:HP_0040274	Adenocarcinoma of the small intestine	biolink:OntologyClass	hp	NCIT:C2852|SNOMEDCT_US:424440001|UMLS:C0278803	A malignant epithelial tumor with a glandular organization that originates in the small intestine.	http://purl.obolibrary.org/obo/HP_0040274		
OBO:HP_0040275	Adenocarcinoma of the large intestine	biolink:OntologyClass	hp	NCIT:C2852|SNOMEDCT_US:408645001|UMLS:C1319315	A malignant epithelial tumor with a glandular organization that originates in the large intestine.	http://purl.obolibrary.org/obo/HP_0040275		
OBO:HP_0040276	Adenocarcinoma of the colon	biolink:OntologyClass	hp	NCIT:C2852|UMLS:C0338106		http://purl.obolibrary.org/obo/HP_0040276		
OBO:HP_0040277	Neoplasm of the pituitary gland	biolink:OntologyClass	hp	NCIT:C3262		http://purl.obolibrary.org/obo/HP_0040277		
OBO:HP_0040278	Prolactinoma	biolink:OntologyClass	hp		A benign tumor (adenoma) of the pituitary gland	http://purl.obolibrary.org/obo/HP_0040278		
OBO:HP_0040279	Frequency	biolink:OntologyClass	hp		Class to represent frequency of phenotypic abnormalities within a patient cohort.	http://purl.obolibrary.org/obo/HP_0040279		
OBO:HP_0040280	Obligate	biolink:OntologyClass	hp	ORPHA:453310	Always present, i.e. in 100% of the cases.	http://purl.obolibrary.org/obo/HP_0040280		Obligate (100%)
OBO:HP_0040281	Very frequent	biolink:OntologyClass	hp	ORPHA:453311	Present in 80% to 99% of the cases.	http://purl.obolibrary.org/obo/HP_0040281		Very frequent (99-80%)
OBO:HP_0040282	Frequent	biolink:OntologyClass	hp	ORPHA:453312	Present in 30% to 79% of the cases.	http://purl.obolibrary.org/obo/HP_0040282		Frequent (79-30%)
OBO:HP_0040283	Occasional	biolink:OntologyClass	hp	ORPHA:453313	Present in 5% to 29% of the cases.	http://purl.obolibrary.org/obo/HP_0040283		Occasional (29-5%)
OBO:HP_0040284	Very rare	biolink:OntologyClass	hp	ORPHA:453314	Present in 1% to 4% of the cases.	http://purl.obolibrary.org/obo/HP_0040284		Very rare (&lt;4-1%)|Very rare (<4-1%)
OBO:HP_0040285	Excluded	biolink:OntologyClass	hp	ORPHA:453315	Present in 0% of the cases.	http://purl.obolibrary.org/obo/HP_0040285		Excluded (0%)
OBO:HP_0040286	Abnormal axial muscle morphology	biolink:OntologyClass	hp		A structural anomaly of the muscles of the trunk and head.	http://purl.obolibrary.org/obo/HP_0040286		Abnormality of axial muscles
OBO:HP_0040287	Axial muscle atrophy	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0040287		
OBO:HP_0040288	Nasogastric tube feeding	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0040288		
OBO:HP_0040289	Cyclic neutropenia	biolink:OntologyClass	hp		Recurrent episodes of abnormally low levels of neutrophils in the body (neutropenia).	http://purl.obolibrary.org/obo/HP_0040289		CyN
OBO:HP_0040290	obsolete Abnormality of skeletal muscles	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0040290		
OBO:HP_0040291	Skeletal muscle steatosis	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0040291		Steatosis of skeletal muscle|Steatosis of skeletal muscles
OBO:HP_0040292	Left hemiplegia	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0040292		Hemiplegia (left)
OBO:HP_0040293	Right hemiplegia	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0040293		Hemiplegia (right)
OBO:HP_0040294	Duplicated tongue	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0040294		Duplication of tongue|Tongue duplicated|Tongue duplication
OBO:HP_0040295	Duplication of the upper lip	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0040295		Double upper lip
OBO:HP_0040296	Abnormal location of the eyebrow	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0040296		Abnormal location of eyebrows|Abnormally placed eyebrows
OBO:HP_0040297	Preauricular cyst	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0040297		
OBO:HP_0040298	Hyperplasia of the endometrium	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0040298		Hyperplastic endometrium
OBO:HP_0040299	Decreased circulating free fatty acid level	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0040299		Low fatty acids level
OBO:HP_0040300	Abnormal circulating free fatty acid concentration	biolink:OntologyClass	hp		Any deviation from the normal concentration of a free fatty acid in the blood circulation.	http://purl.obolibrary.org/obo/HP_0040300		Abnormal circulating free fatty acid level
OBO:HP_0040301	Increased urinary glycerol	biolink:OntologyClass	hp		An increased concentration of glycerol in the urine.	http://purl.obolibrary.org/obo/HP_0040301		
OBO:HP_0040302	Hyperglycerolemia	biolink:OntologyClass	hp		Increased concentration of glycerol in the blood.	http://purl.obolibrary.org/obo/HP_0040302		Pseudohypertriglyceridemia
OBO:HP_0040303	Decreased serum iron	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0040303		Low serum iron
OBO:HP_0040304	Duplication of the sella turcica	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0040304		Duplicate sella turcica|Duplicated sella turcica
OBO:HP_0040305	Increased male libido	biolink:OntologyClass	hp		Increased desire for sexual activity on the part of a male.	http://purl.obolibrary.org/obo/HP_0040305		
OBO:HP_0040306	Decreased male libido	biolink:OntologyClass	hp		Reduced desire for sexual activity on the part of a male.	http://purl.obolibrary.org/obo/HP_0040306		
OBO:HP_0040307	Male sexual dysfunction	biolink:OntologyClass	hp		A problem occurring during any phase of the male sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity	http://purl.obolibrary.org/obo/HP_0040307		
OBO:HP_0040308	Male anorgasmia	biolink:OntologyClass	hp		Inability of a male to reach orgasm.	http://purl.obolibrary.org/obo/HP_0040308		
OBO:HP_0040309	Increased size of the mandible	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0040309		Large jaw
OBO:HP_0040310	Sterile arthritis	biolink:OntologyClass	hp		An inflammatory arthritis characterized by purulent synovial fluid with neutrophil accumulation, but with negative cultures.	http://purl.obolibrary.org/obo/HP_0040310		
OBO:HP_0040311	Symmetric polyarthritis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0040311		
OBO:HP_0040312	Temporomandibular arthritis	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0040312		Arthritis of temporomandibular joint
OBO:HP_0040313	Oligoarthritis	biolink:OntologyClass	hp		A type of arthritis that affects up to four joints in the first six months of disease.	http://purl.obolibrary.org/obo/HP_0040313		
OBO:HP_0040314	Blind vagina	biolink:OntologyClass	hp		The vagina ends in a blind pouch or sac rather than being connected to the internal genitalia.	http://purl.obolibrary.org/obo/HP_0040314		Blind-ended vagina
OBO:HP_0040315	Tongue edema	biolink:OntologyClass	hp		An abnormal accumulation of fluid and swelling in the tongue.	http://purl.obolibrary.org/obo/HP_0040315		Tongue oedema
OBO:HP_0040316	obsolete Aplasia of the penis	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0040316		
OBO:HP_0040317	Blue urine	biolink:OntologyClass	hp		An abnormal blue color of the urine.	http://purl.obolibrary.org/obo/HP_0040317		
OBO:HP_0040318	Red urine	biolink:OntologyClass	hp		An abnormal red color of the urine.	http://purl.obolibrary.org/obo/HP_0040318		
OBO:HP_0040319	Dark urine	biolink:OntologyClass	hp		An abnormal dark color of the urine.	http://purl.obolibrary.org/obo/HP_0040319		
OBO:HP_0040320	Red-brown urine	biolink:OntologyClass	hp		An abnormal red-brown color of the urine.	http://purl.obolibrary.org/obo/HP_0040320		red brown urine
OBO:HP_0040321	Dark yellow urine	biolink:OntologyClass	hp		An abnormal dark-yellow color of the urine.	http://purl.obolibrary.org/obo/HP_0040321		
OBO:HP_0040322	Purple urine	biolink:OntologyClass	hp		An abnormal purple color of the urine.	http://purl.obolibrary.org/obo/HP_0040322		
OBO:HP_0040323	Erythema of the eyelids	biolink:OntologyClass	hp		Redness of the skin of the eyelids, caused by hyperemia of the capillaries in the lower layers of the skin.	http://purl.obolibrary.org/obo/HP_0040323		Erythema of eyelid|Eyelid erythema
OBO:HP_0040324	Heliotrope rash	biolink:OntologyClass	hp		In a heliotrope rash, the color of the skin turns to violet, which is the color of the heliotrope flower.	http://purl.obolibrary.org/obo/HP_0040324		Heliotrope erythema
OBO:HP_0040325	Bull's eye rash	biolink:OntologyClass	hp		A cutaneous eruption that consists of multiple (at least two) concentric erythematous rings.	http://purl.obolibrary.org/obo/HP_0040325		
OBO:HP_0040326	Hypoplasia of the olfactory bulb	biolink:OntologyClass	hp		Underdevelopment of the olfactory bulb.	http://purl.obolibrary.org/obo/HP_0040326		Hypoplasia of olfactory bulb|Hypoplastic olfactory bulb
OBO:HP_0040327	Abnormal morphology of the olfactory bulb	biolink:OntologyClass	hp		An abnormal morphology of the olfactory bulb (bulbus olfactorius), which is involved in olfaction, i.e. the sense of smell.	http://purl.obolibrary.org/obo/HP_0040327		
OBO:HP_0040328	Focal hyperintensity of cerebral white matter on MRI	biolink:OntologyClass	hp		An abnormal area of increased brightness (hyperintensity) that is limited to one particular area.	http://purl.obolibrary.org/obo/HP_0040328		
OBO:HP_0040329	Multifocal hyperintensity of cerebral white matter on MRI	biolink:OntologyClass	hp		An abnormal area of increased brightness (hyperintensity) that occurs in several distinct areas.	http://purl.obolibrary.org/obo/HP_0040329		
OBO:HP_0040330	Confluent hyperintensity of cerebral white matter on MRI	biolink:OntologyClass	hp		Areas of brighter than expected MRI signal in the white matter of the brain whereby individual patches run together.	http://purl.obolibrary.org/obo/HP_0040330		
OBO:HP_0040331	Focal hypointensity of cerebral white matter on MRI	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0040331		
OBO:HP_0040332	Multifocal hypointensity of cerebral white matter on MRI	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0040332		
OBO:HP_0040333	Confluent hypointensity of cerebral white matter on MRI	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0040333		
OBO:HP_0040334	Purulent rhinitis	biolink:OntologyClass	hp		Chronic rhinitis accompanied by pus formation.	http://purl.obolibrary.org/obo/HP_0040334		
OBO:HP_0041042	Absent neutrophil lactoferrin	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0041042		
OBO:HP_0041043	Neutrophil nuclear clefts	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0041043		
OBO:HP_0041044	Low neutrophil alkaline phosphatase	biolink:OntologyClass	hp		An abnormally reduced level of alkaline phosphatase in neutrophils, which could be due to absence of enzyme or the production of defective enzyme.	http://purl.obolibrary.org/obo/HP_0041044		
OBO:HP_0041045	Increased neutrophil mitochondria	biolink:OntologyClass	hp		An increased number of mitochondria detected in neutrophils.	http://purl.obolibrary.org/obo/HP_0041045		
OBO:HP_0041046	Increased neutrophil ribosomes	biolink:OntologyClass	hp		An increased number of ribosomes detected in neutrophils.	http://purl.obolibrary.org/obo/HP_0041046		
OBO:HP_0041047	Bladder outlet obstruction	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0041047		Obstruction of bladder outlet
OBO:HP_0041048	Decreased expression of GPI-anchored proteins on the cell surface	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0041048		
OBO:HP_0041049	Starch intolerance	biolink:OntologyClass	hp		An inability to digest starch.	http://purl.obolibrary.org/obo/HP_0041049		Starch intolerance|Amylose-amylopectin intolerance
OBO:HP_0041050	Renal tubular cyst	biolink:OntologyClass	hp		Tubular lumnal dilatation/prominence lined by simple layer of cuboidal-to-flat tublar epihelial cells.	http://purl.obolibrary.org/obo/HP_0041050		Renal tubule cyst
OBO:HP_0041051	Ageusia	biolink:OntologyClass	hp		A rare condition that is characterized by a complete loss of taste function of the tongue.	http://purl.obolibrary.org/obo/HP_0041051		Lost taste|Absent sense of taste|Impaired taste sensation
OBO:HP_0041052	Agenesis of putamen	biolink:OntologyClass	hp		A developmental defect characterized by the absence of the putamen owing to its failure to develop.	http://purl.obolibrary.org/obo/HP_0041052		
OBO:HP_0041053	Fractured head	biolink:OntologyClass	hp		A partial or complete breakage of the head.	http://purl.obolibrary.org/obo/HP_0041053		bone head
OBO:HP_0041054	obsolete Fractured thoracic segment of trunk	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0041054		
OBO:HP_0041055	Fractured humerus	biolink:OntologyClass	hp		A partial or complete breakage of the humerus.	http://purl.obolibrary.org/obo/HP_0041055		Broken humerus|Fracture of the humerus|Humeral fracture|Humerus fracture|bone humerus
OBO:HP_0041056	Hot cross bun sign	biolink:OntologyClass	hp		A cruciform-shaped hyperintensity within the pons found on T2-weighted magnetic resonance imaging (MRI).	http://purl.obolibrary.org/obo/HP_0041056		
OBO:HP_0041057	Transient decreased circulating IgG4	biolink:OntologyClass	hp		A temporary reduction beneath the normal level of total immunoglobulin G4 (IgG4) in the blood circulation.	http://purl.obolibrary.org/obo/HP_0041057		Transient decreased IgG4 in blood
OBO:HP_0041058	Chronic decreased circulating IgG4	biolink:OntologyClass	hp		A lasting decrease of immunoglobulin G4 (IgG4) in the blood.	http://purl.obolibrary.org/obo/HP_0041058		Chronic decreased IgG4 in blood
OBO:HP_0041059	Chronic (near) absent circulating IgG4	biolink:OntologyClass	hp		A lasting absence of immunoglobulin G4 (IgG4) in the blood, whereby at most trace quantities of IgG4 can be measured.	http://purl.obolibrary.org/obo/HP_0041059		Chronic (near) absent IgG4 in blood
OBO:HP_0041060	Chronic partially decreased circulating IgG4	biolink:OntologyClass	hp		A lasting limited decrease of immunoglobulin G4 (IgG4) in the blood.	http://purl.obolibrary.org/obo/HP_0041060		Chronic partially decreased IgG4 in blood
OBO:HP_0041061	Fractured calcaneus	biolink:OntologyClass	hp		A partial or complete breakage of the calcaneus.	http://purl.obolibrary.org/obo/HP_0041061		bone calcaneus
OBO:HP_0041062	Transient decreased circulating IgG2	biolink:OntologyClass	hp		A temporary reduction beneath the normal level of total immunoglobulin G2 (IgG2) in the blood circulation.	http://purl.obolibrary.org/obo/HP_0041062		Transient decreased IgG2 in blood
OBO:HP_0041063	Chronic decreased cirulating IgG2	biolink:OntologyClass	hp		A lasting decrease of immunoglobulin G2 (IgG2) in the blood.	http://purl.obolibrary.org/obo/HP_0041063		Chronic decreased IgG2 in blood
OBO:HP_0041064	Fractured knee	biolink:OntologyClass	hp		A partial or complete breakage of the knee.	http://purl.obolibrary.org/obo/HP_0041064		bone knee
OBO:HP_0041065	Chronic (near) absent circulating IgG2	biolink:OntologyClass	hp		A lasting absence of immunoglobulin G2 (IgG2) in the blood, whereby at most trace quantities of IgG2 can be measured.	http://purl.obolibrary.org/obo/HP_0041065		Chronic (near) absent IgG2 in blood
OBO:HP_0041066	Chronic partially decreased circulating IgG2	biolink:OntologyClass	hp		A lasting limited decrease of immunoglobulin G2 (IgG2) in the blood.	http://purl.obolibrary.org/obo/HP_0041066		Chronic partially decreased IgG2 in blood
OBO:HP_0041067	Transient decreased circulating IgG1	biolink:OntologyClass	hp		A temporary reduction beneath the normal level of total immunoglobulin G1 (IgG1) in the blood circulation.	http://purl.obolibrary.org/obo/HP_0041067		Transient decreased IgG1 in blood
OBO:HP_0041068	Chronic decreased circulating IgG1	biolink:OntologyClass	hp		A lasting decrease of immunoglobulin G1 (IgG1) in the blood.	http://purl.obolibrary.org/obo/HP_0041068		Chronic decreased IgG1 in blood
OBO:HP_0041069	Chronic (near) absent circulating IgG1	biolink:OntologyClass	hp		A lasting absence of immunoglobulin G1 (IgG1) in the blood, whereby at most trace quantities of IgG1 can be measured.	http://purl.obolibrary.org/obo/HP_0041069		Chronic (near) absent IgG1 in blood
OBO:HP_0041070	Chronic partially decreased circulating IgG1	biolink:OntologyClass	hp		A lasting limited decrease of immunoglobulin G1 (IgG1) in the blood.	http://purl.obolibrary.org/obo/HP_0041070		Chronic partially decreased IgG1 in blood
OBO:HP_0041071	Transient decreased circulating IgG3	biolink:OntologyClass	hp		A temporary reduction beneath the normal level of total immunoglobulin G3 (IgG3) in the blood circulation.	http://purl.obolibrary.org/obo/HP_0041071		Transient decreased IgG3 in blood
OBO:HP_0041072	Chronic decreased circulating IgG3	biolink:OntologyClass	hp		A lasting decrease of immunoglobulin G3 (IgG3) in the blood.	http://purl.obolibrary.org/obo/HP_0041072		Chronic decreased IgG3 in blood
OBO:HP_0041073	Fractured thoracic vertebra	biolink:OntologyClass	hp		A partial or complete breakage of the thoracic vertebra.	http://purl.obolibrary.org/obo/HP_0041073		bone thoracic vertebra
OBO:HP_0041074	Chronic (near) absent circulating IgG3	biolink:OntologyClass	hp		A lasting absence of immunoglobulin G3 (IgG3) in the blood, whereby at most trace quantities of IgG3 can be measured.	http://purl.obolibrary.org/obo/HP_0041074		Chronic (near) absent IgG3 in blood
OBO:HP_0041075	Chronic partially decreased circulating IgG3	biolink:OntologyClass	hp		A lasting limited decrease of immunoglobulin G3 (IgG3) in the blood.	http://purl.obolibrary.org/obo/HP_0041075		Chronic partially decreased IgG3 in blood
OBO:HP_0041076	Abnormal immunoglobulin level in body fluid	biolink:OntologyClass	hp		An abnormal deviation from normal levels of immunoglobulins in body fluids, such as mucous.	http://purl.obolibrary.org/obo/HP_0041076		
OBO:HP_0041077	Increased immunoglobulin level in body fluid	biolink:OntologyClass	hp		An elevation from normal levels of immunoglobulins in body fluids, such as mucous.	http://purl.obolibrary.org/obo/HP_0041077		
OBO:HP_0041078	Decreased immunoglobulin level in body fluid	biolink:OntologyClass	hp		An reduction from normal levels of immunoglobulins in body fluids, such as mucous.	http://purl.obolibrary.org/obo/HP_0041078		
OBO:HP_0041079	Decreased body fat percentage	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0041079		Decreased adipose tissue percentage
OBO:HP_0041080	Abnormal proportion of exhausted T cells	biolink:OntologyClass	hp		A deviation from the normal proportion of exhausted T cell relative to T cell in the blood.	http://purl.obolibrary.org/obo/HP_0041080		
OBO:HP_0041081	Fractured lower leg	biolink:OntologyClass	hp		Bone fracture anywhere in the tibia, fibula, or ankle.	http://purl.obolibrary.org/obo/HP_0041081		Fracture of the lower leg|Lower extremity fracture|Lower limb fracture
OBO:HP_0041082	Fractured skull	biolink:OntologyClass	hp		A partial or complete breakage of the skull.	http://purl.obolibrary.org/obo/HP_0041082		bone skull
OBO:HP_0041083	Fractured phalanx	biolink:OntologyClass	hp		A partial or complete breakage of the phalanx.	http://purl.obolibrary.org/obo/HP_0041083		bone phalanx
OBO:HP_0041084	Compression-fractured thoracic vertebra	biolink:OntologyClass	hp		A fracture of the thoracic vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging.	http://purl.obolibrary.org/obo/HP_0041084		Compression fractured thoracic vertebra|Wedge fractured thoracic vertebra
OBO:HP_0041085	Compression-fractured vertebra	biolink:OntologyClass	hp		A fracture of the vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging.	http://purl.obolibrary.org/obo/HP_0041085		Compression fractured vertebra|Wedge fractured vertebra
OBO:HP_0041086	Compression-fractured cervical vertebra	biolink:OntologyClass	hp		A fracture of the cervical vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging.	http://purl.obolibrary.org/obo/HP_0041086		Compression fractured cervical vertebra|Wedge fractured cervical vertebra
OBO:HP_0041087	Compression-fractured lumbar vertebra	biolink:OntologyClass	hp		A fracture of the lumbar vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging.	http://purl.obolibrary.org/obo/HP_0041087		Compression fractured lumbar vertebra|Wedge fractured lumbar vertebra
OBO:HP_0041088	Avulsion fractured humerus	biolink:OntologyClass	hp		A fractured in which a fragment of the humerus tears away from the main mass of bone as a result of physical trauma.	http://purl.obolibrary.org/obo/HP_0041088		
OBO:HP_0041089	Avulsion fractured tibia	biolink:OntologyClass	hp		A fractured in which a fragment of the tibia tears away from the main mass of bone as a result of physical trauma.	http://purl.obolibrary.org/obo/HP_0041089		
OBO:HP_0041090	obsolete Avulsion fractured pelvic region of trunk	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0041090		
OBO:HP_0041091	Avulsion fractured epiphysis of femur	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0041091		
OBO:HP_0041092	Emotional hypersensitivity	biolink:OntologyClass	hp		Heightened emotional reactivity to environmental stimuli, including emotions of others.	http://purl.obolibrary.org/obo/HP_0041092		Highly sensitive|Hypersensitivity|Overly sensitive
OBO:HP_0041114	Fractured metaphysis of femur	biolink:OntologyClass	hp		A partial or complete breakage of the metaphysis of femur.	http://purl.obolibrary.org/obo/HP_0041114		bone metaphysis of femur
OBO:HP_0041115	Fractured right clavicle	biolink:OntologyClass	hp		A partial or complete breakage of the right clavicle.	http://purl.obolibrary.org/obo/HP_0041115		bone right clavicle
OBO:HP_0041116	Fractured left clavicle	biolink:OntologyClass	hp		A partial or complete breakage of the left clavicle.	http://purl.obolibrary.org/obo/HP_0041116		bone left clavicle
OBO:HP_0041117	Fractured lower limb segment	biolink:OntologyClass	hp		A partial or complete breakage of the lower limb segment.	http://purl.obolibrary.org/obo/HP_0041117		bone lower limb segment
OBO:HP_0041118	Fractured upper limb segment	biolink:OntologyClass	hp		A partial or complete breakage of the upper limb segment.	http://purl.obolibrary.org/obo/HP_0041118		bone upper limb segment
OBO:HP_0041119	Fractured metacarpus skeleton	biolink:OntologyClass	hp		A partial or complete breakage of the metacarpus skeleton.	http://purl.obolibrary.org/obo/HP_0041119		bone metacarpus skeleton
OBO:HP_0041121	Fractured epiphysis of fifth metacarpal bone	biolink:OntologyClass	hp		A partial or complete breakage of the epiphysis of fifth metacarpal bone.	http://purl.obolibrary.org/obo/HP_0041121		bone epiphysis of fifth metacarpal bone
OBO:HP_0041143	Fractured tibia	biolink:OntologyClass	hp		A partial or complete breakage of the tibia.	http://purl.obolibrary.org/obo/HP_0041143		Broken tibia|Fracture of the tibia|Tibial fracture|bone tibia
OBO:HP_0041144	Fractured clavicle bone	biolink:OntologyClass	hp		A partial or complete breakage of the clavicle bone.	http://purl.obolibrary.org/obo/HP_0041144		bone clavicle bone
OBO:HP_0041145	Fractured acetabular part of hip bone	biolink:OntologyClass	hp		A partial or complete breakage of the acetabular part of hip bone.	http://purl.obolibrary.org/obo/HP_0041145		bone acetabular part of hip bone
OBO:HP_0041146	Fractured coccyx	biolink:OntologyClass	hp		A partial or complete breakage of the coccyx.	http://purl.obolibrary.org/obo/HP_0041146		bone coccyx
OBO:HP_0041147	Fractured epiphysis	biolink:OntologyClass	hp		A partial or complete breakage of the epiphysis.	http://purl.obolibrary.org/obo/HP_0041147		bone epiphysis
OBO:HP_0041149	Fractured navicular bone of pes	biolink:OntologyClass	hp		A partial or complete breakage of the navicular bone of pes.	http://purl.obolibrary.org/obo/HP_0041149		bone navicular bone of pes
OBO:HP_0041150	Fractured cuboid bone	biolink:OntologyClass	hp		A partial or complete breakage of the cuboid bone.	http://purl.obolibrary.org/obo/HP_0041150		bone cuboid bone
OBO:HP_0041152	Fractured sternoclavicular joint	biolink:OntologyClass	hp		A partial or complete breakage of the sternoclavicular joint.	http://purl.obolibrary.org/obo/HP_0041152		bone sternoclavicular joint
OBO:HP_0041153	Fractured ankle	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0041153		bone ankle joint
OBO:HP_0041154	Fractured elbow joint	biolink:OntologyClass	hp		A partial or complete breakage of the elbow joint.	http://purl.obolibrary.org/obo/HP_0041154		bone elbow joint
OBO:HP_0041155	Fractured mandible	biolink:OntologyClass	hp		A partial or complete breakage of the mandible.	http://purl.obolibrary.org/obo/HP_0041155		bone mandible
OBO:HP_0041156	Fractured orbit of skull	biolink:OntologyClass	hp		A partial or complete breakage of the orbit of skull.	http://purl.obolibrary.org/obo/HP_0041156		bone orbit of skull
OBO:HP_0041157	Fractured larynx	biolink:OntologyClass	hp		A partial or complete breakage of the larynx.	http://purl.obolibrary.org/obo/HP_0041157		bone larynx
OBO:HP_0041158	obsolete Fractured trunk	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0041158		
OBO:HP_0041159	Fractured rib	biolink:OntologyClass	hp		A partial or complete breakage of the rib.	http://purl.obolibrary.org/obo/HP_0041159		bone rib
OBO:HP_0041161	obsolete Fractured pelvic region of trunk	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0041161		
OBO:HP_0041162	Fractured foot bone	biolink:OntologyClass	hp		A partial or complete breakage of the foot bone, such as the metatarsal or toe.	http://purl.obolibrary.org/obo/HP_0041162		Broken foot|Fractured pes|bone pes|Metatarsal fracture
OBO:HP_0041163	Fractured manual digit	biolink:OntologyClass	hp		A partial or complete breakage of the manual digit.	http://purl.obolibrary.org/obo/HP_0041163		bone manual digit
OBO:HP_0041164	Fractured talus	biolink:OntologyClass	hp		A partial or complete breakage of the talus.	http://purl.obolibrary.org/obo/HP_0041164		bone talus
OBO:HP_0041165	Fractured maxilla	biolink:OntologyClass	hp		A partial or complete breakage of the maxilla.	http://purl.obolibrary.org/obo/HP_0041165		bone maxilla
OBO:HP_0041166	Fractured vertebra	biolink:OntologyClass	hp		A partial or complete breakage of the vertebra.	http://purl.obolibrary.org/obo/HP_0041166		bone vertebra
OBO:HP_0041167	Fractured cervical vertebra	biolink:OntologyClass	hp		A partial or complete breakage of the cervical vertebra.	http://purl.obolibrary.org/obo/HP_0041167		bone cervical vertebra
OBO:HP_0041168	Fractured lumbar vertebra	biolink:OntologyClass	hp		A partial or complete breakage of the lumbar vertebra.	http://purl.obolibrary.org/obo/HP_0041168		bone lumbar vertebra
OBO:HP_0041172	Fractured fused sacrum	biolink:OntologyClass	hp		A partial or complete breakage of the fused sacrum.	http://purl.obolibrary.org/obo/HP_0041172		bone fused sacrum
OBO:HP_0041173	Fractured metacarpophalangeal joint	biolink:OntologyClass	hp		A partial or complete breakage of the metacarpophalangeal joint.	http://purl.obolibrary.org/obo/HP_0041173		bone metacarpophalangeal joint
OBO:HP_0041174	Fractured distal phalanx of manus	biolink:OntologyClass	hp		A partial or complete breakage of the distal phalanx of manus.	http://purl.obolibrary.org/obo/HP_0041174		bone distal phalanx of manus
OBO:HP_0041175	Fractured middle phalanx of pes	biolink:OntologyClass	hp		A partial or complete breakage of the middle phalanx of pes.	http://purl.obolibrary.org/obo/HP_0041175		bone middle phalanx of pes
OBO:HP_0041176	Fractured distal phalanx of manual digit 2	biolink:OntologyClass	hp		A partial or complete breakage of the distal phalanx of manual digit 2.	http://purl.obolibrary.org/obo/HP_0041176		bone distal phalanx of manual digit 2
OBO:HP_0041177	Fractured distal phalanx of manual digit 3	biolink:OntologyClass	hp		A partial or complete breakage of the distal phalanx of manual digit 3.	http://purl.obolibrary.org/obo/HP_0041177		bone distal phalanx of manual digit 3
OBO:HP_0041178	Fractured distal phalanx of manual digit 4	biolink:OntologyClass	hp		A partial or complete breakage of the distal phalanx of manual digit 4.	http://purl.obolibrary.org/obo/HP_0041178		bone distal phalanx of manual digit 4
OBO:HP_0041179	Fractured distal phalanx of manual digit 5	biolink:OntologyClass	hp		A partial or complete breakage of the distal phalanx of manual digit 5.	http://purl.obolibrary.org/obo/HP_0041179		bone distal phalanx of manual digit 5
OBO:HP_0041180	Fractured distal phalanx of pedal digit 1	biolink:OntologyClass	hp		A partial or complete breakage of the distal phalanx of pedal digit 1.	http://purl.obolibrary.org/obo/HP_0041180		bone distal phalanx of pedal digit 1
OBO:HP_0041181	Fractured distal phalanx of pedal digit 3	biolink:OntologyClass	hp		A partial or complete breakage of the distal phalanx of pedal digit 3.	http://purl.obolibrary.org/obo/HP_0041181		bone distal phalanx of pedal digit 3
OBO:HP_0041182	Fractured middle phalanx of manual digit 2	biolink:OntologyClass	hp		A partial or complete breakage of the middle phalanx of manual digit 2.	http://purl.obolibrary.org/obo/HP_0041182		bone middle phalanx of manual digit 2
OBO:HP_0041183	Fractured middle phalanx of manual digit 3	biolink:OntologyClass	hp		A partial or complete breakage of the middle phalanx of manual digit 3.	http://purl.obolibrary.org/obo/HP_0041183		bone middle phalanx of manual digit 3
OBO:HP_0041184	Fractured middle phalanx of manual digit 4	biolink:OntologyClass	hp		A partial or complete breakage of the middle phalanx of manual digit 4.	http://purl.obolibrary.org/obo/HP_0041184		bone middle phalanx of manual digit 4
OBO:HP_0041185	Fractured middle phalanx of manual digit 5	biolink:OntologyClass	hp		A partial or complete breakage of the middle phalanx of manual digit 5.	http://purl.obolibrary.org/obo/HP_0041185		bone middle phalanx of manual digit 5
OBO:HP_0041186	Fractured middle phalanx of pedal digit 3	biolink:OntologyClass	hp		A partial or complete breakage of the middle phalanx of pedal digit 3.	http://purl.obolibrary.org/obo/HP_0041186		bone middle phalanx of pedal digit 3
OBO:HP_0041187	Fractured proximal phalanx of pedal digit 1	biolink:OntologyClass	hp		A partial or complete breakage of the proximal phalanx of pedal digit 1.	http://purl.obolibrary.org/obo/HP_0041187		bone proximal phalanx of pedal digit 1
OBO:HP_0041188	Fractured proximal phalanx of manual digit 1	biolink:OntologyClass	hp		A partial or complete breakage of the proximal phalanx of manual digit 1.	http://purl.obolibrary.org/obo/HP_0041188		bone proximal phalanx of manual digit 1
OBO:HP_0041189	Fractured epiphysis of femur	biolink:OntologyClass	hp		A partial or complete breakage of the epiphysis of femur.	http://purl.obolibrary.org/obo/HP_0041189		bone epiphysis of femur
OBO:HP_0041190	Fractured epiphysis of second metacarpal bone	biolink:OntologyClass	hp		A partial or complete breakage of the epiphysis of second metacarpal bone.	http://purl.obolibrary.org/obo/HP_0041190		bone epiphysis of second metacarpal bone
OBO:HP_0041191	Fractured epiphysis of third metacarpal bone	biolink:OntologyClass	hp		A partial or complete breakage of the epiphysis of third metacarpal bone.	http://purl.obolibrary.org/obo/HP_0041191		bone epiphysis of third metacarpal bone
OBO:HP_0041192	Fractured epiphysis of fourth metacarpal bone	biolink:OntologyClass	hp		A partial or complete breakage of the epiphysis of fourth metacarpal bone.	http://purl.obolibrary.org/obo/HP_0041192		bone epiphysis of fourth metacarpal bone
OBO:HP_0041193	Fractured epiphysis of first metatarsal bone	biolink:OntologyClass	hp		A partial or complete breakage of the epiphysis of first metatarsal bone.	http://purl.obolibrary.org/obo/HP_0041193		bone epiphysis of first metatarsal bone
OBO:HP_0041194	Fractured epiphysis of second metatarsal bone	biolink:OntologyClass	hp		A partial or complete breakage of the epiphysis of second metatarsal bone.	http://purl.obolibrary.org/obo/HP_0041194		bone epiphysis of second metatarsal bone
OBO:HP_0041195	Fractured epiphysis of third metatarsal bone	biolink:OntologyClass	hp		A partial or complete breakage of the epiphysis of third metatarsal bone.	http://purl.obolibrary.org/obo/HP_0041195		bone epiphysis of third metatarsal bone
OBO:HP_0041196	Fractured distal epiphysis of radius	biolink:OntologyClass	hp		A partial or complete breakage of the distal epiphysis of radius.	http://purl.obolibrary.org/obo/HP_0041196		bone distal epiphysis of radius
OBO:HP_0041197	Fractured proximal epiphysis of first metacarpal bone	biolink:OntologyClass	hp		A partial or complete breakage of the proximal epiphysis of first metacarpal bone.	http://purl.obolibrary.org/obo/HP_0041197		bone proximal epiphysis of first metacarpal bone
OBO:HP_0041198	Fractured proximal epiphysis of middle phalanx of manual digit 3	biolink:OntologyClass	hp		A partial or complete breakage of the proximal epiphysis of middle phalanx of manual digit 3.	http://purl.obolibrary.org/obo/HP_0041198		bone proximal epiphysis of middle phalanx of manual digit 3
OBO:HP_0041199	Fractured interphalangeal joint	biolink:OntologyClass	hp		A partial or complete breakage of the interphalangeal joint.	http://purl.obolibrary.org/obo/HP_0041199		bone interphalangeal joint
OBO:HP_0041200	Fractured sternal end of clavicle	biolink:OntologyClass	hp		A partial or complete breakage of the sternal end of clavicle.	http://purl.obolibrary.org/obo/HP_0041200		bone sternal end of clavicle
OBO:HP_0041209	Fractured epiphysis of middle phalanx of manus	biolink:OntologyClass	hp		A partial or complete breakage of the epiphysis of middle phalanx of manus.	http://purl.obolibrary.org/obo/HP_0041209		bone epiphysis of middle phalanx of manus
OBO:HP_0041210	Fractured lateral malleolus of fibula	biolink:OntologyClass	hp		A partial or complete breakage of the lateral malleolus of fibula.	http://purl.obolibrary.org/obo/HP_0041210		bone lateral malleolus of fibula
OBO:HP_0041211	Fractured proximal phalanx of digit 2	biolink:OntologyClass	hp		A partial or complete breakage of the proximal phalanx of digit 2.	http://purl.obolibrary.org/obo/HP_0041211		bone proximal phalanx of digit 2
OBO:HP_0041212	Fractured proximal phalanx of digit 3	biolink:OntologyClass	hp		A partial or complete breakage of the proximal phalanx of digit 3.	http://purl.obolibrary.org/obo/HP_0041212		bone proximal phalanx of digit 3
OBO:HP_0041213	Fractured proximal phalanx of digit 4	biolink:OntologyClass	hp		A partial or complete breakage of the proximal phalanx of digit 4.	http://purl.obolibrary.org/obo/HP_0041213		bone proximal phalanx of digit 4
OBO:HP_0041214	Fractured proximal phalanx of digit 5	biolink:OntologyClass	hp		A partial or complete breakage of the proximal phalanx of digit 5.	http://purl.obolibrary.org/obo/HP_0041214		bone proximal phalanx of digit 5
OBO:HP_0041215	Fractured fused metatarsal bones 2-4	biolink:OntologyClass	hp		A partial or complete breakage of the fused metatarsal bones 2-4.	http://purl.obolibrary.org/obo/HP_0041215		bone fused metatarsal bones 2-4
OBO:HP_0041216	Fractured distal epiphysis of distal phalanx of manual digit 1	biolink:OntologyClass	hp		A partial or complete breakage of the distal epiphysis of distal phalanx of manual digit 1.	http://purl.obolibrary.org/obo/HP_0041216		bone distal epiphysis of distal phalanx of manual digit 1
OBO:HP_0041217	Fractured shoulder	biolink:OntologyClass	hp		A fracture or multiple fractures of the humerus (ball) or the glenoid (socket) of the shoulder joint.	http://purl.obolibrary.org/obo/HP_0041217		bone shoulder joint
OBO:HP_0041218	Fractured distal phalanx	biolink:OntologyClass	hp		A partial or complete breakage of the distal phalanx.	http://purl.obolibrary.org/obo/HP_0041218		bone distal phalanx
OBO:HP_0041219	Fractured elbow	biolink:OntologyClass	hp		A partial or complete breakage of the elbow.	http://purl.obolibrary.org/obo/HP_0041219		bone elbow
OBO:HP_0041220	Fractured facial bone	biolink:OntologyClass	hp		A partial or complete breakage of the facial bone.	http://purl.obolibrary.org/obo/HP_0041220		bone facial bone
OBO:HP_0041221	Fractured head of femur	biolink:OntologyClass	hp		A partial or complete breakage of the head of femur.	http://purl.obolibrary.org/obo/HP_0041221		bone head of femur
OBO:HP_0041222	Fractured fibula	biolink:OntologyClass	hp		A partial or complete breakage of the fibula.	http://purl.obolibrary.org/obo/HP_0041222		Broken fibula|Fibula fracture|Fracture of the fibula|bone fibula
OBO:HP_0041223	Fractured metatarsal bone of digit 5	biolink:OntologyClass	hp		A partial or complete breakage of the metatarsal bone of digit 5.	http://purl.obolibrary.org/obo/HP_0041223		bone metatarsal bone of digit 5
OBO:HP_0041224	Fractured manual digit bone	biolink:OntologyClass	hp		A partial or complete breakage of the manual digit bone.	http://purl.obolibrary.org/obo/HP_0041224		bone manual digit bone
OBO:HP_0041225	Fractured metacarpal bone of digit 1	biolink:OntologyClass	hp		A partial or complete breakage of the metacarpal bone of digit 1.	http://purl.obolibrary.org/obo/HP_0041225		bone metacarpal bone of digit 1
OBO:HP_0041226	Fractured distal tarsal bone	biolink:OntologyClass	hp		A partial or complete breakage of the distal tarsal bone.	http://purl.obolibrary.org/obo/HP_0041226		bone distal tarsal bone
OBO:HP_0041227	Fractured distal tarsal bone 2	biolink:OntologyClass	hp		A partial or complete breakage of the distal tarsal bone 2.	http://purl.obolibrary.org/obo/HP_0041227		bone distal tarsal bone 2
OBO:HP_0041228	Fractured distal tarsal bone 3	biolink:OntologyClass	hp		A partial or complete breakage of the distal tarsal bone 3.	http://purl.obolibrary.org/obo/HP_0041228		bone distal tarsal bone 3
OBO:HP_0041230	Fractured metatarsal bone of digit 4	biolink:OntologyClass	hp		A partial or complete breakage of the metatarsal bone of digit 4.	http://purl.obolibrary.org/obo/HP_0041230		bone metatarsal bone of digit 4
OBO:HP_0041231	Fractured metatarsal bone of digit 1	biolink:OntologyClass	hp		A partial or complete breakage of the metatarsal bone of digit 1.	http://purl.obolibrary.org/obo/HP_0041231		bone metatarsal bone of digit 1
OBO:HP_0041232	Fractured skeleton of manual acropodium	biolink:OntologyClass	hp		A partial or complete breakage of the skeleton of manual acropodium.	http://purl.obolibrary.org/obo/HP_0041232		bone skeleton of manual acropodium
OBO:HP_0041233	Fractured ilium	biolink:OntologyClass	hp		A partial or complete breakage of the ilium.	http://purl.obolibrary.org/obo/HP_0041233		bone ilium
OBO:HP_0041234	Fractured bone of jaw	biolink:OntologyClass	hp		A partial or complete breakage of the bone of jaw.	http://purl.obolibrary.org/obo/HP_0041234		bone bone of jaw
OBO:HP_0041235	Fractured hindlimb bone	biolink:OntologyClass	hp		A partial or complete breakage of the hindlimb bone.	http://purl.obolibrary.org/obo/HP_0041235		bone hindlimb bone
OBO:HP_0041236	Fractured middle phalanx of manus	biolink:OntologyClass	hp		A partial or complete breakage of the middle phalanx of manus.	http://purl.obolibrary.org/obo/HP_0041236		bone middle phalanx of manus
OBO:HP_0041237	Fractured patella	biolink:OntologyClass	hp		A partial or complete breakage of the patella.	http://purl.obolibrary.org/obo/HP_0041237		bone patella
OBO:HP_0041239	Fractured manual digit 1 phalanx	biolink:OntologyClass	hp		A partial or complete breakage of the manual digit 1 phalanx.	http://purl.obolibrary.org/obo/HP_0041239		bone manual digit 1 phalanx
OBO:HP_0041240	Fractured phalanx of pes	biolink:OntologyClass	hp		A partial or complete breakage of the phalanx of pes.	http://purl.obolibrary.org/obo/HP_0041240		bone phalanx of pes
OBO:HP_0041241	Fractured phalanx of manus	biolink:OntologyClass	hp		A partial or complete breakage of the phalanx of manus.	http://purl.obolibrary.org/obo/HP_0041241		bone phalanx of manus
OBO:HP_0041243	Fractured proximal phalanx of manus	biolink:OntologyClass	hp		A partial or complete breakage of the proximal phalanx of manus.	http://purl.obolibrary.org/obo/HP_0041243		bone proximal phalanx of manus
OBO:HP_0041244	Fractured scapula	biolink:OntologyClass	hp		A partial or complete breakage of the scapula.	http://purl.obolibrary.org/obo/HP_0041244		bone scapula
OBO:HP_0041245	Fractured shoulder bone	biolink:OntologyClass	hp		A partial or complete breakage of the shoulder bone.	http://purl.obolibrary.org/obo/HP_0041245		bone shoulder bone
OBO:HP_0041246	Fractured sternum	biolink:OntologyClass	hp		A partial or complete breakage of the sternum.	http://purl.obolibrary.org/obo/HP_0041246		bone sternum
OBO:HP_0041247	Fractured tarsal bone	biolink:OntologyClass	hp		A partial or complete breakage of the tarsal bone.	http://purl.obolibrary.org/obo/HP_0041247		bone tarsal bone
OBO:HP_0041248	Fractured carpal bone	biolink:OntologyClass	hp		A partial or complete breakage of the carpal bone.	http://purl.obolibrary.org/obo/HP_0041248		Broken wrist|Carpal bone fracture|Fractured wrist|Wrist fracture|bone carpal bone
OBO:HP_0041249	Fractured nose	biolink:OntologyClass	hp		A partial or complete breakage of the nose.	http://purl.obolibrary.org/obo/HP_0041249		bone nose
OBO:HP_0045001	Abnormal ossification of the trapezium	biolink:OntologyClass	hp	UMLS:C4022409		http://purl.obolibrary.org/obo/HP_0045001		
OBO:HP_0045002	Absent ossification of the trapezium	biolink:OntologyClass	hp	UMLS:C4022408		http://purl.obolibrary.org/obo/HP_0045002		
OBO:HP_0045003	Abnormal ossification of the scaphoid	biolink:OntologyClass	hp	UMLS:C4022407		http://purl.obolibrary.org/obo/HP_0045003		
OBO:HP_0045004	Abnormal ossification of the trapezoid bone	biolink:OntologyClass	hp	UMLS:C4022406		http://purl.obolibrary.org/obo/HP_0045004		
OBO:HP_0045005	Neural tube defect	biolink:OntologyClass	hp	MSH:D009436|SNOMEDCT_US:253098009|UMLS:C0027794	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.	http://purl.obolibrary.org/obo/HP_0045005		Abnormality of neural tube closure
OBO:HP_0045006	Aplasia of lymphatic vessels	biolink:OntologyClass	hp	UMLS:C4022404	Aplasia (absence) of the lymphatic vessels.	http://purl.obolibrary.org/obo/HP_0045006		Absent lymphatic vessels
OBO:HP_0045007	Abnormal substantia nigra morphology	biolink:OntologyClass	hp	UMLS:C4022403	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.	http://purl.obolibrary.org/obo/HP_0045007		Abnormality of the substantia nigra
OBO:HP_0045008	Abnormal shape of the radius	biolink:OntologyClass	hp	UMLS:C4022402		http://purl.obolibrary.org/obo/HP_0045008		
OBO:HP_0045009	Abnormal morphology of the radius	biolink:OntologyClass	hp	UMLS:C4022401		http://purl.obolibrary.org/obo/HP_0045009		
OBO:HP_0045010	Abnormality of peripheral nerves	biolink:OntologyClass	hp	UMLS:C4022400		http://purl.obolibrary.org/obo/HP_0045010		
OBO:HP_0045011	Decreased urine bicarbonate concentration	biolink:OntologyClass	hp	UMLS:C4022399	Abnormally decreased concentration of hydrogencarbonate in the urine.	http://purl.obolibrary.org/obo/HP_0045011		Decreased urine HCO3 concentration
OBO:HP_0045012	Decreased urinary catecholamine concentration	biolink:OntologyClass	hp	UMLS:C4022398		http://purl.obolibrary.org/obo/HP_0045012		
OBO:HP_0045013	obsolete Decreased urinary glucose concentration	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0045013		
OBO:HP_0045014	Hypolipidemia	biolink:OntologyClass	hp	SNOMEDCT_US:238090007|UMLS:C0342892		http://purl.obolibrary.org/obo/HP_0045014		
OBO:HP_0045016	obsolete Elevated serum long-chain fatty acids	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0045016		Increased serum long-chain fatty acids
OBO:HP_0045017	Congenital malformation of the left heart	biolink:OntologyClass	hp	UMLS:C4022397	Defect or defects of the morphogenesis of the left heart identifiable at birth.	http://purl.obolibrary.org/obo/HP_0045017		
OBO:HP_0045018	Partial duplication of eyebrows	biolink:OntologyClass	hp	UMLS:C4022396		http://purl.obolibrary.org/obo/HP_0045018		Partial double eyebrow|Partial duplication of eyebrows
OBO:HP_0045025	Narrow palpebral fissure	biolink:OntologyClass	hp	UMLS:C1837464|UMLS:C2675021	Reduction in the vertical distance between the upper and lower eyelids.	http://purl.obolibrary.org/obo/HP_0045025		Small opening between the eyelids|Narrow eyelid opening|Narrow palpebral fissures|Small palpebral fissures|Decreased size of palpebral fissure
OBO:HP_0045026	Abnormality of the mediastinum	biolink:OntologyClass	hp	UMLS:C4022395		http://purl.obolibrary.org/obo/HP_0045026		
OBO:HP_0045027	Abnormality of the thoracic cavity	biolink:OntologyClass	hp	UMLS:C4022394		http://purl.obolibrary.org/obo/HP_0045027		
OBO:HP_0045028	Microlissencephaly	biolink:OntologyClass	hp	UMLS:C4021030	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.	http://purl.obolibrary.org/obo/HP_0045028		Lissencephaly type III|Type 3 lissencephaly|Type III lissencephaly
OBO:HP_0045029	Eosinophilic fasciitis	biolink:OntologyClass	hp	MSH:C562487|SNOMEDCT_US:24129002|UMLS:C0264005	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.	http://purl.obolibrary.org/obo/HP_0045029		
OBO:HP_0045034	Elevated urinary aminoisobutyric acid	biolink:OntologyClass	hp	UMLS:C4022393	An increased amount of 3-aminoisobutyric acid in the urine.	http://purl.obolibrary.org/obo/HP_0045034		
OBO:HP_0045035	Decreased urinary copper concentration	biolink:OntologyClass	hp	UMLS:C4073164		http://purl.obolibrary.org/obo/HP_0045035		Decreased urinary copper concentration
OBO:HP_0045036	Abnormal urinary copper concentration	biolink:OntologyClass	hp	UMLS:C4073165		http://purl.obolibrary.org/obo/HP_0045036		Abnormal urinary copper concentration
OBO:HP_0045037	Abnormality of jaw muscles	biolink:OntologyClass	hp	UMLS:C4073166		http://purl.obolibrary.org/obo/HP_0045037		Abnormality of jaw muscles
OBO:HP_0045038	Gastric lymphoma	biolink:OntologyClass	hp	MSH:C535648|SNOMEDCT_US:276811008|UMLS:C0349532	Lymphoma that originates in the stomach itself.	http://purl.obolibrary.org/obo/HP_0045038		Primary gastric lymphoma
OBO:HP_0045039	Osteolysis involving bones of the upper limbs	biolink:OntologyClass	hp	UMLS:C4073167		http://purl.obolibrary.org/obo/HP_0045039		
OBO:HP_0045040	Abnormal lactate dehydrogenase level	biolink:OntologyClass	hp	UMLS:C4073168	A deviation from the normal serum concentration/activity of lactate dehydrogenase (LDH), which catalyzes the reduction of pyruvate to form lactate.	http://purl.obolibrary.org/obo/HP_0045040		
OBO:HP_0045041	Reduced lactate dehydrogenase B level	biolink:OntologyClass	hp	MSH:C563641|UMLS:C3279904	A decreased or reduced level of the enzyme lactate dehydrogenase in serum.	http://purl.obolibrary.org/obo/HP_0045041		
OBO:HP_0045042	Decreased serum complement C4	biolink:OntologyClass	hp	UMLS:C4073169	A reduced level of the complement component C4 in the circulation.	http://purl.obolibrary.org/obo/HP_0045042		Decreased serum complement C4 level
OBO:HP_0045043	Decreased serum complement C4a	biolink:OntologyClass	hp	UMLS:C4073170	A reduced level of the complement component C4a in circulation.	http://purl.obolibrary.org/obo/HP_0045043		C4a deficiency|Complement component 4A deficiency
OBO:HP_0045044	Decreased serum complement C4b	biolink:OntologyClass	hp	UMLS:C3280641	A reduced level of the complement component C4b in circulation.	http://purl.obolibrary.org/obo/HP_0045044		C4b deficiency|Complement component 4B deficiency
OBO:HP_0045045	Elevated circulating acylcarnitine concentration	biolink:OntologyClass	hp	UMLS:C4073171	An abnormally increased concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine.	http://purl.obolibrary.org/obo/HP_0045045		Elevated plasma acylcarnitine levels
OBO:HP_0045046	Reduced insulin like growth factor binding protein acid labile subunit level	biolink:OntologyClass	hp	UMLS:C3900122	Blood concentration of insulin like growth factor binding protein acid labile subunit level below normal limits.	http://purl.obolibrary.org/obo/HP_0045046		Acid-labile subunit deficiency|Decreased levels of acid labile subunit
OBO:HP_0045047	HbS hemoglobin	biolink:OntologyClass	hp	MSH:D006451|SNOMEDCT_US:50095005|UMLS:C0019043	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.	http://purl.obolibrary.org/obo/HP_0045047		HbS haemoglobin
OBO:HP_0045048	Increased HbA2 hemoglobin	biolink:OntologyClass	hp	UMLS:C4073172	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.	http://purl.obolibrary.org/obo/HP_0045048		Increased HbA2 haemoglobin|Increased hemoglobin A2
OBO:HP_0045049	Abnormal DLCO	biolink:OntologyClass	hp	UMLS:C4073173	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.	http://purl.obolibrary.org/obo/HP_0045049		Abnormal TLCO|Abnormal diffusing capacity|Abnormal transfer factor of the lung for carbon monoxide
OBO:HP_0045050	Increased DLCO	biolink:OntologyClass	hp	UMLS:C4073174	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.	http://purl.obolibrary.org/obo/HP_0045050		Increased diffusing capacity
OBO:HP_0045051	Decreased DLCO	biolink:OntologyClass	hp	UMLS:C4073175	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.	http://purl.obolibrary.org/obo/HP_0045051		Decreased diffusing capacity
OBO:HP_0045052	Abnormality of the brachial nerve plexus	biolink:OntologyClass	hp	UMLS:C4073176	Any abnormality of the brachial nerve plexus.	http://purl.obolibrary.org/obo/HP_0045052		
OBO:HP_0045053	Abnormality of the lumbosacral nerve plexus	biolink:OntologyClass	hp	UMLS:C4073177	Any abnormality of the lumbosacral nerve plexus.	http://purl.obolibrary.org/obo/HP_0045053		
OBO:HP_0045054	Brachial plexus neuropathy	biolink:OntologyClass	hp	MSH:D020516|SNOMEDCT_US:3548001|UMLS:C0700251		http://purl.obolibrary.org/obo/HP_0045054		
OBO:HP_0045055	Tiger tail banding	biolink:OntologyClass	hp	UMLS:C4073178	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.	http://purl.obolibrary.org/obo/HP_0045055		Tiger tail banding|Tiger-tail banding
OBO:HP_0045056	Abnormal levels of alpha-fetoprotein	biolink:OntologyClass	hp	UMLS:C4073179		http://purl.obolibrary.org/obo/HP_0045056		
OBO:HP_0045057	Decreased levels of alpha-fetoprotein	biolink:OntologyClass	hp	UMLS:C4073295	A decrease in the concentration of alpha-fetoprotein in the blood circulation.	http://purl.obolibrary.org/obo/HP_0045057		
OBO:HP_0045058	Abnormality of the testis size	biolink:OntologyClass	hp	UMLS:C4073180	An anomaly of the size of the testicle (the male gonad).	http://purl.obolibrary.org/obo/HP_0045058		
OBO:HP_0045059	Hyperkeratotic papule	biolink:OntologyClass	hp	UMLS:C2047516	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).	http://purl.obolibrary.org/obo/HP_0045059		
OBO:HP_0045060	Aplasia/hypoplasia involving bones of the extremities	biolink:OntologyClass	hp	UMLS:C4073181		http://purl.obolibrary.org/obo/HP_0045060		
OBO:HP_0045061	Decreased carnitine level in liver	biolink:OntologyClass	hp	UMLS:C4073182		http://purl.obolibrary.org/obo/HP_0045061		
OBO:HP_0045063	Increased PIVKA-II	biolink:OntologyClass	hp	UMLS:C1112467	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.	http://purl.obolibrary.org/obo/HP_0045063		Increased prothrombin induced by vitamin K absence-II
OBO:HP_0045073	Serositis	biolink:OntologyClass	hp		Inflammation in any serous cavity.	http://purl.obolibrary.org/obo/HP_0045073		
OBO:HP_0045074	Thin eyebrow	biolink:OntologyClass	hp		Decreased diameter of eyebrow hairs.	http://purl.obolibrary.org/obo/HP_0045074		Thin eyebrow|Thin eyebrows
OBO:HP_0045075	Sparse eyebrow	biolink:OntologyClass	hp		Decreased density/number of eyebrow hairs.	http://purl.obolibrary.org/obo/HP_0045075		Sparse eyebrow|Sparse eyebrows|Hypotrichosis of eyebrow
OBO:HP_0045079	Distal femoral metaphyseal irregularity	biolink:OntologyClass	hp		Irregularity of the normally smooth surface of the distal metaphysis of the femur.	http://purl.obolibrary.org/obo/HP_0045079		Irregular distal femoral metaphyses
OBO:HP_0045080	Decreased proportion of CD3-positive T cells	biolink:OntologyClass	hp		Any abnormality in the proportion of CD3-positive T cells relative to the total number of T cells.	http://purl.obolibrary.org/obo/HP_0045080		Decreased proportion of CD3+ T cells
OBO:HP_0045081	Abnormality of body mass index	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0045081		Abnormal BMI|Abnormal body mass index
OBO:HP_0045082	Decreased body mass index	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0045082		Decreased BMI
OBO:HP_0045083	obsolete Increased body mass index	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0045083		
OBO:HP_0045084	Limb myoclonus	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0045084		Myoclonus of limbs
OBO:HP_0045085	Atrophy of masseter muscle	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0045085		Atrophied masseter muscle|Masseter muscle atrophy
OBO:HP_0045086	Knee joint hypermobility	biolink:OntologyClass	hp		The ability of the knee to move past its normal range of motion, (knee hyperextension is greater than 10 degrees).	http://purl.obolibrary.org/obo/HP_0045086		Knee joint over-flexibility
OBO:HP_0045088	Clinical relevance	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0045088		
OBO:HP_0045089	Distinctive finding	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0045089		
OBO:HP_0045090	Minor finding	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0045090		
OBO:HP_0046502	Anorgasmia	biolink:OntologyClass	hp		Inability of individual to reach orgasm.	http://purl.obolibrary.org/obo/HP_0046502		
OBO:HP_0046503	Increased libido	biolink:OntologyClass	hp		Elevated sexual desire.	http://purl.obolibrary.org/obo/HP_0046503		
OBO:HP_0046504	Decreased libido	biolink:OntologyClass	hp		Decreased sexual desire.	http://purl.obolibrary.org/obo/HP_0046504		
OBO:HP_0046505	Hand pain	biolink:OntologyClass	hp		An unpleasant sensation characterized by physical discomfort localized to the hand.	http://purl.obolibrary.org/obo/HP_0046505		
OBO:HP_0046506	Pain in head and neck region	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0046506		
OBO:HP_0046507	Bradypnea	biolink:OntologyClass	hp	SNOMED_CT:86684002	Bradypnea is referring to breathing that is abnormally slow.	http://purl.obolibrary.org/obo/HP_0046507		
OBO:HP_0046508	Abnormal cervical spine morphology	biolink:OntologyClass	hp	SNOMED_CT:298391004	Any morphological abnormality of the cervical vertebral column.	http://purl.obolibrary.org/obo/HP_0046508		
OBO:HP_0100000	Early onset of sexual maturation	biolink:OntologyClass	hp	UMLS:C4022392	An early onset of puberty, in this case early does not refer to precocious.	http://purl.obolibrary.org/obo/HP_0100000		Early onset of sexual maturation
OBO:HP_0100001	Malignant mesothelioma	biolink:OntologyClass	hp	MSH:C562839|SNOMEDCT_US:62064005|UMLS:C0345967	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.	http://purl.obolibrary.org/obo/HP_0100001		
OBO:HP_0100002	Pleural mesothelioma	biolink:OntologyClass	hp	NCIT:C3234|SNOMEDCT_US:254645002|UMLS:C0812413	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.	http://purl.obolibrary.org/obo/HP_0100002		
OBO:HP_0100003	Peritoneal mesothelioma	biolink:OntologyClass	hp	NCIT:C3234|SNOMEDCT_US:109853004|UMLS:C0346109	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.	http://purl.obolibrary.org/obo/HP_0100003		
OBO:HP_0100004	Pericardial mesothelioma	biolink:OntologyClass	hp	NCIT:C3234|UMLS:C1335381	A Malignant mesothelioma originating from cells of the pericardium (the thin layer of mesothelium lining the heart).	http://purl.obolibrary.org/obo/HP_0100004		
OBO:HP_0100005	Testicular mesothelioma	biolink:OntologyClass	hp	NCIT:C3234|UMLS:C4022391	A Malignant mesothelioma of the testis.	http://purl.obolibrary.org/obo/HP_0100005		
OBO:HP_0100006	Neoplasm of the central nervous system	biolink:OntologyClass	hp	MSH:D016543|NCIT:C3262|SNOMEDCT_US:126951006|UMLS:C0085136	A neoplasm of the central nervous system.	http://purl.obolibrary.org/obo/HP_0100006		Neoplasm of the CNS|Tumors of the central nervous system|Neoplasia of the central nervous system
OBO:HP_0100007	Neoplasm of the peripheral nervous system	biolink:OntologyClass	hp	MSH:D010524|NCIT:C3262|SNOMEDCT_US:126980002|UMLS:C0031118	A benign or malignant neoplasm (tumour) of the peripheral nervous system.	http://purl.obolibrary.org/obo/HP_0100007		Tumor of the peripheral nervous system
OBO:HP_0100008	Schwannoma	biolink:OntologyClass	hp	MSH:D009442|SNOMEDCT_US:404022001|SNOMEDCT_US:985004|UMLS:C0027809	A benign nerve sheath tumor composed of Schwann cells.	http://purl.obolibrary.org/obo/HP_0100008		Neurilemmoma|Neurinoma|Neurolemmoma|Schwann cell tumor|Schwann cell tumour|Schwannomas
OBO:HP_0100009	Intracranial meningioma	biolink:OntologyClass	hp	MSH:D008579|SNOMEDCT_US:302820008|UMLS:C0349604		http://purl.obolibrary.org/obo/HP_0100009		
OBO:HP_0100010	Spinal meningioma	biolink:OntologyClass	hp	MSH:D008579|NCIT:C3230|SNOMEDCT_US:189167009|UMLS:C0347515		http://purl.obolibrary.org/obo/HP_0100010		
OBO:HP_0100011	Scleral schwannoma	biolink:OntologyClass	hp	NCIT:C3269|UMLS:C4022390		http://purl.obolibrary.org/obo/HP_0100011		
OBO:HP_0100012	Neoplasm of the eye	biolink:OntologyClass	hp	MSH:D005134|NCIT:C3262|SNOMEDCT_US:371486001|UMLS:C0015414	A tumor (abnormal growth of tissue) of the eye.	http://purl.obolibrary.org/obo/HP_0100012		Eye tumor|Neoplasia of the eye
OBO:HP_0100013	Neoplasm of the breast	biolink:OntologyClass	hp	MSH:D001943|NCIT:C3262|SNOMEDCT_US:126926005|UMLS:C1458155	A tumor (abnormal growth of tissue) of the breast.	http://purl.obolibrary.org/obo/HP_0100013		Breast tumor|Tumours of the breast|Neoplasia of the breast
OBO:HP_0100014	Epiretinal membrane	biolink:OntologyClass	hp	MSH:D019773|SNOMEDCT_US:133853005|SNOMEDCT_US:367649002|UMLS:C0339543	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.	http://purl.obolibrary.org/obo/HP_0100014		Macular pucker|Premacular fibrosis|Epiretinal membranes
OBO:HP_0100015	Stahl ear	biolink:OntologyClass	hp	SNOMEDCT_US:253252004|UMLS:C1862689	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.	http://purl.obolibrary.org/obo/HP_0100015		Additional crus|Third crus
OBO:HP_0100016	Abnormality of mesentery morphology	biolink:OntologyClass	hp	UMLS:C4022389	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).	http://purl.obolibrary.org/obo/HP_0100016		Abnormality of the mesentery
OBO:HP_0100017	Capsular cataract	biolink:OntologyClass	hp	SNOMEDCT_US:204125003|UMLS:C0339352	A cataract that affects the capsule of the lens.	http://purl.obolibrary.org/obo/HP_0100017		
OBO:HP_0100018	Nuclear cataract	biolink:OntologyClass	hp	SNOMEDCT_US:53889007|UMLS:C0392557	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.	http://purl.obolibrary.org/obo/HP_0100018	hposlim_core	Yellowish cloudy center of lens
OBO:HP_0100019	Cortical cataract	biolink:OntologyClass	hp	SNOMEDCT_US:193576003|UMLS:C0271160	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.	http://purl.obolibrary.org/obo/HP_0100019	hposlim_core	
OBO:HP_0100020	Posterior capsular cataract	biolink:OntologyClass	hp	UMLS:C4022388	A cataract which is found in the back outer layer of the lens. This type often develops more rapidly.	http://purl.obolibrary.org/obo/HP_0100020		
OBO:HP_0100021	Cerebral palsy	biolink:OntologyClass	hp	MSH:D002547|SNOMEDCT_US:128188000|UMLS:C0007789	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.	http://purl.obolibrary.org/obo/HP_0100021		CP|Cerebral paralysis
OBO:HP_0100022	Abnormality of movement	biolink:OntologyClass	hp	MSH:D009069|SNOMEDCT_US:60342002|UMLS:C0026650	An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements.	http://purl.obolibrary.org/obo/HP_0100022		Abnormality of movement|Movement disorder|Unusual movement
OBO:HP_0100023	Recurrent hand flapping	biolink:OntologyClass	hp	UMLS:C4022387	A type of stereotypic behavior in which the affected individual repeatedly waves the hands up and down.	http://purl.obolibrary.org/obo/HP_0100023		
OBO:HP_0100024	Conspicuously happy disposition	biolink:OntologyClass	hp	UMLS:C4021029	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.	http://purl.obolibrary.org/obo/HP_0100024		Conspicious happy aspect|Happy aspect
OBO:HP_0100025	Overfriendliness	biolink:OntologyClass	hp	UMLS:C4022386	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.	http://purl.obolibrary.org/obo/HP_0100025		Overfriendliness
OBO:HP_0100026	Arteriovenous malformation	biolink:OntologyClass	hp	MSH:D001165|SNOMEDCT_US:234141001|SNOMEDCT_US:24551003|UMLS:C0003857	An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries.	http://purl.obolibrary.org/obo/HP_0100026		
OBO:HP_0100027	Recurrent pancreatitis	biolink:OntologyClass	hp	MSH:D050500|SNOMEDCT_US:233870001|SNOMEDCT_US:234689009|SNOMEDCT_US:235494005|UMLS:C0149521	A recurrent form of pancreatitis.	http://purl.obolibrary.org/obo/HP_0100027		Recurring pancreas inflammation|Recurring pancreatitis
OBO:HP_0100028	Ectopic thyroid	biolink:OntologyClass	hp	MSH:D050033|SNOMEDCT_US:214660000|UMLS:C0266283	Mislocalised thyroid gland.	http://purl.obolibrary.org/obo/HP_0100028		Abnormal thryoid location|Aberrant thyroid|Aberrant thyroid gland|Ectopic thyroid gland|Heteropic thyroid gland
OBO:HP_0100029	Lingual thyroid	biolink:OntologyClass	hp	MSH:D046151|SNOMEDCT_US:129123002|SNOMEDCT_US:21279007|UMLS:C0266284	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.	http://purl.obolibrary.org/obo/HP_0100029		
OBO:HP_0100030	Accessory ectopic thyroid tissue	biolink:OntologyClass	hp	UMLS:C4022385	Accessory ectopic thyroid tissue arising from remnants of the thyroglossal duct anywhere along the path of the thyroglossal duct tract.	http://purl.obolibrary.org/obo/HP_0100030		
OBO:HP_0100031	Neoplasm of the thyroid gland	biolink:OntologyClass	hp	MSH:D013964|NCIT:C3262|SNOMEDCT_US:127018007|UMLS:C0040136	A tumor (abnormal growth of tissue) of the thyroid gland.	http://purl.obolibrary.org/obo/HP_0100031		Neoplasia of the thyroid gland
OBO:HP_0100033	Tics	biolink:OntologyClass	hp	UMLS:C2169806	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.	http://purl.obolibrary.org/obo/HP_0100033		Tic disorder|Tics
OBO:HP_0100034	Motor tics	biolink:OntologyClass	hp	MSH:D020323|UMLS:C0751900	Movement-based tics affecting discrete muscle groups.	http://purl.obolibrary.org/obo/HP_0100034		
OBO:HP_0100035	Phonic tics	biolink:OntologyClass	hp	MSH:D020323|UMLS:C0751901	Involuntary sounds produced by moving air through the nose, mouth, or throat. The vocal cords are not involved in all tics that produce sound.	http://purl.obolibrary.org/obo/HP_0100035		Verbal tics|Vocal tics
OBO:HP_0100036	Pseudo-fractures	biolink:OntologyClass	hp	UMLS:C4021028	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.	http://purl.obolibrary.org/obo/HP_0100036		Looser zones
OBO:HP_0100037	Abnormality of the scalp hair	biolink:OntologyClass	hp	UMLS:C4022384	An abnormality of the hair of head.	http://purl.obolibrary.org/obo/HP_0100037		Abnormality of the scalp hair
OBO:HP_0100038	Slow-growing scalp hair	biolink:OntologyClass	hp	UMLS:C4022383	Scalp hair whose growth is slower than normal.	http://purl.obolibrary.org/obo/HP_0100038		Slow-growing scalp hair
OBO:HP_0100039	Thickened cortex of bones	biolink:OntologyClass	hp	UMLS:C4022382	An Abnormality of cortical bone leading to an abnormal thickness of the cortex of affected bones.	http://purl.obolibrary.org/obo/HP_0100039		
OBO:HP_0100040	Broad 2nd toe	biolink:OntologyClass	hp	UMLS:C4022381	A broad appearance of the second toe.	http://purl.obolibrary.org/obo/HP_0100040		Wide 2nd toe
OBO:HP_0100041	Broad 3rd toe	biolink:OntologyClass	hp	UMLS:C4022380	A broad appearance of the third toe.	http://purl.obolibrary.org/obo/HP_0100041		Broad 3rd toe|Wide 3rd toe
OBO:HP_0100042	Broad 4th toe	biolink:OntologyClass	hp	UMLS:C4022379	A broad appearance of the fourth toe.	http://purl.obolibrary.org/obo/HP_0100042		Broad 4th toe|Wide 4th toe
OBO:HP_0100043	Broad 5th toe	biolink:OntologyClass	hp	UMLS:C4022378	A broad appearance of the fifth toe.	http://purl.obolibrary.org/obo/HP_0100043		Broad 5th toe|Broad little toe|Broad pinkie toe|Broad pinky toe
OBO:HP_0100044	Absent epiphyses of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4022377		http://purl.obolibrary.org/obo/HP_0100044		Absent end part of the 2nd toe bone
OBO:HP_0100045	Bracket epiphyses of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4022376		http://purl.obolibrary.org/obo/HP_0100045		Bracket shaped end part of 2nd toe bone
OBO:HP_0100046	Cone-shaped epiphyses of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4022375		http://purl.obolibrary.org/obo/HP_0100046		Cone-shaped end part of the 2nd toe bone
OBO:HP_0100047	Enlarged epiphyses of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4022374		http://purl.obolibrary.org/obo/HP_0100047		Enlarged end part of the 2nd toe bone
OBO:HP_0100048	Fragmentation of the epiphyses of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4022373		http://purl.obolibrary.org/obo/HP_0100048		Fragmentation of the end part of the 2nd toe bone
OBO:HP_0100049	Irregular epiphyses of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4022372		http://purl.obolibrary.org/obo/HP_0100049		Irregular end part of the 2nd toe bone
OBO:HP_0100050	Ivory epiphyses of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4022371	Epiphyses of the 2nd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.	http://purl.obolibrary.org/obo/HP_0100050		Increased bone density of end part of the 2nd toe
OBO:HP_0100051	Pseudoepiphyses of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4022370		http://purl.obolibrary.org/obo/HP_0100051		
OBO:HP_0100052	Small epiphyses of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4022369		http://purl.obolibrary.org/obo/HP_0100052		Small end part of the 2nd toe bone
OBO:HP_0100053	Stippling of the epiphyses of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4022368	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd toe.	http://purl.obolibrary.org/obo/HP_0100053		Speckled calcifications in the end part of the 2nd toe bone
OBO:HP_0100054	Triangular epiphyses of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4022367		http://purl.obolibrary.org/obo/HP_0100054		Triangular end part of the 2nd toe bone
OBO:HP_0100055	Absent epiphyses of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022366		http://purl.obolibrary.org/obo/HP_0100055		Absent end part of the 3rd toe
OBO:HP_0100056	Bracket epiphyses of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022365		http://purl.obolibrary.org/obo/HP_0100056		Bracket shaped end part of 3rd toe bone
OBO:HP_0100057	Cone-shaped epiphyses of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022364		http://purl.obolibrary.org/obo/HP_0100057		Cone-shaped end part of the 3rd toe bone
OBO:HP_0100058	Enlarged epiphyses of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022363		http://purl.obolibrary.org/obo/HP_0100058		Enlarged end part of the 3rd toe bone
OBO:HP_0100059	Fragmentation of the epiphyses of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022362		http://purl.obolibrary.org/obo/HP_0100059		Fragmentation of the end part of the 3rd toe bone
OBO:HP_0100060	Irregular epiphyses of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022361		http://purl.obolibrary.org/obo/HP_0100060		Irregular end part of the 3rd toe bone
OBO:HP_0100061	Ivory epiphyses of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022360	Epiphyses of the 3rd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.	http://purl.obolibrary.org/obo/HP_0100061		Increased bone density of end part of the 3rd toe bone
OBO:HP_0100062	Pseudoepiphyses of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022359		http://purl.obolibrary.org/obo/HP_0100062		
OBO:HP_0100063	Small epiphyses of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022358		http://purl.obolibrary.org/obo/HP_0100063		Small end part of the 3rd toe bone
OBO:HP_0100064	Stippling of the epiphyses of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022357	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd toe.	http://purl.obolibrary.org/obo/HP_0100064		Speckled calcifications in the end part of the 3rd toe bone
OBO:HP_0100065	Triangular epiphyses of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022356		http://purl.obolibrary.org/obo/HP_0100065		Triangular end part of the 3rd toe bone
OBO:HP_0100066	Absent epiphyses of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022355		http://purl.obolibrary.org/obo/HP_0100066		Absent end part of the 4th toe bone
OBO:HP_0100067	Bracket epiphyses of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022354		http://purl.obolibrary.org/obo/HP_0100067		Bracket shaped end part of 4th toe bone
OBO:HP_0100068	Cone-shaped epiphyses of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022353		http://purl.obolibrary.org/obo/HP_0100068		Cone-shaped end part of the 4th toe bone
OBO:HP_0100069	Enlarged epiphyses of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022352		http://purl.obolibrary.org/obo/HP_0100069		Enlarged end part of the 4th toe bone
OBO:HP_0100070	Fragmentation of the epiphyses of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022351		http://purl.obolibrary.org/obo/HP_0100070		Fragmentation of the end part of the 4th toe bone
OBO:HP_0100071	Irregular epiphyses of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022350		http://purl.obolibrary.org/obo/HP_0100071		Irregular end part of the 4th toe bone
OBO:HP_0100072	Ivory epiphyses of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022349	Epiphyses of the 4th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.	http://purl.obolibrary.org/obo/HP_0100072		Increased bone density of end part of the 4th toe bone
OBO:HP_0100073	Pseudoepiphyses of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022348		http://purl.obolibrary.org/obo/HP_0100073		
OBO:HP_0100074	Small epiphyses of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022347		http://purl.obolibrary.org/obo/HP_0100074		Small end part of the 4th toe bone
OBO:HP_0100075	Stippling of the epiphyses of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022346	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th toe.	http://purl.obolibrary.org/obo/HP_0100075		Speckled calcifications in the end part of the 4th toe bone
OBO:HP_0100076	Triangular epiphyses of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022345		http://purl.obolibrary.org/obo/HP_0100076		Triangular end part of the 4th toe bone
OBO:HP_0100077	Absent epiphyses of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022344		http://purl.obolibrary.org/obo/HP_0100077		Absent end part of the little toe bone|Absent end part of the pinkie toe bone|Absent end part of the pinky toe bone
OBO:HP_0100078	Bracket epiphyses of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022343		http://purl.obolibrary.org/obo/HP_0100078		Bracket shaped end part of little toe bone|Bracket shaped end part of pinkie toe bone|Bracket shaped end part of pinky toe bone
OBO:HP_0100079	Cone-shaped epiphyses of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022342		http://purl.obolibrary.org/obo/HP_0100079		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
OBO:HP_0100080	Enlarged epiphyses of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022341		http://purl.obolibrary.org/obo/HP_0100080		Enlarged end part of the little toe bone|Enlarged end part of the pinkie toe bone|Enlarged end part of the pinky toe bone
OBO:HP_0100081	Fragmentation of the epiphyses of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022340		http://purl.obolibrary.org/obo/HP_0100081		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
OBO:HP_0100082	Irregular epiphyses of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022339		http://purl.obolibrary.org/obo/HP_0100082		Irregular end part of the little toe bone|Irregular end part of the pinkie toe bone|Irregular end part of the pinky toe bone
OBO:HP_0100083	Ivory epiphyses of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022338	Epiphyses of the 5th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.	http://purl.obolibrary.org/obo/HP_0100083		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
OBO:HP_0100084	Pseudoepiphyses of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022337		http://purl.obolibrary.org/obo/HP_0100084		
OBO:HP_0100085	Small epiphyses of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022336		http://purl.obolibrary.org/obo/HP_0100085		Small end part of the little toe bone|Small end part of the pinkie toe bone|Small end part of the pinky toe bone
OBO:HP_0100086	Stippling of the epiphyses of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022335	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th toe.	http://purl.obolibrary.org/obo/HP_0100086		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
OBO:HP_0100087	Triangular epiphyses of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022334		http://purl.obolibrary.org/obo/HP_0100087		Triangular end part of the little toe bone|Triangular end part of the pinkie toe bone|Triangular end part of the pinky toe bone
OBO:HP_0100088	Abnormality of the epiphysis of the distal phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4022333		http://purl.obolibrary.org/obo/HP_0100088		Abnormality of the end part of the outermost bone of the 2nd toe
OBO:HP_0100089	Abnormality of the epiphysis of the middle phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4022332		http://purl.obolibrary.org/obo/HP_0100089		Abnormality of the end part of the middle bone of the 2nd toe
OBO:HP_0100090	Abnormality of the epiphysis of the proximal phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4022331		http://purl.obolibrary.org/obo/HP_0100090		Abnormality of the end part of the innermost bone of the 2nd toe
OBO:HP_0100091	Abnormality of the epiphysis of the distal phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022330		http://purl.obolibrary.org/obo/HP_0100091		Abnormality of the end part of the outermost bone of the 3rd toe
OBO:HP_0100092	Abnormality of the epiphysis of the middle phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022329		http://purl.obolibrary.org/obo/HP_0100092		Abnormality of the end part of the middle bone of the 3rd toe
OBO:HP_0100093	Abnormality of the epiphysis of the proximal phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022328		http://purl.obolibrary.org/obo/HP_0100093		Abnormality of the end part of the innermost bone of the 3rd toe
OBO:HP_0100094	Abnormality of the epiphysis of the distal phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022327		http://purl.obolibrary.org/obo/HP_0100094		Abnormality of the end part of the outermost bone of the 4th toe
OBO:HP_0100095	Abnormality of the epiphysis of the middle phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022326		http://purl.obolibrary.org/obo/HP_0100095		Abnormality of the end part of the middle bone of the 4th toe
OBO:HP_0100096	Abnormality of the epiphysis of the proximal phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022325		http://purl.obolibrary.org/obo/HP_0100096		Abnormality of the end part of the innermost bone of the 4th toe
OBO:HP_0100097	Abnormality of the epiphysis of the distal phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022324		http://purl.obolibrary.org/obo/HP_0100097		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
OBO:HP_0100098	Abnormality of the epiphysis of the middle phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022323		http://purl.obolibrary.org/obo/HP_0100098		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
OBO:HP_0100099	Abnormality of the epiphysis of the proximal phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022322		http://purl.obolibrary.org/obo/HP_0100099		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
OBO:HP_0100100	Absent epiphysis of the distal phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4022321		http://purl.obolibrary.org/obo/HP_0100100		Absent end part of the outermost bone of the 2nd toe
OBO:HP_0100101	Bracket epiphysis of the distal phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4022320		http://purl.obolibrary.org/obo/HP_0100101		Bracket shaped end part of the outermost bone of the 2nd toe
OBO:HP_0100102	Cone-shaped epiphysis of the distal phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4022319		http://purl.obolibrary.org/obo/HP_0100102		Cone-shaped end part of the outermost bone of the 2nd toe
OBO:HP_0100103	Enlarged epiphysis of the distal phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4022318		http://purl.obolibrary.org/obo/HP_0100103		Enlarged end part of the outermost bone of the 2nd toe
OBO:HP_0100104	Fragmentation of the epiphysis of the distal phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4022317		http://purl.obolibrary.org/obo/HP_0100104		Fragmentation of the end part of the outermost bone of the 2nd toe
OBO:HP_0100105	Irregular epiphysis of the distal phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4022316		http://purl.obolibrary.org/obo/HP_0100105		Irregular end part of the outermost bone of the 2nd toe
OBO:HP_0100106	Ivory epiphysis of the distal phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4022315		http://purl.obolibrary.org/obo/HP_0100106		Increased bone density of end part of the outermost bone of the 2nd toe
OBO:HP_0100107	Pseudoepiphysis of the distal phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4022314		http://purl.obolibrary.org/obo/HP_0100107		
OBO:HP_0100108	Small epiphysis of the distal phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4022313		http://purl.obolibrary.org/obo/HP_0100108		Small end part of the outermost bone of the 2nd toe
OBO:HP_0100109	Stippling of the epiphysis of the distal phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4022312	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd toe.	http://purl.obolibrary.org/obo/HP_0100109		Speckled calcifications in the end part of the outermost bone of the 2nd toe
OBO:HP_0100110	Triangular epiphysis of the distal phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4022311		http://purl.obolibrary.org/obo/HP_0100110		Triangular end part of the outermost bone of the 2nd toe
OBO:HP_0100111	Absent epiphysis of the middle phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4022310		http://purl.obolibrary.org/obo/HP_0100111		Absent end part of the middle bone of the 2nd toe
OBO:HP_0100112	Bracket epiphysis of the middle phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4022309		http://purl.obolibrary.org/obo/HP_0100112		Bracket shaped end part of the middle bone of the 2nd toe
OBO:HP_0100113	Cone-shaped epiphysis of the middle phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4022308		http://purl.obolibrary.org/obo/HP_0100113		Cone-shaped end part of the middle bone of the 2nd toe
OBO:HP_0100114	Enlarged epiphysis of the middle phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4022307		http://purl.obolibrary.org/obo/HP_0100114		Enlarged end part of the middle bone of the 2nd toe
OBO:HP_0100115	Fragmentation of the epiphysis of the middle phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4022306		http://purl.obolibrary.org/obo/HP_0100115		Fragmentation of the end part of the middle bone of the 2nd toe
OBO:HP_0100116	Irregular epiphysis of the middle phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4022305		http://purl.obolibrary.org/obo/HP_0100116		Irregular end part of the middle bone of the 2nd toe
OBO:HP_0100117	Ivory epiphysis of the middle phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4022304		http://purl.obolibrary.org/obo/HP_0100117		Increased bone density of end part of the middle bone of the 2nd toe
OBO:HP_0100118	Pseudoepiphysis of the middle phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4022303		http://purl.obolibrary.org/obo/HP_0100118		
OBO:HP_0100119	Small epiphysis of the middle phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4022302		http://purl.obolibrary.org/obo/HP_0100119		Small end part of the middle bone of the 2nd toe
OBO:HP_0100120	Stippling of the epiphysis of the middle phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4022301	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 2nd toe.	http://purl.obolibrary.org/obo/HP_0100120		Speckled calcifications in of the end part of the middle bone of the 2nd toe
OBO:HP_0100121	Triangular epiphysis of the middle phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4022300		http://purl.obolibrary.org/obo/HP_0100121		Triangular end part of the middle bone of the 2nd toe
OBO:HP_0100122	Absent epiphysis of the proximal phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4022299		http://purl.obolibrary.org/obo/HP_0100122		Absent end part of the innermost bone of the 2nd toe
OBO:HP_0100123	Bracket epiphysis of the proximal phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4022298		http://purl.obolibrary.org/obo/HP_0100123		Bracket shaped end part of the innermost bone of the 2nd toe
OBO:HP_0100124	Cone-shaped epiphysis of the proximal phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4022297		http://purl.obolibrary.org/obo/HP_0100124		Cone-shaped end part of the innermost bone of the 2nd toe
OBO:HP_0100125	Enlarged epiphysis of the proximal phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4022296		http://purl.obolibrary.org/obo/HP_0100125		Enlarged end part of the innermost bone of the 2nd toe
OBO:HP_0100126	Fragmentation of the epiphysis of the proximal phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4022295		http://purl.obolibrary.org/obo/HP_0100126		Fragmentation of the end part of the innermost bone of the 2nd toe
OBO:HP_0100127	Irregular epiphysis of the proximal phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4022294		http://purl.obolibrary.org/obo/HP_0100127		Irregular end part of the innermost bone of the 2nd toe
OBO:HP_0100128	Ivory epiphysis of the proximal phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4022293		http://purl.obolibrary.org/obo/HP_0100128		Increased bone density of end part of the innermost bone of the 2nd toe
OBO:HP_0100129	Pseudoepiphysis of the proximal phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4022292		http://purl.obolibrary.org/obo/HP_0100129		
OBO:HP_0100130	Small epiphysis of the proximal phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4022291		http://purl.obolibrary.org/obo/HP_0100130		Small end part of the innermost bone of the 2nd toe
OBO:HP_0100131	Stippling of the epiphysis of the proximal phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4022290	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 2nd toe.	http://purl.obolibrary.org/obo/HP_0100131		Speckled calcifications in the end part of the innermost bone of the 2nd toe
OBO:HP_0100132	Triangular epiphysis of the proximal phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4022289		http://purl.obolibrary.org/obo/HP_0100132		Triangular end part of the innermost bone of the 2nd toe
OBO:HP_0100133	Abnormality of the pubic hair	biolink:OntologyClass	hp	UMLS:C4022288	Abnormality of the growth of the pubic hair. Pubic hair is part of the secondary sexual hair, which normally ensues during puberty.	http://purl.obolibrary.org/obo/HP_0100133		Abnormality of the pubic hair
OBO:HP_0100134	Abnormality of the axillary hair	biolink:OntologyClass	hp	UMLS:C4022287	Abnormality of the growth of the axillary hair. Axillary hair is part of the secondary sexual hair, which normally ensues during puberty.	http://purl.obolibrary.org/obo/HP_0100134		
OBO:HP_0100135	Absent epiphysis of the distal phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022286		http://purl.obolibrary.org/obo/HP_0100135		Absent end part of the outermost bone of the 3rd toe
OBO:HP_0100136	Bracket epiphysis of the distal phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022285		http://purl.obolibrary.org/obo/HP_0100136		Bracket shaped end part of the outermost bone of the 3rd toe
OBO:HP_0100137	Cone-shaped epiphysis of the distal phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022284		http://purl.obolibrary.org/obo/HP_0100137		Cone-shaped end part of the outermost bone of the 3rd toe
OBO:HP_0100138	Enlarged epiphysis of the distal phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022283		http://purl.obolibrary.org/obo/HP_0100138		Enlarged end part of the outermost bone of the 3rd toe
OBO:HP_0100139	Fragmentation of the epiphysis of the distal phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022282		http://purl.obolibrary.org/obo/HP_0100139		Fragmentation of the end part of the outermost bone of the 3rd toe
OBO:HP_0100140	Irregular epiphysis of the distal phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022281		http://purl.obolibrary.org/obo/HP_0100140		Irregular end part of the outermost bone of the 3rd toe
OBO:HP_0100141	Ivory epiphysis of the distal phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022280		http://purl.obolibrary.org/obo/HP_0100141		Increased bone density of end part of the outermost bone of the 3rd toe
OBO:HP_0100142	Pseudoepiphysis of the distal phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022279		http://purl.obolibrary.org/obo/HP_0100142		
OBO:HP_0100143	Small epiphysis of the distal phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022278		http://purl.obolibrary.org/obo/HP_0100143		Small end part of the outermost bone of the 3rd toe
OBO:HP_0100144	Stippling of the epiphysis of the distal phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022277	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 3rd toe.	http://purl.obolibrary.org/obo/HP_0100144		Speckled calcifications in the end part of the outermost bone of the 3rd toe
OBO:HP_0100145	Triangular epiphysis of the distal phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022276		http://purl.obolibrary.org/obo/HP_0100145		Triangular end part of the outermost bone of the 3rd toe
OBO:HP_0100146	Absent epiphysis of the middle phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022275		http://purl.obolibrary.org/obo/HP_0100146		Absent end part of the middle bone of the 3rd toe
OBO:HP_0100147	Bracket epiphysis of the middle phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022274		http://purl.obolibrary.org/obo/HP_0100147		Bracket shaped end part of the middle bone of 3rd toe
OBO:HP_0100148	Cone-shaped epiphysis of the middle phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022273		http://purl.obolibrary.org/obo/HP_0100148		Cone-shaped end part of the middle bone of the 3rd toe
OBO:HP_0100149	Enlarged epiphysis of the middle phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022272		http://purl.obolibrary.org/obo/HP_0100149		Enlarged end part of the middle bone of the 3rd toe
OBO:HP_0100150	Fragmentation of the epiphysis of the middle phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022271		http://purl.obolibrary.org/obo/HP_0100150		Fragmentation of the end part of the middle bone of the 3rd toe
OBO:HP_0100151	Irregular epiphysis of the middle phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022270		http://purl.obolibrary.org/obo/HP_0100151		Irregular end part of the middle bone of the 3rd toe
OBO:HP_0100152	Ivory epiphysis of the middle phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022269		http://purl.obolibrary.org/obo/HP_0100152		Increased bone density of end part of the middle bone of the 3rd toe
OBO:HP_0100153	Pseudoepiphysis of the middle phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022268		http://purl.obolibrary.org/obo/HP_0100153		
OBO:HP_0100154	Small epiphysis of the middle phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022267		http://purl.obolibrary.org/obo/HP_0100154		Small end part of the middle bone of the 3rd toe
OBO:HP_0100155	Stippling of the epiphysis of the middle phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022266	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 3rd toe.	http://purl.obolibrary.org/obo/HP_0100155		Speckled calcifications in the end part of the middle bone of the 3rd toe
OBO:HP_0100156	Triangular epiphysis of the middle phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022265		http://purl.obolibrary.org/obo/HP_0100156		Triangular end part of the middle bone of the 3rd toe
OBO:HP_0100157	Absent epiphysis of the proximal phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022264		http://purl.obolibrary.org/obo/HP_0100157		Absent end part of the innermost bone of the 3rd toe
OBO:HP_0100158	Bracket epiphysis of the proximal phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022263		http://purl.obolibrary.org/obo/HP_0100158		Bracket shaped end part of the innermost bone of 3rd toe
OBO:HP_0100159	Cone-shaped epiphysis of the proximal phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022262		http://purl.obolibrary.org/obo/HP_0100159		Cone-shaped end part of the innermost bone of the 3rd toe
OBO:HP_0100160	Enlarged epiphysis of the proximal phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022261		http://purl.obolibrary.org/obo/HP_0100160		Enlarged end part of the innermost bone of the 3rd toe
OBO:HP_0100161	Fragmentation of the epiphysis of the proximal phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022260		http://purl.obolibrary.org/obo/HP_0100161		Fragmentation of the end part of the innermost bone of the 3rd toe
OBO:HP_0100162	Irregular epiphysis of the proximal phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022259		http://purl.obolibrary.org/obo/HP_0100162		Irregular end part of the innermost bone of the 3rd toe
OBO:HP_0100163	Ivory epiphysis of the proximal phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022258		http://purl.obolibrary.org/obo/HP_0100163		Increased bone density of end part of the innermost bone of the 3rd toe
OBO:HP_0100164	Pseudoepiphysis of the proximal phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022257		http://purl.obolibrary.org/obo/HP_0100164		
OBO:HP_0100165	Small epiphysis of the proximal phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022256		http://purl.obolibrary.org/obo/HP_0100165		Small end part of the innermost bone of the 3rd toe
OBO:HP_0100166	Stippling of the epiphysis of the proximal phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022255	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 3rd toe.	http://purl.obolibrary.org/obo/HP_0100166		Speckled calcifications in of the end part of the innermost bone of the 3rd toe
OBO:HP_0100167	Triangular epiphysis of the proximal phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022254		http://purl.obolibrary.org/obo/HP_0100167		Triangular end part of the innermost bone of the 3rd toe
OBO:HP_0100168	Fragmented epiphyses	biolink:OntologyClass	hp	UMLS:C4022253	Fragmented appearance of the epiphyses.	http://purl.obolibrary.org/obo/HP_0100168		Fragmented end part of bone
OBO:HP_0100169	Absent epiphysis of the distal phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022252		http://purl.obolibrary.org/obo/HP_0100169		Absent end part of the outermost bone of the 4th toe
OBO:HP_0100170	Bracket epiphysis of the distal phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022251		http://purl.obolibrary.org/obo/HP_0100170		Bracket shaped end part of the outermost bone of the 4th toe
OBO:HP_0100171	Cone-shaped epiphysis of the distal phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022250		http://purl.obolibrary.org/obo/HP_0100171		Cone-shaped end part of the outermost bone of the 4th toe
OBO:HP_0100172	Enlarged epiphysis of the distal phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022249		http://purl.obolibrary.org/obo/HP_0100172		Enlarged end part of the outermost bone of the 4th toe
OBO:HP_0100173	Fragmentation of the epiphysis of the distal phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022248		http://purl.obolibrary.org/obo/HP_0100173		Fragmentation of the end part of the outermost bone of the 4th toe
OBO:HP_0100174	Irregular epiphysis of the distal phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022247		http://purl.obolibrary.org/obo/HP_0100174		Irregular end part of the outermost bone of the 4th toe
OBO:HP_0100175	Ivory epiphysis of the distal phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022246		http://purl.obolibrary.org/obo/HP_0100175		Increased bone density of end part of the outermost bone of the 4th toe
OBO:HP_0100176	Pseudoepiphysis of the distal phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022245		http://purl.obolibrary.org/obo/HP_0100176		
OBO:HP_0100177	Small epiphysis of the distal phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022244		http://purl.obolibrary.org/obo/HP_0100177		Small end part of the outermost bone of the 4th toe
OBO:HP_0100178	Stippling of the epiphysis of the distal phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022243	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 4th toe.	http://purl.obolibrary.org/obo/HP_0100178		Speckled calcifications in the end part of the outermost bone of the 4th toe
OBO:HP_0100179	Triangular epiphysis of the distal phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022242		http://purl.obolibrary.org/obo/HP_0100179		Triangular end part of the outermost bone of the 4th toe
OBO:HP_0100180	Absent epiphysis of the middle phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022241		http://purl.obolibrary.org/obo/HP_0100180		Absent end part of the middle bone of the 4th toe
OBO:HP_0100181	Bracket epiphysis of the middle phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022240		http://purl.obolibrary.org/obo/HP_0100181		Bracket shaped end part of the middle bone of the 4th toe
OBO:HP_0100182	Cone-shaped epiphysis of the middle phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022239		http://purl.obolibrary.org/obo/HP_0100182		Cone-shaped end part of the middle bone of the 4th toe
OBO:HP_0100183	Enlarged epiphysis of the middle phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022238		http://purl.obolibrary.org/obo/HP_0100183		Enlarged end part of the middle bone of the 4th toe
OBO:HP_0100184	Fragmentation of the epiphysis of the middle phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022237		http://purl.obolibrary.org/obo/HP_0100184		Fragmentation of the end part of the middle bone of the 4th toe
OBO:HP_0100185	Irregular epiphysis of the middle phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022236		http://purl.obolibrary.org/obo/HP_0100185		Irregular end part of the middle bone of the 4th toe
OBO:HP_0100186	Ivory epiphysis of the middle phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022235		http://purl.obolibrary.org/obo/HP_0100186		Increased bone density of end part of the middle bone of the 4th toe
OBO:HP_0100187	Pseudoepiphysis of the middle phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022234		http://purl.obolibrary.org/obo/HP_0100187		
OBO:HP_0100188	Small epiphysis of the middle phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022233		http://purl.obolibrary.org/obo/HP_0100188		Small end part of middle long bone of 4th toe
OBO:HP_0100189	Stippling of the epiphysis of the middle phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022232	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 4th toe.	http://purl.obolibrary.org/obo/HP_0100189		Speckled calcifications in the end part of the middle bone of the 4th toe
OBO:HP_0100190	Triangular epiphysis of the middle phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022231		http://purl.obolibrary.org/obo/HP_0100190		Triangular end part of the middle bone of the 4th toe
OBO:HP_0100191	Absent epiphysis of the proximal phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022230		http://purl.obolibrary.org/obo/HP_0100191		Absent end part of the innermost bone of the 4th toe
OBO:HP_0100192	Bracket epiphysis of the proximal phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022229		http://purl.obolibrary.org/obo/HP_0100192		Bracket shaped end part of the innermost bone of 4th toe
OBO:HP_0100193	Cone-shaped epiphysis of the proximal phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022228		http://purl.obolibrary.org/obo/HP_0100193		Cone-shaped end part of the innermost bone of the 4th toe
OBO:HP_0100194	Enlarged epiphysis of the proximal phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022227		http://purl.obolibrary.org/obo/HP_0100194		Enlarged end part of the innermost bone of the 4th toe
OBO:HP_0100195	Fragmentation of the epiphysis of the proximal phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022226		http://purl.obolibrary.org/obo/HP_0100195		Fragmentation of the end part of the innermost bone of the 4th toe
OBO:HP_0100196	Irregular epiphysis of the proximal phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022225		http://purl.obolibrary.org/obo/HP_0100196		Irregular end part of the innermost bone of the 4th toe
OBO:HP_0100197	Ivory epiphysis of the proximal phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022224		http://purl.obolibrary.org/obo/HP_0100197		Increased bone density of end part of the innermost bone of the 4th toe
OBO:HP_0100198	Pseudoepiphysis of the proximal phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022223		http://purl.obolibrary.org/obo/HP_0100198		
OBO:HP_0100199	Small epiphysis of the proximal phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022222		http://purl.obolibrary.org/obo/HP_0100199		Small end part of the innermost bone of the 4th toe
OBO:HP_0100200	Stippling of the epiphysis of the proximal phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022221	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 4th toe.	http://purl.obolibrary.org/obo/HP_0100200		Speckled calcifications in the end part of the innermost bone of the 4th toe
OBO:HP_0100201	Triangular epiphysis of the proximal phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022220		http://purl.obolibrary.org/obo/HP_0100201		Triangular end part of the innermost bone of the 4th toe
OBO:HP_0100202	Absent epiphysis of the distal phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022219		http://purl.obolibrary.org/obo/HP_0100202		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
OBO:HP_0100203	Bracket epiphysis of the distal phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022218		http://purl.obolibrary.org/obo/HP_0100203		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
OBO:HP_0100204	Cone-shaped epiphysis of the distal phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022217		http://purl.obolibrary.org/obo/HP_0100204		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
OBO:HP_0100205	Enlarged epiphysis of the distal phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022216		http://purl.obolibrary.org/obo/HP_0100205		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
OBO:HP_0100206	Fragmentation of the epiphysis of the distal phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022215		http://purl.obolibrary.org/obo/HP_0100206		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
OBO:HP_0100207	Irregular epiphysis of the distal phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022214		http://purl.obolibrary.org/obo/HP_0100207		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
OBO:HP_0100208	Ivory epiphysis of the distal phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022213		http://purl.obolibrary.org/obo/HP_0100208		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
OBO:HP_0100209	Pseudoepiphysis of the distal phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022212		http://purl.obolibrary.org/obo/HP_0100209		
OBO:HP_0100210	Small epiphysis of the distal phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022211		http://purl.obolibrary.org/obo/HP_0100210		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
OBO:HP_0100211	Stippling of the epiphysis of the distal phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022210	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 5th toe.	http://purl.obolibrary.org/obo/HP_0100211		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
OBO:HP_0100212	Triangular epiphysis of the distal phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022209		http://purl.obolibrary.org/obo/HP_0100212		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
OBO:HP_0100213	Absent epiphysis of the middle phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022208		http://purl.obolibrary.org/obo/HP_0100213		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
OBO:HP_0100214	Bracket epiphysis of the middle phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022207		http://purl.obolibrary.org/obo/HP_0100214		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
OBO:HP_0100215	Cone-shaped epiphysis of the middle phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022206		http://purl.obolibrary.org/obo/HP_0100215		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
OBO:HP_0100216	Enlarged epiphysis of the middle phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022205		http://purl.obolibrary.org/obo/HP_0100216		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
OBO:HP_0100217	Fragmentation of the epiphysis of the middle phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022204		http://purl.obolibrary.org/obo/HP_0100217		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
OBO:HP_0100218	Irregular epiphysis of the middle phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022203		http://purl.obolibrary.org/obo/HP_0100218		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
OBO:HP_0100219	Ivory epiphysis of the middle phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022202		http://purl.obolibrary.org/obo/HP_0100219		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
OBO:HP_0100220	Pseudoepiphysis of the middle phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022201		http://purl.obolibrary.org/obo/HP_0100220		
OBO:HP_0100221	Small epiphysis of the middle phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022200		http://purl.obolibrary.org/obo/HP_0100221		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
OBO:HP_0100222	Stippling of the epiphysis of the middle phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022199	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 5th toe.	http://purl.obolibrary.org/obo/HP_0100222		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
OBO:HP_0100223	Triangular epiphysis of the middle phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022198		http://purl.obolibrary.org/obo/HP_0100223		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
OBO:HP_0100224	Absent epiphysis of the proximal phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022197		http://purl.obolibrary.org/obo/HP_0100224		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
OBO:HP_0100225	Bracket epiphysis of the proximal phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022196		http://purl.obolibrary.org/obo/HP_0100225		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
OBO:HP_0100226	Cone-shaped epiphysis of the proximal phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022195		http://purl.obolibrary.org/obo/HP_0100226		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
OBO:HP_0100227	Enlarged epiphysis of the proximal phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022194		http://purl.obolibrary.org/obo/HP_0100227		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
OBO:HP_0100228	Fragmentation of the epiphysis of the proximal phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022193		http://purl.obolibrary.org/obo/HP_0100228		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
OBO:HP_0100229	Irregular epiphysis of the proximal phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022192		http://purl.obolibrary.org/obo/HP_0100229		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
OBO:HP_0100230	Ivory epiphysis of the proximal phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022191		http://purl.obolibrary.org/obo/HP_0100230		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
OBO:HP_0100231	Pseudoepiphysis of the proximal phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022190		http://purl.obolibrary.org/obo/HP_0100231		
OBO:HP_0100232	Small epiphysis of the proximal phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022189		http://purl.obolibrary.org/obo/HP_0100232		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
OBO:HP_0100233	Stippling of the epiphysis of the proximal phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022188	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 5th toe.	http://purl.obolibrary.org/obo/HP_0100233		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
OBO:HP_0100234	Triangular epiphysis of the proximal phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022187		http://purl.obolibrary.org/obo/HP_0100234		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
OBO:HP_0100235	Synostosis involving bones of the toes	biolink:OntologyClass	hp	UMLS:C4022186		http://purl.obolibrary.org/obo/HP_0100235		Fusion involving bones of the toes
OBO:HP_0100237	Proximal foot symphalangism	biolink:OntologyClass	hp	UMLS:C4022185		http://purl.obolibrary.org/obo/HP_0100237		
OBO:HP_0100238	Synostosis involving bones of the upper limbs	biolink:OntologyClass	hp	UMLS:C4022184	An abnormal union between bones or parts of bones of the upper limbs.	http://purl.obolibrary.org/obo/HP_0100238		Fusion involving bones of the upper limbs
OBO:HP_0100240	Synostosis of joints	biolink:OntologyClass	hp	UMLS:C4022183	The abnormal fusion of neighboring bones across a joint.	http://purl.obolibrary.org/obo/HP_0100240		Fusion of joints|Bony ankylosis
OBO:HP_0100241	Ectopic respiratory mucosa	biolink:OntologyClass	hp	UMLS:C4022182	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.	http://purl.obolibrary.org/obo/HP_0100241		
OBO:HP_0100242	Sarcoma	biolink:OntologyClass	hp	MSH:D012509|NCIT:C9118|SNOMEDCT_US:2424003|SNOMEDCT_US:269469005|SNOMEDCT_US:424413001|SNOMEDCT_US:424952003|UMLS:C1261473	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.	http://purl.obolibrary.org/obo/HP_0100242		Cancer of connective tissue|Malignant connective tissue tumor
OBO:HP_0100243	Leiomyosarcoma	biolink:OntologyClass	hp	MSH:D007890|NCIT:C3158|SNOMEDCT_US:443719001|SNOMEDCT_US:51549004|UMLS:C0023269	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.	http://purl.obolibrary.org/obo/HP_0100243		
OBO:HP_0100244	Fibrosarcoma	biolink:OntologyClass	hp	MSH:D005354|NCIT:C6605|SNOMEDCT_US:443250000|SNOMEDCT_US:53654007|UMLS:C0016057	A fibroblastic sarcoma is a malignant tumor derived from fibrous connective tissue and characterized by immature proliferating fibroblasts or undifferentiated anaplastic spindle cells.	http://purl.obolibrary.org/obo/HP_0100244		
OBO:HP_0100245	Desmoid tumors	biolink:OntologyClass	hp	MSH:D018222|NCIT:C3042|SNOMEDCT_US:399994005|SNOMEDCT_US:400055004|SNOMEDCT_US:47284001|UMLS:C0079218	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.	http://purl.obolibrary.org/obo/HP_0100245		Desmoid tumours
OBO:HP_0100246	Osteoma	biolink:OntologyClass	hp	MSH:D010016|NCIT:C3296|SNOMEDCT_US:302858007|SNOMEDCT_US:83612000|UMLS:C0029440	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.	http://purl.obolibrary.org/obo/HP_0100246		
OBO:HP_0100247	Recurrent singultus	biolink:OntologyClass	hp	MSH:D006606|SNOMEDCT_US:65958008|UMLS:C0019521|UMLS:C0744897	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.	http://purl.obolibrary.org/obo/HP_0100247		Recurrent hiccup|Hiccup|Recurrent hiccough|Recurrent synchronous diaphragmatic flutter|Hiccups
OBO:HP_0100248	Hemiballismus	biolink:OntologyClass	hp	MSH:D020820|SNOMEDCT_US:66637005|UMLS:C0221169	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.	http://purl.obolibrary.org/obo/HP_0100248		Ballismus
OBO:HP_0100249	Calcification of muscles	biolink:OntologyClass	hp	SNOMEDCT_US:446993003|UMLS:C2960760	Deposition of calcium salts in muscle tissue.	http://purl.obolibrary.org/obo/HP_0100249		Skeletal muscle calcinosis
OBO:HP_0100250	Meningeal calcification	biolink:OntologyClass	hp	UMLS:C4022181	Calcium deposition affecting the Meninges.	http://purl.obolibrary.org/obo/HP_0100250		
OBO:HP_0100251	Multiple central nervous system lipomas	biolink:OntologyClass	hp	NCIT:C3192|UMLS:C4022180	The presence of mulitple lipomas located in the central nervous system.	http://purl.obolibrary.org/obo/HP_0100251		Lipomas of the central nervous system
OBO:HP_0100252	Diaphyseal dysplasia	biolink:OntologyClass	hp	MSH:D003966|SNOMEDCT_US:318761000119105|SNOMEDCT_US:34643004|UMLS:C0011989		http://purl.obolibrary.org/obo/HP_0100252		
OBO:HP_0100253	Abnormality of the medullary cavity of the long bones	biolink:OntologyClass	hp	UMLS:C4021027	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.	http://purl.obolibrary.org/obo/HP_0100253		Abnormality of the marrow cavity of the long bones
OBO:HP_0100254	Stenosis of the medullary cavity of the long bones	biolink:OntologyClass	hp	UMLS:C4022179		http://purl.obolibrary.org/obo/HP_0100254		
OBO:HP_0100255	Metaphyseal dysplasia	biolink:OntologyClass	hp	MSH:C536252|SNOMEDCT_US:27837003|UMLS:C0265294	The presence of dysplastic regions in metaphyseal regions.	http://purl.obolibrary.org/obo/HP_0100255		
OBO:HP_0100256	Senile plaques	biolink:OntologyClass	hp	MSH:D058225|SNOMEDCT_US:38551001|UMLS:C0333463	Senile plaques are extracellular deposits of amyloid in the gray matter of the brain.	http://purl.obolibrary.org/obo/HP_0100256		Braindruse|Neuritic plaques|Senile druse
OBO:HP_0100257	Ectrodactyly	biolink:OntologyClass	hp	MSH:C574275|SNOMEDCT_US:13624003|SNOMEDCT_US:81208006|UMLS:C0265554	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.	http://purl.obolibrary.org/obo/HP_0100257	hposlim_core	Cleft hand|Lobster claw hand
OBO:HP_0100258	Preaxial polydactyly	biolink:OntologyClass	hp	SNOMEDCT_US:205135003|UMLS:C0345354	A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe.	http://purl.obolibrary.org/obo/HP_0100258		Polydactyly, preaxial
OBO:HP_0100259	Postaxial polydactyly	biolink:OntologyClass	hp	MSH:C562429|UMLS:C0220697	A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe.	http://purl.obolibrary.org/obo/HP_0100259		Polydactyly, postaxial|Postaxial hexadactyly
OBO:HP_0100260	Mesoaxial polydactyly	biolink:OntologyClass	hp	UMLS:C1848595|UMLS:C4020689	The presence of a supernumerary finger or toe (not a thumb or hallux) involving the third or fourth metacarpal/tarsal with associated osseous syndactyly.	http://purl.obolibrary.org/obo/HP_0100260		Central polydactyly|Intercalary polydactyly|Insertional polydactyly
OBO:HP_0100261	Abnormal tendon morphology	biolink:OntologyClass	hp	UMLS:C4021026	An abnormality of the structure or form of the tendons, also often called sinews.	http://purl.obolibrary.org/obo/HP_0100261		Abnormal shape of tendon|Abnormality of the sinew
OBO:HP_0100262	Synostosis involving digits	biolink:OntologyClass	hp	UMLS:C4022178		http://purl.obolibrary.org/obo/HP_0100262		Fusion involving digits
OBO:HP_0100263	Distal symphalangism	biolink:OntologyClass	hp	MSH:C566099|UMLS:C1861401		http://purl.obolibrary.org/obo/HP_0100263		Symphalangism, distal
OBO:HP_0100264	Proximal symphalangism	biolink:OntologyClass	hp	MSH:C536223|UMLS:C1861385		http://purl.obolibrary.org/obo/HP_0100264		Cushing's symphalangism
OBO:HP_0100265	Synostosis of metacarpals/metatarsals	biolink:OntologyClass	hp	UMLS:C4022177		http://purl.obolibrary.org/obo/HP_0100265		Fusion of long bones of hand/long bones of foot
OBO:HP_0100266	Synostosis of carpals/tarsals	biolink:OntologyClass	hp	UMLS:C4021025	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.	http://purl.obolibrary.org/obo/HP_0100266		Wrist bone/ankle bone fusions|Carpal and tarsal fusions|Coalescence of carpal and tarsal bones|Fusion of carpal and tarsal bones
OBO:HP_0100267	Lip pit	biolink:OntologyClass	hp	UMLS:C0341059	A depression located on a lip.	http://purl.obolibrary.org/obo/HP_0100267	hposlim_core	
OBO:HP_0100268	Upper lip pit	biolink:OntologyClass	hp	UMLS:C4022176	Depression located on the vermilion of the upper lip, usually paramedian.	http://purl.obolibrary.org/obo/HP_0100268		
OBO:HP_0100269	Paramedian lip pit	biolink:OntologyClass	hp	UMLS:C4022175	Depression located paramedially on the vermilion of a lip.	http://purl.obolibrary.org/obo/HP_0100269		Paramedian labial pits
OBO:HP_0100270	Abnormality of dorsoventral patterning of the limbs	biolink:OntologyClass	hp	UMLS:C4022174	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.	http://purl.obolibrary.org/obo/HP_0100270		
OBO:HP_0100271	Hyponasal speech	biolink:OntologyClass	hp	UMLS:C4022173	Hyponasal speech is when there is an abnormally reduced nasal airflow during speech often in a setting of nasal obstruction or congestion.	http://purl.obolibrary.org/obo/HP_0100271		
OBO:HP_0100272	Branchial sinus	biolink:OntologyClass	hp	SNOMEDCT_US:253259008|UMLS:C0266624	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.	http://purl.obolibrary.org/obo/HP_0100272		Branchial cleft sinus
OBO:HP_0100273	Neoplasm of the colon	biolink:OntologyClass	hp	MSH:D003110|NCIT:C3262|SNOMEDCT_US:126838000|UMLS:C0009375		http://purl.obolibrary.org/obo/HP_0100273		Colon tumor
OBO:HP_0100274	Gustatory lacrimation	biolink:OntologyClass	hp	UMLS:C1862052	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.	http://purl.obolibrary.org/obo/HP_0100274		
OBO:HP_0100275	Diffuse cerebellar atrophy	biolink:OntologyClass	hp	UMLS:C1854699	Diffuse unlocalised atrophy affecting the cerebellum.	http://purl.obolibrary.org/obo/HP_0100275		
OBO:HP_0100276	Skin pit	biolink:OntologyClass	hp	UMLS:C4020712|UMLS:C4022172	A small, skin-lined tract that leads from the surface to deep within the tissues.	http://purl.obolibrary.org/obo/HP_0100276		Skin pit|Skin pits
OBO:HP_0100277	Periauricular skin pits	biolink:OntologyClass	hp	UMLS:C4022171	Benign congenital lesions of the periauricular soft tissue consisting of a blind-ending narrow tube or pit.	http://purl.obolibrary.org/obo/HP_0100277		Pits around the ear|Periauricular earpits|Periauricular fistulas|Periauricular pits|Periauricular sinus
OBO:HP_0100279	Ulcerative colitis	biolink:OntologyClass	hp	MSH:D003093|SNOMEDCT_US:64766004|UMLS:C0009324	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.	http://purl.obolibrary.org/obo/HP_0100279		Colitis ulcerosa
OBO:HP_0100280	Crohn's disease	biolink:OntologyClass	hp	MSH:D003424|SNOMEDCT_US:34000006|UMLS:C0010346	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.	http://purl.obolibrary.org/obo/HP_0100280		Granulomatous enteritis and colitis|Morbus Crohn
OBO:HP_0100281	Chronic colitis	biolink:OntologyClass	hp	SNOMEDCT_US:54597004|UMLS:C0267375	A chronic inflammatory disease of the large intestine (colon, cecum and rectum).	http://purl.obolibrary.org/obo/HP_0100281		
OBO:HP_0100282	Acute colitis	biolink:OntologyClass	hp	UMLS:C2118460	An acute and self-limited inflammatory disease of the large intestine (colon, cecum and rectum).	http://purl.obolibrary.org/obo/HP_0100282		
OBO:HP_0100283	EMG: continuous motor unit activity at rest	biolink:OntologyClass	hp	UMLS:C4022170	Continuous electromyographic activity of motor units at rest, i.e., without voluntary movement of the muscles.	http://purl.obolibrary.org/obo/HP_0100283		
OBO:HP_0100284	EMG: myotonic discharges	biolink:OntologyClass	hp	UMLS:C4022169	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.	http://purl.obolibrary.org/obo/HP_0100284		
OBO:HP_0100285	EMG: impaired neuromuscular transmission	biolink:OntologyClass	hp	UMLS:C4022168	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).	http://purl.obolibrary.org/obo/HP_0100285		
OBO:HP_0100287	EMG: slow motor conduction	biolink:OntologyClass	hp	UMLS:C4022167	The presence of reduced conduction velocity of motor nerves on electromyography.	http://purl.obolibrary.org/obo/HP_0100287		
OBO:HP_0100288	EMG: myokymic discharges	biolink:OntologyClass	hp	UMLS:C4022166	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.	http://purl.obolibrary.org/obo/HP_0100288		
OBO:HP_0100289	Abnormality of pattern reversal visual evoked potentials	biolink:OntologyClass	hp	UMLS:C4022165		http://purl.obolibrary.org/obo/HP_0100289		Abnormality of pattern reversal VEP
OBO:HP_0100290	Abnormality of peripheral somatosensory evoked potentials	biolink:OntologyClass	hp	UMLS:C4022164		http://purl.obolibrary.org/obo/HP_0100290		
OBO:HP_0100291	Abnormality of central somatosensory evoked potentials	biolink:OntologyClass	hp	UMLS:C4022163		http://purl.obolibrary.org/obo/HP_0100291		
OBO:HP_0100292	Amyloidosis of peripheral nerves	biolink:OntologyClass	hp	UMLS:C4022162	The presence of amyloid deposition in the nerves of the peripheral nervous system.	http://purl.obolibrary.org/obo/HP_0100292		
OBO:HP_0100293	Muscle fiber hypertrophy	biolink:OntologyClass	hp	SNOMEDCT_US:42091004|UMLS:C0333759		http://purl.obolibrary.org/obo/HP_0100293		Muscle fibre hypertrophy
OBO:HP_0100295	Muscle fiber atrophy	biolink:OntologyClass	hp	SNOMEDCT_US:67867005|UMLS:C0333751		http://purl.obolibrary.org/obo/HP_0100295		Muscle fiber degeneration|Muscle fibre atrophy
OBO:HP_0100296	Perifascicular muscle fiber atrophy	biolink:OntologyClass	hp	SNOMEDCT_US:87196003|UMLS:C0333757		http://purl.obolibrary.org/obo/HP_0100296		Perifascicular muscle fibre atrophy
OBO:HP_0100297	Increased endomysial connective tissue	biolink:OntologyClass	hp	UMLS:C4022161	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.	http://purl.obolibrary.org/obo/HP_0100297		
OBO:HP_0100298	Motheaten muscle fibers	biolink:OntologyClass	hp	UMLS:C4022160		http://purl.obolibrary.org/obo/HP_0100298		Motheaten muscle fibres
OBO:HP_0100299	Muscle fiber inclusion bodies	biolink:OntologyClass	hp	UMLS:C4022159		http://purl.obolibrary.org/obo/HP_0100299		Muscle fibre inclusion bodies
OBO:HP_0100300	Desmin bodies	biolink:OntologyClass	hp	UMLS:C4022158		http://purl.obolibrary.org/obo/HP_0100300		
OBO:HP_0100301	Muscle fiber tubular inclusions	biolink:OntologyClass	hp	UMLS:C4021024	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.	http://purl.obolibrary.org/obo/HP_0100301		Muscle fibre tubular inclusions|Muscle fiber tubular aggregates
OBO:HP_0100302	Muscle fiber tubuloreticular inclusions	biolink:OntologyClass	hp	UMLS:C4021023		http://purl.obolibrary.org/obo/HP_0100302		Muscle fibre tubuloreticular inclusions|Muscle fiber tubuloreticular aggregates
OBO:HP_0100303	Muscle fiber cytoplasmatic inclusion bodies	biolink:OntologyClass	hp	UMLS:C4022157	The presence of inclusion bodies within the cytoplasm of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins.	http://purl.obolibrary.org/obo/HP_0100303		Muscle fibre cytoplasmatic inclusion bodies|Muscle fiber cytoplasmic bodies
OBO:HP_0100304	Muscle fiber intranuclear inclusion bodies	biolink:OntologyClass	hp	UMLS:C4022156	The presence of inclusion bodies within the nucleus of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins.	http://purl.obolibrary.org/obo/HP_0100304		Muscle fibre intranuclear inclusion bodies
OBO:HP_0100305	Ring fibers	biolink:OntologyClass	hp	SNOMEDCT_US:47913008|UMLS:C0333770	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.	http://purl.obolibrary.org/obo/HP_0100305		Ring fibres
OBO:HP_0100306	Muscle fiber hyaline bodies	biolink:OntologyClass	hp	UMLS:C4022155		http://purl.obolibrary.org/obo/HP_0100306		Muscle fibre hyaline bodies
OBO:HP_0100307	Cerebellar hemisphere hypoplasia	biolink:OntologyClass	hp	UMLS:C4022154		http://purl.obolibrary.org/obo/HP_0100307		
OBO:HP_0100308	Cerebral cortical hemiatrophy	biolink:OntologyClass	hp	UMLS:C4022153	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.	http://purl.obolibrary.org/obo/HP_0100308		
OBO:HP_0100309	Subdural hemorrhage	biolink:OntologyClass	hp	MSH:D006408|SNOMEDCT_US:35486000|SNOMEDCT_US:95453001|UMLS:C0018946	Hemorrhage occurring between the dura mater and the arachnoid mater.	http://purl.obolibrary.org/obo/HP_0100309		Subdural haemorrhage|Subdural haematoma
OBO:HP_0100310	Epidural hemorrhage	biolink:OntologyClass	hp	MSH:D006407|SNOMEDCT_US:428268007|SNOMEDCT_US:82999001|UMLS:C0238154	Hemorrhage occurring between the dura mater and the skull.	http://purl.obolibrary.org/obo/HP_0100310		Epidural haemorrhage|Epidural haematoma|Epidural hematoma|Extradural haematoma|Extradural hematoma
OBO:HP_0100311	Cerebral ventricular adhesions	biolink:OntologyClass	hp	UMLS:C4022152	Bands of scar-like tisssue that hve formed within a cerebral ventricle.	http://purl.obolibrary.org/obo/HP_0100311		
OBO:HP_0100312	Cerebral germinoma	biolink:OntologyClass	hp	NCIT:C3708|UMLS:C4022151	The presence of a germ cell tumor of the cerebrum.	http://purl.obolibrary.org/obo/HP_0100312		
OBO:HP_0100313	Cerebral granulomatosis	biolink:OntologyClass	hp	UMLS:C4022150	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.	http://purl.obolibrary.org/obo/HP_0100313		
OBO:HP_0100314	Cerebral inclusion bodies	biolink:OntologyClass	hp	UMLS:C4022149	Nuclear or cytoplasmic aggregates of stainable substances within cells of the brain.	http://purl.obolibrary.org/obo/HP_0100314		
OBO:HP_0100315	Lewy bodies	biolink:OntologyClass	hp	MSH:D016631|MSH:D020961|SNOMEDCT_US:312991009|SNOMEDCT_US:43127003|SNOMEDCT_US:80098002|UMLS:C0085200|UMLS:C0752347		http://purl.obolibrary.org/obo/HP_0100315		Lewy body disease
OBO:HP_0100316	Hirano bodies	biolink:OntologyClass	hp	SNOMEDCT_US:57458003|UMLS:C0521178	Intracellular aggregates of actin and actin-associated proteins within nerve cells.	http://purl.obolibrary.org/obo/HP_0100316		
OBO:HP_0100317	Argyrophilic inclusion bodies	biolink:OntologyClass	hp	UMLS:C4021022	Presence of abundant argyrophilic grains and coiled bodies on microscopic examination of brain tissue.	http://purl.obolibrary.org/obo/HP_0100317		Agyrophilic inclusion bodies|Pick inclusion bodies
OBO:HP_0100318	Lafora bodies	biolink:OntologyClass	hp	SNOMEDCT_US:87554006|UMLS:C0333749	An intraneuronal inclusion body composed of acid mucopolysaccharides.	http://purl.obolibrary.org/obo/HP_0100318		
OBO:HP_0100319	Cerebral hyaline bodies	biolink:OntologyClass	hp	UMLS:C4021021	Cerebral eosinophilic, discrete, intracytoplasmatic inclusions of unknown significance.	http://purl.obolibrary.org/obo/HP_0100319		Cerebral colloid bodies
OBO:HP_0100320	Rosenthal fibers	biolink:OntologyClass	hp	SNOMEDCT_US:84605001|UMLS:C0333731	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.	http://purl.obolibrary.org/obo/HP_0100320		Rosenthal fibres
OBO:HP_0100321	Abnormality of the dentate nucleus	biolink:OntologyClass	hp	UMLS:C4022148	An abnormality of the dentate nucleus.	http://purl.obolibrary.org/obo/HP_0100321		
OBO:HP_0100322	Aplasia of the pyramidal tract	biolink:OntologyClass	hp	UMLS:C4022147		http://purl.obolibrary.org/obo/HP_0100322		Absent pyramidal tract
OBO:HP_0100323	Juvenile aseptic necrosis	biolink:OntologyClass	hp	UMLS:C4020710|UMLS:C4022146	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.	http://purl.obolibrary.org/obo/HP_0100323		Aseptic epiphyseal necrosis
OBO:HP_0100324	Scleroderma	biolink:OntologyClass	hp	MSH:D012594|SNOMEDCT_US:403524003|SNOMEDCT_US:89155008|UMLS:C0011644|UMLS:C1274865	A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin.	http://purl.obolibrary.org/obo/HP_0100324		Progressive systemic scleroderma|Pseudoscleroderma
OBO:HP_0100326	Immunologic hypersensitivity	biolink:OntologyClass	hp	UMLS:C0237653	Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens.	http://purl.obolibrary.org/obo/HP_0100326		
OBO:HP_0100327	Cow milk allergy	biolink:OntologyClass	hp	SNOMEDCT_US:15911003|UMLS:C0266815	Hypersensitivity in form of an adverse immune reaction against cow milk protein.	http://purl.obolibrary.org/obo/HP_0100327		Cow milk allergy|Milk allergy|IgE-mediated cow milk allergy|Immunoglobulin E-mediated cow milk allergy
OBO:HP_0100328	Carpometacarpal synostosis	biolink:OntologyClass	hp	UMLS:C4022145	Fusion involving carpal and metacarpal bones.	http://purl.obolibrary.org/obo/HP_0100328		Fused wrist bones and long bones of hand
OBO:HP_0100329	Tarsometatarsal synostosis	biolink:OntologyClass	hp	UMLS:C4022144		http://purl.obolibrary.org/obo/HP_0100329		Fused bones of the midfoot
OBO:HP_0100333	Unilateral cleft lip	biolink:OntologyClass	hp	SNOMEDCT_US:304067009|UMLS:C0392006	A non-midline cleft of the upper lip on one side only.	http://purl.obolibrary.org/obo/HP_0100333		One sided cleft upper lip|Unilateral cheiloschisis|Unilateral cleft upper lip
OBO:HP_0100334	Unilateral cleft palate	biolink:OntologyClass	hp	UMLS:C4022143		http://purl.obolibrary.org/obo/HP_0100334		One sided cleft palate|Unilateral palatoschisis
OBO:HP_0100335	Non-midline cleft lip	biolink:OntologyClass	hp	UMLS:C4021020	Clefting of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region.	http://purl.obolibrary.org/obo/HP_0100335		Non-midline cleft of the upper lip|Paramedian cleft of the upper lip
OBO:HP_0100336	Bilateral cleft lip	biolink:OntologyClass	hp	SNOMEDCT_US:304068004|UMLS:C0392005	A non-midline cleft of the upper lip on the left and right sides.	http://purl.obolibrary.org/obo/HP_0100336	hposlim_core	Both sided cleft lip|Right and left cleft lip|Bilateral cheiloschisis
OBO:HP_0100337	Bilateral cleft palate	biolink:OntologyClass	hp	UMLS:C3553084	Nonmidline cleft palate on the left and right sides.	http://purl.obolibrary.org/obo/HP_0100337	hposlim_core	Right and left cleft palate|Bilateral palatoschisis
OBO:HP_0100338	Non-midline cleft palate	biolink:OntologyClass	hp	UMLS:C4022142		http://purl.obolibrary.org/obo/HP_0100338		Paramedian cleft palate
OBO:HP_0100339	Abnormality of the os naviculare pedis	biolink:OntologyClass	hp	UMLS:C4022141		http://purl.obolibrary.org/obo/HP_0100339		
OBO:HP_0100340	Fibular deviation of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022140		http://purl.obolibrary.org/obo/HP_0100340		
OBO:HP_0100341	Tibial deviation of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022139		http://purl.obolibrary.org/obo/HP_0100341		
OBO:HP_0100342	Fibular deviation of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022138		http://purl.obolibrary.org/obo/HP_0100342		
OBO:HP_0100343	Tibial deviation of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022137		http://purl.obolibrary.org/obo/HP_0100343		
OBO:HP_0100344	Fibular deviation of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4022136		http://purl.obolibrary.org/obo/HP_0100344		
OBO:HP_0100345	Tibial deviation of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4022135		http://purl.obolibrary.org/obo/HP_0100345		
OBO:HP_0100346	Fibular deviation of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022134		http://purl.obolibrary.org/obo/HP_0100346		
OBO:HP_0100347	Tibial deviation of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022133		http://purl.obolibrary.org/obo/HP_0100347		
OBO:HP_0100348	Contracture of the proximal interphalangeal joint of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4021019	The proximal interphalangeal joint of the 2nd toe cannot be straightened actively or passively.	http://purl.obolibrary.org/obo/HP_0100348		Camptodactyly of the 2nd toe|Camptodactyly of the second toe
OBO:HP_0100349	Contracture of the proximal interphalangeal joint of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4021018	The proximal interphalangeal joint of the 3rd toe cannot be straightened actively or passively.	http://purl.obolibrary.org/obo/HP_0100349		Camptodactyly of the 3rd toe
OBO:HP_0100350	Contracture of the proximal interphalangeal joint of the 4th toe	biolink:OntologyClass	hp	UMLS:C4021017	The proximal interphalangeal joint of the 4th toe cannot be straightened actively or passively.	http://purl.obolibrary.org/obo/HP_0100350		Camptodactyly of the 4th toe|Camptodactyly of the fourth toe|Contracture of the innermost hinge joint of the 4th toe
OBO:HP_0100351	Contractures of the proximal interphalangeal joint of the 5th toe	biolink:OntologyClass	hp	UMLS:C4021016	The proximal interphalangeal joint of the fifth toe cannot be straightened actively or passively.	http://purl.obolibrary.org/obo/HP_0100351		Camptodactyly of the 5th toe|Camptodactyly of the fifth toe
OBO:HP_0100352	Contracture of the distal interphalangeal joint of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4021015	The distal interphalangeal joint of the 2nd toe cannot be straightened actively or passively.	http://purl.obolibrary.org/obo/HP_0100352		Contracture of the distal interphalangeal joint of the second toe
OBO:HP_0100353	Contracture of the distal interphalangeal joint of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022132	The distal interphalangeal joint of the 3rd toe cannot be straightened actively or passively.	http://purl.obolibrary.org/obo/HP_0100353		
OBO:HP_0100354	Contracture of the distal interphalangeal joint of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022131	The distal interphalangeal joint of the 4th toe cannot be straightened actively or passively.	http://purl.obolibrary.org/obo/HP_0100354		
OBO:HP_0100355	Contractures of the distal interphalangeal joint of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022130	The distal interphalangeal joint of the 5th toe cannot be straightened actively or passively.	http://purl.obolibrary.org/obo/HP_0100355		Contracture of the outermost hinge joint of the 5th toe
OBO:HP_0100356	Contracture of the metatarsophalangeal joint of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4022129	The joint between the second metatarsal and the proximal phalanx of the 2nd toe cannot be straightened actively or passively.	http://purl.obolibrary.org/obo/HP_0100356		
OBO:HP_0100357	Contracture of the metatarsophalangeal joint of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022128	The joint between the second metatarsal and the proximal phalanx of the 3rd toe cannot be straightened actively or passively.	http://purl.obolibrary.org/obo/HP_0100357		
OBO:HP_0100358	Contracture of the metatarsophalangeal joint of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022127	The joint between the second metatarsal and the proximal phalanx of the 4th toe cannot be straightened actively or passively.	http://purl.obolibrary.org/obo/HP_0100358		
OBO:HP_0100359	Contracture of the metatarsophalangeal joint of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022126	The joint between the second metatarsal and the proximal phalanx of the 5th toe cannot be straightened actively or passively.	http://purl.obolibrary.org/obo/HP_0100359		
OBO:HP_0100360	Contractures of the joints of the upper limbs	biolink:OntologyClass	hp	UMLS:C2750635		http://purl.obolibrary.org/obo/HP_0100360		
OBO:HP_0100362	Aplasia of the phalanges of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022125		http://purl.obolibrary.org/obo/HP_0100362		Absent digital bone of the 3rd toe
OBO:HP_0100363	Aplasia of the phalanges of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022124		http://purl.obolibrary.org/obo/HP_0100363		Absent bones of the 4th toe
OBO:HP_0100364	Aplasia of the phalanges of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022123		http://purl.obolibrary.org/obo/HP_0100364		Absent little toe bones|Absent pinkie toe bones|Absent pinky toe bones
OBO:HP_0100366	Short phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4021014	Developmental hypoplasia of the phalanx of third toe.	http://purl.obolibrary.org/obo/HP_0100366		Short 3rd toe bone|Hypoplastic/small phalanges of the 3rd toe|Short phalanx of the third toe
OBO:HP_0100367	Short phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4021013	Developmental hypoplasia of one or more phalanx of fourth toe.	http://purl.obolibrary.org/obo/HP_0100367		Short 4th toe bone|Hypoplastic/small phalanges of the 4th toe|Short phalanx of the fourth toe
OBO:HP_0100368	Short phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4021012	Developmental hypoplasia of one or more phalanx of little toe.	http://purl.obolibrary.org/obo/HP_0100368		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
OBO:HP_0100369	Aplasia/Hypoplasia of the distal phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022122		http://purl.obolibrary.org/obo/HP_0100369		Absent/small outermost 3rd toe bone|Absent/underdeveloped outermost 3rd toe bone
OBO:HP_0100370	Aplasia/Hypoplasia of the distal phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022121		http://purl.obolibrary.org/obo/HP_0100370		Absent/small outermost bone of 4th toe|Absent/underdeveloped outermost bone of 4th toe
OBO:HP_0100371	Aplasia/Hypoplasia of the distal phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022120		http://purl.obolibrary.org/obo/HP_0100371		Absent/small outermost little toe bone|Absent/small outermost pinkie toe bone|Absent/small outermost pinky toe bone|Absent/underdeveloped outermost pinky toe bone
OBO:HP_0100372	Aplasia/Hypoplasia of the middle phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022119		http://purl.obolibrary.org/obo/HP_0100372		Absent/small middle 3rd toe bone|Absent/underdeveloped middle 3rd toe bone
OBO:HP_0100373	Aplasia/Hypoplasia of the middle phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022118		http://purl.obolibrary.org/obo/HP_0100373		Absent/small middle bone of the 4th toe|Absent/underdeveloped middle bone of the 4th toe
OBO:HP_0100374	Aplasia/Hypoplasia of the middle phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022117		http://purl.obolibrary.org/obo/HP_0100374		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
OBO:HP_0100375	Aplasia/hypoplasia of the proximal phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022116	Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the 3rd toe.	http://purl.obolibrary.org/obo/HP_0100375		Absent/small innermost bone of 3rd toe|Absent/underdeveloped innermost bone of 3rd toe
OBO:HP_0100376	Aplasia/hypoplasia of the proximal phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022115	Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the 4th toe.	http://purl.obolibrary.org/obo/HP_0100376		Absent/small innermost 4th toe bone|Absent/underdeveloped innermost 4th toe bone
OBO:HP_0100377	Aplasia/hypoplasia of the proximal phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022114	Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the 5th toe.	http://purl.obolibrary.org/obo/HP_0100377		Absent/small innermost little toe bone|Absent/small innermost pinkie toe bone|Absent/small innermost pinky toe bone|Absent/underdeveloped innermost 5th toe bone
OBO:HP_0100378	Absent distal phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4021011	Developmental aplasia of the distal phalanx of third toe.	http://purl.obolibrary.org/obo/HP_0100378		Absent outermost bone of the 3rd toe|Absent distal phalanx of the third toe|Aplasia of the distal phalanx of the 3rd toe
OBO:HP_0100379	Aplasia of the distal phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022113		http://purl.obolibrary.org/obo/HP_0100379		Absent outermost bone of the 4th toe|Absent distal phalanx of the 4th toe
OBO:HP_0100380	Aplasia of the distal phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022112		http://purl.obolibrary.org/obo/HP_0100380		Absent outermost bone of the little toe|Absent outermost bone of the pinkie toe|Absent outermost bone of the pinky toe
OBO:HP_0100381	Absent middle phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4021010	Developmental aplasia of the middle phalanx of third toe.	http://purl.obolibrary.org/obo/HP_0100381		Absent middle bone of the 3rd toe|Absent middle phalanx of the third toe|Aplasia of the middle phalanx of the 3rd toe
OBO:HP_0100382	Aplasia of the middle phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022111		http://purl.obolibrary.org/obo/HP_0100382		Absent middle bone of 4th toe
OBO:HP_0100383	Aplasia of the middle phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022110		http://purl.obolibrary.org/obo/HP_0100383		Absent middle bone of little toe|Absent middle bone of pinkie toe|Absent middle bone of pinky toe
OBO:HP_0100384	Absent proximal phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4021009	Absence of proximal phalanx of third toe, owing to a congenital defect of development.	http://purl.obolibrary.org/obo/HP_0100384		Absent innermost bone of the 3rd toe|Aplasia of the proximal phalanx of the 3rd toe
OBO:HP_0100385	Aplasia of the proximal phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022109		http://purl.obolibrary.org/obo/HP_0100385		Absent innermost bone of the 4th toe
OBO:HP_0100386	Aplasia of the proximal phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022108		http://purl.obolibrary.org/obo/HP_0100386		Absent innermost bone of the little toe|Absent innermost bone of the pinkie toe|Absent innermost bone of the pinky toe
OBO:HP_0100387	Aplasia of the middle phalanges of the toes	biolink:OntologyClass	hp	UMLS:C4022107		http://purl.obolibrary.org/obo/HP_0100387		Absent middle toe bones
OBO:HP_0100388	Aplasia of the proximal phalanges of the toes	biolink:OntologyClass	hp	UMLS:C4022106		http://purl.obolibrary.org/obo/HP_0100388		Absent innermost toe bones
OBO:HP_0100389	Short distal phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4021008	Developmental hypoplasia of the distal phalanx of third toe.	http://purl.obolibrary.org/obo/HP_0100389		Short outermost bone of the 3rd toe|Hypoplastic/small distal phalanx of the 3rd toe|Short distal phalanx of the third toe
OBO:HP_0100390	Short distal phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4021007	Developmental hypoplasia of the distal phalanx of fourth toe.	http://purl.obolibrary.org/obo/HP_0100390		Short outermost bone of the 4th toe|Hypoplastic/small distal phalanx of the 4th toe|Short distal phalanx of the fourth toe
OBO:HP_0100391	Short distal phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4021006	Developmental hypoplasia of the distal phalanx of little toe.	http://purl.obolibrary.org/obo/HP_0100391		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
OBO:HP_0100392	Short middle phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4021005	Developmental hypoplasia of the middle phalanx of third toe.	http://purl.obolibrary.org/obo/HP_0100392		Hypoplastic/small middle phalanx of the 3rd toe|Short middle phalanx of the third toe
OBO:HP_0100393	Short middle phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4021004	Developmental hypoplasia of the middle phalanx of fourth toe.	http://purl.obolibrary.org/obo/HP_0100393		Short middle bone of 4th toe|Hypoplastic/small middle phalanx of the 4th toe|Short middle phalanx of the fourth toe
OBO:HP_0100394	Short middle phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4021003	Developmental hypoplasia of the middle phalanx of the 5th toe.	http://purl.obolibrary.org/obo/HP_0100394		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
OBO:HP_0100395	Short proximal phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4021002	Abnormal reduction in length of proximal phalanx of third toe.	http://purl.obolibrary.org/obo/HP_0100395		Hypoplastic/small proximal phalanx of the 3rd toe|Short proximal phalanx of the third toe
OBO:HP_0100396	Short proximal phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4021001	Developmental hypoplasia of the proximal phalanx of fourth toe.	http://purl.obolibrary.org/obo/HP_0100396		Hypoplastic/small proximal phalanx of the 4th toe|Short fourth toe proximal phalanx|Short proximal phalanx of the fourth toe
OBO:HP_0100397	Short proximal phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4021000	Developmental hypoplasia of the proximal phalanx of fifth toe.	http://purl.obolibrary.org/obo/HP_0100397		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
OBO:HP_0100398	Duplication of the distal phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4020999	Partial or complete duplication of distal phalanx of third toe.	http://purl.obolibrary.org/obo/HP_0100398		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
OBO:HP_0100399	Duplication of the distal phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4020998	Partial or complete duplication of the distal phalanx of fourth toe.	http://purl.obolibrary.org/obo/HP_0100399		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
OBO:HP_0100400	Duplication of the distal phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4020997	Partial or complete duplication of the distal phalanx of little toe.	http://purl.obolibrary.org/obo/HP_0100400		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
OBO:HP_0100401	Duplication of the middle phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4020996	Partial or complete duplication of middle phalanx of third toe.	http://purl.obolibrary.org/obo/HP_0100401		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
OBO:HP_0100402	Duplication of the middle phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4020995	Partial or complete duplication of middle phalanx of fourth toe.	http://purl.obolibrary.org/obo/HP_0100402		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
OBO:HP_0100403	Duplication of the middle phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4020994	Partial or complete duplication of the middle phalanx of the 5th toe.	http://purl.obolibrary.org/obo/HP_0100403		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
OBO:HP_0100404	Duplication of the proximal phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4020993	Partial or complete duplication of proximal phalanx of third toe.	http://purl.obolibrary.org/obo/HP_0100404		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
OBO:HP_0100405	Duplication of the proximal phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4020992	Partial or complete duplication of the proximal phalanx of fourth toe.	http://purl.obolibrary.org/obo/HP_0100405		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
OBO:HP_0100406	Duplication of the proximal phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4020991	Partial or complete duplication of the proximal phalanx of fifth toe.	http://purl.obolibrary.org/obo/HP_0100406		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
OBO:HP_0100407	Complete duplication of the distal phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4020990	Complete duplication of distal phalanx of third toe.	http://purl.obolibrary.org/obo/HP_0100407		Complete duplication of the outermost bone of the 3rd toe|Complete duplication of the distal phalanx of the third toe
OBO:HP_0100408	Complete duplication of the distal phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4020989	Complete duplication of the distal phalanx of fourth toe.	http://purl.obolibrary.org/obo/HP_0100408		Complete duplication of the outermost bone of the 4th toe|Complete duplication of the distal phalanx of the fourth toe
OBO:HP_0100409	Complete duplication of the distal phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4020988	Complete duplication of the distal phalanx of little toe.	http://purl.obolibrary.org/obo/HP_0100409		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
OBO:HP_0100410	Complete duplication of the middle phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4020987	Complete duplication of middle phalanx of third toe.	http://purl.obolibrary.org/obo/HP_0100410		Complete duplication of the middle bone of the 3rd toe|Complete duplication of the middle phalanx of the third toe
OBO:HP_0100411	Complete duplication of the middle phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4020986	Complete duplication of middle phalanx of fourth toe.	http://purl.obolibrary.org/obo/HP_0100411		Complete duplication of the middle bone of the 4th toe|Complete duplication of the middle phalanx of the fourth toe
OBO:HP_0100412	Complete duplication of the middle phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4020985	Complete duplication of the middle phalanx of the 5th toe.	http://purl.obolibrary.org/obo/HP_0100412		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
OBO:HP_0100413	Complete duplication of the proximal phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022105	Complete duplication of proximal phalanx of third toe.	http://purl.obolibrary.org/obo/HP_0100413		Complete duplication of the innermost 3rd toe bone
OBO:HP_0100414	Complete duplication of the proximal phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022104		http://purl.obolibrary.org/obo/HP_0100414		Complete duplication of the innermost 4th toe bone
OBO:HP_0100415	Complete duplication of the proximal phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4020984	Complete duplication of the proximal phalanx of fifth toe.	http://purl.obolibrary.org/obo/HP_0100415		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
OBO:HP_0100416	Partial duplication of the distal phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4020983	Partial duplication of distal phalanx of third toe.	http://purl.obolibrary.org/obo/HP_0100416		Partial duplication of the outermost bone of the 3rd toe|Partial duplication of the distal phalanx of the third toe
OBO:HP_0100417	Partial duplication of the distal phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4020982	Partial duplication of the distal phalanx of fourth toe.	http://purl.obolibrary.org/obo/HP_0100417		Partial duplication of the outermost bone of the fourth toe|Partial duplication of the distal phalanx of the fourth toe
OBO:HP_0100418	Partial duplication of the distal phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4020981	Partial duplication of the distal phalanx of little toe.	http://purl.obolibrary.org/obo/HP_0100418		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
OBO:HP_0100419	Partial duplication of the middle phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4020980	Partial duplication of middle phalanx of third toe.	http://purl.obolibrary.org/obo/HP_0100419		Partial duplication of the middle bone of 3rd toe|Partial duplication of the middle phalanx of the third toe
OBO:HP_0100420	Partial duplication of the middle phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4020979	Partial duplication of middle phalanx of fourth toe.	http://purl.obolibrary.org/obo/HP_0100420		Partial duplication of the middle bone of the 4th toe|Partial duplication of the middle phalanx of the fourth toe
OBO:HP_0100421	Partial duplication of the middle phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4020978	Partial duplication of the middle phalanx of the 5th toe.	http://purl.obolibrary.org/obo/HP_0100421		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
OBO:HP_0100422	Partial duplication of the proximal phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4020977	Partial duplication of proximal phalanx of third toe.	http://purl.obolibrary.org/obo/HP_0100422		Partial duplication of the innermost bone of 3rd toe|Partial duplication of the proximal phalanx of the third toe
OBO:HP_0100423	Partial duplication of the proximal phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022103		http://purl.obolibrary.org/obo/HP_0100423		Partial duplication of the innermost bone of 4th toe
OBO:HP_0100424	Partial duplication of the proximal phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4020976	Partial duplication of the proximal phalanx of fifth toe.	http://purl.obolibrary.org/obo/HP_0100424		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
OBO:HP_0100425	Broad middle phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022102		http://purl.obolibrary.org/obo/HP_0100425		Broad middle 3rd toe bone
OBO:HP_0100426	Broad middle phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022101		http://purl.obolibrary.org/obo/HP_0100426		Broad middle 4th toe bone
OBO:HP_0100427	Broad middle phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022100		http://purl.obolibrary.org/obo/HP_0100427		Broad middle bone of the little toe|Broad middle bone of the pinkie toe|Broad middle bone of the pinky toe
OBO:HP_0100428	Broad proximal phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022099		http://purl.obolibrary.org/obo/HP_0100428		Wide innermost bone of 3rd toe
OBO:HP_0100429	Broad proximal phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022098		http://purl.obolibrary.org/obo/HP_0100429		Wide innermost bone of 4th toe
OBO:HP_0100430	Broad proximal phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022097		http://purl.obolibrary.org/obo/HP_0100430		Broad innermost bone of the little toe|Broad innermost bone of the pinkie toe|Broad innermost bone of the pinky toe
OBO:HP_0100431	Broad distal phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022096		http://purl.obolibrary.org/obo/HP_0100431		Broad outermost bone of the 3rd toe|Wide outermost bone of the 3rd toe
OBO:HP_0100432	Broad distal phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022095		http://purl.obolibrary.org/obo/HP_0100432		Broad outermost bone of the 4th toe|Wide outermost bone of the 4th toe
OBO:HP_0100433	Broad distal phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022094		http://purl.obolibrary.org/obo/HP_0100433		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
OBO:HP_0100434	Bullet-shaped middle phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022093	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.	http://purl.obolibrary.org/obo/HP_0100434		Bullet-shaped middle bone of the 3rd toe
OBO:HP_0100435	Bullet-shaped middle phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022092	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.	http://purl.obolibrary.org/obo/HP_0100435		Bullet-shaped middle bone of the 4th toe
OBO:HP_0100436	Bullet-shaped middle phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022091	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.	http://purl.obolibrary.org/obo/HP_0100436		Bullet-shaped middle bone of the little toe|Bullet-shaped middle bone of the pinkie toe|Bullet-shaped middle bone of the pinky toe
OBO:HP_0100437	Bullet-shaped proximal phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022090	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.	http://purl.obolibrary.org/obo/HP_0100437		Bullet-shaped proximal bone of the 3rd toe
OBO:HP_0100438	Bullet-shaped proximal phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022089	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.	http://purl.obolibrary.org/obo/HP_0100438		Bullet-shaped proximal bone of the 4th toe
OBO:HP_0100439	Bullet-shaped proximal phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022088	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.	http://purl.obolibrary.org/obo/HP_0100439		Bullet-shaped innermost bone of little toe|Bullet-shaped innermost bone of pinkie toe|Bullet-shaped innermost bone of pinky toe
OBO:HP_0100440	Bullet-shaped distal phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022087	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.	http://purl.obolibrary.org/obo/HP_0100440		Bullet-shaped outermost bone of the 3rd toe
OBO:HP_0100441	Bullet-shaped distal phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022086	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.	http://purl.obolibrary.org/obo/HP_0100441		Bullet-shaped outermost bone of the 4th toe
OBO:HP_0100442	Bullet-shaped distal phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022085	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.	http://purl.obolibrary.org/obo/HP_0100442		Bullet-shaped outermost bone of the little toe|Bullet-shaped outermost bone of the pinkie toe|Bullet-shaped outermost bone of the pinky toe
OBO:HP_0100443	Curved middle phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022084	A deviation from the normal straight form of the middle phalanx of the third toe.	http://purl.obolibrary.org/obo/HP_0100443		Curved middle bone of 3rd toe
OBO:HP_0100444	Curved middle phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022083	A deviation from the normal straight form of the middle phalanx of the fourth toe.	http://purl.obolibrary.org/obo/HP_0100444		Curved middle bone of 4th toe
OBO:HP_0100445	Curved middle phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022082	A deviation from the normal straight form of the middle phalanx of the fifth toe.	http://purl.obolibrary.org/obo/HP_0100445		Curved middle bone of little toe|Curved middle bone of pinkie toe|Curved middle bone of pinky toe
OBO:HP_0100446	Curved proximal phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022081	A deviation from the normal straight form of the proximal phalanx of the third toe.	http://purl.obolibrary.org/obo/HP_0100446		Curved innermost bone of 3rd toe
OBO:HP_0100447	Curved proximal phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022080	A deviation from the normal straight form of the proximal phalanx of the fourth toe.	http://purl.obolibrary.org/obo/HP_0100447		Curved innermost bone of the 4th toe
OBO:HP_0100448	Curved proximal phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022079	A deviation from the normal straight form of the proximal phalanx of the fifth toe.	http://purl.obolibrary.org/obo/HP_0100448		Curved innermost little toe bone|Curved innermost pinkie toe bone|Curved innermost pinky toe bone
OBO:HP_0100449	Curved distal phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022078	A deviation from the normal straight form of the distal phalanx of the third toe.	http://purl.obolibrary.org/obo/HP_0100449		Curved outermost bone of the 3rd toe
OBO:HP_0100450	Curved distal phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022077	A deviation from the normal straight form of the distal phalanx of the fourth toe.	http://purl.obolibrary.org/obo/HP_0100450		Curved outermost bone of the 4th toe
OBO:HP_0100451	Curved distal phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022076	A deviation from the normal straight form of the distal phalanx of the fifth toe.	http://purl.obolibrary.org/obo/HP_0100451		Curved outermost bone of the little toe|Curved outermost bone of the pinkie toe|Curved outermost bone of the pinky toe
OBO:HP_0100452	Osteolytic defects of the middle phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022075		http://purl.obolibrary.org/obo/HP_0100452		
OBO:HP_0100453	Osteolytic defects of the middle phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022074		http://purl.obolibrary.org/obo/HP_0100453		
OBO:HP_0100454	Osteolytic defects of the middle phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022073		http://purl.obolibrary.org/obo/HP_0100454		
OBO:HP_0100455	Osteolytic defects of the proximal phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022072		http://purl.obolibrary.org/obo/HP_0100455		
OBO:HP_0100456	Osteolytic defects of the proximal phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022071		http://purl.obolibrary.org/obo/HP_0100456		
OBO:HP_0100457	Osteolytic defects of the proximal phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022070		http://purl.obolibrary.org/obo/HP_0100457		
OBO:HP_0100458	Osteolytic defects of the distal phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022069		http://purl.obolibrary.org/obo/HP_0100458		Osteolytic defects of the outermost bone of the 3rd toe
OBO:HP_0100459	Osteolytic defects of the distal phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022068		http://purl.obolibrary.org/obo/HP_0100459		Osteolytic defects of the outermost bone of the 4th toe
OBO:HP_0100460	Osteolytic defects of the distal phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022067		http://purl.obolibrary.org/obo/HP_0100460		Osteolytic defects of the outermost bone of the 5th toe
OBO:HP_0100461	Patchy sclerosis of the middle phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022066		http://purl.obolibrary.org/obo/HP_0100461		Uneven increase in bone density in the middle bone of the 3rd toe
OBO:HP_0100462	Patchy sclerosis of the middle phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022065	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.	http://purl.obolibrary.org/obo/HP_0100462		Uneven increase in bone density in middle bone of the 4th toe
OBO:HP_0100463	Patchy sclerosis of the middle phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022064	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.	http://purl.obolibrary.org/obo/HP_0100463		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
OBO:HP_0100464	Patchy sclerosis of the proximal phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022063		http://purl.obolibrary.org/obo/HP_0100464		Uneven increase in bone density in the innermost bone of the 3rd toe
OBO:HP_0100465	Patchy sclerosis of the proximal phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022062	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.	http://purl.obolibrary.org/obo/HP_0100465		Uneven increase in bone density in the innermost bone of the 4th toe
OBO:HP_0100466	Patchy sclerosis of the proximal phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022061	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.	http://purl.obolibrary.org/obo/HP_0100466		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
OBO:HP_0100467	Patchy sclerosis of the distal phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022060		http://purl.obolibrary.org/obo/HP_0100467		Uneven increase in bone density in the outermost bone of the 3rd toe
OBO:HP_0100468	Patchy sclerosis of the distal phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022059	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.	http://purl.obolibrary.org/obo/HP_0100468		Uneven increase in bone density in the outermost bone of the 4th toe
OBO:HP_0100469	Patchy sclerosis of the distal phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022058	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.	http://purl.obolibrary.org/obo/HP_0100469		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
OBO:HP_0100470	Symphalangism affecting the middle phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022057		http://purl.obolibrary.org/obo/HP_0100470		Fused middle bones of 3rd toe
OBO:HP_0100471	Symphalangism affecting the middle phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022056		http://purl.obolibrary.org/obo/HP_0100471		Fused middle bones of 4th toe
OBO:HP_0100472	Symphalangism affecting the middle phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022055		http://purl.obolibrary.org/obo/HP_0100472		Fused middle bones of 5th toe
OBO:HP_0100473	Symphalangism affecting the proximal phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022054		http://purl.obolibrary.org/obo/HP_0100473		Fused innermost bone of 3rd toe
OBO:HP_0100474	Symphalangism affecting the proximal phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022053		http://purl.obolibrary.org/obo/HP_0100474		Fused innermost bones of 4th toe
OBO:HP_0100475	Symphalangism affecting the proximal phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022052		http://purl.obolibrary.org/obo/HP_0100475		Fused innermost bone of little toe|Fused innermost bone of pinkie toe|Fused innermost bone of pinky toe
OBO:HP_0100476	Symphalangism affecting the distal phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4022051		http://purl.obolibrary.org/obo/HP_0100476		Fused outermost bone of 3rd toe
OBO:HP_0100477	Symphalangism affecting the distal phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4022050		http://purl.obolibrary.org/obo/HP_0100477		Fused outermost bone of the 4th toe
OBO:HP_0100478	Symphalangism affecting the distal phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022049		http://purl.obolibrary.org/obo/HP_0100478		Fused outermost bones of the little toe|Fused outermost bones of the pinkie toe|Fused outermost bones of the pinky toe
OBO:HP_0100480	Proximal/middle symphalangism of 3rd toe	biolink:OntologyClass	hp	UMLS:C4020975	Bony fusion of the middle and proximal phalanges of the 3rd toe.	http://purl.obolibrary.org/obo/HP_0100480		Fused innermost and middle bones of 3rd toe|Symphalangism of the middle and proximal phalanges of the 3rd toe
OBO:HP_0100481	Proximal/middle symphalangism of 4th toe	biolink:OntologyClass	hp	UMLS:C4020974	Bony fusion of the middle and proximal phalanges of the 4th toe.	http://purl.obolibrary.org/obo/HP_0100481		Fused innermost and middle bones of 4th toe|Symphalangism of the middle and proximal phalanges of the 4th toe
OBO:HP_0100482	Proximal/middle symphalangism of 5th toe	biolink:OntologyClass	hp	UMLS:C4020973	Bony fusion of the middle and proximal phalanges of the 5th toe.	http://purl.obolibrary.org/obo/HP_0100482		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
OBO:HP_0100483	Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal	biolink:OntologyClass	hp	UMLS:C4022048		http://purl.obolibrary.org/obo/HP_0100483		Fused innermost bone of 2nd toe with the 2nd long bone of foot
OBO:HP_0100484	Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal	biolink:OntologyClass	hp	UMLS:C4022047		http://purl.obolibrary.org/obo/HP_0100484		Fused innermost bones of third toe with 3rd long bone of foot
OBO:HP_0100485	Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal	biolink:OntologyClass	hp	UMLS:C4022046		http://purl.obolibrary.org/obo/HP_0100485		Fused innermost bone of the 4th toe with 4th long bone of foot
OBO:HP_0100486	Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal	biolink:OntologyClass	hp	UMLS:C4022045		http://purl.obolibrary.org/obo/HP_0100486		Fused innermost pinky toe bone with the 5th long bone of foot
OBO:HP_0100487	Triangular shaped distal phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4022044		http://purl.obolibrary.org/obo/HP_0100487		Triangular shaped outermost bone of the little toe|Triangular shaped outermost bone of the pinkie toe|Triangular shaped outermost bone of the pinky toe
OBO:HP_0100488	Synostosis of the proximal phalanx of the hallux with the 1st metatarsal	biolink:OntologyClass	hp	UMLS:C4022043		http://purl.obolibrary.org/obo/HP_0100488		Fusion of the innermost big toe bone with the 1st long bone of foot
OBO:HP_0100489	Proximal/middle symphalangism of 2nd toe	biolink:OntologyClass	hp	UMLS:C4020972	Bony fusion of the middle and proximal phalanges of the 2nd toe.	http://purl.obolibrary.org/obo/HP_0100489		Fused middle and innermost bones of 2nd toe|Symphalangism of the middle and proximal phalanges of the 2nd toe
OBO:HP_0100490	Camptodactyly of finger	biolink:OntologyClass	hp	SNOMEDCT_US:202281000|UMLS:C0409348	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.	http://purl.obolibrary.org/obo/HP_0100490		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
OBO:HP_0100491	Abnormality of lower limb joint	biolink:OntologyClass	hp	UMLS:C4020971		http://purl.obolibrary.org/obo/HP_0100491		Abnormality of lower limb joint|Abnormality of the joints of the lower limbs
OBO:HP_0100492	Joint contractures involving the joints of the feet	biolink:OntologyClass	hp	UMLS:C4022042	Contractures of one ore more joints of the feet meaning chronic loss of joint motion due to structural changes in non-bony tissue.	http://purl.obolibrary.org/obo/HP_0100492		
OBO:HP_0100493	Hypoammonemia	biolink:OntologyClass	hp	UMLS:C4022041	A decreased concentration of ammonia in the blood.	http://purl.obolibrary.org/obo/HP_0100493		
OBO:HP_0100494	Abnormal mast cell morphology	biolink:OntologyClass	hp	SNOMEDCT_US:397017008|UMLS:C1301149	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.	http://purl.obolibrary.org/obo/HP_0100494		Abnormality of mast cells|Abnormality of mastocytes
OBO:HP_0100495	Mastocytosis	biolink:OntologyClass	hp	MSH:D008415|SNOMEDCT_US:125541005|SNOMEDCT_US:397007003|UMLS:C0024899	The presence of an increased number of mast cells and CD34+ mast cell precursors in the body.	http://purl.obolibrary.org/obo/HP_0100495		
OBO:HP_0100496	Abnormality of the vitamin B3 metabolism	biolink:OntologyClass	hp	UMLS:C4022040		http://purl.obolibrary.org/obo/HP_0100496		Abnormality of the vitamin B3 metabolism
OBO:HP_0100497	Vitamin B3 deficiency	biolink:OntologyClass	hp	MSH:D010383|SNOMEDCT_US:418186002|SNOMEDCT_US:418279001|UMLS:C0030783		http://purl.obolibrary.org/obo/HP_0100497		Vitamin B3 deficiency
OBO:HP_0100498	Deviation of toes	biolink:OntologyClass	hp	UMLS:C4022039		http://purl.obolibrary.org/obo/HP_0100498		
OBO:HP_0100499	Tibial deviation of toes	biolink:OntologyClass	hp	UMLS:C3806533		http://purl.obolibrary.org/obo/HP_0100499		Medial deviation of toes
OBO:HP_0100500	Fibular deviation of toes	biolink:OntologyClass	hp	UMLS:C4020970		http://purl.obolibrary.org/obo/HP_0100500		Lateral deviation of toes
OBO:HP_0100501	Recurrent bronchiolitis	biolink:OntologyClass	hp	UMLS:C4015136	An increased susceptibility to bronchiolitis as manifested by a history of recurrent bronchiolitis.	http://purl.obolibrary.org/obo/HP_0100501		
OBO:HP_0100502	Vitamin B12 deficiency	biolink:OntologyClass	hp	MSH:D014806|SNOMEDCT_US:190634004|UMLS:C0042847		http://purl.obolibrary.org/obo/HP_0100502		Vitamin B12 deficiency
OBO:HP_0100503	Low levels of vitamin B1	biolink:OntologyClass	hp	MSH:D013832|SNOMEDCT_US:399357009|UMLS:C0039841	A reduced concentration of vitamin B1.	http://purl.obolibrary.org/obo/HP_0100503		Vitamin B1 deficiency|Reduced blood thiamine level
OBO:HP_0100504	Low levels of vitamin B2	biolink:OntologyClass	hp	MSH:D012257|SNOMEDCT_US:20307000|UMLS:C0035528	A reduced concentration of vitamin B2.	http://purl.obolibrary.org/obo/HP_0100504		Vitamin B2 deficiency|Riboflavin deficiency
OBO:HP_0100505	Low levels of vitamin B5	biolink:OntologyClass	hp	UMLS:C4022038	A reduced concentration of vitamin B5.	http://purl.obolibrary.org/obo/HP_0100505		Vitamin B5 deficiency
OBO:HP_0100506	Low levels of vitamin B8	biolink:OntologyClass	hp	UMLS:C4022037	A reduced concentration of vitamin B8.	http://purl.obolibrary.org/obo/HP_0100506		Vitamin B8 deficiency
OBO:HP_0100507	Reduced blood folate concentration	biolink:OntologyClass	hp	MSH:D005494|SNOMEDCT_US:190633005|UMLS:C0016412	A reduced circulating concentration of folic acid, which is also known as vitamin B9.	http://purl.obolibrary.org/obo/HP_0100507		Folate deficiency|Vitamin B9 deficiency
OBO:HP_0100508	Abnormality of vitamin metabolism	biolink:OntologyClass	hp	UMLS:C4022036	An anomaly in the metabolism of a vitamin.	http://purl.obolibrary.org/obo/HP_0100508		Abnormality of vitamin metabolism
OBO:HP_0100509	Abnormality of vitamin C metabolism	biolink:OntologyClass	hp	UMLS:C4021863		http://purl.obolibrary.org/obo/HP_0100509		Abnormality of vitamin C metabolism
OBO:HP_0100510	Low levels of vitamin C	biolink:OntologyClass	hp	MSH:D001206|SNOMEDCT_US:76169001|UMLS:C0003969	A reduced concentration of Vitamin C.	http://purl.obolibrary.org/obo/HP_0100510		Vitamin C deficiency
OBO:HP_0100511	Abnormality of vitamin D metabolism	biolink:OntologyClass	hp	UMLS:C4022035		http://purl.obolibrary.org/obo/HP_0100511		Abnormality of vitamin D metabolism
OBO:HP_0100512	Low levels of vitamin D	biolink:OntologyClass	hp	MSH:D014808|SNOMEDCT_US:34713006|UMLS:C0042870	A reduced concentration of Vitamin D.	http://purl.obolibrary.org/obo/HP_0100512		Deficient in vitamin D|Vitamin D deficiency
OBO:HP_0100513	Low levels of vitamin E	biolink:OntologyClass	hp	MSH:D014811|SNOMEDCT_US:54137008|UMLS:C0042875	A reduced concentration of vitamin E in the blood circulation. Vitamin E is a lipophilic vitamin that is also known as alpha-tocopherol.	http://purl.obolibrary.org/obo/HP_0100513		Vitamin E deficiency|Alpha-tocopherol deficiency
OBO:HP_0100514	Abnormality of vitamin E metabolism	biolink:OntologyClass	hp	UMLS:C4022034		http://purl.obolibrary.org/obo/HP_0100514		Abnormality of vitamin E metabolism
OBO:HP_0100515	Pollakisuria	biolink:OntologyClass	hp	SNOMEDCT_US:162116003|SNOMEDCT_US:300471006|UMLS:C0042023	Increased frequency of urination.	http://purl.obolibrary.org/obo/HP_0100515		Constant urination|Frequent urination
OBO:HP_0100516	Neoplasm of the ureter	biolink:OntologyClass	hp	MSH:D014516|NCIT:C3262|SNOMEDCT_US:126882009|SNOMEDCT_US:363458004|UMLS:C0041955|UMLS:C0153619	The presence of a neoplasm of the ureter.	http://purl.obolibrary.org/obo/HP_0100516		Neoplasia of the ureters|ureter, cancer of
OBO:HP_0100517	Neoplasm of the urethra	biolink:OntologyClass	hp	MSH:D014523|NCIT:C2974|SNOMEDCT_US:126883004|UMLS:C0041971	The presence of a neoplasm of the urethra.	http://purl.obolibrary.org/obo/HP_0100517		Neoplasia of the urethra
OBO:HP_0100518	Dysuria	biolink:OntologyClass	hp	MSH:D053159|SNOMEDCT_US:49650001|UMLS:C0013428	Painful or difficult urination.	http://purl.obolibrary.org/obo/HP_0100518		Painful or difficult urination|Dull burning sensation with urination
OBO:HP_0100519	Anuria	biolink:OntologyClass	hp	MSH:D001002|SNOMEDCT_US:2472002|UMLS:C0003460	Absence of urine, clinically classified as below 50ml/day.	http://purl.obolibrary.org/obo/HP_0100519		Absent urine output
OBO:HP_0100520	Oliguria	biolink:OntologyClass	hp	MSH:D009846|SNOMEDCT_US:718403007|SNOMEDCT_US:83128009|UMLS:C0028961	Low output of urine, clinically classified as an output below 300-500ml/day.	http://purl.obolibrary.org/obo/HP_0100520		
OBO:HP_0100521	Neoplasm of the thymus	biolink:OntologyClass	hp	MSH:D013953|NCIT:C3262|SNOMEDCT_US:127231009|UMLS:C3714644	A tumor (abnormal growth of tissue) of the thymus.	http://purl.obolibrary.org/obo/HP_0100521		
OBO:HP_0100522	Thymoma	biolink:OntologyClass	hp	MSH:D013945|NCIT:C3411|SNOMEDCT_US:128856005|SNOMEDCT_US:444231005|UMLS:C0040100	A tumor originating from the epithelial cells of the thymus.	http://purl.obolibrary.org/obo/HP_0100522		
OBO:HP_0100523	Liver abscess	biolink:OntologyClass	hp	MSH:D008100|SNOMEDCT_US:27916005|UMLS:C0023885	The presence of an abscess of the liver.	http://purl.obolibrary.org/obo/HP_0100523		Liver abscess|Hepatic abscess
OBO:HP_0100524	Limb duplication	biolink:OntologyClass	hp	SNOMEDCT_US:34488005|UMLS:C0265551	Congenital duplication of all or part of a limb.	http://purl.obolibrary.org/obo/HP_0100524	hposlim_core	Limb duplication|Dimelia
OBO:HP_0100525	Urachus fistula	biolink:OntologyClass	hp	SNOMEDCT_US:398320008|SNOMEDCT_US:50986000|UMLS:C0345344	Persistence of the urachal canal with drainage of urine from the bladder through the persistent allantois canal to the umbilicus.	http://purl.obolibrary.org/obo/HP_0100525		
OBO:HP_0100526	Neoplasm of the lung	biolink:OntologyClass	hp	MSH:D008175|NCIT:C3262|SNOMEDCT_US:126713003|UMLS:C0024121	Tumor of the lung.	http://purl.obolibrary.org/obo/HP_0100526		Lung cancer|Lung tumor
OBO:HP_0100527	Neoplasia of the pleura	biolink:OntologyClass	hp	NCIT:C3262|UMLS:C4022033		http://purl.obolibrary.org/obo/HP_0100527		
OBO:HP_0100528	Pleuropulmonary blastoma	biolink:OntologyClass	hp	MSH:C537516|NCIT:C3732|SNOMEDCT_US:128763002|SNOMEDCT_US:707670009|UMLS:C1266144	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.	http://purl.obolibrary.org/obo/HP_0100528		
OBO:HP_0100529	Abnormal blood phosphate concentration	biolink:OntologyClass	hp	UMLS:C4022032	An abnormality of phosphate homeostasis or concentration in the body.	http://purl.obolibrary.org/obo/HP_0100529		Abnormality of phosphate homeostasis
OBO:HP_0100530	Abnormal calcium-phosphate regulating hormone level	biolink:OntologyClass	hp	UMLS:C4022031	Any deviation from the normal concentration in the blood circulation of a hormone that is involved in the regulation of phosphate and calcium.	http://purl.obolibrary.org/obo/HP_0100530		Abnormal Ca-PHOS regulating hormone level|Abnormal Ca2+ PO4 regulating hormone level
OBO:HP_0100531	Wind-swept deformity of the knees	biolink:OntologyClass	hp	UMLS:C4022030	The appearance of abnormal valgus deformity in one knee in association with varus deformity in the other.	http://purl.obolibrary.org/obo/HP_0100531		Wind-swept deformity of the knees
OBO:HP_0100532	Scleritis	biolink:OntologyClass	hp	MSH:D015423|SNOMEDCT_US:78370002|UMLS:C0036416	Inflammation of the sclera.	http://purl.obolibrary.org/obo/HP_0100532	hposlim_core	Inflammation of the outer white part of the eye
OBO:HP_0100533	Inflammatory abnormality of the eye	biolink:OntologyClass	hp	UMLS:C4020969	Inflammation of the eye, parts of the eye or the periorbital region.	http://purl.obolibrary.org/obo/HP_0100533		Inflammatory abnormality of the eye|Ocular inflammation
OBO:HP_0100534	Episcleritis	biolink:OntologyClass	hp	MSH:D015423|SNOMEDCT_US:815008|UMLS:C0014583	Inflammation of the episclera, a thin layer of tissue covering the white part (sclera) of the eye.	http://purl.obolibrary.org/obo/HP_0100534	hposlim_core	Inflammation of the thin layer on top of the white part of eye
OBO:HP_0100535	Tibiofibular diastasis	biolink:OntologyClass	hp	UMLS:C4022029		http://purl.obolibrary.org/obo/HP_0100535		
OBO:HP_0100536	Abnormality of the fascia	biolink:OntologyClass	hp	UMLS:C4022028	An abnormality of fascia.	http://purl.obolibrary.org/obo/HP_0100536		
OBO:HP_0100537	Fasciitis	biolink:OntologyClass	hp	MSH:D005208|SNOMEDCT_US:36948007|UMLS:C0015645	Inflammation of fascia, the tissue under the skin and over the muscle.	http://purl.obolibrary.org/obo/HP_0100537		Inflammation of the fascia
OBO:HP_0100538	Abnormality of the supraorbital ridges	biolink:OntologyClass	hp	UMLS:C4022027	An anomaly of the supraorbital portion of the frontal bones.	http://purl.obolibrary.org/obo/HP_0100538		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
OBO:HP_0100539	Periorbital edema	biolink:OntologyClass	hp	SNOMEDCT_US:109245003|SNOMEDCT_US:267041004|SNOMEDCT_US:49563000|UMLS:C0149754|UMLS:C0151205|UMLS:C0424810	Edema affecting the region situated around the orbit of the eye.	http://purl.obolibrary.org/obo/HP_0100539		Periorbital oedema|Periorbital cellulitis
OBO:HP_0100540	Palpebral edema	biolink:OntologyClass	hp	SNOMEDCT_US:89091004|UMLS:C0162285	Edema in the region of the eyelids.	http://purl.obolibrary.org/obo/HP_0100540		Fullness of eyelids|Puffy eyelids|Puffy lids|Swelling of eyelids|Palpebral oedema|Edema of the eyelids|Eyelid edema
OBO:HP_0100541	Femoral hernia	biolink:OntologyClass	hp	MEDDRA:10016434|MSH:D006550|SNOMEDCT_US:50063009|UMLS:C0019288	A hernia which occurs just below the inguinal ligament, where abdominal contents pass through a naturally occurring weakness called the femoral canal.	http://purl.obolibrary.org/obo/HP_0100541	hposlim_core	Crural hernia
OBO:HP_0100542	Abnormal localization of kidney	biolink:OntologyClass	hp	UMLS:C4020968	An abnormal site of the kidney.	http://purl.obolibrary.org/obo/HP_0100542		Abnormal localisation of kidneys
OBO:HP_0100543	Cognitive impairment	biolink:OntologyClass	hp	MSH:D060825|SNOMEDCT_US:386806002|UMLS:C0338656|UMLS:C0683322	Abnormality in the process of thought including the ability to process information.	http://purl.obolibrary.org/obo/HP_0100543		Abnormality of cognition|Cognitive abnormality|Cognitive defects|Cognitive deficits|Cognitive impairment|Intellectual impairment
OBO:HP_0100544	Neoplasm of the heart	biolink:OntologyClass	hp	MSH:D006338|NCIT:C3262|SNOMEDCT_US:387842002|UMLS:C0018809	A tumor (abnormal growth of tissue) of the heart.	http://purl.obolibrary.org/obo/HP_0100544		Heart tumor|Cardiac neoplasm|Cardiac neoplasia
OBO:HP_0100545	Arterial stenosis	biolink:OntologyClass	hp	SNOMEDCT_US:68109007|UMLS:C0038449	Narrowing or constriction of the inner surface (lumen) of an artery.	http://purl.obolibrary.org/obo/HP_0100545		Narrowing of an artery
OBO:HP_0100546	Carotid artery stenosis	biolink:OntologyClass	hp	MSH:D016893|SNOMEDCT_US:64586002|UMLS:C0007282	Narrowing of the carotid arteries.	http://purl.obolibrary.org/obo/HP_0100546		Narrowing of carotid artery|Carotid stenosis
OBO:HP_0100547	Abnormality of forebrain morphology	biolink:OntologyClass	hp	UMLS:C4020967	An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle.	http://purl.obolibrary.org/obo/HP_0100547		Abnormal shape of forebrain|Abnormality of the forebrain
OBO:HP_0100548	Exstrophy	biolink:OntologyClass	hp	SNOMEDCT_US:110407002|UMLS:C0015338	Eversion of a hollow organ and exposure, inside out, and protruded through the abdominal wall.	http://purl.obolibrary.org/obo/HP_0100548		
OBO:HP_0100550	Tendon rupture	biolink:OntologyClass	hp	SNOMEDCT_US:415749005|UMLS:C0151937	Breakage (tear) of a tendon.	http://purl.obolibrary.org/obo/HP_0100550		Rupture of tendons|Ruptured tendon|Tendon rupture|Tendon/muscle rupture
OBO:HP_0100551	Neoplasm of the trachea	biolink:OntologyClass	hp	MSH:D014134|NCIT:C3262|SNOMEDCT_US:126703006|UMLS:C0040582	A neoplasm of the trachea.	http://purl.obolibrary.org/obo/HP_0100551		Tracheal neoplasm
OBO:HP_0100552	Neoplasm of the tracheobronchial system	biolink:OntologyClass	hp	NCIT:C3262|UMLS:C4022026		http://purl.obolibrary.org/obo/HP_0100552		
OBO:HP_0100553	Hemihypertrophy of lower limb	biolink:OntologyClass	hp	SNOMEDCT_US:205369009|UMLS:C0431928	Overgrowth of only one leg.	http://purl.obolibrary.org/obo/HP_0100553		Overgrowth of one leg
OBO:HP_0100554	Hemihypertrophy of upper limb	biolink:OntologyClass	hp	SNOMEDCT_US:253920006|UMLS:C0431810	Overgrowth of only one arm.	http://purl.obolibrary.org/obo/HP_0100554		Overgrowth of one arm
OBO:HP_0100555	Asymmetric growth	biolink:OntologyClass	hp	UMLS:C4022025	A growth pattern that displays an abnormal difference between the left and the right side.	http://purl.obolibrary.org/obo/HP_0100555		Uneven or disproportionate growth of one body part compared to another
OBO:HP_0100556	Hemiatrophy	biolink:OntologyClass	hp	SNOMEDCT_US:34087007|UMLS:C0333662	Undergrowth of the limbs that affects only one side.	http://purl.obolibrary.org/obo/HP_0100556		Asymmetric limb shortening|Hemiatrophy of the body
OBO:HP_0100557	Hemiatrophy of lower limb	biolink:OntologyClass	hp	SNOMEDCT_US:709411004|UMLS:C0431934	Unilateral atrophy (reduction in size) of a leg.	http://purl.obolibrary.org/obo/HP_0100557		Asymmetric lower limb shortening
OBO:HP_0100558	Hemiatrophy of upper limb	biolink:OntologyClass	hp	SNOMEDCT_US:253921005|UMLS:C0431814	Unilateral atrophy (reduction in size) of an arm.	http://purl.obolibrary.org/obo/HP_0100558		Asymmetric upper limb shortening|Hemihypotrophy of upper limb
OBO:HP_0100559	Lower limb asymmetry	biolink:OntologyClass	hp	MSH:D007870|SNOMEDCT_US:45939007|UMLS:C0023221	A difference in length or diameter between the left and right leg.	http://purl.obolibrary.org/obo/HP_0100559		Left and right leg differ in length or width|Leg length discrepancy
OBO:HP_0100560	Upper limb asymmetry	biolink:OntologyClass	hp	UMLS:C4022024	Difference in length or size between the right and left arm.	http://purl.obolibrary.org/obo/HP_0100560	hposlim_core	Unequal size of arms
OBO:HP_0100561	Spinal cord lesion	biolink:OntologyClass	hp	UMLS:C0241224		http://purl.obolibrary.org/obo/HP_0100561		
OBO:HP_0100562	Diplomyelia	biolink:OntologyClass	hp	SNOMEDCT_US:360527003|UMLS:C1260890	Duplication of the spinal cord.	http://purl.obolibrary.org/obo/HP_0100562		Duplication of spinal cord
OBO:HP_0100563	Diastomatomyelia	biolink:OntologyClass	hp	UMLS:C4022023	Coexistence of two hemicords, at variable levels, causing splaying of the posterior vertebral elements. Results in neurological deficits in lower limb or perineum.	http://purl.obolibrary.org/obo/HP_0100563		
OBO:HP_0100564	Triplomyelia	biolink:OntologyClass	hp	UMLS:C4022022	Triplication of the spinal cord - extremely rare.	http://purl.obolibrary.org/obo/HP_0100564		Triplication of spinal cord
OBO:HP_0100565	Hydromyelia	biolink:OntologyClass	hp	SNOMEDCT_US:11197005|SNOMEDCT_US:74740003|UMLS:C0152444	Dilation of central canal from incomplete fusion of the posterior columns or persistence of the primitive large canal of the embryo.	http://purl.obolibrary.org/obo/HP_0100565		
OBO:HP_0100566	Amyelia	biolink:OntologyClass	hp	SNOMEDCT_US:78784005|UMLS:C0266510	Congenital absence of the spinal cord.	http://purl.obolibrary.org/obo/HP_0100566		Absent spinal cord
OBO:HP_0100568	Neoplasm of the endocrine system	biolink:OntologyClass	hp	MSH:D004701|NCIT:C3262|SNOMEDCT_US:387922007|SNOMEDCT_US:387927001|UMLS:C0014132	A tumor (abnormal growth of tissue) of the endocrine system.	http://purl.obolibrary.org/obo/HP_0100568		Endocrine neoplasia
OBO:HP_0100569	Abnormally ossified vertebrae	biolink:OntologyClass	hp	UMLS:C4020966	An abnormality of the formation and mineralization of one or more vertebrae.	http://purl.obolibrary.org/obo/HP_0100569		Abnormal bone maturation of vertebra|Abnormal vertebral ossification|Abnormality of ossification/mineralisation of vertebrae
OBO:HP_0100570	Carcinoid tumor	biolink:OntologyClass	hp	MSH:D002276|SNOMEDCT_US:189607006|SNOMEDCT_US:443492008|UMLS:C0007095	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.	http://purl.obolibrary.org/obo/HP_0100570		Carcinoid tumour|Carcinoid|Carcinoid tumors
OBO:HP_0100571	Cardiac diverticulum	biolink:OntologyClass	hp	UMLS:C4020965	A cardiac diverticulum is a rare congenital malformation which is either fibrous or muscular.	http://purl.obolibrary.org/obo/HP_0100571		Ventricular diverticulum
OBO:HP_0100572	Fibrous cardiac diverticulum	biolink:OntologyClass	hp	UMLS:C4020964	A fibrous cardiac diverticulum refers to an aneurysm and usually appears as an isolated congenital anomaly.	http://purl.obolibrary.org/obo/HP_0100572		Congenital ventricular aneurysm
OBO:HP_0100573	Muscular cardiac diverticulum	biolink:OntologyClass	hp	UMLS:C4022021		http://purl.obolibrary.org/obo/HP_0100573		
OBO:HP_0100574	Biliary tract neoplasm	biolink:OntologyClass	hp	MSH:D001661|NCIT:C3262|SNOMEDCT_US:126853008|UMLS:C0005426|UMLS:C4020709	A tumor (abnormal growth of tissue) of the biliary system.	http://purl.obolibrary.org/obo/HP_0100574		Neoplasia of the biliary tract
OBO:HP_0100575	Neoplasm of the gallbladder	biolink:OntologyClass	hp	MSH:D005706|NCIT:C3262|SNOMEDCT_US:126854002|UMLS:C0016978|UMLS:C4020708	The presence of a neoplasm of the gallbladder.	http://purl.obolibrary.org/obo/HP_0100575		Neoplasia of the gallbladder
OBO:HP_0100576	Amaurosis fugax	biolink:OntologyClass	hp	MSH:D020757|SNOMEDCT_US:88032003|UMLS:C0149793	A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition.	http://purl.obolibrary.org/obo/HP_0100576	hposlim_core	
OBO:HP_0100577	Urinary bladder inflammation	biolink:OntologyClass	hp	MSH:D003556|SNOMEDCT_US:38822007|UMLS:C0010692	Inflammation of the urinary bladder.	http://purl.obolibrary.org/obo/HP_0100577		Urinary bladder inflammation|Cystitis of the urinary bladder
OBO:HP_0100578	Lipoatrophy	biolink:OntologyClass	hp	MEDDRA:10024604|SNOMEDCT_US:248315005|UMLS:C1280433	Localized loss of fat tissue.	http://purl.obolibrary.org/obo/HP_0100578	hposlim_core	Loss of fat tissue in localized area|Atrophy of fat
OBO:HP_0100579	Mucosal telangiectasiae	biolink:OntologyClass	hp	UMLS:C4022020	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.	http://purl.obolibrary.org/obo/HP_0100579		
OBO:HP_0100580	Barrett esophagus	biolink:OntologyClass	hp	MSH:D001471|SNOMEDCT_US:302914006|UMLS:C0004763	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.	http://purl.obolibrary.org/obo/HP_0100580		Barrett oesophagus|Barret syndrome|Barrett's esophagus|Endobrachyesophagus
OBO:HP_0100581	Dilatation of renal calices	biolink:OntologyClass	hp	UMLS:C4022019	An abnormal enlargement of the renal calices, the system of ducts of the kidney that collect urine.	http://purl.obolibrary.org/obo/HP_0100581		Caliceal dilatation|Caliectasis|Megacalicosis
OBO:HP_0100582	Nasal polyposis	biolink:OntologyClass	hp	MSH:D009298|SNOMEDCT_US:52756005|UMLS:C0027430	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.	http://purl.obolibrary.org/obo/HP_0100582		Nasal polyps|Polyposis nasi|Polys of nose
OBO:HP_0100583	Corneal perforation	biolink:OntologyClass	hp	MSH:D057112|SNOMEDCT_US:74895004|UMLS:C0339293|UMLS:C0948060	A rupture of the cornea through which a portion of the iris protrudes.	http://purl.obolibrary.org/obo/HP_0100583		Iridocele
OBO:HP_0100584	Endocarditis	biolink:OntologyClass	hp	MSH:D004696|SNOMEDCT_US:56819008|UMLS:C0014118	An inflammation of the endocardium, the inner layer of the heart, which usually involves the heart valves.	http://purl.obolibrary.org/obo/HP_0100584		
OBO:HP_0100585	Telangiectasia of the skin	biolink:OntologyClass	hp	UMLS:C4022018	Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions.	http://purl.obolibrary.org/obo/HP_0100585		Teleangiectasia of the skin
OBO:HP_0100586	Sterile pyuria	biolink:OntologyClass	hp	UMLS:C4022017	Patients who routinely have greater than 20 leukocytes per microliter, but have abacterial urine, are said to have sterile pyuria.	http://purl.obolibrary.org/obo/HP_0100586		Aseptic leukocyturia
OBO:HP_0100587	Abnormality of the preputium	biolink:OntologyClass	hp	UMLS:C4022016		http://purl.obolibrary.org/obo/HP_0100587		
OBO:HP_0100588	Paraphimosis	biolink:OntologyClass	hp	MSH:D010263|SNOMEDCT_US:13758004|UMLS:C0030483	The foreskin becomes trapped behind the glans penis, and cannot be pulled back to its normal flaccid position covering the glans penis.	http://purl.obolibrary.org/obo/HP_0100588		
OBO:HP_0100589	Urogenital fistula	biolink:OntologyClass	hp	UMLS:C0853877	The presence of a fistula affecting the genitourinary system.	http://purl.obolibrary.org/obo/HP_0100589		
OBO:HP_0100590	Rectal fistula	biolink:OntologyClass	hp	MSH:D012003|SNOMEDCT_US:80736008|UMLS:C0034884	The presence of a fistula affecting the rectum.	http://purl.obolibrary.org/obo/HP_0100590		
OBO:HP_0100592	Peritoneal abscess	biolink:OntologyClass	hp	SNOMEDCT_US:73962000|UMLS:C0267756	The presence of an abscess of the peritoneum.	http://purl.obolibrary.org/obo/HP_0100592		
OBO:HP_0100593	Calcification of cartilage	biolink:OntologyClass	hp	UMLS:C4022015		http://purl.obolibrary.org/obo/HP_0100593		
OBO:HP_0100594	Esophageal web	biolink:OntologyClass	hp	SNOMEDCT_US:19216006|SNOMEDCT_US:22395006|UMLS:C0267080	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).	http://purl.obolibrary.org/obo/HP_0100594	hposlim_core	
OBO:HP_0100595	Camptocormia	biolink:OntologyClass	hp	MSH:C537968|SNOMEDCT_US:13534001|UMLS:C0264162	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.	http://purl.obolibrary.org/obo/HP_0100595	hposlim_core	
OBO:HP_0100596	Absent nares	biolink:OntologyClass	hp	UMLS:C4020707|UMLS:C4020963	The nostrils (the paired channels of the nose) are not present.	http://purl.obolibrary.org/obo/HP_0100596		Missing nostrils|Abouphalia|Aplasia of the nares|Aplasia/Hypoplasia of the nares
OBO:HP_0100598	Pulmonary edema	biolink:OntologyClass	hp	MSH:D011654|SNOMEDCT_US:19242006|UMLS:C0034063	Fluid accumulation in the lungs.	http://purl.obolibrary.org/obo/HP_0100598		Excess fluid in lungs|Wet lung|Lung edema|Pulmonary oedema
OBO:HP_0100599	Bifid penis	biolink:OntologyClass	hp	SNOMEDCT_US:253851000|UMLS:C0345322	Two penile structures, separated from the tip to the base of the shaft.	http://purl.obolibrary.org/obo/HP_0100599		Penile duplication|Diphallia
OBO:HP_0100600	Penoscrotal transposition	biolink:OntologyClass	hp	MSH:C536650|SNOMEDCT_US:312005008|UMLS:C1868854	A partial or complete positional exchange between the penis and the scrotum, with positioning of the scrotum superior to the penis.	http://purl.obolibrary.org/obo/HP_0100600		Prepenile scrotum
OBO:HP_0100601	Eclampsia	biolink:OntologyClass	hp	MSH:D004461|SNOMEDCT_US:15938005|UMLS:C0013537	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.	http://purl.obolibrary.org/obo/HP_0100601		
OBO:HP_0100602	Preeclampsia	biolink:OntologyClass	hp	MSH:D011225|SNOMEDCT_US:15394000|SNOMEDCT_US:398254007|UMLS:C0032914	Pregnancy-induced hypertension in association with significant amounts of protein in the urine.	http://purl.obolibrary.org/obo/HP_0100602		Pre-eclampsia
OBO:HP_0100603	Toxemia of pregnancy	biolink:OntologyClass	hp	MSH:D011225|SNOMEDCT_US:15394000|SNOMEDCT_US:398254007|UMLS:C0032914	Pregnancy-induced toxic reactions of the mother that can be as harmless as slight Maternal hypertension or as life threatening as Eclampsia.	http://purl.obolibrary.org/obo/HP_0100603		Toxaemia of pregnancy|Hypertensive disorder of pregnancy
OBO:HP_0100604	Neoplasm of the lip	biolink:OntologyClass	hp	MSH:D008048|NCIT:C3262|SNOMEDCT_US:126770008|UMLS:C0023761|UMLS:C4020706	A tumor (abnormal growth of tissue) of the lip.	http://purl.obolibrary.org/obo/HP_0100604		Lip tumor|Tumor of the lip|Neoplasia of the lip
OBO:HP_0100605	Neoplasm of the larynx	biolink:OntologyClass	hp	MSH:D007822|NCIT:C3262|SNOMEDCT_US:126692004|UMLS:C0023055		http://purl.obolibrary.org/obo/HP_0100605		
OBO:HP_0100606	Neoplasm of the respiratory system	biolink:OntologyClass	hp	MSH:D012142|NCIT:C3262|SNOMEDCT_US:126667002|SNOMEDCT_US:448708002|UMLS:C0035244	A tumor (abnormal growth of tissue) of the respiratory system.	http://purl.obolibrary.org/obo/HP_0100606		Respiratory system tumor
OBO:HP_0100607	Dysmenorrhea	biolink:OntologyClass	hp	MSH:D004412|SNOMEDCT_US:266599000|SNOMEDCT_US:289900009|SNOMEDCT_US:431416001|UMLS:C0013390	Pain during menstruation that interferes with daily activities.	http://purl.obolibrary.org/obo/HP_0100607		Painful menstruation
OBO:HP_0100608	Metrorrhagia	biolink:OntologyClass	hp	MSH:D008796|SNOMEDCT_US:19155002|SNOMEDCT_US:237130006|SNOMEDCT_US:64996003|UMLS:C0025874	Bleeding at irregular intervals.	http://purl.obolibrary.org/obo/HP_0100608		Abnormal uterus bleeding|Intermenstrual bleeding|Menstrual spotting
OBO:HP_0100609	obsolete Hypermenorrhea	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0100609		
OBO:HP_0100610	Maternal hyperphenylalaninemia	biolink:OntologyClass	hp	UMLS:C4022014	A medical history of exposure during the fetal period to hyperphenylalaninemia because the mother had phenylketonuria with inadequate control during pregnancy.	http://purl.obolibrary.org/obo/HP_0100610		High blood phenylalanine level in mother
OBO:HP_0100611	Multiple glomerular cysts	biolink:OntologyClass	hp	UMLS:C4020705|UMLS:C4022013	The presence of many cysts in the glomerulus of the kidney related to dilatation of the Bowman's capsule.	http://purl.obolibrary.org/obo/HP_0100611		Glomerulocystic kidney disease
OBO:HP_0100612	Odontogenic neoplasm	biolink:OntologyClass	hp	MSH:D009808|NCIT:C3286|SNOMEDCT_US:127578009|SNOMEDCT_US:3833004|UMLS:C0028880	Neoplasm involving odontogenic cells, an odontogenic tumor.	http://purl.obolibrary.org/obo/HP_0100612	hposlim_core	Odontogenic tumor
OBO:HP_0100613	Death in early adulthood	biolink:OntologyClass	hp	UMLS:C4022012	Death between the age of 16 and 40 years.	http://purl.obolibrary.org/obo/HP_0100613		Death in early adulthood
OBO:HP_0100614	Myositis	biolink:OntologyClass	hp	MSH:D009220|SNOMEDCT_US:128496001|SNOMEDCT_US:26889001|UMLS:C0027121	A general term for inflammation of the muscles without respect to the underlying cause.	http://purl.obolibrary.org/obo/HP_0100614		Muscle inflammation
OBO:HP_0100615	Ovarian neoplasm	biolink:OntologyClass	hp	MSH:D010051|NCIT:C3262|SNOMEDCT_US:123843001|UMLS:C0919267	A tumor (abnormal growth of tissue) of the ovary.	http://purl.obolibrary.org/obo/HP_0100615		Ovarian cancer|Ovarian tumor|Neoplasm of the ovaries|Neoplasm of the ovary|Ovarian neoplasia
OBO:HP_0100616	Testicular teratoma	biolink:OntologyClass	hp	MSH:C562472|NCIT:C3403|UMLS:C0238451	The presence of a teratoma of the testis.	http://purl.obolibrary.org/obo/HP_0100616		
OBO:HP_0100617	Testicular seminoma	biolink:OntologyClass	hp	MSH:D018239|NCIT:C9309|SNOMEDCT_US:255107005|SNOMEDCT_US:36741007|SNOMEDCT_US:443675005|UMLS:C0036631	The presence of a seminoma, an undifferentiated germ cell tumor of the testis.	http://purl.obolibrary.org/obo/HP_0100617		
OBO:HP_0100618	Leydig cell neoplasia	biolink:OntologyClass	hp	NCIT:C3188|UMLS:C4022011	The presence of a neoplasm of the testis with origin in a Leydig cell.	http://purl.obolibrary.org/obo/HP_0100618		
OBO:HP_0100619	Sertoli cell neoplasm	biolink:OntologyClass	hp	NCIT:C39976|UMLS:C4020704	The presence of a neoplasm of the testis with origin in a Sertoli cell.	http://purl.obolibrary.org/obo/HP_0100619		Sertoli cell neoplasia
OBO:HP_0100620	Germinoma	biolink:OntologyClass	hp	MSH:D018237|SNOMEDCT_US:28307001|UMLS:C0206660	A type of undifferentiated germ cell tumor that may be benign or malignant.	http://purl.obolibrary.org/obo/HP_0100620		
OBO:HP_0100621	Dysgerminoma	biolink:OntologyClass	hp	MSH:D004407|NCIT:C2996|SNOMEDCT_US:60718004|UMLS:C0013377	The presence of a dysgerminoma, i.e., an undifferentiated germ cell tumor of the ovary.	http://purl.obolibrary.org/obo/HP_0100621		
OBO:HP_0100622	Maternal seizure	biolink:OntologyClass	hp	UMLS:C4022010	A seizure during pregnancy.	http://purl.obolibrary.org/obo/HP_0100622		Maternal seizures
OBO:HP_0100623	Abnormality of corpus cavernosum	biolink:OntologyClass	hp	UMLS:C4022009		http://purl.obolibrary.org/obo/HP_0100623		
OBO:HP_0100624	Corpus cavernosum sclerosis	biolink:OntologyClass	hp	UMLS:C4022008		http://purl.obolibrary.org/obo/HP_0100624		
OBO:HP_0100625	Enlarged thorax	biolink:OntologyClass	hp	UMLS:C4020962		http://purl.obolibrary.org/obo/HP_0100625		Wide rib cage|Wide thorax
OBO:HP_0100626	Chronic hepatic failure	biolink:OntologyClass	hp	MSH:D058625|SNOMEDCT_US:235886005|UMLS:C2936476		http://purl.obolibrary.org/obo/HP_0100626		Chronic liver failure
OBO:HP_0100627	Displacement of the urethral meatus	biolink:OntologyClass	hp	UMLS:C4020961	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).	http://purl.obolibrary.org/obo/HP_0100627		Displacement of the external urethral orifice|Displacement of the male external urethral orifice
OBO:HP_0100628	Esophageal diverticulum	biolink:OntologyClass	hp	MSH:D004936|SNOMEDCT_US:204667006|SNOMEDCT_US:414133009|UMLS:C0014854	The presence of a diverticulum of the esophagus.	http://purl.obolibrary.org/obo/HP_0100628		Esophageal pouch
OBO:HP_0100629	Midline facial cleft	biolink:OntologyClass	hp	UMLS:C4022007	A congenital malformation with a cleft (gap or opening) in the midline of the face.	http://purl.obolibrary.org/obo/HP_0100629		Midline facial cleft
OBO:HP_0100630	Neoplasia of the nasopharynx	biolink:OntologyClass	hp	MSH:D009303|NCIT:C3262|SNOMEDCT_US:126680004|UMLS:C0027439		http://purl.obolibrary.org/obo/HP_0100630		Nasopharyngeal neoplasm|Neoplasm of the nasopharynx|Tumor of the nasopharynx
OBO:HP_0100631	Neoplasm of the adrenal gland	biolink:OntologyClass	hp	MSH:D000310|NCIT:C3262|SNOMEDCT_US:127021009|UMLS:C0001624	A tumor (abnormal growth of tissue) of the adrenal gland.	http://purl.obolibrary.org/obo/HP_0100631		Adrenal neoplasia
OBO:HP_0100632	Pulmonary sequestration	biolink:OntologyClass	hp	MSH:D001998|SNOMEDCT_US:18620009|UMLS:C0006288|UMLS:C4020703	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).	http://purl.obolibrary.org/obo/HP_0100632		Cystic lung lesion
OBO:HP_0100633	Esophagitis	biolink:OntologyClass	hp	MEDDRA:10030216|MSH:D004941|SNOMEDCT_US:16761005|UMLS:C0014868	Inflammation of the esophagus.	http://purl.obolibrary.org/obo/HP_0100633	hposlim_core	Inflammation of the esophagus|Oesophagitis
OBO:HP_0100634	Neuroendocrine neoplasm	biolink:OntologyClass	hp	MSH:D018358|SNOMEDCT_US:128928004|SNOMEDCT_US:255046005|UMLS:C0206754	A tumor that originates from a neuroendocrine cell.	http://purl.obolibrary.org/obo/HP_0100634		Neuroendocrine neoplasia
OBO:HP_0100635	Carotid paraganglioma	biolink:OntologyClass	hp	UMLS:C4022005	A paraganglioma (a neuroendocrine neoplasm) originating in a carotid artery.	http://purl.obolibrary.org/obo/HP_0100635		
OBO:HP_0100636	Pulmonary paraglioma	biolink:OntologyClass	hp	UMLS:C4022004	A rare paranglioma of the lung, tumors that arise from extra-adrenal chromaffin cells.	http://purl.obolibrary.org/obo/HP_0100636		
OBO:HP_0100637	obsolete Neoplasia of the nose	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0100637		
OBO:HP_0100638	Neoplasm of the pharynx	biolink:OntologyClass	hp	MSH:D010610|NCIT:C3262|SNOMEDCT_US:126685009|UMLS:C0031347	A neoplasm originating in the pharynx.	http://purl.obolibrary.org/obo/HP_0100638		Neoplasia of the pharynx|Pharyngeal neoplasm|Tumor of the pharynx
OBO:HP_0100639	Erectile dysfunction	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0100639		Abnormal erection|Erectile abnormalities
OBO:HP_0100640	Laryngeal cyst	biolink:OntologyClass	hp	SNOMEDCT_US:195867000|UMLS:C0339880	Presence of a cyst (sac-like structure) located in the larynx.	http://purl.obolibrary.org/obo/HP_0100640		
OBO:HP_0100641	Neoplasm of the adrenal cortex	biolink:OntologyClass	hp	MSH:D000306|NCIT:C3262|SNOMEDCT_US:127022002|SNOMEDCT_US:18365006|UMLS:C0001618	The presence of a neoplasm of the adrenal cortex.	http://purl.obolibrary.org/obo/HP_0100641		Cortical adrenal neoplasia
OBO:HP_0100642	Neoplasm of the adrenal medulla	biolink:OntologyClass	hp	NCIT:C3262|SNOMEDCT_US:127023007|UMLS:C0596046	The presence of a neoplasm of the adrenal medulla.	http://purl.obolibrary.org/obo/HP_0100642		Medullar adrenal neoplasia
OBO:HP_0100643	Abnormality of nail color	biolink:OntologyClass	hp	UMLS:C4020960	An anomaly of the color of the nail.	http://purl.obolibrary.org/obo/HP_0100643		Abnormality of nail color|Abnormality of nail colour|Nail dyschromia
OBO:HP_0100644	Melanonychia	biolink:OntologyClass	hp	MEDDRA:10058330|SNOMEDCT_US:402633003|UMLS:C1142305	Brown or black discoloration of the nails.	http://purl.obolibrary.org/obo/HP_0100644		
OBO:HP_0100645	Cystocele	biolink:OntologyClass	hp	ICD-9:618.00|SNOMEDCT_US:252005008|UMLS:C1394494	Anterior vaginal wall prolapse with bulging of the bladder into the vagina.	http://purl.obolibrary.org/obo/HP_0100645		Bladder hernia|Dropped bladder|Bladder prolapse|Prolapsed bladder
OBO:HP_0100646	Thyroiditis	biolink:OntologyClass	hp	MSH:D013966|SNOMEDCT_US:82119001|UMLS:C0040147	Inflammation of the thyroid gland.	http://purl.obolibrary.org/obo/HP_0100646		Thyroid gland inflammation
OBO:HP_0100647	Graves disease	biolink:OntologyClass	hp	MSH:D006111|SNOMEDCT_US:353295004|SNOMEDCT_US:55807009|UMLS:C0018213	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.	http://purl.obolibrary.org/obo/HP_0100647		Morbus Basedow
OBO:HP_0100648	Neoplasm of the tongue	biolink:OntologyClass	hp	MSH:D014062|NCIT:C3262|SNOMEDCT_US:126778001|UMLS:C0040411	A tumor (abnormal growth of tissue) of the tongue.	http://purl.obolibrary.org/obo/HP_0100648		
OBO:HP_0100649	Neoplasm of the oral cavity	biolink:OntologyClass	hp	MSH:D009062|NCIT:C3262|SNOMEDCT_US:1071000119107|SNOMEDCT_US:126797001|SNOMEDCT_US:235075007|UMLS:C0026640|UMLS:C0149744|UMLS:C4280289	A tumor (abnormal growth of tissue) of the oral cavity.	http://purl.obolibrary.org/obo/HP_0100649		Tumor of oral cavity|Lesion of oral cavity
OBO:HP_0100650	Vaginal neoplasm	biolink:OntologyClass	hp	MSH:D014625|NCIT:C3262|SNOMEDCT_US:126921000|UMLS:C0042258|UMLS:C0750081	A tumor (abnormal growth of tissue) of the vagina.	http://purl.obolibrary.org/obo/HP_0100650		Vaginal tumor|Vaginal neoplasia
OBO:HP_0100651	Type I diabetes mellitus	biolink:OntologyClass	hp	MSH:D003922|SNOMEDCT_US:46635009|UMLS:C0011854	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.	http://purl.obolibrary.org/obo/HP_0100651		Type 1 diabetes|Type I diabetes|Diabetes mellitus Type I|Juvenile diabetes mellitus|Insulin-dependent diabetes mellitus
OBO:HP_0100653	Optic neuritis	biolink:OntologyClass	hp	MSH:D009902|SNOMEDCT_US:66760008|UMLS:C0029134	Inflammation of the optic nerve.	http://purl.obolibrary.org/obo/HP_0100653		
OBO:HP_0100654	Retrobulbar optic neuritis	biolink:OntologyClass	hp	MSH:D009902|SNOMEDCT_US:230507009|UMLS:C0085582	Optic neuritis that occurs in the section of the optic nerve located behind the eyeball.	http://purl.obolibrary.org/obo/HP_0100654		Retrobulbar neuritis
OBO:HP_0100656	Thoracoabdominal wall defect	biolink:OntologyClass	hp	UMLS:C4022002	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.	http://purl.obolibrary.org/obo/HP_0100656		Thoracoabdominal schisis
OBO:HP_0100657	Thoracoabdominal eventration	biolink:OntologyClass	hp	SNOMEDCT_US:44518003|UMLS:C0266682	Congenital protrusion of the abdominal or thoracic viscera, usually with a defect of the sternum and ribs as well as of the abdominal walls.	http://purl.obolibrary.org/obo/HP_0100657		Celosomia|Kelosomia
OBO:HP_0100658	Cellulitis	biolink:OntologyClass	hp	MSH:D002481|MSH:D017192|SNOMEDCT_US:128045006|SNOMEDCT_US:128936008|SNOMEDCT_US:385627004|UMLS:C0007642|UMLS:C0162627	A bacterial infection and inflammation of the skin und subcutaneous tissues.	http://purl.obolibrary.org/obo/HP_0100658	hposlim_core	Bacterial infection of skin|Skin infection|Skin infections
OBO:HP_0100659	Abnormality of the cerebral vasculature	biolink:OntologyClass	hp	UMLS:C4022001	An anomaly of the cerebral blood vessels.	http://purl.obolibrary.org/obo/HP_0100659		Abnormality of the cerebral blood vessels
OBO:HP_0100660	Dyskinesia	biolink:OntologyClass	hp	MSH:D020820|SNOMEDCT_US:9748009|UMLS:C0013384	A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements.	http://purl.obolibrary.org/obo/HP_0100660		Disorder of involuntary muscle movements|Dyskinesis|Dyskinesias
OBO:HP_0100661	Trigeminal neuralgia	biolink:OntologyClass	hp	MSH:D014277|SNOMEDCT_US:31681005|UMLS:C0040997	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.	http://purl.obolibrary.org/obo/HP_0100661		Tic douloureux
OBO:HP_0100662	Chondritis	biolink:OntologyClass	hp	SNOMEDCT_US:46176001|UMLS:C0008439	Inflammation of cartilage.	http://purl.obolibrary.org/obo/HP_0100662		Cartilage inflammation
OBO:HP_0100663	Synotia	biolink:OntologyClass	hp	SNOMEDCT_US:77471004|UMLS:C0266677	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.	http://purl.obolibrary.org/obo/HP_0100663		
OBO:HP_0100665	Angioedema	biolink:OntologyClass	hp	MSH:D000799|SNOMEDCT_US:400075008|SNOMEDCT_US:41291007|UMLS:C0002994	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.	http://purl.obolibrary.org/obo/HP_0100665		Angioneurotic oedema|Angiooedema|Quincke edema
OBO:HP_0100668	Intestinal duplication	biolink:OntologyClass	hp	SNOMEDCT_US:3845008|UMLS:C0266166|UMLS:C4020702	A developmental disorder in which there is a duplication the entire intestine or of a portion of the intestine.	http://purl.obolibrary.org/obo/HP_0100668		Bowel duplication|Gut duplication
OBO:HP_0100669	Abnormal pigmentation of the oral mucosa	biolink:OntologyClass	hp	UMLS:C4020959	An abnormality of the pigmentation of the mucosa of the mouth.	http://purl.obolibrary.org/obo/HP_0100669		Abnormal color of the oral mucosa|Abnormal pigmentation of oral cavity|Abnormal pigmentation of oral mucous membrane|Abnormal pigmentation of the oral mucosa/gingivae
OBO:HP_0100670	Coarse metaphyseal trabecularization	biolink:OntologyClass	hp	UMLS:C4020958	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.	http://purl.obolibrary.org/obo/HP_0100670		Coarse trabeculation at metaphyses|Rough bone trabeculation|Rough trabeculation of bone
OBO:HP_0100671	Abnormal trabecular bone morphology	biolink:OntologyClass	hp	UMLS:C4020957	Abnormal structure or form of trabecular bone.	http://purl.obolibrary.org/obo/HP_0100671		Abnormal shape of spongy bone|Abnormality of bone trabeculation
OBO:HP_0100672	Vaginal hernia	biolink:OntologyClass	hp	SNOMEDCT_US:397786004|UMLS:C1442998	The presence of a hernia of the vagina.	http://purl.obolibrary.org/obo/HP_0100672		
OBO:HP_0100673	Vaginal hydrocele	biolink:OntologyClass	hp	MSH:D006848|SNOMEDCT_US:26614003|SNOMEDCT_US:386152007|SNOMEDCT_US:55434001|UMLS:C1720771		http://purl.obolibrary.org/obo/HP_0100673		
OBO:HP_0100674	Vaginal hematocele	biolink:OntologyClass	hp	UMLS:C1456401		http://purl.obolibrary.org/obo/HP_0100674		
OBO:HP_0100675	Vaginal pyocele	biolink:OntologyClass	hp	UMLS:C4022000		http://purl.obolibrary.org/obo/HP_0100675		
OBO:HP_0100676	Vaginal lymphocele	biolink:OntologyClass	hp	UMLS:C4021999		http://purl.obolibrary.org/obo/HP_0100676		
OBO:HP_0100677	Vulval varicose vein	biolink:OntologyClass	hp	SNOMEDCT_US:48868008|UMLS:C0155796	Varicosity of veins in the vulval region.	http://purl.obolibrary.org/obo/HP_0100677		
OBO:HP_0100678	Premature skin wrinkling	biolink:OntologyClass	hp	MEDDRA:10040954|MSH:D015595|SNOMEDCT_US:247434009|UMLS:C0037301	The presence of an increased degree of wrinkling (irregular folds and indentations) of the skin as compared with age-related norms.	http://purl.obolibrary.org/obo/HP_0100678	hposlim_core	Premature skin wrinkling|Wrinkled skin
OBO:HP_0100679	Lack of skin elasticity	biolink:OntologyClass	hp	SNOMEDCT_US:297957009|UMLS:C0558242|UMLS:C4021998		http://purl.obolibrary.org/obo/HP_0100679		Tight skin
OBO:HP_0100681	Esophageal duplication	biolink:OntologyClass	hp	SNOMEDCT_US:66865009|UMLS:C0266135	A developmental disorder in which there is a duplication of a portion of the muscle and submucosa of the esophagus without epithelial duplication.	http://purl.obolibrary.org/obo/HP_0100681		
OBO:HP_0100682	Tracheal atresia	biolink:OntologyClass	hp	SNOMEDCT_US:53189005|UMLS:C0265766	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.	http://purl.obolibrary.org/obo/HP_0100682		
OBO:HP_0100684	Salivary gland neoplasm	biolink:OntologyClass	hp	MSH:D012468|NCIT:C3262|SNOMEDCT_US:235132004|SNOMEDCT_US:255072001|UMLS:C0036095|UMLS:C0220636	A tumor (abnormal growth of tissue) of a salivary gland.	http://purl.obolibrary.org/obo/HP_0100684		Tumor of salivary gland|Cancer of salivary gland|Salivary gland neoplasia
OBO:HP_0100685	Abnormal Sharpey fiber morphology	biolink:OntologyClass	hp	UMLS:C4020701|UMLS:C4021997	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.	http://purl.obolibrary.org/obo/HP_0100685		Abnormal Sharpey fibre morphology|Abnormality of Sharpey fibers|Enthesis abnormality
OBO:HP_0100686	Enthesitis	biolink:OntologyClass	hp	SNOMEDCT_US:359643005|UMLS:C1282952		http://purl.obolibrary.org/obo/HP_0100686		Inflammation of sharpey fibers
OBO:HP_0100687	Polyotia	biolink:OntologyClass	hp	SNOMEDCT_US:35547002|UMLS:C0266611	The presence of an extra auricle on one or both sides of the head.	http://purl.obolibrary.org/obo/HP_0100687		
OBO:HP_0100689	Decreased corneal thickness	biolink:OntologyClass	hp	SNOMEDCT_US:423459005|UMLS:C1096274	A decreased anteroposterior thickness of the cornea.	http://purl.obolibrary.org/obo/HP_0100689		Thin cornea
OBO:HP_0100690	Mosaic central corneal dystrophy	biolink:OntologyClass	hp	UMLS:C4021996		http://purl.obolibrary.org/obo/HP_0100690		
OBO:HP_0100691	Abnormality of the curvature of the cornea	biolink:OntologyClass	hp	UMLS:C4021995		http://purl.obolibrary.org/obo/HP_0100691		
OBO:HP_0100692	Increased corneal curvature	biolink:OntologyClass	hp	UMLS:C4020956	An increase in the degree of curvature of the cornea compared to normal.	http://purl.obolibrary.org/obo/HP_0100692		Steep corneal curvature
OBO:HP_0100693	Iridodonesis	biolink:OntologyClass	hp	SNOMEDCT_US:118166004|UMLS:C0423320	Tremulousness of the iris on movement of the eye, occurring in subluxation of the lens.	http://purl.obolibrary.org/obo/HP_0100693		
OBO:HP_0100694	Tibial torsion	biolink:OntologyClass	hp	SNOMEDCT_US:249785006|UMLS:C0426900	Tibial torsion is inward twisting (medial rotation) (PATO:0002155) of the tibia.	http://purl.obolibrary.org/obo/HP_0100694		
OBO:HP_0100695	Lipedema	biolink:OntologyClass	hp	MSH:D065134|SNOMEDCT_US:234102003|UMLS:C0398370	Excess deposit and expansion of adipose tissue in an unusual pattern which cannot be lost through diet and exercise .	http://purl.obolibrary.org/obo/HP_0100695		
OBO:HP_0100697	Neurofibrosarcoma	biolink:OntologyClass	hp	MSH:D009442|MSH:D018319|NCIT:C3798|SNOMEDCT_US:19897006|SNOMEDCT_US:404037002|SNOMEDCT_US:77418004|UMLS:C0206729|UMLS:C0751690	A form of malignant cancer of the connective tissue surrounding nerves. Given its origin and behavior, it is classified as a sarcoma.	http://purl.obolibrary.org/obo/HP_0100697		Malignant peripheral nerve sheath tumor|Malignant schwannoma|Neurosarcoma
OBO:HP_0100698	Subcutaneous neurofibromas	biolink:OntologyClass	hp	SNOMEDCT_US:425327002|UMLS:C1827970	The presence of Neurofibromas in the subcutis.	http://purl.obolibrary.org/obo/HP_0100698		
OBO:HP_0100699	Scarring	biolink:OntologyClass	hp	MSH:D002921|SNOMEDCT_US:48677004|UMLS:C0008767		http://purl.obolibrary.org/obo/HP_0100699		Scarring|Scar tissue
OBO:HP_0100700	Abnormal arachnoid mater morphology	biolink:OntologyClass	hp	UMLS:C4020955	An abnormality of the Arachnoid mater.	http://purl.obolibrary.org/obo/HP_0100700		Abnormality of the arachnoid mater|Abnormality of the arachnoidea
OBO:HP_0100701	Abnormal pia mater	biolink:OntologyClass	hp	UMLS:C4021994	An abnormality of the pia mater.	http://purl.obolibrary.org/obo/HP_0100701		Abnormality of the pia mater
OBO:HP_0100702	Arachnoid cyst	biolink:OntologyClass	hp	MSH:D016080|SNOMEDCT_US:33595009|UMLS:C0078981	An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0100702		Fluid-filled sac located in membrane surrounding brain or spinal cord|Arachnoid cysts
OBO:HP_0100703	Tongue thrusting	biolink:OntologyClass	hp	SNOMEDCT_US:110343009|SNOMEDCT_US:424583005|UMLS:C1829460		http://purl.obolibrary.org/obo/HP_0100703		Tongue thrusting
OBO:HP_0100704	Cerebral visual impairment	biolink:OntologyClass	hp	MSH:D019575|SNOMEDCT_US:413924001|SNOMEDCT_US:68574006|UMLS:C0155320|UMLS:C4048268	A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye.	http://purl.obolibrary.org/obo/HP_0100704		CVI|Cortical blindness|Cortical visual impairment|Cortical/cerebral visual impairment
OBO:HP_0100705	Abnormal glial cell morphology	biolink:OntologyClass	hp	UMLS:C4021993	An abnormality of the glia cell.	http://purl.obolibrary.org/obo/HP_0100705		Abnormality of the glial cells
OBO:HP_0100706	Abnormal oligodendroglia morphology	biolink:OntologyClass	hp	UMLS:C4021992	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.	http://purl.obolibrary.org/obo/HP_0100706		Abnormality of the oligodendroglia
OBO:HP_0100707	Abnormal astrocyte morphology	biolink:OntologyClass	hp	UMLS:C4021991	An abnormality of astrocytes.	http://purl.obolibrary.org/obo/HP_0100707		Abnormality of the astrocytes
OBO:HP_0100708	Abnormal microglia morphology	biolink:OntologyClass	hp	UMLS:C4021990	An abnormality of the microglial cells. They are also known as brain-resident macrophages or hortega cells.	http://purl.obolibrary.org/obo/HP_0100708		Abnormality of the microglia
OBO:HP_0100709	Reduction of oligodendroglia	biolink:OntologyClass	hp	UMLS:C4021852		http://purl.obolibrary.org/obo/HP_0100709		
OBO:HP_0100710	Impulsivity	biolink:OntologyClass	hp	MSH:D007175|UMLS:C0021125	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.	http://purl.obolibrary.org/obo/HP_0100710		Impulsive|Impulsivity
OBO:HP_0100711	Abnormal thoracic spine morphology	biolink:OntologyClass	hp	UMLS:C4021989	An abnormality of the thoracic vertebral column.	http://purl.obolibrary.org/obo/HP_0100711		Abnormality of the thoracic spine
OBO:HP_0100712	Abnormal lumbar spine morphology	biolink:OntologyClass	hp	UMLS:C4021988	Any structural abnormality of the lumbar vertebral column.	http://purl.obolibrary.org/obo/HP_0100712		Abnormality of the lumbar spine
OBO:HP_0100716	Self-injurious behavior	biolink:OntologyClass	hp	MSH:D016728|SNOMEDCT_US:248062006|UMLS:C0085271	Aggression towards oneself.	http://purl.obolibrary.org/obo/HP_0100716		Self-injurious behavior|Self-injurious behaviour|Self-injurious behaviors|Autoagression|Self injury|Self-harm
OBO:HP_0100717	Abnormality of the cementum	biolink:OntologyClass	hp	UMLS:C4021987		http://purl.obolibrary.org/obo/HP_0100717		
OBO:HP_0100718	Uterine rupture	biolink:OntologyClass	hp	MSH:D014597|SNOMEDCT_US:34430009|UMLS:C0042143		http://purl.obolibrary.org/obo/HP_0100718		
OBO:HP_0100719	Lens coloboma	biolink:OntologyClass	hp	SNOMEDCT_US:204134008|UMLS:C0344516	A sectoral indentation of the crystalline lens, usually due to zonular weakness or absence.	http://purl.obolibrary.org/obo/HP_0100719	hposlim_core	
OBO:HP_0100720	Hypoplasia of the ear cartilage	biolink:OntologyClass	hp	UMLS:C4021986		http://purl.obolibrary.org/obo/HP_0100720		Underdeveloped ear cartilage
OBO:HP_0100721	Mediastinal lymphadenopathy	biolink:OntologyClass	hp	SNOMEDCT_US:52324001|UMLS:C0520743	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.	http://purl.obolibrary.org/obo/HP_0100721		Swollen lymph nodes in center of chest
OBO:HP_0100723	Gastrointestinal stroma tumor	biolink:OntologyClass	hp	MSH:D046152|SNOMEDCT_US:128755003|SNOMEDCT_US:420120006|UMLS:C0238198		http://purl.obolibrary.org/obo/HP_0100723		GI stroma tumor|GIST|Gastrointestinal stroma tumour|Gastrointestinal stromal tumor|Gastrointestinal stromal tumors
OBO:HP_0100724	Hypercoagulability	biolink:OntologyClass	hp	MSH:D019851|SNOMEDCT_US:234467004|SNOMEDCT_US:76612001|UMLS:C0398623	An abnormality of coagulation associated with an increased risk of thrombosis.	http://purl.obolibrary.org/obo/HP_0100724		Blood hyperviscosity|Thrombophilia
OBO:HP_0100725	Lichenification	biolink:OntologyClass	hp	SNOMEDCT_US:19940005|SNOMEDCT_US:402237006|UMLS:C0023653	Thickening and hardening of the epidermis seen with exaggeration of normal skin lines.	http://purl.obolibrary.org/obo/HP_0100725		
OBO:HP_0100726	Kaposi's sarcoma	biolink:OntologyClass	hp	MSH:D012514|SNOMEDCT_US:109385007|SNOMEDCT_US:49937004|UMLS:C0036220	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).	http://purl.obolibrary.org/obo/HP_0100726		
OBO:HP_0100727	Histiocytosis	biolink:OntologyClass	hp	MSH:D015614|SNOMEDCT_US:60657004|SNOMEDCT_US:65396000|UMLS:C0019618	An excessive number of histiocytes (tissue macrophages).	http://purl.obolibrary.org/obo/HP_0100727		
OBO:HP_0100728	Germ cell neoplasia	biolink:OntologyClass	hp	NCIT:C3708|UMLS:C4021985		http://purl.obolibrary.org/obo/HP_0100728		
OBO:HP_0100729	Large face	biolink:OntologyClass	hp	UMLS:C2748652		http://purl.obolibrary.org/obo/HP_0100729		Big face|Large face|Large facies
OBO:HP_0100730	Bronchogenic cyst	biolink:OntologyClass	hp	MSH:D001994|SNOMEDCT_US:268194008|SNOMEDCT_US:9550003|UMLS:C0006281	A rare congenital cystic lesion of the lungs in the mediastinum.	http://purl.obolibrary.org/obo/HP_0100730		
OBO:HP_0100731	Transverse facial cleft	biolink:OntologyClass	hp	UMLS:C4020954	A horizontal cleft of the face, varying from slight widening of the mouth, to a cleft extending to the ear.	http://purl.obolibrary.org/obo/HP_0100731		Lateral facial cleft
OBO:HP_0100732	Pancreatic fibrosis	biolink:OntologyClass	hp	SNOMEDCT_US:25942009|UMLS:C0267952		http://purl.obolibrary.org/obo/HP_0100732		
OBO:HP_0100733	Neoplasm of the parathyroid gland	biolink:OntologyClass	hp	MSH:D010282|NCIT:C3262|SNOMEDCT_US:127020005|UMLS:C0030521	A tumor (abnormal growth of tissue) of the parathyroid gland.	http://purl.obolibrary.org/obo/HP_0100733		Parathyroid neoplasia
OBO:HP_0100734	Abnormality of vertebral epiphysis morphology	biolink:OntologyClass	hp	UMLS:C4020953	An anomaly of one or more epiphyses of one or more vertebrae.	http://purl.obolibrary.org/obo/HP_0100734		Abnormal shape of the end part of the vertebra bone|Abnormality of the vertebral epiphyses
OBO:HP_0100735	Hypertensive crisis	biolink:OntologyClass	hp	SNOMEDCT_US:706882009|UMLS:C0020546		http://purl.obolibrary.org/obo/HP_0100735		
OBO:HP_0100736	Abnormal soft palate morphology	biolink:OntologyClass	hp	UMLS:C4021984	An abnormality of the soft palate.	http://purl.obolibrary.org/obo/HP_0100736		Abnormality of the muscular palate|Abnormality of the soft palate|Abnormality of the velum|Abnormality of the velum palatinum
OBO:HP_0100737	Abnormal hard palate morphology	biolink:OntologyClass	hp	UMLS:C4021983		http://purl.obolibrary.org/obo/HP_0100737		Abnormality of the secondary palate|Abnormality of the hard palate
OBO:HP_0100738	Abnormal eating behavior	biolink:OntologyClass	hp	UMLS:C4021982	Abnormal eating habit with excessive or insufficient consumption of food or any other abnormal pattern of food consumption.	http://purl.obolibrary.org/obo/HP_0100738		Abnormal eating behavior|Abnormal eating behaviour
OBO:HP_0100739	Bulimia	biolink:OntologyClass	hp	MSH:D002032|SNOMEDCT_US:78004001|UMLS:C0006370	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).	http://purl.obolibrary.org/obo/HP_0100739		Binge and purge
OBO:HP_0100742	Vascular neoplasm	biolink:OntologyClass	hp	MSH:D009383|MSH:D019043|NCIT:C3262|SNOMEDCT_US:115235003|SNOMEDCT_US:126736007|SNOMEDCT_US:699605009|UMLS:C0027668|UMLS:C0282607	A benign or malignant neoplasm (tumour) originating in the vascular system.	http://purl.obolibrary.org/obo/HP_0100742		Blood vessel tumor
OBO:HP_0100743	Neoplasm of the rectum	biolink:OntologyClass	hp	MSH:D012004|NCIT:C3262|SNOMEDCT_US:126847008|UMLS:C0034885		http://purl.obolibrary.org/obo/HP_0100743		Rectal tumor
OBO:HP_0100744	Abnormality of the humeroradial joint	biolink:OntologyClass	hp	UMLS:C4021981		http://purl.obolibrary.org/obo/HP_0100744		
OBO:HP_0100745	Abnormality of the humeroulnar joint	biolink:OntologyClass	hp	UMLS:C4021980	An anomaly of the joint between the trochlear notch of ulna and the trochlea of humerus, which is part of the elbow joint.	http://purl.obolibrary.org/obo/HP_0100745		
OBO:HP_0100746	Macrodactyly of finger	biolink:OntologyClass	hp	MSH:C537720|SNOMEDCT_US:297195000|UMLS:C0574044	A type of Macrodactyly affecting one or several fingers.	http://purl.obolibrary.org/obo/HP_0100746		Macrodactyly of hands
OBO:HP_0100747	Macrodactyly of toe	biolink:OntologyClass	hp	MSH:C537719|UMLS:C2931596	A type of Macrodactyly affecting one or several toes.	http://purl.obolibrary.org/obo/HP_0100747		Foot macrodactyly
OBO:HP_0100748	Muscular edema	biolink:OntologyClass	hp	UMLS:C4021979		http://purl.obolibrary.org/obo/HP_0100748		Muscular oedema
OBO:HP_0100749	Chest pain	biolink:OntologyClass	hp	MSH:D002637|SNOMEDCT_US:29857009|UMLS:C0008031	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest.	http://purl.obolibrary.org/obo/HP_0100749		Chest pain|Thoracic pain
OBO:HP_0100750	Atelectasis	biolink:OntologyClass	hp	MSH:D001261|SNOMEDCT_US:46621007|UMLS:C0004144	Collapse of part of a lung associated with absence of inflation (air) of that part.	http://purl.obolibrary.org/obo/HP_0100750		Partial or complete collapse of part or entire lung|Pulmonary atelectasis
OBO:HP_0100751	Esophageal neoplasm	biolink:OntologyClass	hp	MSH:D004938|NCIT:C3262|SNOMEDCT_US:126817006|UMLS:C0014859	A tumor (abnormal growth of tissue) of the esophagus.	http://purl.obolibrary.org/obo/HP_0100751		Esophageal tumor
OBO:HP_0100752	Abnormal liver lobulation	biolink:OntologyClass	hp	SNOMEDCT_US:253811003|UMLS:C0345286	Formation of abnormal lobules (small masses of tissue) in the liver.	http://purl.obolibrary.org/obo/HP_0100752		Anomalous liver lobulation|Hepatic anomalous lobulation
OBO:HP_0100753	Schizophrenia	biolink:OntologyClass	hp	MSH:D012559|SNOMEDCT_US:191526005|SNOMEDCT_US:58214004|UMLS:C0036341	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%.	http://purl.obolibrary.org/obo/HP_0100753		
OBO:HP_0100754	Mania	biolink:OntologyClass	hp	MSH:D001714|SNOMEDCT_US:231494001|UMLS:C0338831	A state of abnormally elevated or irritable mood, arousal, and or energy levels.	http://purl.obolibrary.org/obo/HP_0100754		Manic
OBO:HP_0100755	Abnormality of salivation	biolink:OntologyClass	hp	UMLS:C4021978		http://purl.obolibrary.org/obo/HP_0100755		Abnormal spit|Abnormality of salivation
OBO:HP_0100757	Pancreatoblastoma	biolink:OntologyClass	hp	MSH:C537162|SNOMEDCT_US:53618008|UMLS:C0334489	A rare pediatric carcinoma of the pancreas.	http://purl.obolibrary.org/obo/HP_0100757		
OBO:HP_0100758	Gangrene	biolink:OntologyClass	hp	MSH:D005734|SNOMEDCT_US:36024000|SNOMEDCT_US:372070002|UMLS:C0017086	A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis).	http://purl.obolibrary.org/obo/HP_0100758		Death of body tissue due to lack of blood flow or infection
OBO:HP_0100759	Clubbing of fingers	biolink:OntologyClass	hp	MEDDRA:10016680|MSH:D010005|SNOMEDCT_US:30760008|UMLS:C0009080	Terminal broadening of the fingers (distal phalanges of the fingers).	http://purl.obolibrary.org/obo/HP_0100759	hposlim_core	Clubbed fingers|Clubbing (hands)|Clubbing of fingers|Finger clubbing
OBO:HP_0100760	Clubbing of toes	biolink:OntologyClass	hp	MSH:D003025|SNOMEDCT_US:249808002|SNOMEDCT_US:397932003|SNOMEDCT_US:53148007|UMLS:C0009081|UMLS:C3887489	Terminal broadening of the toes (distal phalanges of the toes).	http://purl.obolibrary.org/obo/HP_0100760		Clubbed toes
OBO:HP_0100761	Visceral angiomatosis	biolink:OntologyClass	hp	UMLS:C4021977		http://purl.obolibrary.org/obo/HP_0100761		
OBO:HP_0100762	Hemobilia	biolink:OntologyClass	hp	MSH:D006431|SNOMEDCT_US:66556007|UMLS:C0018994	Bleeding into the biliary tree.	http://purl.obolibrary.org/obo/HP_0100762		Haemobilia
OBO:HP_0100763	Abnormality of the lymphatic system	biolink:OntologyClass	hp	MSH:D008206|SNOMEDCT_US:111590001|SNOMEDCT_US:234087005|SNOMEDCT_US:3305006|SNOMEDCT_US:362971004|UMLS:C0024228|UMLS:C4021976	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.	http://purl.obolibrary.org/obo/HP_0100763		Lymphatic disease
OBO:HP_0100764	Lymphangioma	biolink:OntologyClass	hp	MSH:D008202|NCIT:C8965|SNOMEDCT_US:253057002|SNOMEDCT_US:254836000|SNOMEDCT_US:400178008|SNOMEDCT_US:69044001|UMLS:C0024221	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.	http://purl.obolibrary.org/obo/HP_0100764		
OBO:HP_0100765	Abnormality of the tonsils	biolink:OntologyClass	hp	UMLS:C4021975	An abnormality of the tonsils.	http://purl.obolibrary.org/obo/HP_0100765		
OBO:HP_0100766	Abnormal lymphatic vessel morphology	biolink:OntologyClass	hp	UMLS:C4021974	A structural anomaly of the vessel that contains or conveys lymph fluid.	http://purl.obolibrary.org/obo/HP_0100766		Abnormality of the lymphatic vessels
OBO:HP_0100767	Abnormal placenta morphology	biolink:OntologyClass	hp	SNOMEDCT_US:169957005|SNOMEDCT_US:33552005|UMLS:C1306893	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.	http://purl.obolibrary.org/obo/HP_0100767		Placental issue|Abnormality of the placenta
OBO:HP_0100768	Choriocarcinoma	biolink:OntologyClass	hp	MSH:D002822|SNOMEDCT_US:188188009|SNOMEDCT_US:44769000|UMLS:C0008497	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.	http://purl.obolibrary.org/obo/HP_0100768		
OBO:HP_0100769	Synovitis	biolink:OntologyClass	hp	MSH:D013585|SNOMEDCT_US:416209007|UMLS:C0039103		http://purl.obolibrary.org/obo/HP_0100769		
OBO:HP_0100770	Hyperperistalsis	biolink:OntologyClass	hp	SNOMEDCT_US:271838002|SNOMEDCT_US:80306002|UMLS:C0232474|UMLS:C0857071	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.	http://purl.obolibrary.org/obo/HP_0100770		Stomach churning
OBO:HP_0100771	Hypoperistalsis	biolink:OntologyClass	hp	SNOMEDCT_US:77853002|UMLS:C0232475|UMLS:C4020700	Reduced or inadequate peristalsis, with resultant slow passage of contents through the digestive tract.	http://purl.obolibrary.org/obo/HP_0100771		Intestinal hypoperistalsis
OBO:HP_0100773	Cartilage destruction	biolink:OntologyClass	hp	UMLS:C4021973		http://purl.obolibrary.org/obo/HP_0100773		Cartilage destruction
OBO:HP_0100774	Hyperostosis	biolink:OntologyClass	hp	MSH:D015576|SNOMEDCT_US:13814009|SNOMEDCT_US:203514008|UMLS:C0020492	Excessive growth or abnormal thickening of bone tissue.	http://purl.obolibrary.org/obo/HP_0100774		Bone overgrowth|Bone Hypertrophy
OBO:HP_0100775	Dural ectasia	biolink:OntologyClass	hp	UMLS:C1851712	A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level.	http://purl.obolibrary.org/obo/HP_0100775		
OBO:HP_0100776	Recurrent pharyngitis	biolink:OntologyClass	hp	UMLS:C0747556	An increased susceptibility to pharyngitis as manifested by a history of recurrent pharyngitis.	http://purl.obolibrary.org/obo/HP_0100776		Recurrent sore throat|Pharyngitis, recurrent
OBO:HP_0100777	Exostoses	biolink:OntologyClass	hp	MSH:D005096|SNOMEDCT_US:416189003|SNOMEDCT_US:80400009|UMLS:C1442903	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.	http://purl.obolibrary.org/obo/HP_0100777		Formation of new noncancerous bone on top of existing bone
OBO:HP_0100778	Cryoglobulinemia	biolink:OntologyClass	hp	MSH:D003449|SNOMEDCT_US:30911005|UMLS:C0010403	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.	http://purl.obolibrary.org/obo/HP_0100778		Cryoprecipitable immune complexes
OBO:HP_0100779	Urogenital sinus anomaly	biolink:OntologyClass	hp	UMLS:C4021972	A rare birth defect in women where the urethra and vagina both open into a common channel.	http://purl.obolibrary.org/obo/HP_0100779		
OBO:HP_0100780	Conjunctival hamartoma	biolink:OntologyClass	hp	UMLS:C4021849	A hamartoma (disordered proliferation of mature tissues) of the conjunctiva.	http://purl.obolibrary.org/obo/HP_0100780		
OBO:HP_0100781	Abnormality of the sacroiliac joint	biolink:OntologyClass	hp	UMLS:C0262621	An anomaly of the sacroiliac joint, which connects the base of the spine (sacrum) to the ilium (a hip bone).	http://purl.obolibrary.org/obo/HP_0100781		
OBO:HP_0100783	Breast aplasia	biolink:OntologyClass	hp	SNOMEDCT_US:111324004|UMLS:C0266009	Failure to develop and congenital absence of the breast.	http://purl.obolibrary.org/obo/HP_0100783		Absent breast|Congenital absence of breast|Mammary gland aplasia
OBO:HP_0100784	Peripheral arteriovenous fistula	biolink:OntologyClass	hp	UMLS:C4021971		http://purl.obolibrary.org/obo/HP_0100784		
OBO:HP_0100785	Insomnia	biolink:OntologyClass	hp	MSH:D007319|SNOMEDCT_US:193462001|UMLS:C0917801		http://purl.obolibrary.org/obo/HP_0100785		Difficulty staying or falling asleep|Fragmented sleep
OBO:HP_0100786	Hypersomnia	biolink:OntologyClass	hp	MSH:D006970|SNOMEDCT_US:77692006|UMLS:C0917799		http://purl.obolibrary.org/obo/HP_0100786		Excessive sleepiness
OBO:HP_0100787	Prostate neoplasm	biolink:OntologyClass	hp	MSH:D011471|SNOMEDCT_US:126906006|UMLS:C0033578		http://purl.obolibrary.org/obo/HP_0100787		
OBO:HP_0100788	Fused lips	biolink:OntologyClass	hp	UMLS:C4021970	Lack of separation of the upper and lower lips.	http://purl.obolibrary.org/obo/HP_0100788	hposlim_core	Adhesion of upper and lower lips|Fused lips|Fusion of upper and lower lips
OBO:HP_0100789	Torus palatinus	biolink:OntologyClass	hp	SNOMEDCT_US:244683008|SNOMEDCT_US:46752004|SNOMEDCT_US:697945009|UMLS:C0266981|UMLS:C0447996|UMLS:C1840236	A bony protrusion present on the midline of the hard palate.	http://purl.obolibrary.org/obo/HP_0100789	hposlim_core	Maxillary torus|Palatal tori|Palatal torus|Palate exostoses|Prominent midpalatal ridge
OBO:HP_0100790	Hernia	biolink:OntologyClass	hp	MSH:D006547|SNOMEDCT_US:414403008|SNOMEDCT_US:52515009|UMLS:C0019270		http://purl.obolibrary.org/obo/HP_0100790		Hernias
OBO:HP_0100792	Acantholysis	biolink:OntologyClass	hp	MSH:D000051|SNOMEDCT_US:43327007|SNOMEDCT_US:441837004|UMLS:C0000887|UMLS:C0241128	The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes.	http://purl.obolibrary.org/obo/HP_0100792		Nikolsky's sign
OBO:HP_0100795	Abnormally straight spine	biolink:OntologyClass	hp	UMLS:C4021969	The absence of the normal curvature of the vertebral column.	http://purl.obolibrary.org/obo/HP_0100795	hposlim_core	Abnormally straight spine
OBO:HP_0100796	Orchitis	biolink:OntologyClass	hp	MSH:D009920|SNOMEDCT_US:274718005|UMLS:C0029191	Testicular inflammation.	http://purl.obolibrary.org/obo/HP_0100796		Inflammation of testicles
OBO:HP_0100797	Toenail dysplasia	biolink:OntologyClass	hp	UMLS:C3276623	An abnormality of the development of the toenails.	http://purl.obolibrary.org/obo/HP_0100797		Abnormal toenail development|Dysplastic toenails
OBO:HP_0100798	Fingernail dysplasia	biolink:OntologyClass	hp	UMLS:C4020952	An abnormality of the development of the fingernails.	http://purl.obolibrary.org/obo/HP_0100798		Abnormal fingernail development|Dysplastic fingernails
OBO:HP_0100799	Neoplasm of the middle ear	biolink:OntologyClass	hp	NCIT:C3262|SNOMEDCT_US:127006003|UMLS:C0345617	A tumor (abnormal growth of tissue) of the middle ear.	http://purl.obolibrary.org/obo/HP_0100799		Middle ear tumor|Neoplasia of the middle ear
OBO:HP_0100800	Aplasia/Hypoplasia of the pancreas	biolink:OntologyClass	hp	UMLS:C4021968	A congenital underdevelopment (aplasia or hypoplasia) of the pancreas.	http://purl.obolibrary.org/obo/HP_0100800		Absent/small pancreas|Absent/underdeveloped pancreas
OBO:HP_0100801	Pancreatic aplasia	biolink:OntologyClass	hp	UMLS:C4021967	Aplasia of the pancreas.	http://purl.obolibrary.org/obo/HP_0100801		Absent pancreas
OBO:HP_0100802	Malposition of the stomach	biolink:OntologyClass	hp	UMLS:C1402983	Abnormal anatomical location of the stomach. This feature may be due to intestinal malrotation.	http://purl.obolibrary.org/obo/HP_0100802		Abnormal stomach location|Gastric ectopia|Gastric malposition
OBO:HP_0100803	Abnormality of the periungual region	biolink:OntologyClass	hp	UMLS:C4021966	An abnormality of the region around the nails of the fingers or toes.	http://purl.obolibrary.org/obo/HP_0100803		
OBO:HP_0100804	Ungual fibroma	biolink:OntologyClass	hp	SNOMEDCT_US:264561009|UMLS:C0442880	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).	http://purl.obolibrary.org/obo/HP_0100804		Koenen tumor|Koenen's tumor|Parungual fibromas|Periungual fibroma
OBO:HP_0100805	obsolete Precocious menopause	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0100805		
OBO:HP_0100806	Sepsis	biolink:OntologyClass	hp	MSH:D018805|UMLS:C0036690	Systemic inflammatory response to infection.	http://purl.obolibrary.org/obo/HP_0100806		Infection in blood stream
OBO:HP_0100807	Long fingers	biolink:OntologyClass	hp	UMLS:C1858091	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.	http://purl.obolibrary.org/obo/HP_0100807		Long fingers
OBO:HP_0100808	Gastric diverticulum	biolink:OntologyClass	hp	MSH:D013273|SNOMEDCT_US:75198005|UMLS:C0038355	An outpouching of the gastric wall.	http://purl.obolibrary.org/obo/HP_0100808		Stomach diverticulum
OBO:HP_0100809	Scalp tenderness	biolink:OntologyClass	hp	MEDDRA:10039521|SNOMEDCT_US:75851004|UMLS:C0151206|UMLS:C0240940|UMLS:C4073183	Pain or discomfort of the scalp elicited by palpation.	http://purl.obolibrary.org/obo/HP_0100809		Scalp pain|Scalp tenderness|Scalp hypersensitivity|Allodynia of scalp
OBO:HP_0100810	Pointed helix	biolink:OntologyClass	hp	UMLS:C4020951		http://purl.obolibrary.org/obo/HP_0100810		Pointed ear|Spock's ear|Elfin ear|Spock ear|Vulcan ear
OBO:HP_0100811	Aplasia/Hypoplasia of the colon	biolink:OntologyClass	hp	UMLS:C4021964	Congenital absence or underdevelopment of the colon.	http://purl.obolibrary.org/obo/HP_0100811		Absent/small colon|Absent/underdeveloped colon
OBO:HP_0100812	Halitosis	biolink:OntologyClass	hp	MEDDRA:10006326|MSH:D006209|SNOMEDCT_US:79879001|UMLS:C0018520	Noticeably unpleasant odors exhaled in breathing.	http://purl.obolibrary.org/obo/HP_0100812	hposlim_core	Bad breath|Foetor ex ore
OBO:HP_0100813	Testicular torsion	biolink:OntologyClass	hp	MSH:D013086|SNOMEDCT_US:49198006|SNOMEDCT_US:81996005|UMLS:C0037856	Testicular torsion is when the spermatic cord to a testicle twists, cutting off the blood supply. The most common symptom is acute testicular pain.	http://purl.obolibrary.org/obo/HP_0100813		Spermatic cord torsion
OBO:HP_0100814	Blue nevus	biolink:OntologyClass	hp	MSH:D049328|SNOMEDCT_US:40467008|UMLS:C0265985|UMLS:C4020699		http://purl.obolibrary.org/obo/HP_0100814		Mongolian spot|Congenital dermal melanocytosis
OBO:HP_0100816	Lip hyperpigmentation	biolink:OntologyClass	hp	UMLS:C4021963		http://purl.obolibrary.org/obo/HP_0100816		Darkening of skin of the lips|Increased pigmentation on the lips|Hyperpigmentation of lip vermillion
OBO:HP_0100817	Renovascular hypertension	biolink:OntologyClass	hp	MSH:D006978|SNOMEDCT_US:123799005|UMLS:C0020545	The presence of hypertension related to stenosis of the renal artery.	http://purl.obolibrary.org/obo/HP_0100817		Hypertension due to renal artery hyperplasia
OBO:HP_0100818	Long thorax	biolink:OntologyClass	hp	SNOMEDCT_US:298710001|UMLS:C0575484	Increased inferior to superior extent of the thorax.	http://purl.obolibrary.org/obo/HP_0100818	hposlim_core	Long rib cage
OBO:HP_0100819	Intestinal fistula	biolink:OntologyClass	hp	MEDDRA:10022647|MSH:D007412|SNOMEDCT_US:38851006|UMLS:C0021833	An abnormal connection between the gut and another hollow organ, such as the bladder, urethra, vagina, or other regions of the gastrointestinal tract.	http://purl.obolibrary.org/obo/HP_0100819	hposlim_core	
OBO:HP_0100820	Glomerulopathy	biolink:OntologyClass	hp	SNOMEDCT_US:197679002|UMLS:C0268731	Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron.	http://purl.obolibrary.org/obo/HP_0100820		Diseased glomeruli
OBO:HP_0100821	Urethrocele	biolink:OntologyClass	hp	ICD-9:618.03|SNOMEDCT_US:12068006|UMLS:C0238502	The prolapse of the female urethra into the vagina.	http://purl.obolibrary.org/obo/HP_0100821		
OBO:HP_0100822	Rectocele	biolink:OntologyClass	hp	ICD-9:618.04|MSH:D020047|SNOMEDCT_US:447072005|SNOMEDCT_US:62730001|UMLS:C0149771	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.	http://purl.obolibrary.org/obo/HP_0100822		
OBO:HP_0100823	Genital hernia	biolink:OntologyClass	hp	UMLS:C4021962		http://purl.obolibrary.org/obo/HP_0100823		
OBO:HP_0100825	Cheilitis	biolink:OntologyClass	hp	MSH:D002613|SNOMEDCT_US:7847004|UMLS:C0007971|UMLS:C4280288	Inflammation of the lip.	http://purl.obolibrary.org/obo/HP_0100825	hposlim_core	Inflammation of the lips|Red and sore lips
OBO:HP_0100826	Neoplasm of the nail	biolink:OntologyClass	hp	NCIT:C3262|UMLS:C4021961	A tumor (abnormal growth of tissue) of the nail.	http://purl.obolibrary.org/obo/HP_0100826		Nail tumor
OBO:HP_0100827	Lymphocytosis	biolink:OntologyClass	hp	MSH:D008218|SNOMEDCT_US:67023009|UMLS:C0024282	Increase in the number or proportion of lymphocytes in the blood.	http://purl.obolibrary.org/obo/HP_0100827		High lymphocyte count
OBO:HP_0100828	Increased T cell count	biolink:OntologyClass	hp	UMLS:C4021960	An abnormal increase in the total number of T cells detected in the blood.	http://purl.obolibrary.org/obo/HP_0100828		Increase in T cell count|Increase in T cell number
OBO:HP_0100829	Galactorrhea	biolink:OntologyClass	hp	MSH:D005687|UMLS:C3665358	Spontaneous flow of milk from the breast, unassociated with childbirth or nursing.	http://purl.obolibrary.org/obo/HP_0100829		Spontaneous milk flow from breast|Galactorrhoea
OBO:HP_0100830	Round ear	biolink:OntologyClass	hp	UMLS:C4021959		http://purl.obolibrary.org/obo/HP_0100830		Round ear
OBO:HP_0100831	Abnormality of vitamin K metabolism	biolink:OntologyClass	hp	UMLS:C4021958	Vitamin K is a fat-soluble vitamin with a role in promoting the coagulation cascade.	http://purl.obolibrary.org/obo/HP_0100831		Abnormality of vitamin K metabolism
OBO:HP_0100832	Vitreous floaters	biolink:OntologyClass	hp	SNOMEDCT_US:15013002|SNOMEDCT_US:162278001|SNOMEDCT_US:420999000|UMLS:C0016242|UMLS:C1720491	Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humour, which is normally transparent.	http://purl.obolibrary.org/obo/HP_0100832		Eye floaters|Spots in front of eyes|Flitting flies|Mouches volantes|Myodeopsia|Myodesopsia|Vitreous condensations|Vitreous debris|Vitreous opacities|Vitreous veils
OBO:HP_0100833	Neoplasm of the small intestine	biolink:OntologyClass	hp	NCIT:C3262|SNOMEDCT_US:126832004|UMLS:C0345832	The presence of a neoplasm of the small intestine.	http://purl.obolibrary.org/obo/HP_0100833		Small intestine tumor
OBO:HP_0100834	Neoplasm of the large intestine	biolink:OntologyClass	hp	MSH:D015179|NCIT:C3262|SNOMEDCT_US:126837005|UMLS:C0009404	The presence of a neoplasm of the large intestine.	http://purl.obolibrary.org/obo/HP_0100834		Large intestine tumor
OBO:HP_0100835	Benign neoplasm of the central nervous system	biolink:OntologyClass	hp	SNOMEDCT_US:92048008|UMLS:C0347509		http://purl.obolibrary.org/obo/HP_0100835		Benign neoplasm of the CNS
OBO:HP_0100836	Malignant neoplasm of the central nervous system	biolink:OntologyClass	hp	SNOMEDCT_US:372062007|UMLS:C0348374	A tumor that originates in the pineal gland, has moderate cellularity and tends to form rosette patterns.	http://purl.obolibrary.org/obo/HP_0100836		Malignant neoplasm of the CNS
OBO:HP_0100837	Atrophodermia vermiculata	biolink:OntologyClass	hp	MSH:C537412|SNOMEDCT_US:400059005|SNOMEDCT_US:400126005|UMLS:C0263428	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.	http://purl.obolibrary.org/obo/HP_0100837		Vermiculata atrophoderma
OBO:HP_0100838	Recurrent cutaneous abscess formation	biolink:OntologyClass	hp	UMLS:C4021957	An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses.	http://purl.obolibrary.org/obo/HP_0100838		
OBO:HP_0100839	Hepatic agenesis	biolink:OntologyClass	hp	SNOMEDCT_US:3650004|UMLS:C0266258	Absence of the liver owing to a failure of the liver to develop.	http://purl.obolibrary.org/obo/HP_0100839		Failed liver development|Liver agenesis
OBO:HP_0100840	Aplasia/Hypoplasia of the eyebrow	biolink:OntologyClass	hp	UMLS:C1848765|UMLS:C2266639|UMLS:C3551430|UMLS:C4021956	Absence or underdevelopment of the eyebrow.	http://purl.obolibrary.org/obo/HP_0100840		Absence of eyebrow|Lack of eyebrow|Missing eyebrow|Sparse or absent eyebrows|Sparse to absent eyebrows|Sparse/absent eyebrows|Agenesis of eyebrow|Hypotrophic eyebrow
OBO:HP_0100841	Microgastria	biolink:OntologyClass	hp	SNOMEDCT_US:83714006|UMLS:C0266150	A developmental anomaly wtih a small tubular or saccular midline stomach.	http://purl.obolibrary.org/obo/HP_0100841		
OBO:HP_0100842	Septo-optic dysplasia	biolink:OntologyClass	hp	MSH:D025962|SNOMEDCT_US:7611002|UMLS:C0338503	Underdevelopment of the optic nerve and absence of the septum pellucidum.	http://purl.obolibrary.org/obo/HP_0100842		De Morsier syndrome
OBO:HP_0100843	obsolete Glioblastoma	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0100843		
OBO:HP_0100844	Pancreatic fistula	biolink:OntologyClass	hp	MSH:D010185|SNOMEDCT_US:25803005|UMLS:C0030290		http://purl.obolibrary.org/obo/HP_0100844		
OBO:HP_0100845	Anaphylactic shock	biolink:OntologyClass	hp	MSH:D000707|SNOMEDCT_US:39579001|UMLS:C0002792	An acute hypersensitivity reaction due to exposure to a previously encountered antigen.	http://purl.obolibrary.org/obo/HP_0100845		Anaphylaxis
OBO:HP_0100847	Palmoplantar pustulosis	biolink:OntologyClass	hp	MEDDRA:10050185|MSH:D011565|SNOMEDCT_US:27520001|UMLS:C0030246	A chronic, relapsing, pustular eruption that is localized to the palms and soles.	http://purl.obolibrary.org/obo/HP_0100847		Palmoplantar pustules|Pustulosis of palms and soles|Pustulosis palmaris et plantaris
OBO:HP_0100848	Neoplasm of the male external genitalia	biolink:OntologyClass	hp	NCIT:C3262|UMLS:C4020950	A tumor (abnormal growth of tissue) of the male external genitalia.	http://purl.obolibrary.org/obo/HP_0100848		Neoplasia of the male external genitalia
OBO:HP_0100849	Neoplasm of the scrotum	biolink:OntologyClass	hp	NCIT:C3262|SNOMEDCT_US:126905005|UMLS:C0341790	A tumor (abnormal growth of tissue) of the scrotum.	http://purl.obolibrary.org/obo/HP_0100849		Scrotum tumor|Neoplasia of the scrotum
OBO:HP_0100850	Neoplasm of the penis	biolink:OntologyClass	hp	MSH:D010412|NCIT:C3262|SNOMEDCT_US:126896003|UMLS:C0030849	A tumor (abnormal growth of tissue) of the penis.	http://purl.obolibrary.org/obo/HP_0100850		Penis tumor|Neoplasia of the penis
OBO:HP_0100851	Abnormal emotion/affect behavior	biolink:OntologyClass	hp	UMLS:C4020949	An abnormality of emotional behaviour.	http://purl.obolibrary.org/obo/HP_0100851		Abnormal emotion/affect behaviour
OBO:HP_0100852	Abnormal fear/anxiety-related behavior	biolink:OntologyClass	hp	UMLS:C4018849	An abnormality of fear/anxiety-related behavior, which may relate to either abnormally reduced fear/anxiety-related response or increased fear/anxiety-related response.	http://purl.obolibrary.org/obo/HP_0100852		Abnormal fear/anxiety-related behaviour
OBO:HP_0100853	Hypoplastic areola	biolink:OntologyClass	hp	UMLS:C3276032	Underdevelopment of the areola, the circular area of pigmented skin surrounding the nipple.	http://purl.obolibrary.org/obo/HP_0100853	hposlim_core	Hypoplastic areolae
OBO:HP_0100854	Aplasia of the musculature	biolink:OntologyClass	hp	UMLS:C4021955	Absence of the musculature.	http://purl.obolibrary.org/obo/HP_0100854		Absent musculature
OBO:HP_0100855	Triceps hypoplasia	biolink:OntologyClass	hp	UMLS:C4021954	Hypoplasia of the triceps muscle.	http://purl.obolibrary.org/obo/HP_0100855		Small triceps|Underdeveloped triceps
OBO:HP_0100856	Poorly ossified vertebrae	biolink:OntologyClass	hp	UMLS:C4021953	Decreased ossification of the vertebral bodies.	http://purl.obolibrary.org/obo/HP_0100856		
OBO:HP_0100857	Flat sella turcica	biolink:OntologyClass	hp	UMLS:C4021952	An abnormally flat sella turcica.	http://purl.obolibrary.org/obo/HP_0100857		
OBO:HP_0100858	Dilatation of celiac artery	biolink:OntologyClass	hp	SNOMEDCT_US:111290000|UMLS:C0264969	Abnormal outpouching or sac-like dilatation in the wall of the celiac artery.	http://purl.obolibrary.org/obo/HP_0100858		Dilatation of coeliac artery|Celiac artery aneurysm
OBO:HP_0100859	Dilatation of superior mesenteric artery	biolink:OntologyClass	hp	SNOMEDCT_US:65498003|UMLS:C0264974	Abnormal outpouching or sac-like dilatation in the wall of the superior mesenteric artery .	http://purl.obolibrary.org/obo/HP_0100859		Superior mesenteric artery aneurysm
OBO:HP_0100860	Dilatation of Inferior mesenteric artery	biolink:OntologyClass	hp	SNOMEDCT_US:195289005|UMLS:C0340625	Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery .	http://purl.obolibrary.org/obo/HP_0100860		Inferior mesenteric artery aneurysm
OBO:HP_0100861	Sclerotic vertebral body	biolink:OntologyClass	hp	UMLS:C4021951	Increase in bone density of the vertebral body.	http://purl.obolibrary.org/obo/HP_0100861		Vertebral body sclerosis
OBO:HP_0100862	Aplasia of the femoral head	biolink:OntologyClass	hp	UMLS:C4021950		http://purl.obolibrary.org/obo/HP_0100862		Absent femoral head
OBO:HP_0100863	Aplasia of the femoral neck	biolink:OntologyClass	hp	UMLS:C4021949		http://purl.obolibrary.org/obo/HP_0100863		Absent neck of thighbone
OBO:HP_0100864	Short femoral neck	biolink:OntologyClass	hp	UMLS:C1836184	An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).	http://purl.obolibrary.org/obo/HP_0100864	hposlim_core	Short neck of thighbone|Hypoplasia of the femoral neck|Hypoplastic femoral neck|Short femoral necks
OBO:HP_0100865	Broad ischia	biolink:OntologyClass	hp	UMLS:C1836868	Increased width of the ischium, which forms the lower and back part of the hip bone.	http://purl.obolibrary.org/obo/HP_0100865		
OBO:HP_0100866	Short iliac bones	biolink:OntologyClass	hp	UMLS:C1849063	Underdevelopment of the iliac bones.	http://purl.obolibrary.org/obo/HP_0100866		Short pelvis bones
OBO:HP_0100867	Duodenal stenosis	biolink:OntologyClass	hp	MEDDRA:10050094|MSH:C535720|SNOMEDCT_US:73120006|UMLS:C0238093|UMLS:C1860791	The narrowing or partial blockage of a portion of the duodenum.	http://purl.obolibrary.org/obo/HP_0100867	hposlim_core	Duodenal stenosis/atresia
OBO:HP_0100869	Palmar telangiectasia	biolink:OntologyClass	hp	UMLS:C4020948	The presence of telangiectases on the skin of palm of hand.	http://purl.obolibrary.org/obo/HP_0100869		Telangiectases of palms and soles|Teleangiectases of palms
OBO:HP_0100870	Plantar telangiectasia	biolink:OntologyClass	hp	UMLS:C4020947	Telangiectases (small dilated blood vessels) located on the skin of sole of foot.	http://purl.obolibrary.org/obo/HP_0100870		Plantar teleangiectasia|Telangiectases of soles|Teleangiectases of soles
OBO:HP_0100871	Abnormality of the palm	biolink:OntologyClass	hp	UMLS:C4021948	An abnormality of the palm, that is, of the front of the hand.	http://purl.obolibrary.org/obo/HP_0100871		Abnormality of the palm
OBO:HP_0100872	Abnormality of the plantar skin of foot	biolink:OntologyClass	hp	UMLS:C4020946	An abnormality of the plantar part of foot, that is of the soles of the feet.	http://purl.obolibrary.org/obo/HP_0100872		Minor feet anomalies
OBO:HP_0100874	Thick hair	biolink:OntologyClass	hp	UMLS:C4073184	Increased density of hairs, i.e., and elevated number of hairs per unit area.	http://purl.obolibrary.org/obo/HP_0100874	hposlim_core	Increased hair density|Thick hair|Increased follicular density
OBO:HP_0100875	Hemimacroglossia	biolink:OntologyClass	hp	UMLS:C4021947|UMLS:C4280287	Increased length and width of one half of the tounge.	http://purl.obolibrary.org/obo/HP_0100875		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
OBO:HP_0100876	Infra-orbital crease	biolink:OntologyClass	hp	UMLS:C1857280	Skin crease extending from below the inner canthus laterally along the malar process of the maxilla and zygoma.	http://purl.obolibrary.org/obo/HP_0100876	hposlim_core	Crease in skin under the eye|Groove in skin under the eye|Infraorbital crease|Infraorbital creases|Underorbital skin creases
OBO:HP_0100877	Renal diverticulum	biolink:OntologyClass	hp	SNOMEDCT_US:433036004|UMLS:C2315541	Cystic, urine-containing intrarenal cavities lined with transitional cell epithelium that communicate through a narrow channel with the collecting system.	http://purl.obolibrary.org/obo/HP_0100877		Caliceal diverticulum|Pelvic diverticulum|Renal pelvic diverticulum
OBO:HP_0100878	Enlarged uterus	biolink:OntologyClass	hp	SNOMEDCT_US:198319004|UMLS:C0151994		http://purl.obolibrary.org/obo/HP_0100878		Enlarged uterus
OBO:HP_0100879	Enlarged ovaries	biolink:OntologyClass	hp	SNOMEDCT_US:66998000|UMLS:C0392039		http://purl.obolibrary.org/obo/HP_0100879		Enlarged ovaries
OBO:HP_0100880	Nephrogenic rest	biolink:OntologyClass	hp	SNOMEDCT_US:405933007|UMLS:C1320468	Abnormally persistent clusters of embryonal cells, representing microscopic malformations (dysplasias) of the developing kidney.	http://purl.obolibrary.org/obo/HP_0100880		
OBO:HP_0100881	Congenital mesoblastic nephroma	biolink:OntologyClass	hp	MSH:D018201|UMLS:C1332965	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.	http://purl.obolibrary.org/obo/HP_0100881		
OBO:HP_0100882	Fibrous hamartoma	biolink:OntologyClass	hp	SNOMEDCT_US:22257004|SNOMEDCT_US:56364004|UMLS:C0265979	A rare, benign soft tissue tumor that typically occurs within the first two years of life.	http://purl.obolibrary.org/obo/HP_0100882		Fibrous hamartoma of infancy
OBO:HP_0100883	Chorangioma	biolink:OntologyClass	hp	MSH:D006391|SNOMEDCT_US:2099007|SNOMEDCT_US:237268002|SNOMEDCT_US:699948001|UMLS:C0677608	Hamartoma-like growth in the placenta consisting of blood vessels.	http://purl.obolibrary.org/obo/HP_0100883		Placental hamartoma
OBO:HP_0100884	Compensatory scoliosis	biolink:OntologyClass	hp	SNOMEDCT_US:203645000|UMLS:C0343292	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.	http://purl.obolibrary.org/obo/HP_0100884		
OBO:HP_0100885	Lateral venous anomaly	biolink:OntologyClass	hp	UMLS:C4020945	Persistence of the embryonic dorsal or sciatic vein system that normally should have involuted around the tenth to twelfth week of intrauterine life.	http://purl.obolibrary.org/obo/HP_0100885		Lateral marginal vein of Servelle|Vein of servelle
OBO:HP_0100886	Abnormality of globe location	biolink:OntologyClass	hp	UMLS:C4021946	An abnormality in the placement of the ocular globe (eyeball).	http://purl.obolibrary.org/obo/HP_0100886		Abnormality of eyeball location|Abnormality of eyeball position|Abnormality of globe position
OBO:HP_0100887	Abnormality of globe size	biolink:OntologyClass	hp	UMLS:C4021945	An abnormality in the size of the ocular globe (eyeball).	http://purl.obolibrary.org/obo/HP_0100887		Abnormality of eyeball size|Eye size difference
OBO:HP_0100888	Interdigital loops	biolink:OntologyClass	hp	UMLS:C4021944		http://purl.obolibrary.org/obo/HP_0100888		
OBO:HP_0100889	Abnormality of the ductus choledochus	biolink:OntologyClass	hp	UMLS:C4020944	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.	http://purl.obolibrary.org/obo/HP_0100889		Abnormality of the common bile duct
OBO:HP_0100890	Cyst of the ductus choledochus	biolink:OntologyClass	hp	MSH:D015529|SNOMEDCT_US:397868007|SNOMEDCT_US:398197009|SNOMEDCT_US:440471007|UMLS:C0008340		http://purl.obolibrary.org/obo/HP_0100890		Choledochal cyst
OBO:HP_0100891	Bifid xiphoid process	biolink:OntologyClass	hp	UMLS:C4020943	A cleft of the xiphoid process of the sternum.	http://purl.obolibrary.org/obo/HP_0100891		Bifid xiphisternum
OBO:HP_0100892	Abnormality of the xiphoid process	biolink:OntologyClass	hp	UMLS:C4021943	An abnormality of the xiphoid process of the sternum.	http://purl.obolibrary.org/obo/HP_0100892		
OBO:HP_0100893	Prominent xiphoid process	biolink:OntologyClass	hp	UMLS:C4020942	Increased prominence of the xiphoid process of the sternum.	http://purl.obolibrary.org/obo/HP_0100893		Prominent xiphisternum
OBO:HP_0100894	Broad xiphoid process	biolink:OntologyClass	hp	UMLS:C4020901	Increased side-to-side width of the xiphoid process of the sternum.	http://purl.obolibrary.org/obo/HP_0100894		Broad xiphisternum
OBO:HP_0100896	Rectal polyposis	biolink:OntologyClass	hp	SNOMEDCT_US:39772007|UMLS:C0034887	The presence of multiple rectal hyperplastic/adenomatous polyps.	http://purl.obolibrary.org/obo/HP_0100896		Multiple rectal polyps|Rectal polyps
OBO:HP_0100898	Connective tissue nevi	biolink:OntologyClass	hp	MSH:C562737|SNOMEDCT_US:22858003|SNOMEDCT_US:400091006|UMLS:C0334083	Connective tissue nevi are hamartomas in which one or several components of the dermis is altered.	http://purl.obolibrary.org/obo/HP_0100898		
OBO:HP_0100899	Sclerosis of finger phalanx	biolink:OntologyClass	hp	UMLS:C4020941	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.	http://purl.obolibrary.org/obo/HP_0100899		Increased bone density in the finger bone|Sclerosis of the phalanges of the hand
OBO:HP_0100900	Sclerosis of the distal phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4021942		http://purl.obolibrary.org/obo/HP_0100900		Increased bone density in the outermost bone of the index finger
OBO:HP_0100901	Sclerosis of the distal phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4021941		http://purl.obolibrary.org/obo/HP_0100901		Increased bone density in the outermost bone of the middle finger
OBO:HP_0100902	Sclerosis of the distal phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4021940		http://purl.obolibrary.org/obo/HP_0100902		Increased bone density in the outermost bone of the ring finger
OBO:HP_0100903	Sclerosis of the distal phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4021939		http://purl.obolibrary.org/obo/HP_0100903		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
OBO:HP_0100904	Sclerosis of the middle phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4021938		http://purl.obolibrary.org/obo/HP_0100904		Increased bone density in the middle bone of the index finger
OBO:HP_0100905	Sclerosis of the middle phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4021937		http://purl.obolibrary.org/obo/HP_0100905		Increased bone density in the middle bone of the middle finger
OBO:HP_0100906	Sclerosis of the middle phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4021936		http://purl.obolibrary.org/obo/HP_0100906		Increased bone density in the middle bone of the ring finger
OBO:HP_0100907	Sclerosis of the middle phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4021935		http://purl.obolibrary.org/obo/HP_0100907		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
OBO:HP_0100908	Sclerosis of the proximal phalanx of the 2nd finger	biolink:OntologyClass	hp	UMLS:C4021934		http://purl.obolibrary.org/obo/HP_0100908		Increased bone density in the innermost bone of the index finger
OBO:HP_0100909	Sclerosis of the proximal phalanx of the 3rd finger	biolink:OntologyClass	hp	UMLS:C4021933		http://purl.obolibrary.org/obo/HP_0100909		Increased bone density in innermost bone of the middle finger
OBO:HP_0100910	Sclerosis of the proximal phalanx of the 4th finger	biolink:OntologyClass	hp	UMLS:C4021932		http://purl.obolibrary.org/obo/HP_0100910		Increased bone density in the innermost bone of the ring finger
OBO:HP_0100911	Sclerosis of the proximal phalanx of the 5th finger	biolink:OntologyClass	hp	UMLS:C4021931		http://purl.obolibrary.org/obo/HP_0100911		Increased bone density in innermost little finger bone|Increased bone density in innermost pinkie finger bone|Increased bone density in innermost pinky finger bone
OBO:HP_0100912	Sclerosis of the distal phalanx of the thumb	biolink:OntologyClass	hp	UMLS:C4021930	An elevation of bone density in the distal phalanx of the thumb.	http://purl.obolibrary.org/obo/HP_0100912		Increased bone density in the outermost bone of the thumb
OBO:HP_0100913	Sclerosis of the proximal phalanx of the thumb	biolink:OntologyClass	hp	UMLS:C4021929	An elevation of bone density in the proximal phalanx of the thumb.	http://purl.obolibrary.org/obo/HP_0100913		Increased bone density in the innermost bone of the thumb
OBO:HP_0100914	Sclerosis of the 1st metacarpal	biolink:OntologyClass	hp	UMLS:C4021928		http://purl.obolibrary.org/obo/HP_0100914		Increased bone density in 1st long bone of hand
OBO:HP_0100915	Sclerosis of distal finger phalanx	biolink:OntologyClass	hp	UMLS:C4020940	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.	http://purl.obolibrary.org/obo/HP_0100915		Increased bone density in outermost finger bone|Sclerosis of the distal phalanges of the hand
OBO:HP_0100916	Sclerosis of middle finger phalanx	biolink:OntologyClass	hp	UMLS:C4020939	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.	http://purl.obolibrary.org/obo/HP_0100916		Increased bone density in middle finger bone of hand|Sclerosis of the middle phalanges of the hand
OBO:HP_0100917	Sclerosis of proximal finger phalanx	biolink:OntologyClass	hp	UMLS:C4020938	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.	http://purl.obolibrary.org/obo/HP_0100917		Increased bone density in innermost finger bone|Sclerosis of the proximal phalanges of the hand
OBO:HP_0100918	Sclerosis of 2nd finger phalanx	biolink:OntologyClass	hp	UMLS:C4020937	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.	http://purl.obolibrary.org/obo/HP_0100918		Increased bone density in 2nd finger bone|Sclerosis of the phalanges of the 2nd finger
OBO:HP_0100919	Sclerosis of 3rd finger phalanx	biolink:OntologyClass	hp	UMLS:C4020936	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.	http://purl.obolibrary.org/obo/HP_0100919		Increased bone density in middle finger bone|Sclerosis of the phalanges of the 3rd finger
OBO:HP_0100920	Sclerosis of 4th finger phalanx	biolink:OntologyClass	hp	UMLS:C4020935	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.	http://purl.obolibrary.org/obo/HP_0100920		Increased bone density in ring finger bone|Sclerosis of the phalanges of the 4th finger
OBO:HP_0100921	Sclerosis of 5th finger phalanx	biolink:OntologyClass	hp	UMLS:C4020934	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.	http://purl.obolibrary.org/obo/HP_0100921		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
OBO:HP_0100922	Sclerosis of thumb phalanx	biolink:OntologyClass	hp	UMLS:C4020933		http://purl.obolibrary.org/obo/HP_0100922		Increased bone density in thumb bone|Sclerosis of the phalanges of the thumb
OBO:HP_0100923	Clavicular sclerosis	biolink:OntologyClass	hp	UMLS:C3554669	An increase in bone density within the clavicle.	http://purl.obolibrary.org/obo/HP_0100923		Increased bone density in collarbone|Osteosclerosis of the clavicle|Osteosclerosis of the clavicles
OBO:HP_0100924	Sclerosis of toe phalanx	biolink:OntologyClass	hp	UMLS:C4020932	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.	http://purl.obolibrary.org/obo/HP_0100924		Increased bone density in the toe bone|Sclerosis of the phalanges of the toes
OBO:HP_0100925	Sclerosis of foot bone	biolink:OntologyClass	hp	UMLS:C4020931	An elevation in bone density in one or more foot bones. Sclerosis is normally detected on a radiograph as an area of increased opacity.	http://purl.obolibrary.org/obo/HP_0100925		Increased bone density in foot bone|Sclerosis of bones of the feet
OBO:HP_0100926	Sclerosis of 2nd toe phalanx	biolink:OntologyClass	hp	UMLS:C4020930	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.	http://purl.obolibrary.org/obo/HP_0100926		Increased bone density in 2nd toe bone|Sclerosis of the phalanges of the 2nd toe
OBO:HP_0100927	Sclerosis of 3rd toe phalanx	biolink:OntologyClass	hp	UMLS:C4020929	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.	http://purl.obolibrary.org/obo/HP_0100927		Increased bone density in 3rd toe bone|Sclerosis of the phalanges of the 3rd toe
OBO:HP_0100928	Sclerosis of 4th toe phalanx	biolink:OntologyClass	hp	UMLS:C4020928	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.	http://purl.obolibrary.org/obo/HP_0100928		Increased bone density in 4th toe bone|Sclerosis of the phalanges of the 4th toe
OBO:HP_0100929	Sclerosis of 5th toe phalanx	biolink:OntologyClass	hp	UMLS:C4020927	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.	http://purl.obolibrary.org/obo/HP_0100929		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
OBO:HP_0100930	Sclerosis of hallux phalanx	biolink:OntologyClass	hp	UMLS:C4020926	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.	http://purl.obolibrary.org/obo/HP_0100930		Increased bone density in big toe bone|Sclerosis of the phalanges of the hallux
OBO:HP_0100931	Sclerosis of the proximal phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4021927	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.	http://purl.obolibrary.org/obo/HP_0100931		Increased bone density in the innermost bone of the 2nd toe
OBO:HP_0100932	Sclerosis of the proximal phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4021926	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.	http://purl.obolibrary.org/obo/HP_0100932		Increased bone density in the innermost bone of the 3rd toe
OBO:HP_0100933	Sclerosis of the proximal phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4021925		http://purl.obolibrary.org/obo/HP_0100933		Increased bone density in the innermost bone of the 4th toe
OBO:HP_0100934	Sclerosis of the proximal phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4021924		http://purl.obolibrary.org/obo/HP_0100934		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
OBO:HP_0100935	Sclerosis of the middle phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4021923		http://purl.obolibrary.org/obo/HP_0100935		Increased bone density in the middle bone of the 2nd toe
OBO:HP_0100936	Sclerosis of the middle phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4021922	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.	http://purl.obolibrary.org/obo/HP_0100936		Increased bone density in the middle bone of the 3rd toe
OBO:HP_0100937	Sclerosis of the middle phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4021921		http://purl.obolibrary.org/obo/HP_0100937		Increased bone density in the middle bone of the 4th toe
OBO:HP_0100938	Sclerosis of the middle phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4021920		http://purl.obolibrary.org/obo/HP_0100938		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
OBO:HP_0100939	Sclerosis of the distal phalanx of the 2nd toe	biolink:OntologyClass	hp	UMLS:C4021919		http://purl.obolibrary.org/obo/HP_0100939		Increased bone density in the outermost bone of the 2nd toe
OBO:HP_0100940	Sclerosis of the distal phalanx of the 3rd toe	biolink:OntologyClass	hp	UMLS:C4021918	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.	http://purl.obolibrary.org/obo/HP_0100940		Increased bone density in the outermost bone of the 3rd toe
OBO:HP_0100941	Sclerosis of the distal phalanx of the 4th toe	biolink:OntologyClass	hp	UMLS:C4021917		http://purl.obolibrary.org/obo/HP_0100941		Increased bone density in the outermost bone of the 4th toe
OBO:HP_0100942	Sclerosis of the distal phalanx of the 5th toe	biolink:OntologyClass	hp	UMLS:C4021916		http://purl.obolibrary.org/obo/HP_0100942		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
OBO:HP_0100943	Sclerosis of the proximal phalanx of the hallux	biolink:OntologyClass	hp	UMLS:C4021915		http://purl.obolibrary.org/obo/HP_0100943		Increased bone density in the innermost bone of the big toe
OBO:HP_0100944	Sclerosis of the distal phalanx of the hallux	biolink:OntologyClass	hp	UMLS:C4021914		http://purl.obolibrary.org/obo/HP_0100944		Increased bone density in the outermost bone of the big toe
OBO:HP_0100945	Sclerosis of the 1st metatarsal	biolink:OntologyClass	hp	UMLS:C4021913		http://purl.obolibrary.org/obo/HP_0100945		Increased bone density in the 1st long bone of foot
OBO:HP_0100946	Sclerosis of proximal toe phalanx	biolink:OntologyClass	hp	UMLS:C4020925	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.	http://purl.obolibrary.org/obo/HP_0100946		Increased bone density in innermost toe bone|Sclerosis of the proximal phalanges of the toes
OBO:HP_0100947	Sclerosis of middle toe phalanx	biolink:OntologyClass	hp	UMLS:C4020924	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.	http://purl.obolibrary.org/obo/HP_0100947		Increased bone density in middle toe bone|Sclerosis of the middle phalanges of the toes
OBO:HP_0100948	Sclerosis of distal toe phalanx	biolink:OntologyClass	hp	UMLS:C4020923	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.	http://purl.obolibrary.org/obo/HP_0100948		Increased bone density in the outermost bone of the toes|Sclerosis of the distal phalanges of the toes
OBO:HP_0100950	Decreased 3-hydroxyacyl-CoA dehydrogenase level	biolink:OntologyClass	hp	MSH:C566945|SNOMEDCT_US:237999008|UMLS:C1969443		http://purl.obolibrary.org/obo/HP_0100950		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
OBO:HP_0100951	Enlarged fossa interpeduncularis	biolink:OntologyClass	hp	UMLS:C4020922		http://purl.obolibrary.org/obo/HP_0100951		Enlarged basal cistern|Enlarged interpeduncular cistern
OBO:HP_0100952	Enlarged sylvian cistern	biolink:OntologyClass	hp	UMLS:C4020921	An increase in size of the subarachnoid space associated with the lateral cerebral sulcus (Sylvian fissure).	http://purl.obolibrary.org/obo/HP_0100952		Enlarged lateral fissure|Enlarged lateral sulcus|Enlarged sylvian fissure
OBO:HP_0100953	Enlarged interhemispheric fissure	biolink:OntologyClass	hp	UMLS:C4020920		http://purl.obolibrary.org/obo/HP_0100953		Enlarged great longitudinal fissure|Enlarged longitudinal cerebral fissure|Enlarged longitudinal fissure
OBO:HP_0100954	Open operculum	biolink:OntologyClass	hp	UMLS:C2675973	Underdevelopment of the operculum.	http://purl.obolibrary.org/obo/HP_0100954		
OBO:HP_0100955	Giant cell granuloma of mandible	biolink:OntologyClass	hp	UMLS:C4021912		http://purl.obolibrary.org/obo/HP_0100955		
OBO:HP_0100957	Abnormal renal medulla morphology	biolink:OntologyClass	hp	UMLS:C4021911	Any structural abnormality of the medulla of the kidney.	http://purl.obolibrary.org/obo/HP_0100957		Abnormality of the renal medulla
OBO:HP_0100958	Narrow foramen obturatorium	biolink:OntologyClass	hp	UMLS:C4021910	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.	http://purl.obolibrary.org/obo/HP_0100958		
OBO:HP_0100959	Dense metaphyseal bands	biolink:OntologyClass	hp	UMLS:C4020919	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.	http://purl.obolibrary.org/obo/HP_0100959		Dense metaphyseal lines|Transverse metaphyseal bands
OBO:HP_0100960	Asymmetric ventricles	biolink:OntologyClass	hp	UMLS:C4021909		http://purl.obolibrary.org/obo/HP_0100960		
OBO:HP_0100961	Enlarged hippocampus	biolink:OntologyClass	hp	UMLS:C4021908	Increase in size of the hippocampus.	http://purl.obolibrary.org/obo/HP_0100961		
OBO:HP_0100962	Shyness	biolink:OntologyClass	hp	MSH:D012792|UMLS:C0037020		http://purl.obolibrary.org/obo/HP_0100962		Shyness
OBO:HP_0100963	Hyperesthesia	biolink:OntologyClass	hp	MSH:D006941|SNOMEDCT_US:14151009|UMLS:C0020453		http://purl.obolibrary.org/obo/HP_0100963		Hyperaesthesia
OBO:HP_0200000	Dysharmonic bone age	biolink:OntologyClass	hp	UMLS:C4020918	Different levels of maturation of different bones.	http://purl.obolibrary.org/obo/HP_0200000		Dysharmonic skeletal maturation
OBO:HP_0200001	Dysharmonic accelerated bone age	biolink:OntologyClass	hp	UMLS:C4021907	A type of dysharmonic skeletal maturation in which there is an acceleration in skeletal maturation whose degree differs markedly in different bones.	http://purl.obolibrary.org/obo/HP_0200001		
OBO:HP_0200003	Splayed epiphyses	biolink:OntologyClass	hp	UMLS:C4021906	Flaring (widening) of the epiphysis.	http://purl.obolibrary.org/obo/HP_0200003		Splayed end part of bone
OBO:HP_0200005	Abnormal shape of the palpebral fissure	biolink:OntologyClass	hp	UMLS:C4021905	The presence of an abnormal shape of the palpebral fissure.	http://purl.obolibrary.org/obo/HP_0200005	hposlim_core	Abnormal shape of the opening between the eyelids|Abnormal morphology of the palpebral fissure
OBO:HP_0200006	Slanting of the palpebral fissure	biolink:OntologyClass	hp	UMLS:C2748932		http://purl.obolibrary.org/obo/HP_0200006		Slanting of the opening between the eyelids
OBO:HP_0200007	Abnormal size of the palpebral fissures	biolink:OntologyClass	hp	UMLS:C4021904|UMLS:C4280286	An abnormal size of the palpebral fissures for example unusually long or short palpebral fissures.	http://purl.obolibrary.org/obo/HP_0200007		Abnormal size of the opening between the eyelids|Abnormal size of the eyes
OBO:HP_0200008	Intestinal polyposis	biolink:OntologyClass	hp	MSH:D044483|UMLS:C0744333|UMLS:C1257915	The presence of multiple polyps in the intestine.	http://purl.obolibrary.org/obo/HP_0200008		Growths in inner lining of intestine|Multiple intestinal polyps|Gastrointestinal polyps
OBO:HP_0200011	Abnormal length of corpus callosum	biolink:OntologyClass	hp	UMLS:C4021903		http://purl.obolibrary.org/obo/HP_0200011		
OBO:HP_0200012	Short corpus callosum	biolink:OntologyClass	hp	UMLS:C4021902		http://purl.obolibrary.org/obo/HP_0200012		
OBO:HP_0200013	Neoplasm of fatty tissue	biolink:OntologyClass	hp	NCIT:C3262|UMLS:C4021901	A tumor (abnormal growth of tissue) of adipose tissue.	http://purl.obolibrary.org/obo/HP_0200013		Tumor of fatty tissue
OBO:HP_0200015	Symmetric great toe depigmentation	biolink:OntologyClass	hp	UMLS:C4021900		http://purl.obolibrary.org/obo/HP_0200015		
OBO:HP_0200016	Acrokeratosis	biolink:OntologyClass	hp	SNOMEDCT_US:46629009|UMLS:C0001202	Overgrowth of the stratum corneum characterized by flesh-coloured or slightly pigmented smooth or warty papules on the upper surface of hands and feet.	http://purl.obolibrary.org/obo/HP_0200016		Acral keratosis
OBO:HP_0200017	Cerebral white matter agenesis	biolink:OntologyClass	hp	UMLS:C1859969	Congenital defect with failure of the development of the cerebral white matter.	http://purl.obolibrary.org/obo/HP_0200017		Agenesis of the cerebral white matter|White matter agenesis
OBO:HP_0200018	Protanomaly	biolink:OntologyClass	hp	MSH:D003117|SNOMEDCT_US:51445007|UMLS:C0155015|UMLS:C3887980	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.	http://purl.obolibrary.org/obo/HP_0200018		Red-weak|Colorblindness, partial, protan series
OBO:HP_0200020	Corneal erosion	biolink:OntologyClass	hp	SNOMEDCT_US:50792001|UMLS:C0392163	An erosion or abrasion of the cornea's outermost layer of epithelial cells.	http://purl.obolibrary.org/obo/HP_0200020	hposlim_core	Damage to outer layer of the cornea of the eye
OBO:HP_0200021	Down-sloping shoulders	biolink:OntologyClass	hp	UMLS:C1856872	Low set, steeply sloping shoulders.	http://purl.obolibrary.org/obo/HP_0200021	hposlim_core	Down-sloping shoulders|Rounded shoulders|Rounded, sloping shoulders|Sloping shoulders
OBO:HP_0200022	Choroid plexus papilloma	biolink:OntologyClass	hp	MSH:D020288|NCIT:C3698|SNOMEDCT_US:18021007|UMLS:C0205770	Choroid plexus papilloma is a histologically benign neoplasm located in the ventricular system of the choroid plexus.	http://purl.obolibrary.org/obo/HP_0200022		
OBO:HP_0200023	Priapism	biolink:OntologyClass	hp	MSH:D011317|SNOMEDCT_US:6273006|UMLS:C0033117	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.	http://purl.obolibrary.org/obo/HP_0200023		hulseyism
OBO:HP_0200024	Premature chromatid separation	biolink:OntologyClass	hp	UMLS:C4021899	The presence of premature sister chromatid segregation.	http://purl.obolibrary.org/obo/HP_0200024		
OBO:HP_0200025	Mandibular pain	biolink:OntologyClass	hp	SNOMEDCT_US:274667000|UMLS:C0236000	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the mandible.	http://purl.obolibrary.org/obo/HP_0200025		Lower jaw pain
OBO:HP_0200026	Ocular pain	biolink:OntologyClass	hp	MSH:D058447|SNOMEDCT_US:41652007|UMLS:C0151827	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye.	http://purl.obolibrary.org/obo/HP_0200026		Eye pain
OBO:HP_0200028	Pretibial myxedema	biolink:OntologyClass	hp	SNOMEDCT_US:237825005|SNOMEDCT_US:78146007|UMLS:C0033103|UMLS:C0342554	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.	http://purl.obolibrary.org/obo/HP_0200028		Graves dermopathy
OBO:HP_0200029	Vasculitis in the skin	biolink:OntologyClass	hp	SNOMEDCT_US:53312001|UMLS:C0262988		http://purl.obolibrary.org/obo/HP_0200029		Cutaneous vasculitis
OBO:HP_0200030	Punctate vasculitis skin lesions	biolink:OntologyClass	hp	UMLS:C3277693		http://purl.obolibrary.org/obo/HP_0200030		
OBO:HP_0200032	Kayser-Fleischer ring	biolink:OntologyClass	hp	SNOMEDCT_US:77103006|UMLS:C0152457	Grey-green or brownish-pigmented ring in the deep epithelial layers at the outer border of the cornea.	http://purl.obolibrary.org/obo/HP_0200032		Fleischer's ring|Fleischer-Kayser ring|Fleischer-Struempell ring
OBO:HP_0200034	Papule	biolink:OntologyClass	hp	MEDDRA:10033733|SNOMEDCT_US:25694009|SNOMEDCT_US:443871003|UMLS:C0332563	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.	http://purl.obolibrary.org/obo/HP_0200034	hposlim_core	Papules|Skin papules
OBO:HP_0200035	Skin plaque	biolink:OntologyClass	hp	SNOMEDCT_US:128177006|SNOMEDCT_US:276322001|UMLS:C0241148	A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter.	http://purl.obolibrary.org/obo/HP_0200035		
OBO:HP_0200036	Skin nodule	biolink:OntologyClass	hp	SNOMEDCT_US:95319004|UMLS:C0037287	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.	http://purl.obolibrary.org/obo/HP_0200036		Growth of abnormal tissue on or under the skin
OBO:HP_0200037	Skin vesicle	biolink:OntologyClass	hp	UMLS:C3814530	A circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point.	http://purl.obolibrary.org/obo/HP_0200037		
OBO:HP_0200039	Pustule	biolink:OntologyClass	hp	MEDDRA:10037578|SNOMEDCT_US:103605005|SNOMEDCT_US:271760008|SNOMEDCT_US:285305004|SNOMEDCT_US:47002008|UMLS:C0241157|UMLS:C0542346	A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells.	http://purl.obolibrary.org/obo/HP_0200039	hposlim_core	Pimple|Pustules|Skin pustules|Pustula|Pustular lesion|Skin pustule
OBO:HP_0200040	Epidermoid cyst	biolink:OntologyClass	hp	MSH:D004814|SNOMEDCT_US:399999000|SNOMEDCT_US:417992006|SNOMEDCT_US:418323001|SNOMEDCT_US:418630001|SNOMEDCT_US:419603000|SNOMEDCT_US:419670003|SNOMEDCT_US:419893006|UMLS:C0014511	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.	http://purl.obolibrary.org/obo/HP_0200040		Skin cyst|Epidermoid cysts|Epidermal cyst|Epidermal inclusion cyst|Infundibular cyst|Keratin cyst|Sebaceous cyst
OBO:HP_0200041	Skin erosion	biolink:OntologyClass	hp	MEDDRA:10040840|SNOMEDCT_US:93448009|UMLS:C3887524	A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed.	http://purl.obolibrary.org/obo/HP_0200041		
OBO:HP_0200042	Skin ulcer	biolink:OntologyClass	hp	MEDDRA:10040943|MSH:D012883|SNOMEDCT_US:46742003|UMLS:C0037299	A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.	http://purl.obolibrary.org/obo/HP_0200042	hposlim_core	Open skin sore
OBO:HP_0200043	Verrucae	biolink:OntologyClass	hp	MSH:D014860|SNOMEDCT_US:30285000|SNOMEDCT_US:57019003|UMLS:C3665596	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.	http://purl.obolibrary.org/obo/HP_0200043		Warts
OBO:HP_0200044	Porokeratosis	biolink:OntologyClass	hp	MSH:D017499|SNOMEDCT_US:80432009|UMLS:C0949506	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.	http://purl.obolibrary.org/obo/HP_0200044		
OBO:HP_0200046	Cat cry	biolink:OntologyClass	hp	SNOMEDCT_US:42712003|UMLS:C0234861	The presence of a characteristic high-pitched cry that sounds similar to the meowing of a kitten.	http://purl.obolibrary.org/obo/HP_0200046		Cat cry|cat-like cry|cri de chat-associated cry
OBO:HP_0200047	Chondritis of pinna	biolink:OntologyClass	hp	UMLS:C0741305	Inflammation of the cartilage of the external ear.	http://purl.obolibrary.org/obo/HP_0200047		Inflammation of cartilage of pinna
OBO:HP_0200048	Cyanotic episode	biolink:OntologyClass	hp	SNOMEDCT_US:301795004|UMLS:C0578475		http://purl.obolibrary.org/obo/HP_0200048		
OBO:HP_0200049	Upper limb hypertonia	biolink:OntologyClass	hp	UMLS:C4021898		http://purl.obolibrary.org/obo/HP_0200049		
OBO:HP_0200050	Bracket metacarpal epiphyses	biolink:OntologyClass	hp	UMLS:C4021897		http://purl.obolibrary.org/obo/HP_0200050		Bracket shaped end part of long bone of hand
OBO:HP_0200053	Hemihypotrophy of lower limb	biolink:OntologyClass	hp	UMLS:C1844734	Shortening of a leg affecting only one side.	http://purl.obolibrary.org/obo/HP_0200053		Asymmetric leg shortening|Asymmetric lower limb shortness
OBO:HP_0200054	Foot monodactyly	biolink:OntologyClass	hp	UMLS:C4021896		http://purl.obolibrary.org/obo/HP_0200054		
OBO:HP_0200055	Small hand	biolink:OntologyClass	hp	SNOMEDCT_US:299032009|UMLS:C0575802	Disproportionately small hand.	http://purl.obolibrary.org/obo/HP_0200055		Disproportionately small hands|Small hand|Small hands
OBO:HP_0200056	Macular scar	biolink:OntologyClass	hp	SNOMEDCT_US:18410006|UMLS:C0423428	Scar tissue in the macula.	http://purl.obolibrary.org/obo/HP_0200056		Macular scarring
OBO:HP_0200057	Marcus Gunn pupil	biolink:OntologyClass	hp	SNOMEDCT_US:232122003|SNOMEDCT_US:247015002|UMLS:C0549122	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.	http://purl.obolibrary.org/obo/HP_0200057		Relative afferent pupil defect|Relative afferent pupillary defect
OBO:HP_0200058	Angiosarcoma	biolink:OntologyClass	hp	MSH:D006394|SNOMEDCT_US:33176006|SNOMEDCT_US:39000009|SNOMEDCT_US:403977003|UMLS:C0018923		http://purl.obolibrary.org/obo/HP_0200058		
OBO:HP_0200059	Metastatic angiosarcoma	biolink:OntologyClass	hp	UMLS:C0854892		http://purl.obolibrary.org/obo/HP_0200059		
OBO:HP_0200063	Colorectal polyposis	biolink:OntologyClass	hp	SNOMEDCT_US:399505005|UMLS:C0949059	Multiple abnormal growths that arise from the lining of the large intestine (colon or rectum) and protrude into the intestinal lumen.	http://purl.obolibrary.org/obo/HP_0200063		Colorectal polyps
OBO:HP_0200064	Asymmetry of iris pigmentation	biolink:OntologyClass	hp	MSH:C538115|SNOMEDCT_US:247033008|UMLS:C0423318	Asymmetry between the two irides or asymmetry between different parts of one iris.	http://purl.obolibrary.org/obo/HP_0200064		
OBO:HP_0200065	Chorioretinal degeneration	biolink:OntologyClass	hp	SNOMEDCT_US:247177004|UMLS:C0521683		http://purl.obolibrary.org/obo/HP_0200065		
OBO:HP_0200066	Ribbonlike corneal degeneration	biolink:OntologyClass	hp	UMLS:C4021894		http://purl.obolibrary.org/obo/HP_0200066		
OBO:HP_0200067	Recurrent spontaneous abortion	biolink:OntologyClass	hp	UMLS:C3279439	Repeated episodes of abortion (Expulsion of the product of fertilization before completing the term of gestation) without deliberate interference.	http://purl.obolibrary.org/obo/HP_0200067		Spontaneous abortion, recurrent
OBO:HP_0200068	Nonprogressive visual loss	biolink:OntologyClass	hp	UMLS:C3553696|UMLS:C4021893		http://purl.obolibrary.org/obo/HP_0200068		Decreased visual acuity, nonprogressive
OBO:HP_0200070	Peripheral retinal atrophy	biolink:OntologyClass	hp	UMLS:C3553016		http://purl.obolibrary.org/obo/HP_0200070		Wasting of the outer part of the retina
OBO:HP_0200071	Peripheral vitreoretinal degeneration	biolink:OntologyClass	hp	UMLS:C3280349	A type of vitreoretinal degeneration with manifestations that are concentrated at the periphery of the retina.	http://purl.obolibrary.org/obo/HP_0200071		
OBO:HP_0200072	Episodic quadriplegia	biolink:OntologyClass	hp	UMLS:C1863062	Intermittent episodes of paralysis of all four limbs.	http://purl.obolibrary.org/obo/HP_0200072		Quadriplegia, episodic
OBO:HP_0200073	Respiratory insufficiency due to defective ciliary clearance	biolink:OntologyClass	hp	UMLS:C3552099		http://purl.obolibrary.org/obo/HP_0200073		
OBO:HP_0200083	Severe limb shortening	biolink:OntologyClass	hp	UMLS:C1835446		http://purl.obolibrary.org/obo/HP_0200083		Severe limb shortening
OBO:HP_0200084	Giant cell hepatitis	biolink:OntologyClass	hp	SNOMEDCT_US:69800000|UMLS:C0027613|UMLS:C2673820|UMLS:C2675624|UMLS:C4020697	Chronic hepatitis characterized by parenchymal inflammation with formation of large multinucleated hepatocytes in response to a variety of insults to the liver.	http://purl.obolibrary.org/obo/HP_0200084		Giant cell hepatitis on biopsy|Giant cell hepatitis on liver biopsy|Giant cell hepatitis shown on biopsy
OBO:HP_0200085	Limb tremor	biolink:OntologyClass	hp	MSH:D014202|UMLS:C0235081		http://purl.obolibrary.org/obo/HP_0200085		Involuntary shaking of limb|Limb tremor|Tremor of limbs
OBO:HP_0200094	Frontal open bite	biolink:OntologyClass	hp	UMLS:C1857012		http://purl.obolibrary.org/obo/HP_0200094		
OBO:HP_0200095	obsolete Anterior open bite	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0200095		
OBO:HP_0200096	Triangular-shaped open mouth	biolink:OntologyClass	hp	UMLS:C1859292	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.	http://purl.obolibrary.org/obo/HP_0200096		Triangular-shaped open mouth
OBO:HP_0200097	Oral mucosal blisters	biolink:OntologyClass	hp	UMLS:C0853945	Blisters arising in the mouth.	http://purl.obolibrary.org/obo/HP_0200097		Blisters of mouth|Oral mucosal blisters|Blebs of oral mucosa|Bullae of oral mucosa|Oral blistering|Oral mucosa blisters
OBO:HP_0200098	Absent skin pigmentation	biolink:OntologyClass	hp	UMLS:C2673954	Lack of skin pigmentation (coloring).	http://purl.obolibrary.org/obo/HP_0200098		Absent skin pigmentation|Lack of skin coloration
OBO:HP_0200099	obsolete Peripheral retinal pigmentation abnormalities	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0200099		
OBO:HP_0200101	Decreased/absent ankle reflexes	biolink:OntologyClass	hp	UMLS:C1850816		http://purl.obolibrary.org/obo/HP_0200101		Decreased/absent ankle reflexes|Decreased or absent ankle reflexes
OBO:HP_0200102	Sparse or absent eyelashes	biolink:OntologyClass	hp	UMLS:C1835157|UMLS:C1862855|UMLS:C3551431		http://purl.obolibrary.org/obo/HP_0200102		Sparse or absent eyelashes|Partial to total absence of eyelashes|Sparse to absent eyelashes
OBO:HP_0200104	Absent fifth fingernail	biolink:OntologyClass	hp	UMLS:C4020917	Absence of nail of little finger.	http://purl.obolibrary.org/obo/HP_0200104		Absent fifth fingernail|Absent nail of fifth finger
OBO:HP_0200105	Absent fifth toenail	biolink:OntologyClass	hp	UMLS:C4021892		http://purl.obolibrary.org/obo/HP_0200105		Absent fifth toenail|Missing fifth toenail
OBO:HP_0200106	Absent/shortened dynein arms	biolink:OntologyClass	hp	UMLS:C4021891		http://purl.obolibrary.org/obo/HP_0200106		
OBO:HP_0200107	Shortened inner dynein arms	biolink:OntologyClass	hp	UMLS:C4021890		http://purl.obolibrary.org/obo/HP_0200107		
OBO:HP_0200108	Shortened outer dynein arms	biolink:OntologyClass	hp	UMLS:C4021889		http://purl.obolibrary.org/obo/HP_0200108		
OBO:HP_0200109	Absent/shortened outer dynein arms	biolink:OntologyClass	hp	UMLS:C2750161		http://purl.obolibrary.org/obo/HP_0200109		Respiratory cilia have shortened or absent outer dynein arms
OBO:HP_0200111	Absent stapes head	biolink:OntologyClass	hp	UMLS:C4021888		http://purl.obolibrary.org/obo/HP_0200111		
OBO:HP_0200113	Aphalangy of hands and feet	biolink:OntologyClass	hp	UMLS:C4021887		http://purl.obolibrary.org/obo/HP_0200113		Aphalangy, hands and feet
OBO:HP_0200114	Metabolic alkalosis	biolink:OntologyClass	hp	SNOMEDCT_US:1388004|UMLS:C0220983	Metabolic alkalosis is defined as a disease state where the pH is elevated to greater than 7.45 secondary to some metabolic process.	http://purl.obolibrary.org/obo/HP_0200114		
OBO:HP_0200116	Distal ileal atresia	biolink:OntologyClass	hp	UMLS:C3279409		http://purl.obolibrary.org/obo/HP_0200116		
OBO:HP_0200117	Recurrent upper and lower respiratory tract infections	biolink:OntologyClass	hp	UMLS:C1842777	Increased susceptibility to upper and lower respiratory tract infections, as manifested by recurrent episodes of upper and lower respiratory tract infections.	http://purl.obolibrary.org/obo/HP_0200117		
OBO:HP_0200118	Malabsorption of Vitamin B12	biolink:OntologyClass	hp	UMLS:C0750292|UMLS:C1850013		http://purl.obolibrary.org/obo/HP_0200118		Malabsorption of cyanocobalamin|Vitamin B12 deficiency caused by intestinal malabsorption
OBO:HP_0200119	Acute hepatitis	biolink:OntologyClass	hp	SNOMEDCT_US:37871000|UMLS:C0267797	Acute hepatic injury resulting from inflammation typically accompanied by increased serum alanine transaminase activity. Etiologies include viral hepatitis, drugs, toxins, and autoimmune disorders.	http://purl.obolibrary.org/obo/HP_0200119		Acute liver inflammation
OBO:HP_0200120	Chronic active hepatitis	biolink:OntologyClass	hp	MSH:D006521|SNOMEDCT_US:197284004|UMLS:C0520463	Chronic hepatitis associated with recurrent clinical exacerbations, extrahepatic manifestations, and progression to cirrhosis.	http://purl.obolibrary.org/obo/HP_0200120		Hepatitis, chronic active
OBO:HP_0200122	Atypical or prolonged hepatitis	biolink:OntologyClass	hp	UMLS:C1848456		http://purl.obolibrary.org/obo/HP_0200122		Atypical or prolonged liver inflammation
OBO:HP_0200123	Chronic hepatitis	biolink:OntologyClass	hp	MSH:D006521|SNOMEDCT_US:76783007|UMLS:C0019189	Hepatitis that lasts for more than six months.	http://purl.obolibrary.org/obo/HP_0200123		Chronic liver inflammation
OBO:HP_0200124	Chronic hepatitis due to cryptosporidium infection	biolink:OntologyClass	hp	UMLS:C3808820	Chronic hepatitis associated with infection by cryptosporidia, as demonstrated (for example) by immunohistochemistry of liver tissue.	http://purl.obolibrary.org/obo/HP_0200124		Hepatitis, chronic, due to cryptosporidium infection
OBO:HP_0200125	Mitochondrial respiratory chain defects	biolink:OntologyClass	hp	UMLS:C2751582		http://purl.obolibrary.org/obo/HP_0200125		
OBO:HP_0200126	obsolete Amyloid cardiomyopathy	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0200126		
OBO:HP_0200127	Atrial cardiomyopathy	biolink:OntologyClass	hp	UMLS:C4021885	Any complex of structural, architectural, contractile or electrophysiological changes affecting the atria with the potential to produce clinically relevant manifestations.	http://purl.obolibrary.org/obo/HP_0200127		
OBO:HP_0200128	Biventricular hypertrophy	biolink:OntologyClass	hp	UMLS:C0281788	Thickening of the heart walls in both ventricles.	http://purl.obolibrary.org/obo/HP_0200128		
OBO:HP_0200129	obsolete Calcific mitral stenosis	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0200129		
OBO:HP_0200133	Lumbosacral meningocele	biolink:OntologyClass	hp	UMLS:C2675557		http://purl.obolibrary.org/obo/HP_0200133		
OBO:HP_0200134	Epileptic encephalopathy	biolink:OntologyClass	hp	UMLS:C0543888	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.	http://purl.obolibrary.org/obo/HP_0200134		Convulsive encephalopathy
OBO:HP_0200135	obsolete Macrocephaly due to hydrocephalus	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0200135		
OBO:HP_0200136	Oral-pharyngeal dysphagia	biolink:OntologyClass	hp	MSH:D003680|SNOMEDCT_US:71457002|UMLS:C0267071		http://purl.obolibrary.org/obo/HP_0200136		Oral pharyngeal dysphagia|Oropharyngeal dysphagia
OBO:HP_0200138	Bilateral choanal atresia/stenosis	biolink:OntologyClass	hp	UMLS:C4021884		http://purl.obolibrary.org/obo/HP_0200138		
OBO:HP_0200141	Small, conical teeth	biolink:OntologyClass	hp	UMLS:C1851883|UMLS:C4280284|UMLS:C4280285		http://purl.obolibrary.org/obo/HP_0200141		Small, cone shaped teeth|Small, peg shaped teeth|Small, pointed teeth|Conical microdontia
OBO:HP_0200143	Megaloblastic erythroid hyperplasia	biolink:OntologyClass	hp	UMLS:C1334688|UMLS:C1850020		http://purl.obolibrary.org/obo/HP_0200143		Bone marrow biopsy shows megaloblastic erythroid hyperplasia
OBO:HP_0200144	obsolete Anaphylactoid purpura	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0200144		
OBO:HP_0200146	Mucoid extracellular matrix accumulation	biolink:OntologyClass	hp	MSH:C536230|SNOMEDCT_US:234021009|SNOMEDCT_US:42182000|SNOMEDCT_US:45894003|UMLS:C0392775	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.).	http://purl.obolibrary.org/obo/HP_0200146		MEMA|Cystic medial necrosis of the aorta
OBO:HP_0200147	Neuronal loss in basal ganglia	biolink:OntologyClass	hp	UMLS:C2750913	A reduction in the number of nerve cells in the basal ganglia.	http://purl.obolibrary.org/obo/HP_0200147		
OBO:HP_0200148	Abnormal liver function tests during pregnancy	biolink:OntologyClass	hp	UMLS:C2750654|UMLS:C4021883		http://purl.obolibrary.org/obo/HP_0200148		Abnormal liver function tests during pregnancy|Abnormal liver function tests during pregnancy, resolves postpartum
OBO:HP_0200149	CSF lymphocytic pleiocytosis	biolink:OntologyClass	hp	SNOMEDCT_US:167719009|UMLS:C0427877	An increased lymphocyte count in the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0200149		CSF lymphocytosis
OBO:HP_0200150	Increased serum bile acid concentration during pregnancy	biolink:OntologyClass	hp	UMLS:C4020695|UMLS:C4021882		http://purl.obolibrary.org/obo/HP_0200150		Increased serum bile acid concentration during pregnancy, resolves
OBO:HP_0200151	Cutaneous mastocytosis	biolink:OntologyClass	hp	MSH:D034701|SNOMEDCT_US:397012002|SNOMEDCT_US:703827008|UMLS:C1136033	Multifocal dense infiltrates of mast cells in cutaneous tissue.	http://purl.obolibrary.org/obo/HP_0200151		
OBO:HP_0200153	Agenesis of lateral incisor	biolink:OntologyClass	hp	UMLS:C4021881|UMLS:C4227831		http://purl.obolibrary.org/obo/HP_0200153		Missing lateral incisor|Failure of development of lateral incisor|Absence of lateral incisor
OBO:HP_0200154	Agenesis of mandibular lateral incisor	biolink:OntologyClass	hp	UMLS:C4021880|UMLS:C4280283		http://purl.obolibrary.org/obo/HP_0200154		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
OBO:HP_0200158	Agenesis of permanent mandibular lateral incisor	biolink:OntologyClass	hp	UMLS:C4021879|UMLS:C4280282		http://purl.obolibrary.org/obo/HP_0200158		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
OBO:HP_0200159	Agenesis of primary mandibular lateral incisor	biolink:OntologyClass	hp	UMLS:C4021878|UMLS:C4280280|UMLS:C4280281		http://purl.obolibrary.org/obo/HP_0200159		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
OBO:HP_0200160	Agenesis of maxillary incisor	biolink:OntologyClass	hp	UMLS:C4021877|UMLS:C4280278|UMLS:C4280279		http://purl.obolibrary.org/obo/HP_0200160		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
OBO:HP_0200161	Agenesis of mandibular incisor	biolink:OntologyClass	hp	UMLS:C3150012|UMLS:C4021876|UMLS:C4280277		http://purl.obolibrary.org/obo/HP_0200161		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
OBO:HP_0400000	Tall chin	biolink:OntologyClass	hp	SNOMEDCT_US:471397004|UMLS:C3532221|UMLS:C4021875	Increased vertical distance from the vermillion border of the lower lip to the inferior-most point of the chin.	http://purl.obolibrary.org/obo/HP_0400000		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
OBO:HP_0400001	Chin with vertical crease	biolink:OntologyClass	hp	UMLS:C4020916	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.	http://purl.obolibrary.org/obo/HP_0400001		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
OBO:HP_0400002	Extra concha fold	biolink:OntologyClass	hp	UMLS:C4020915	Folds or ridges within the concha that are distinct from the crus helix.	http://purl.obolibrary.org/obo/HP_0400002		Concha, Extra Fold
OBO:HP_0400003	Focal absence of the external ear	biolink:OntologyClass	hp	UMLS:C4021874	Absence of a localized portion of the ear that cannot be described by a more precise term (e.g., absent ear lobe).	http://purl.obolibrary.org/obo/HP_0400003		
OBO:HP_0400004	Long ear	biolink:OntologyClass	hp	UMLS:C1848657	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.	http://purl.obolibrary.org/obo/HP_0400004		Long ear|Long ears
OBO:HP_0400005	Short ear	biolink:OntologyClass	hp	UMLS:C3551041	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.	http://purl.obolibrary.org/obo/HP_0400005		Short ear|Short ears
OBO:HP_0400007	Polymenorrhea	biolink:OntologyClass	hp	MSH:D008599|SNOMEDCT_US:52754008|UMLS:C0032519	Frequent menses; menstrual cycles lasting less than 21 days.	http://purl.obolibrary.org/obo/HP_0400007		
OBO:HP_0400008	Menometrorrhagia	biolink:OntologyClass	hp	SNOMEDCT_US:314631008|SNOMEDCT_US:351814001|UMLS:C0232943	Prolonged/excessive menses and bleeding at irregular intervals.	http://purl.obolibrary.org/obo/HP_0400008		
OBO:HP_0410000	Abnormality of vomer	biolink:OntologyClass	hp	UMLS:C4020914	An abnormality of the vomer.	http://purl.obolibrary.org/obo/HP_0410000		Abnormality of vomer bone|Defect of vomer
OBO:HP_0410003	Cleft maxillary alveolus	biolink:OntologyClass	hp	SNOMEDCT_US:109546001|UMLS:C0432084|UMLS:C4280276	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.	http://purl.obolibrary.org/obo/HP_0410003		Cleft primary palate|Alveolar cleft|Cleft anterior maxilla|Cleft alveolar process of maxilla
OBO:HP_0410004	obsolete Cleft secondary palate	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0410004		
OBO:HP_0410005	Cleft hard palate	biolink:OntologyClass	hp	SNOMEDCT_US:448915004|UMLS:C0432090		http://purl.obolibrary.org/obo/HP_0410005		Cleft bony palate|Cleft of hard palate
OBO:HP_0410006	Abnormality of ophthalmic artery	biolink:OntologyClass	hp	UMLS:C4073185	Abnormality of the first branch of the internal carotid artery.	http://purl.obolibrary.org/obo/HP_0410006		Ophthalmic artery anomaly
OBO:HP_0410007	obsolete Abnormality of cartilage morphology	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0410007		
OBO:HP_0410008	Abnormality of the peripheral nervous system	biolink:OntologyClass	hp	UMLS:C4073187	Any abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord.	http://purl.obolibrary.org/obo/HP_0410008		Abnormality of the peripheral nervous system
OBO:HP_0410009	Abnormality of the somatic nervous system	biolink:OntologyClass	hp	UMLS:C4073188	Any abnormality of the part of the peripheral nervous system associated with sensation and skeletal muscle voluntary control of body movements.	http://purl.obolibrary.org/obo/HP_0410009		
OBO:HP_0410010	Abnormality of somatic nerve plexus	biolink:OntologyClass	hp	UMLS:C4073189	Any abnormality of the somatic nerve plexus.	http://purl.obolibrary.org/obo/HP_0410010		
OBO:HP_0410011	Abnormality of masticatory muscle	biolink:OntologyClass	hp	UMLS:C4073190	Any abnormality of the masticatory muscle.	http://purl.obolibrary.org/obo/HP_0410011		Abnormality of muscles of mastication
OBO:HP_0410012	Abnormal mouth floor morphology	biolink:OntologyClass	hp	UMLS:C4073191	Any abnormality of the mouth floor.	http://purl.obolibrary.org/obo/HP_0410012		Abnormality of the floor of mouth|Abnormality of the mouth floor
OBO:HP_0410013	Abnormality of the submandibular region	biolink:OntologyClass	hp	UMLS:C4073192	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.	http://purl.obolibrary.org/obo/HP_0410013		
OBO:HP_0410014	Abnormality of ganglion	biolink:OntologyClass	hp	UMLS:C4073193	An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system.	http://purl.obolibrary.org/obo/HP_0410014		
OBO:HP_0410015	Abnormality of ganglion of peripheral nervous system	biolink:OntologyClass	hp	UMLS:C4073194	An abnormality of nerve cell cluster or a group of nerve cell bodies located in the peripheral autonomic nervous system.	http://purl.obolibrary.org/obo/HP_0410015		
OBO:HP_0410016	Abnormality of cranial ganglion	biolink:OntologyClass	hp	UMLS:C4073195	An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system of the cranium.	http://purl.obolibrary.org/obo/HP_0410016		
OBO:HP_0410017	Otitis externa	biolink:OntologyClass	hp		Inflammation or infection of the external auditory canal (EAC), the auricle, or both.	http://purl.obolibrary.org/obo/HP_0410017		Swimmer's ear
OBO:HP_0410018	Recurrent ear infections	biolink:OntologyClass	hp		Increased susceptibility to ear infections, as manifested by recurrent episodes of ear infections.	http://purl.obolibrary.org/obo/HP_0410018		Frequent ear infections|Recurrent ear infections
OBO:HP_0410019	Epigastric pain	biolink:OntologyClass	hp		Pain that is localized to the region of the upper abdomen immediately below the ribs.	http://purl.obolibrary.org/obo/HP_0410019		Epigastrium pain
OBO:HP_0410020	Fish odor	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0410020		Fish odour|Fishy odor|Fishy body odor
OBO:HP_0410021	Musty odor	biolink:OntologyClass	hp		Pungent body odor.	http://purl.obolibrary.org/obo/HP_0410021		Musty odor|Musty odour
OBO:HP_0410022	Vaginal fish odor	biolink:OntologyClass	hp		A fish odor in the vaginal area, that is characteristic of bacterial vaginosis (BV), and is due to trimethylamine (TMA).	http://purl.obolibrary.org/obo/HP_0410022		Vaginal fish odor|Vaginal fish odour
OBO:HP_0410023	Abnormal distribution of cell junction proteins in buccal mucosal cells	biolink:OntologyClass	hp		An anomalous amount or location of cell junction proteins such as plakoglobin or Cx43.	http://purl.obolibrary.org/obo/HP_0410023		
OBO:HP_0410026	Abnormality of the periodontium	biolink:OntologyClass	hp		Any abnormality of the periodontium.	http://purl.obolibrary.org/obo/HP_0410026		
OBO:HP_0410027	Alveolar bone loss around teeth	biolink:OntologyClass	hp		A decrease in the amount of alveolar bone around the root of a tooth.	http://purl.obolibrary.org/obo/HP_0410027		Bone loss around teeth
OBO:HP_0410028	Recurrent oral herpes	biolink:OntologyClass	hp		Recurrent episodes of oral herpes, typically characterized by blisters or ulcers on the gums, lips and/or tongue caused by herpes virus.	http://purl.obolibrary.org/obo/HP_0410028		Recurrent herpes labialis
OBO:HP_0410030	Cleft lip	biolink:OntologyClass	hp		A gap in the lip or lips.	http://purl.obolibrary.org/obo/HP_0410030		Cleft lip|Cleft of the lip
OBO:HP_0410031	Submucous cleft of soft and hard palate	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0410031		
OBO:HP_0410032	obsolete Cleft of uvula	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0410032		
OBO:HP_0410033	Unilateral alveolar cleft of maxilla	biolink:OntologyClass	hp		One sided alveolar cleft of the maxilla.	http://purl.obolibrary.org/obo/HP_0410033		
OBO:HP_0410034	Bilateral alveolar cleft of maxilla	biolink:OntologyClass	hp		Nonmidline alveolar cleft of the maxilla.	http://purl.obolibrary.org/obo/HP_0410034		
OBO:HP_0410035	Abnormal T cell activation	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0410035		Abnormal T lymphocyte activation|Abnormal T-cell activation|Abnormal T-lymphocyte activation
OBO:HP_0410042	Abnormal liver morphology	biolink:OntologyClass	hp	Fyler:4447	Any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage.	http://purl.obolibrary.org/obo/HP_0410042		
OBO:HP_0410043	Abnormal neural tube morphology	biolink:OntologyClass	hp	Fyler:4339	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).	http://purl.obolibrary.org/obo/HP_0410043		
OBO:HP_0410049	Abnormality of radial ray	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0410049		Deformity of radial ray|Radial ray abnormality|Radial ray anomaly|Radial ray deformity
OBO:HP_0410050	Decreased level of 1,5 anhydroglucitol in serum	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0410050		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
OBO:HP_0410051	Increased level of 3-hydroxy-3-methylglutaric acid in urine	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0410051		An increase in the level of 3-hydroxy-3-methylglutaric acid in the urine.
OBO:HP_0410052	Increased level of allantoin in serum	biolink:OntologyClass	hp		An increase in the level of allantoin in the serum.	http://purl.obolibrary.org/obo/HP_0410052		
OBO:HP_0410053	Increased level of GABA in serum	biolink:OntologyClass	hp		An increase in the level of GABA in the serum.	http://purl.obolibrary.org/obo/HP_0410053		Increased level of gamma-aminobutyric acid in serum
OBO:HP_0410054	Decreased level of GABA in serum	biolink:OntologyClass	hp		A decrease in the level of GABA in the serum.	http://purl.obolibrary.org/obo/HP_0410054		Decreased level of gamma-aminobutyric acid in serum
OBO:HP_0410055	Decreased level of erythritol in urine	biolink:OntologyClass	hp		A decrease in the level of erythritol in the urine.	http://purl.obolibrary.org/obo/HP_0410055		
OBO:HP_0410056	Decreased level of erythritol in CSF	biolink:OntologyClass	hp		A decrease in the level of erythritol in the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0410056		Decreased level of erythritol in cerebrospinal fluid
OBO:HP_0410057	Increased level of D-threitol in plasma	biolink:OntologyClass	hp		An increase in the level of D-threitol in the plasma.	http://purl.obolibrary.org/obo/HP_0410057		
OBO:HP_0410058	Increased level of D-threitol in CSF	biolink:OntologyClass	hp		An increase in the level of D-threitol in the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0410058		Increased level of D-threitol in cerebrospinal fluid
OBO:HP_0410059	Increased level of D-threitol in urine	biolink:OntologyClass	hp		An increase in the level of D-threitol in the urine.	http://purl.obolibrary.org/obo/HP_0410059		
OBO:HP_0410060	Decreased level of D-mannose in urine	biolink:OntologyClass	hp		A decrease in the level of D-mannose in the urine.	http://purl.obolibrary.org/obo/HP_0410060		
OBO:HP_0410061	Increased level of galactitol in plasma	biolink:OntologyClass	hp		An increase in the level of galactitol in the plasma.	http://purl.obolibrary.org/obo/HP_0410061		
OBO:HP_0410062	Increased level of galactitol in urine	biolink:OntologyClass	hp		An increase in the level of galactitol in the urine.	http://purl.obolibrary.org/obo/HP_0410062		
OBO:HP_0410063	Increased level of galactonate in red blood cells	biolink:OntologyClass	hp		An increase in the level of galactonate in the red blood cells.	http://purl.obolibrary.org/obo/HP_0410063		Increased level of galactonate in RBCs|Increased level of galactonate in erythrocytes
OBO:HP_0410064	Increased level of galactitol in red blood cells	biolink:OntologyClass	hp		An increase in the level of galactitol in the red blood cells.	http://purl.obolibrary.org/obo/HP_0410064		Increased level of galactitol in erythrocytes
OBO:HP_0410065	Increased level of hippuric acid in blood	biolink:OntologyClass	hp		An increase in the level of hippuric acid in the blood.	http://purl.obolibrary.org/obo/HP_0410065		Increased level of N-benzoylglycine in blood
OBO:HP_0410066	Increased level of hippuric acid in urine	biolink:OntologyClass	hp		An increase in the level of hippuric acid in the urine.	http://purl.obolibrary.org/obo/HP_0410066		Increased level of N-benzoylglycine in urine
OBO:HP_0410067	Increased level of L-fucose in urine	biolink:OntologyClass	hp		An increase in the level of L-fucose in the urine.	http://purl.obolibrary.org/obo/HP_0410067		
OBO:HP_0410068	Increased level of L-glutamic acid in blood	biolink:OntologyClass	hp		An increase in the level of L-glutamic acid in the blood.	http://purl.obolibrary.org/obo/HP_0410068		
OBO:HP_0410069	Increased level of propylene glycol in blood	biolink:OntologyClass	hp		An increase in the level of propylene glycol in the blood.	http://purl.obolibrary.org/obo/HP_0410069		Increased level of propane-1,2-diol in blood
OBO:HP_0410070	Increased level of ribitol in urine	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0410070		
OBO:HP_0410071	Increased level of ribitol in CSF	biolink:OntologyClass	hp		An increase in the level of ribitol in the cerebral spinal fluid.	http://purl.obolibrary.org/obo/HP_0410071		Increased level of ribitol in cerebrospinal fluid
OBO:HP_0410072	Increased level of ribose in urine	biolink:OntologyClass	hp		An increase in the level of ribose in the urine.	http://purl.obolibrary.org/obo/HP_0410072		
OBO:HP_0410073	Increased level of ribose in CSF	biolink:OntologyClass	hp		An increase in the level of ribose in the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0410073		Increased level of ribose in cerebrospinal fluid
OBO:HP_0410074	Increased level of xylitol in urine	biolink:OntologyClass	hp		An increase in the level of xylitol in the urine.	http://purl.obolibrary.org/obo/HP_0410074		
OBO:HP_0410075	Increased level of xylitol in CSF	biolink:OntologyClass	hp		An increase in the level of xylitol in the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0410075		Increased level of xylitol in cerebrospinal fluid
OBO:HP_0410132	Increased level of L-pyroglutamic acid in urine	biolink:OntologyClass	hp		An increase in the level of L-pyroglutamic acid in the urine.	http://purl.obolibrary.org/obo/HP_0410132		Elevated urine 5-oxoproline|Increased level of 5-oxo-L-proline in urine
OBO:HP_0410133	Chronic idiopathic urticaria	biolink:OntologyClass	hp		Urticaria characterized by spontaneously recurring hives for 6 weeks or longer.	http://purl.obolibrary.org/obo/HP_0410133		CIU|CSU|Chronic spontaneous urticaria
OBO:HP_0410134	Physical urticaria	biolink:OntologyClass	hp		Urticaria caused by physical agents, such as heat, cold, light, friction.	http://purl.obolibrary.org/obo/HP_0410134		
OBO:HP_0410135	Cold urticaria	biolink:OntologyClass	hp		Urticaria may be caused by cold temperatures.	http://purl.obolibrary.org/obo/HP_0410135		
OBO:HP_0410136	Aquagenic urticaria	biolink:OntologyClass	hp		A form of physical urticaria, in which contact with water, regardless of its temperature and source, evokes pruritic follicular wheals on the skin.	http://purl.obolibrary.org/obo/HP_0410136		
OBO:HP_0410137	Solar urticaria	biolink:OntologyClass	hp		Urticaria in response to exposure to ultraviolet-A (UVA), ultraviolet-B (UVB), visible and rarely infrared light.	http://purl.obolibrary.org/obo/HP_0410137		
OBO:HP_0410138	Vibratory urticaria	biolink:OntologyClass	hp		Urticaria in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum.	http://purl.obolibrary.org/obo/HP_0410138		
OBO:HP_0410139	Exercise induced anaphylaxis	biolink:OntologyClass	hp		Anaphylaxis after physical activity.	http://purl.obolibrary.org/obo/HP_0410139		
OBO:HP_0410144	Abnormal biotinidase level	biolink:OntologyClass	hp		An abnormality in the biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation.	http://purl.obolibrary.org/obo/HP_0410144		
OBO:HP_0410145	Decreased biotinidase level	biolink:OntologyClass	hp		A decrease in the biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation.	http://purl.obolibrary.org/obo/HP_0410145		
OBO:HP_0410146	Increased biotinidase level	biolink:OntologyClass	hp		An increase in biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation.	http://purl.obolibrary.org/obo/HP_0410146		
OBO:HP_0410147	Eosinophilic infiltration in the stomach mucosa	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0410147		Eosinophilic gastritis
OBO:HP_0410148	Idiopathic anaphylaxis	biolink:OntologyClass	hp		A rare form of anaphylaxis for which triggers cannot be identified despite a detailed history and careful diagnostic assessment.	http://purl.obolibrary.org/obo/HP_0410148		
OBO:HP_0410149	Drug-induced anaphylaxis	biolink:OntologyClass	hp		A form of anaphylaxis that is triggered by intake of drugs or medications.	http://purl.obolibrary.org/obo/HP_0410149		Drug induced anaphylaxis
OBO:HP_0410151	Eosinophilic infiltration of the esophagus	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0410151		Eosinophilic esophagitis|Eosinophilic infiltration of the oesophagus
OBO:HP_0410152	Eosinophilic microabscess formation in the esophagus	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0410152		Eosinophilic micro-abscess formation in the esophagus|Eosinophilic microabscess formation in the oesophagus
OBO:HP_0410153	Increased level of methylsuccinic acid in urine	biolink:OntologyClass	hp		An increase in the level of methylsuccinic acid in the urine.	http://purl.obolibrary.org/obo/HP_0410153		Increased level of pyrotartaric acid in urine
OBO:HP_0410154	Increased level of myristic acid in serum	biolink:OntologyClass	hp		An increase in the level of myristic acid in the serum.	http://purl.obolibrary.org/obo/HP_0410154		Increased level of tetradecanoic acid in serum
OBO:HP_0410156	Increased level of N-acetylneuraminic acid in urine	biolink:OntologyClass	hp		An increase in the level of N-acetylneuraminic acid in the urine.	http://purl.obolibrary.org/obo/HP_0410156		Increased level of NANA in urine|Increased level of Neu5Ac in urine
OBO:HP_0410157	Increased level of N-acetylneuraminic acid in fibroblasts	biolink:OntologyClass	hp		An increase in the level of N-acetylneuraminic acid in cultured fibroblasts.	http://purl.obolibrary.org/obo/HP_0410157		Increased level of NANA in fibroblasts|Increased level of Neu5Ac in fibroblasts|Increased level of sialic acid in fibroblasts
OBO:HP_0410158	Increased urine O-phosphoethanolamine level	biolink:OntologyClass	hp		An increase in the level of O-phosphoethanolamine in the urine.	http://purl.obolibrary.org/obo/HP_0410158		Increased level of O-phosphoethanolamine in urine
OBO:HP_0410166	Defective interstrand cross-link repair	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0410166		
OBO:HP_0410167	Abnormal morphology of the chest musculature	biolink:OntologyClass	hp		Any abnormality of the chest muscles.	http://purl.obolibrary.org/obo/HP_0410167		Muscle issues in the chest|Abnormality of the chest musculature
OBO:HP_0410168	Abnormality of the back musculature	biolink:OntologyClass	hp		Any abnormality of the back muscles.	http://purl.obolibrary.org/obo/HP_0410168		Muscle issues in the back
OBO:HP_0410169	Abnormal morphology of the shoulder musculature	biolink:OntologyClass	hp		Any abnormality of the shoulder muscles.	http://purl.obolibrary.org/obo/HP_0410169		Muscle issues in the shoulder|Abnormality of the shoulder musculature
OBO:HP_0410170	Hippocampal atrophy	biolink:OntologyClass	hp		Partial or complete wasting (loss) of hippocampus tissue that was once present.	http://purl.obolibrary.org/obo/HP_0410170		Atrophy of the hippocampus|Degeneration of the hippocampus
OBO:HP_0410171	Increased cotinine level	biolink:OntologyClass	hp		Increased concentration of cotinine in urine.	http://purl.obolibrary.org/obo/HP_0410171		
OBO:HP_0410172	Blood xenobiotic	biolink:OntologyClass	hp		The presence of a xenobiotic in blood.	http://purl.obolibrary.org/obo/HP_0410172		
OBO:HP_0410173	Increased troponin I level in blood	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0410173		
OBO:HP_0410174	Increased troponin T level in blood	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0410174		
OBO:HP_0410175	Hyperketonemia	biolink:OntologyClass	hp		An increase in the level of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the blood.	http://purl.obolibrary.org/obo/HP_0410175		Increased level of ketone bodies in blood|Elevated circulating ketone body concentration|Ketonemia
OBO:HP_0410176	Abnormal glucose-6-phosphate dehydrogenase level	biolink:OntologyClass	hp		An anomaly in the level of glucose-6-phosphate dehydrogenase.	http://purl.obolibrary.org/obo/HP_0410176		Abnormal G6PD level
OBO:HP_0410177	Abnormal glucose-6-phosphate dehydrogenase level in blood	biolink:OntologyClass	hp		An anomaly in the level of glucose-6-phosphate dehydrogenase in the blood.	http://purl.obolibrary.org/obo/HP_0410177		Abnormal G6PD level in blood
OBO:HP_0410178	Increased glucose-6-phosphate dehydrogenase level in blood	biolink:OntologyClass	hp		An increase in the level of glucose-6-phosphate dehydrogenase in the blood.	http://purl.obolibrary.org/obo/HP_0410178		Increased G6PD level in blood
OBO:HP_0410179	Decreased glucose-6-phosphate dehydrogenase level in blood	biolink:OntologyClass	hp		A decrease in the level of glucose-6-phosphate dehydrogenase in the blood.	http://purl.obolibrary.org/obo/HP_0410179		Decreased G6PD level in blood
OBO:HP_0410180	Abnormal glucose-6-phosphate dehydrogenase level in dried blood spot	biolink:OntologyClass	hp		An anomaly in the level of glucose-6-phosphate dehydrogenase in a dried blood spot.	http://purl.obolibrary.org/obo/HP_0410180		Abnormal G6PD level in dried blood spot|Abnormal glucose-6-phosphate dehydrogenase level in DBS
OBO:HP_0410181	Increased glucose-6-phosphate dehydrogenase level in dried blood spot	biolink:OntologyClass	hp		An increase in the level of glucose-6-phosphate dehydrogenase in a dried blood spot.	http://purl.obolibrary.org/obo/HP_0410181		Increased G6PD level in dried blood spot|Increased glucose-6-phosphate dehydrogenase level in DBS
OBO:HP_0410182	Decreased glucose-6-phosphate dehydrogenase level in dried blood spot	biolink:OntologyClass	hp		A decrease in the level of glucose-6-phosphate dehydrogenase in a dried blood spot.	http://purl.obolibrary.org/obo/HP_0410182		Decreased G6PD level in dried blood spot|Decreased glucose-6-phosphate dehydrogenase level in DBS
OBO:HP_0410183	Abnormal glucose-6-phosphate dehydrogenase level in leukocytes	biolink:OntologyClass	hp		An anomaly in the level of glucose-6-phosphate dehydrogenase in leukocytes.	http://purl.obolibrary.org/obo/HP_0410183		Abnormal G6PD level in leukocytes
OBO:HP_0410184	Abnormal glucose-6-phosphate dehydrogenase level in red blood cells	biolink:OntologyClass	hp		An anomaly in the level of glucose-6-phosphate dehydrogenase in red blood cells.	http://purl.obolibrary.org/obo/HP_0410184		Abnormal G6PD level in RBCs|Abnormal G6PD level in red blood cells
OBO:HP_0410185	Abnormal glucose-6-phosphate dehydrogenase level in tissue	biolink:OntologyClass	hp		An anomaly in the level of glucose-6-phosphate dehydrogenase in tissue.	http://purl.obolibrary.org/obo/HP_0410185		Abnormal G6PD level in tissue
OBO:HP_0410186	Increased glucose-6-phosphate dehydrogenase level in tissue	biolink:OntologyClass	hp		An increase in the level of glucose-6-phosphate dehydrogenase in tissue.	http://purl.obolibrary.org/obo/HP_0410186		Increased G6PD level in tissue
OBO:HP_0410187	Decreased glucose-6-phosphate dehydrogenase level in tissue	biolink:OntologyClass	hp		A decrease in the level of glucose-6-phosphate dehydrogenase in tissue.	http://purl.obolibrary.org/obo/HP_0410187		Decreased G6PD level in tissue
OBO:HP_0410188	Decreased glucose-6-phosphate dehydrogenase level in red blood cells	biolink:OntologyClass	hp		A decrease in the level of glucose-6-phosphate dehydrogenase in red blood cells.	http://purl.obolibrary.org/obo/HP_0410188		Decreased G6PD level in RBCs|Decreased G6PD level in red blood cells
OBO:HP_0410189	Increased glucose-6-phosphate dehydrogenase level in red blood cells	biolink:OntologyClass	hp		An increase in the level of glucose-6-phosphate dehydrogenase in red blood cells.	http://purl.obolibrary.org/obo/HP_0410189		Increased G6PD level in RBCs|Increased G6PD level in red blood cells
OBO:HP_0410190	Decreased glucose-6-phosphate dehydrogenase level in leukocytes	biolink:OntologyClass	hp		A decrease in the level of glucose-6-phosphate dehydrogenase in leukocytes.	http://purl.obolibrary.org/obo/HP_0410190		Decreased G6PD level in leukocytes
OBO:HP_0410191	Increased glucose-6-phosphate dehydrogenase level in leukocytes	biolink:OntologyClass	hp		An increase in the level of glucose-6-phosphate dehydrogenase in leukocytes.	http://purl.obolibrary.org/obo/HP_0410191		Increased G6PD level in leukocytes
OBO:HP_0410192	Abnormal uridine diphosphate glucose-4-epimerase level	biolink:OntologyClass	hp		An abnormality in uridine diphosphate glucose-4-epimerase level, an enzyme that catalyzes the reaction: UDP-glucose = UDP-galactose.	http://purl.obolibrary.org/obo/HP_0410192		Abnormal UDP-glucose 4-epimerase level
OBO:HP_0410193	Abnormal uridine diphosphate glucose-4-epimerase level in plasma	biolink:OntologyClass	hp		An abnormality in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.	http://purl.obolibrary.org/obo/HP_0410193		Abnormal UDP-glucose 4-epimerase activity level in plasma
OBO:HP_0410194	Increased uridine diphosphate glucose-4-epimerase level in plasma	biolink:OntologyClass	hp		An increase in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.	http://purl.obolibrary.org/obo/HP_0410194		Increased UDP-glucose 4-epimerase level in plasma
OBO:HP_0410195	Decreased uridine diphosphate glucose-4-epimerase level in plasma	biolink:OntologyClass	hp		A decrease in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.	http://purl.obolibrary.org/obo/HP_0410195		Decreased UDP-glucose 4-epimerase level in plasma
OBO:HP_0410196	Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0410196		Abnormal UDP-glucose 4-epimerase level in RBCs|Abnormal UDP-glucose 4-epimerase level in red blood cells
OBO:HP_0410197	Increased uridine diphosphate glucose-4-epimerase level in red blood cells	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0410197		Increased UDP-glucose 4-epimerase level in RBCs|Increased UDP-glucose 4-epimerase level in red blood cells
OBO:HP_0410198	Decreased uridine diphosphate glucose-4-epimerase level in red blood cells	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0410198		Decreased UDP-glucose 4-epimerase level in RBCs|Decreased UDP-glucose 4-epimerase level in red blood cells
OBO:HP_0410199	Increased CSF urate concentration	biolink:OntologyClass	hp		Increased concentration of urate in the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0410199		Elevated CSF urate concentration|Increased cerebrospinal fluid urate
OBO:HP_0410200	Positive meconium barbiturate test	biolink:OntologyClass	hp		Detection of barbiturate metabolites such as phenobarbital in meconium.	http://purl.obolibrary.org/obo/HP_0410200		
OBO:HP_0410201	Positive hair barbiturate test	biolink:OntologyClass	hp		Detection of barbiturate metabolites such as phenobarbital in the hair.	http://purl.obolibrary.org/obo/HP_0410201		
OBO:HP_0410202	Positive stool barbiturate test	biolink:OntologyClass	hp		Detection of barbiturate metabolites such as phenobarbital in the stool.	http://purl.obolibrary.org/obo/HP_0410202		
OBO:HP_0410203	Positive gastric fluid barbiturate test	biolink:OntologyClass	hp		Detection of barbiturate metabolites such as phenobarbital in the gastric fluid.	http://purl.obolibrary.org/obo/HP_0410203		
OBO:HP_0410204	Increased intestinal transit time	biolink:OntologyClass	hp		An increase in the length of time required for food to pass through the intestines.	http://purl.obolibrary.org/obo/HP_0410204		
OBO:HP_0410205	Abnormal circulating nicotinurate concentration	biolink:OntologyClass	hp		Any deviation from the normal concentration of nicotinurate in the blood.	http://purl.obolibrary.org/obo/HP_0410205		Abnormal circulating N-nicotinoylglycine level|Abnormal circulating nicotinurate level
OBO:HP_0410206	Increased circulating nicotinurate level	biolink:OntologyClass	hp		An increased amount of nicotinurate in the blood.	http://purl.obolibrary.org/obo/HP_0410206		Increased circulating N-nicotinoylglycine level
OBO:HP_0410207	Positive methadone plasma/serum test	biolink:OntologyClass	hp		Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in plasma or serum.	http://purl.obolibrary.org/obo/HP_0410207		
OBO:HP_0410208	Positive plasma/serum cotinine test	biolink:OntologyClass	hp		Detection of cotinine, an alkaloid found in tobacco and the predominant metabolite of nicotine, in plasma or serum.	http://purl.obolibrary.org/obo/HP_0410208		
OBO:HP_0410209	Folate deficiency in CSF	biolink:OntologyClass	hp		A reduced concentration of folic acid, which is also known as vitamin B9 in the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0410209		Folate deficiency in cerebrospinal fluid
OBO:HP_0410210	Abnormal cord blood measurement	biolink:OntologyClass	hp		An abnormality in any umbilical cord measurement performed after birth, such as the blood gas level.	http://purl.obolibrary.org/obo/HP_0410210		
OBO:HP_0410211	Abnormal blood gas level in cord blood	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0410211		
OBO:HP_0410212	Hyperoxemia in cord blood	biolink:OntologyClass	hp		An abnormally high level of blood oxygen in the cord blood.	http://purl.obolibrary.org/obo/HP_0410212		High cord blood oxygen level
OBO:HP_0410213	Hypoxemia in cord blood	biolink:OntologyClass	hp		An abnormally low level of blood oxygen in the cord blood.	http://purl.obolibrary.org/obo/HP_0410213		Low cord blood oxygen level
OBO:HP_0410214	Hypercapnia in cord blood	biolink:OntologyClass	hp		Abnormally elevated blood carbon dioxide (CO2) level in the cord blood.	http://purl.obolibrary.org/obo/HP_0410214		High cord blood carbon dioxide level
OBO:HP_0410215	Hypocapnia in cord blood	biolink:OntologyClass	hp		Abnormally decreased blood carbon dioxide (CO2) level in the cord blood.	http://purl.obolibrary.org/obo/HP_0410215		Low cord blood carbon dioxide level
OBO:HP_0410216	Abnormal blood 5-methyltetrahydrofolate level	biolink:OntologyClass	hp		An abnormal concentration of 5-methyltetrahydrofolate in the blood.	http://purl.obolibrary.org/obo/HP_0410216		Abnormal serum methylfolate Level
OBO:HP_0410217	Reduced blood 5-methyltetrahydrofolate level	biolink:OntologyClass	hp		A decreased concentration of 5-methyltetrahydrofolate in the blood.	http://purl.obolibrary.org/obo/HP_0410217		Reduced serum methylfolate Level
OBO:HP_0410218	Hypoplasia of maxilla relative to mandible	biolink:OntologyClass	hp		Abnormally small dimension of the maxilla (upper jaw) relative to the mandible (lower jaw).	http://purl.obolibrary.org/obo/HP_0410218		Disorder of maxillary and mandibular dental arch relationship
OBO:HP_0410219	Hypoplasia of mandible relative to maxilla	biolink:OntologyClass	hp		Abnormally small dimension of the mandible (lower jaw) relative to the maxilla (upper jaw).	http://purl.obolibrary.org/obo/HP_0410219		Disorder of mandibular and maxillary dental arch relationship
OBO:HP_0410220	Increased anti-dairy protein IgE antibody level	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0410220		Increased anti-dairy IgE antibody level
OBO:HP_0410221	Increased anti-animal protein IgE antibody level	biolink:OntologyClass	hp		Increased level of IgE antibody against animal proteins, such as albumins that are present in animal hair, dander, shed skin, saliva and urine.	http://purl.obolibrary.org/obo/HP_0410221		Increased level of anti-animal protein IgE antibody
OBO:HP_0410222	Increased anti-seafood IgE antibody level	biolink:OntologyClass	hp		Increased level of IgE antibody against seafood, including fish, shrimp, lobster, crab, squid and abalone.	http://purl.obolibrary.org/obo/HP_0410222		Increased level of anti-seafood IgE antibody
OBO:HP_0410223	Increased anti-dust mite IgE antibody level	biolink:OntologyClass	hp		Increased level of IgE antibody against dust mites, such as house dust mites.	http://purl.obolibrary.org/obo/HP_0410223		Increased level of anti-dust mite IgE antibody
OBO:HP_0410224	Increased anti-bacteria IgE antibody level	biolink:OntologyClass	hp		Increased level of IgE antibody against bacteria.	http://purl.obolibrary.org/obo/HP_0410224		Increased level of anti-bacteria IgE antibody
OBO:HP_0410225	Increased anti-drug IgE antibody level	biolink:OntologyClass	hp		Increased level of IgE antibody against a drug or class of drugs, such as antibiotics.	http://purl.obolibrary.org/obo/HP_0410225		Increased level of anti-drug IgE antibody
OBO:HP_0410226	Increased anti-feather IgE antibody level	biolink:OntologyClass	hp		Increased level of IgE antibody against feathers, which could be indicative of an allergy against feathers themselves, or mite allergens present in feathers.	http://purl.obolibrary.org/obo/HP_0410226		
OBO:HP_0410227	Increased anti-food allergen IgE antibody level	biolink:OntologyClass	hp		Increased level of IgE antibody against proteins found in foods, such as milk, egg, soy, wheat, peanut, treenut, fish, and shellfish.	http://purl.obolibrary.org/obo/HP_0410227		Increased level of anti-food allergen IgE antibody
OBO:HP_0410228	Increased anti-plant based food allergen IgE antibody level	biolink:OntologyClass	hp		Increased level of IgE antibody against a plant based food allergen, including vegetables and fruits.	http://purl.obolibrary.org/obo/HP_0410228		Increased level of anti-plant based food allergen IgE antibody
OBO:HP_0410229	Increased anti-gluten IgE antibody level	biolink:OntologyClass	hp		Increased level of IgE antibody against gluten, a protein found in wheat, barley, and rye.	http://purl.obolibrary.org/obo/HP_0410229		Increased level of anti-gluten IgE antibody
OBO:HP_0410230	Increased anti-nut food product IgE antibody level	biolink:OntologyClass	hp		Increased level of IgE antibody against nut food products such as peanuts or tree nuts, such as hazelnuts, walnuts, cashews, and almonds.	http://purl.obolibrary.org/obo/HP_0410230		
OBO:HP_0410231	Increased anti-egg IgE antibody level	biolink:OntologyClass	hp		Increased level of IgE antibody against eggs, including egg whites, egg yolks, and egg proteins such as ovoalbumin and ovomucoid.	http://purl.obolibrary.org/obo/HP_0410231		
OBO:HP_0410232	Increased anti-fungi IgE antibody level	biolink:OntologyClass	hp		Increased level of IgE antibody against fungus, such as molds like zygomycota, ascomycota and deuteromycota.	http://purl.obolibrary.org/obo/HP_0410232		Increased anti-fungal IgE antibody level|Increased anti-fungus IgE antibody level
OBO:HP_0410233	Increased anti-meat allergen IgE antibody level	biolink:OntologyClass	hp		Increased level of IgE antibody against meat, such as mammalian meat, including beef or pork, or poultry, like duck or chicken.	http://purl.obolibrary.org/obo/HP_0410233		
OBO:HP_0410234	Increased anti-parasite IgE antibody level	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0410234		
OBO:HP_0410235	Increased anti-insect IgE antibody level	biolink:OntologyClass	hp		Increased level of IgE antibody against antigens from insects such as moths, mosquitos, or cockroaches.	http://purl.obolibrary.org/obo/HP_0410235		
OBO:HP_0410236	Increased anti-venom IgE antibody level	biolink:OntologyClass	hp		Increased level of IgE antibody against venom from insects such as bees, wasps, hornets, yellowjackets.	http://purl.obolibrary.org/obo/HP_0410236		
OBO:HP_0410238	Increased anti-plant product IgE antibody level	biolink:OntologyClass	hp		Increased level of IgE antibody against antigens from plants and products derived from plants, such as wood or pollen.	http://purl.obolibrary.org/obo/HP_0410238		
OBO:HP_0410239	Positive urine norcotinine test	biolink:OntologyClass	hp		Detection of norcotinine, a metabolite of nicotine, in urine.	http://purl.obolibrary.org/obo/HP_0410239		
OBO:HP_0410240	Abnormal circulating IgA level	biolink:OntologyClass	hp		An abnormal deviation from normal levels of IgA immunoglobulin in blood.	http://purl.obolibrary.org/obo/HP_0410240		Abnormal IgA level in blood
OBO:HP_0410241	Abnormal circulating IgE level	biolink:OntologyClass	hp		An abnormal deviation from normal levels of IgE immunoglobulin in blood.	http://purl.obolibrary.org/obo/HP_0410241		Abnormal IgE level in blood
OBO:HP_0410242	Abnormal circulating IgG level	biolink:OntologyClass	hp		An abnormal deviation from normal levels of IgG immunoglobulin in blood.	http://purl.obolibrary.org/obo/HP_0410242		Abnormal IgG level in blood
OBO:HP_0410243	Abnormal circulating IgM level	biolink:OntologyClass	hp		An abnormal deviation from normal levels of IgM immunoglobulin in blood.	http://purl.obolibrary.org/obo/HP_0410243		Abnormal IgM level in blood
OBO:HP_0410244	Abnormal circulating IgD level	biolink:OntologyClass	hp		An abnormal deviation from normal levels of IgD immunoglobulin in blood.	http://purl.obolibrary.org/obo/HP_0410244		Abnormal IgD level in blood
OBO:HP_0410245	Decreased circulating IgD	biolink:OntologyClass	hp		An abnormally decreased level of immunoglobulin D (IgD) in blood.	http://purl.obolibrary.org/obo/HP_0410245		Decreased IgD|Decreased IgD in blood|IgD deficiency
OBO:HP_0410246	Increased circulating IgD level	biolink:OntologyClass	hp		An abnormally increased level of immunoglobulin D in blood.	http://purl.obolibrary.org/obo/HP_0410246		Elevated IgD|Elevated serum IgD|IgD hypergammaglobulinemia|Increased IgD level|Increased levels of IgD|Increased serum IgD
OBO:HP_0410247	Increased anti-animal dander IgE antibody level	biolink:OntologyClass	hp		Increased level of IgE antibody against animal dander, tiny scales shed from animal skin or hair, such as from pet dogs or cats.	http://purl.obolibrary.org/obo/HP_0410247		Increased level of anti-dander IgE antibody
OBO:HP_0410248	Increased anti-house dust mite IgE antibody level	biolink:OntologyClass	hp		Increased level of IgE antibody against house dust mites, a common allergen.	http://purl.obolibrary.org/obo/HP_0410248		Increased anti-house dust IgE antibody level|Increased level of anti-house dust IgE antibody
OBO:HP_0410249	Increased anti-alpha-gal IgE antibody level	biolink:OntologyClass	hp		Increased level of IgE antibody against galactose-alpha-1, 3 galactose (alpha-gal), a carbohydrate found in mammalian meat.	http://purl.obolibrary.org/obo/HP_0410249		Increased anti-galactose-alpha-1, 3 galactose IgE antibody level
OBO:HP_0410251	Abnormal L-selectin shedding	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0410251		
OBO:HP_0410252	Chronic neutropenia	biolink:OntologyClass	hp		Neutropenia with an absolute neutrophil count (ANC) less than 1,500,000,000/L lasting for more than 3 months.	http://purl.obolibrary.org/obo/HP_0410252		
OBO:HP_0410253	Myeloid maturation arrest	biolink:OntologyClass	hp		Chornic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow.	http://purl.obolibrary.org/obo/HP_0410253		Myeloid maturation arrest in bone marrow
OBO:HP_0410254	Cyclic neutropenia in myeloid maturation arrest in bone marrow	biolink:OntologyClass	hp		Cyclic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow.	http://purl.obolibrary.org/obo/HP_0410254		
OBO:HP_0410255	Transient neutropenia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0410255		
OBO:HP_0410256	Infection associated neutropenia	biolink:OntologyClass	hp		Transient neutropenia caused by an infection, such as with a virus, bacteria or protozoan.	http://purl.obolibrary.org/obo/HP_0410256		
OBO:HP_0410257	Neutrophilia in presence of infection	biolink:OntologyClass	hp		An increased number of neutrophils circulating in the blood during an infection, such as with a bacteria, virus or fungus.	http://purl.obolibrary.org/obo/HP_0410257		
OBO:HP_0410258	Neutrophilia in absence of infection	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0410258		
OBO:HP_0410259	Hepatopulmonary fusion	biolink:OntologyClass	hp		Fusion of the liver with the lung.	http://purl.obolibrary.org/obo/HP_0410259		Hepatic pulmonary fusion
OBO:HP_0410260	Asymmetrical gluteal crease	biolink:OntologyClass	hp		The presence of an asymmetrical gluteal crease, the horizontal crease formed by the inferior aspect of the buttocks and the posterior upper leg.	http://purl.obolibrary.org/obo/HP_0410260		Asymmetrical buttock crease|Asymmetrical gluteal sulcus|Asymmetrical horizontal gluteal crease
OBO:HP_0410261	Wide space between 4th and 5th toe	biolink:OntologyClass	hp		A widely spaced gap between the fourth toe and the fifth (pinky) toe.	http://purl.obolibrary.org/obo/HP_0410261		Wide space between the 4th and 5th toe
OBO:HP_0410262	Lower cranial nerve dysfunction	biolink:OntologyClass	hp		A functional abnormality affecting the lower cranial nerves, which include the paired 9th (glossopharyngeal), 10th (vagal), 11th (accessory) and 12th (hypoglossal) cranial nerves.	http://purl.obolibrary.org/obo/HP_0410262		Abnormal lower cranial nerve function
OBO:HP_0410263	Brain imaging abnormality	biolink:OntologyClass	hp		An anomaly of metabolism or structure of the brain identified by imaging.	http://purl.obolibrary.org/obo/HP_0410263		Abnormal brain imaging
OBO:HP_0410264	Subglottic hemangioma	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0410264		Airway hemangioma
OBO:HP_0410265	Supraglottic hemangioma	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0410265		
OBO:HP_0410266	Visceral hemangioma	biolink:OntologyClass	hp		A hemangioma arising from within visceral structures, the internal organs of the body.	http://purl.obolibrary.org/obo/HP_0410266		
OBO:HP_0410267	Intestinal hemangioma	biolink:OntologyClass	hp		A hemangioma, a benign tumor of the vascular endothelial cells, located in the intestines, which includes the bowel.	http://purl.obolibrary.org/obo/HP_0410267		Bowel hemangioma|Intestinal hemangioma
OBO:HP_0410268	Spleen hemangioma	biolink:OntologyClass	hp		A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the spleen.	http://purl.obolibrary.org/obo/HP_0410268		Splenic hemangioma
OBO:HP_0410269	Labial hemangioma	biolink:OntologyClass	hp		A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the upper lip.	http://purl.obolibrary.org/obo/HP_0410269		
OBO:HP_0410270	Esophageal hemangioma	biolink:OntologyClass	hp		A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the esophagus.	http://purl.obolibrary.org/obo/HP_0410270		
OBO:HP_0410271	Laryngeal hemangioma	biolink:OntologyClass	hp		A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the glottic or supraglottic regions.	http://purl.obolibrary.org/obo/HP_0410271		Throat hemangioma
OBO:HP_0410272	Vulvar hemangioma	biolink:OntologyClass	hp		A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the vulva.	http://purl.obolibrary.org/obo/HP_0410272		
OBO:HP_0410273	Retropharyngeal hemangioma	biolink:OntologyClass	hp	NCIT:C3085	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.	http://purl.obolibrary.org/obo/HP_0410273		
OBO:HP_0410274	Paraspinal hemangioma	biolink:OntologyClass	hp		A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the paraspinal muscular region, the muscles next to the spine.	http://purl.obolibrary.org/obo/HP_0410274		
OBO:HP_0410275	Lumbosacral hemangioma	biolink:OntologyClass	hp		A spinal cord hemangioma located in the lumbosacral spine region.	http://purl.obolibrary.org/obo/HP_0410275		Lumbar/sacral hemangioma
OBO:HP_0410276	Supraumbilical raphe	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0410276		Midline supraumbilical raphe
OBO:HP_0410277	Sternal pit	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0410277		
OBO:HP_0410278	Pituitary gland cyst	biolink:OntologyClass	hp		A fluid-filled sacs that develop on or near the pituitary gland.	http://purl.obolibrary.org/obo/HP_0410278		Cyst of the pituitary gland
OBO:HP_0410279	Atrophic pituitary gland	biolink:OntologyClass	hp		Partial or complete wasting (loss) of the pituitary gland.	http://purl.obolibrary.org/obo/HP_0410279		Atrophic pituitary|Pituitary gland atrophy
OBO:HP_0410280	Pediatric onset	biolink:OntologyClass	hp		Onset of disease manifestations before adulthood, defined here as before the age of 15 years, but excluding neonatal or congenital onset.	http://purl.obolibrary.org/obo/HP_0410280		Paediatric onset|Onset before adulthood
OBO:HP_0410281	Dyspepsia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0410281		Indigestion
OBO:HP_0410282	Abnormal circulating amylase level	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0410282		
OBO:HP_0410283	Positive blood acetaminophen test	biolink:OntologyClass	hp		Detection of acetaminophen in the blood.	http://purl.obolibrary.org/obo/HP_0410283		Positive blood Tylenol test|Positive blood paracetamol test
OBO:HP_0410284	Positive norpropoxyphene blood test	biolink:OntologyClass	hp		Detection of norpropoxyphene in the blood, a major metabolite of the opioid analgesic drug dextropropoxyphene.	http://purl.obolibrary.org/obo/HP_0410284		
OBO:HP_0410285	Positive meconium methadone test	biolink:OntologyClass	hp		Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in meconium.	http://purl.obolibrary.org/obo/HP_0410285		
OBO:HP_0410286	Positive blood molindone test	biolink:OntologyClass	hp		Detection of molindone in the blood, an antipyschotic used for treatment of schizophrenia.	http://purl.obolibrary.org/obo/HP_0410286		Positive blood Moban test
OBO:HP_0410287	Intrathoracic hemangioma	biolink:OntologyClass	hp		A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the intrathoracic or chest region.	http://purl.obolibrary.org/obo/HP_0410287		Chest hemangioma
OBO:HP_0410288	Hyperamylasemia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0410288		Increased circulating amylase level
OBO:HP_0410289	Hypoamylasemia	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0410289		Decreased circulating amylase level
OBO:HP_0410290	Positive urine norpropoxyphene test	biolink:OntologyClass	hp		Detection of norpropoxyphene in urine.	http://purl.obolibrary.org/obo/HP_0410290		
OBO:HP_0410291	Negativism	biolink:OntologyClass	hp		Opposing or not responding to instructions or external stimuli.	http://purl.obolibrary.org/obo/HP_0410291		
OBO:HP_0410292	Abnormal isohemagglutinin level	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0410292		Abnormal level of natural antibody to blood group agents|Abnormal natural antibody level to blood group antigens in blood (isohemagglutinin)
OBO:HP_0410293	Absent isohemagglutinin level	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0410293		Absent natural antibody to blood group agents|Complete or near-complete absence of isohemagglutinins
OBO:HP_0410294	Decreased specific antibody response to protein vaccine	biolink:OntologyClass	hp		A reduced ability to synthesize postvaccination antibodies against proteins in vaccines, as measured by antibody titer determination following vaccination.	http://purl.obolibrary.org/obo/HP_0410294		
OBO:HP_0410295	Complete or near-complete absence of specific antibody response to tetanus vaccine	biolink:OntologyClass	hp		The inability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination.	http://purl.obolibrary.org/obo/HP_0410295		
OBO:HP_0410296	Complete or near-complete absence of specific antibody response to hepatitis B vaccine	biolink:OntologyClass	hp		The inability to synthesize postvaccination antibodies against a hepatisis B antigen, as measured by antibody titer determination following vaccination.	http://purl.obolibrary.org/obo/HP_0410296		
OBO:HP_0410297	Partial absence of specific antibody response to tetanus vaccine	biolink:OntologyClass	hp		A reduced ability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination.	http://purl.obolibrary.org/obo/HP_0410297		
OBO:HP_0410298	Partial absence of specific antibody response to hepatitis B vaccine	biolink:OntologyClass	hp		A reduced ability to synthesize postvaccination antibodies against a hepatitis B antigen, as measured by antibody titer determination following vaccination.	http://purl.obolibrary.org/obo/HP_0410298		
OBO:HP_0410299	Decreased specific antibody response to polysaccharide vaccine	biolink:OntologyClass	hp		A reduced ability to synthesize postvaccination antibodies against polysaccharides in vaccines, as measured by antibody titer determination following vaccination.	http://purl.obolibrary.org/obo/HP_0410299		
OBO:HP_0410300	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine	biolink:OntologyClass	hp		The inability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination.	http://purl.obolibrary.org/obo/HP_0410300		
OBO:HP_0410301	Partial absence of specific antibody response to unconjugated pneumococcus vaccine	biolink:OntologyClass	hp		A reduced ability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination.	http://purl.obolibrary.org/obo/HP_0410301		
OBO:HP_0410302	Decreased specific antibody response to protein-conjugated polysaccharide vaccine	biolink:OntologyClass	hp		A reduced ability to synthesize postvaccination antibodies against protein-conjugated polysaccharides in vaccines, as measured by antibody titer determination following vaccination.	http://purl.obolibrary.org/obo/HP_0410302		
OBO:HP_0410303	Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine	biolink:OntologyClass	hp		The inability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination.	http://purl.obolibrary.org/obo/HP_0410303		
OBO:HP_0410304	Complete or near-complete absence of specific antibody response to meningococcus vaccine	biolink:OntologyClass	hp		The inability to synthesize postvaccination antibodies against a meningococcus antigen, as measured by antibody titer determination following vaccination.	http://purl.obolibrary.org/obo/HP_0410304		
OBO:HP_0410305	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine	biolink:OntologyClass	hp		A reduced ability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination.	http://purl.obolibrary.org/obo/HP_0410305		
OBO:HP_0410306	Partial absence of specific antibody response to meningococcus vaccine	biolink:OntologyClass	hp		A reduced ability to synthesize postvaccination antibodies against a meningococcus antigen, as measured by antibody titer determination following vaccination.	http://purl.obolibrary.org/obo/HP_0410306		
OBO:HP_0410307	Positive stool methadone test	biolink:OntologyClass	hp		Detection of methadone and its metabolites in the stool.	http://purl.obolibrary.org/obo/HP_0410307		
OBO:HP_0410308	Decreased specific antibody response to infection	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0410308		
OBO:HP_0410309	Alpha-aminoadipic aciduria	biolink:OntologyClass	hp		A increased concentration of alpha-aminoadipic acid in the urine.	http://purl.obolibrary.org/obo/HP_0410309		2-aminoadipic aciduria
OBO:HP_0410310	Abnormality of neutrophil morphology in CSF	biolink:OntologyClass	hp		An abnormal form or size of neutrophils in the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0410310		Abnormality of neutrophil morphology in cerebrospinal fluid
OBO:HP_0410311	Hyposegmentation of neutrophil nuclei in CSF	biolink:OntologyClass	hp		Hyposegmented (hypolobulated) or bilobed neutrophil nuclei in the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0410311		Hyposegmentation of neutrophil nuclei in cerebrospinal fluid
OBO:HP_0410312	Hypersegmentation of neutrophil nuclei in CSF	biolink:OntologyClass	hp		An excessive division of the lobes of the nucleus of a neutrophil in the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0410312		Hypersegmentation of neutrophil nuclei in cerebrospinal fluid
OBO:HP_0410313	Abnormal urinary 1-methylhistidine concentration	biolink:OntologyClass	hp		Abnormal concentration of 1-methylhistidine in the urine.	http://purl.obolibrary.org/obo/HP_0410313		
OBO:HP_0410314	Decreased urinary 1-methylhistidine	biolink:OntologyClass	hp		Decreased concentration of 1-methylhistidine in the urine.	http://purl.obolibrary.org/obo/HP_0410314		
OBO:HP_0410315	Increased urinary 1-methylhistidine	biolink:OntologyClass	hp		Increased concentration of 1-methylhistidine in the urine.	http://purl.obolibrary.org/obo/HP_0410315		1-Methylhistidinuria
OBO:HP_0410316	Abnormal urinary 3-methylhistidine level	biolink:OntologyClass	hp		Abnormal amount of 3-methylhistidine in the urine.	http://purl.obolibrary.org/obo/HP_0410316		
OBO:HP_0410317	Increased urinary 3-methylhistidine	biolink:OntologyClass	hp		Increased concentration of 3-methylhistidine in the urine.	http://purl.obolibrary.org/obo/HP_0410317		3-Methylhistidinuria
OBO:HP_0410318	Decreased urinary 3-methylhistidine	biolink:OntologyClass	hp		Decreased concentration of 3-methylhistidine in the urine.	http://purl.obolibrary.org/obo/HP_0410318		
OBO:HP_0410319	Alpha-gal allergy	biolink:OntologyClass	hp		Hypersensitivity in form of an adverse immune reaction against alpha-gal.	http://purl.obolibrary.org/obo/HP_0410319		Alpha-gal allergy|Allergy to alpha-gal|IgE-mediated alpha-gal allergy|Immunoglobulin E-mediated alpha-gal allergy
OBO:HP_0410320	Animal protein allergy	biolink:OntologyClass	hp		Hypersensitivity in form of an adverse immune reaction against animal proteins.	http://purl.obolibrary.org/obo/HP_0410320		Animal protein allergy|Allergy to animal proteins|IgE-mediated animal protein allergy|Immunoglobulin E-mediated animal protein allergy
OBO:HP_0410321	Animal dander allergy	biolink:OntologyClass	hp		Hypersensitivity in form of an adverse immune reaction against animal dander.	http://purl.obolibrary.org/obo/HP_0410321		Animal dander allergy|Allergy to animal dander|IgE-mediated animal dander allergy|Immunoglobulin E-mediated animal dander allergy
OBO:HP_0410322	Bacteria allergy	biolink:OntologyClass	hp		Hypersensitivity in form of an adverse immune reaction against bacteria.	http://purl.obolibrary.org/obo/HP_0410322		Bacteria allergy|Allergy to bacteria|IgE-mediated bacteria allergy|Immunoglobulin E-mediated bacteria allergy
OBO:HP_0410323	Drug allergy	biolink:OntologyClass	hp		Hypersensitivity in form of an adverse immune reaction against drugs.	http://purl.obolibrary.org/obo/HP_0410323		Drug allergy|Allergy to drugs|IgE-mediated drug allergy|Immunoglobulin E-mediated drug allergy
OBO:HP_0410324	Dust mite allergy	biolink:OntologyClass	hp		Hypersensitivity in form of an adverse immune reaction against dust mites.	http://purl.obolibrary.org/obo/HP_0410324		Dust mite allergy|Allergy to dust mites|IgE-mediated dust mite allergy|Immunoglobulin E-mediated dust mite allergy
OBO:HP_0410325	House dust mite allergy	biolink:OntologyClass	hp		Hypersensitivity in form of an adverse immune reaction against house dust mites.	http://purl.obolibrary.org/obo/HP_0410325		House dust mite allergy|Allergy to house dust mites|IgE-mediated house dust mite allergy|Immunoglobulin E-mediated house dust mite allergy
OBO:HP_0410326	Feather allergy	biolink:OntologyClass	hp		Hypersensitivity in form of an adverse immune reaction against feathers.	http://purl.obolibrary.org/obo/HP_0410326		Feather allergy|Allergy to feathers|IgE-mediated feather allergy|Immunoglobulin E-mediated feather allergy
OBO:HP_0410327	Dairy allergy	biolink:OntologyClass	hp		Hypersensitivity in form of an adverse immune reaction against dairy.	http://purl.obolibrary.org/obo/HP_0410327		Dairy allergy|Allergy to dairy|IgE-mediated dairy allergy|Immunoglobulin E-mediated dairy allergy
OBO:HP_0410328	Egg allergy	biolink:OntologyClass	hp		Hypersensitivity in form of an adverse immune reaction against eggs.	http://purl.obolibrary.org/obo/HP_0410328		Egg allergy|Allergy to eggs|IgE-mediated egg allergy|Immunoglobulin E-mediated egg allergy
OBO:HP_0410329	Gluten allergy	biolink:OntologyClass	hp		Hypersensitivity in form of an adverse immune reaction against gluten.	http://purl.obolibrary.org/obo/HP_0410329		Gluten allergy|Allergy to gluten|IgE-mediated gluten allergy|Immunoglobulin E-mediated gluten allergy
OBO:HP_0410330	Meat allergen allergy	biolink:OntologyClass	hp		Hypersensitivity in form of an adverse immune reaction against allergens contained in meat products.	http://purl.obolibrary.org/obo/HP_0410330		Meat allergen allergy|Meat allergy|Allergy to meat allergens|IgE-mediated meat allergen allergy|Immunoglobulin E-mediated meat allergen allergy
OBO:HP_0410331	Nut food product allergy	biolink:OntologyClass	hp		Hypersensitivity in form of an adverse immune reaction against nut food products.	http://purl.obolibrary.org/obo/HP_0410331		Nut allergy|Nut food product allergy|Allergy to nut food products|IgE-mediated nut food product allergy|Immunoglobulin E-mediated nut food product allergy
OBO:HP_0410332	Plant based food allergy	biolink:OntologyClass	hp		Hypersensitivity in form of an adverse immune reaction against plant based food allergens.	http://purl.obolibrary.org/obo/HP_0410332		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
OBO:HP_0410333	Seafood allergy	biolink:OntologyClass	hp		Hypersensitivity in form of an adverse immune reaction against seafood.	http://purl.obolibrary.org/obo/HP_0410333		Seafood allergy|Allergy to seafood|IgE-mediated seafood allergy|Immunoglobulin E-mediated seafood allergy
OBO:HP_0410334	Fungi allergy	biolink:OntologyClass	hp		Hypersensitivity in form of an adverse immune reaction against fungus.	http://purl.obolibrary.org/obo/HP_0410334		Fungal allergy|Fungi allergy|Fungus allergy|Allergy to fungi|IgE-mediated fungi allergy|Immunoglobulin E-mediated fungi allergy
OBO:HP_0410335	Insect allergy	biolink:OntologyClass	hp		Hypersensitivity in form of an adverse immune reaction against insects.	http://purl.obolibrary.org/obo/HP_0410335		Insect allergy|Allergy to insects|IgE-mediated insect allergy|Immunoglobulin E-mediated insect allergy
OBO:HP_0410336	Venom allergy	biolink:OntologyClass	hp		Hypersensitivity in form of an adverse immune reaction against insect venom.	http://purl.obolibrary.org/obo/HP_0410336		Venom allergy|Allergy to venom|IgE-mediated venom allergy|Immunoglobulin E-mediated venom allergy
OBO:HP_0410337	Parasite allergy	biolink:OntologyClass	hp		Hypersensitivity in form of an adverse immune reaction against parasites.	http://purl.obolibrary.org/obo/HP_0410337		Parasite allergy|Allergy to parasites|IgE-mediated parasite allergy|Immunoglobulin E-mediated parasite allergy
OBO:HP_0410338	Plant product allergy	biolink:OntologyClass	hp		Hypersensitivity in form of an adverse immune reaction against plant products.	http://purl.obolibrary.org/obo/HP_0410338		Plant product allergy|Allergy to plant products|IgE-mediated plant product allergy|Immunoglobulin E-mediated plant product allergy
OBO:HP_0410339	Insect bite allergy	biolink:OntologyClass	hp		Hypersensitivity in form of an adverse immune reaction against insect bites.	http://purl.obolibrary.org/obo/HP_0410339		Insect bite allergy|Allergy to insect bites|IgE-mediated insect bite allergy|Immunoglobulin E-mediated insect bite allergy
OBO:HP_0410340	Focal epithelial hyperplasia of oral mucosa	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0410340		Focal epithelial hyperplasia of the lining of mouth|Oral mucosa epithelial hyperplasia
OBO:HP_0410341	Abnormal circulating heparan sulfate level	biolink:OntologyClass	hp		An abnormal level of heparan sulfate in the blood.	http://purl.obolibrary.org/obo/HP_0410341		Abnormal circulating heparan sulphate level|Abnormality of the concentration of heparan sulfate in the blood
OBO:HP_0410342	Increased circulating heparan sulfate level	biolink:OntologyClass	hp		An abnormal increase in the concentration of heparan sulfate in the blood.	http://purl.obolibrary.org/obo/HP_0410342		Increased circulating heparan sulphate level|Increased blood heparan sulfate concentration
OBO:HP_0410343	Decreased circulating heparan sulfate level	biolink:OntologyClass	hp		An abnormal decrease in the concentration of heparan sulfate in the blood.	http://purl.obolibrary.org/obo/HP_0410343		Decreased circulating heparan sulphate level|Decreased blood heparan sulfate concentration
OBO:HP_0410344	Shortened O-fucosylated glycan on properdin	biolink:OntologyClass	hp		Decreased length of O-fucosylated glycans present on properdin.	http://purl.obolibrary.org/obo/HP_0410344		Presence of terminal O-fucose glycans on properdin
OBO:HP_0410345	Increased urinary polyhexose	biolink:OntologyClass	hp		An abnormal increase in the concentration of polyhexose in the urine.	http://purl.obolibrary.org/obo/HP_0410345		Increased polyhexose concentration in urine
OBO:HP_0410346	Increased urinary galactosylated oligosaccharide	biolink:OntologyClass	hp		An abnormal increase in the concentration of galactosylated oligosaccharides in urine.	http://purl.obolibrary.org/obo/HP_0410346		Increased concentration of galactosylated oligosaccharides in urine
OBO:HP_0410347	Increased urinary high-mannose-type oligosaccharide	biolink:OntologyClass	hp		An abnormal increase in the concentration of high-mannose-type oligosaccharides in the urine.	http://purl.obolibrary.org/obo/HP_0410347		Increased concentration of high-mannose-type oligosaccharides in urine
OBO:HP_0410348	Increased urinary multiantennary sialylated oligosaccharide	biolink:OntologyClass	hp		An abnormal increase in the concentration of multiantennary sialylated oligosaccharides in the urine.	http://purl.obolibrary.org/obo/HP_0410348		Increase concentration of multiantennary sialylated oligosaccharides in urine
OBO:HP_0410349	Decreased glycosyltransferase O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase level	biolink:OntologyClass	hp		An abnormal decrease in glycosyltransferase O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase enzymatic level.	http://purl.obolibrary.org/obo/HP_0410349		
OBO:HP_0410350	Increased urinary fucosylated oligosaccharide	biolink:OntologyClass	hp		An abnormal increase in the concentrationl of small fucosylated oligosaccharides in the urine.	http://purl.obolibrary.org/obo/HP_0410350		Increased concentration of fucosylated oligosaccharides in urine
OBO:HP_0410351	Abnormal complex N-glycan level	biolink:OntologyClass	hp		An abnormal concentration of complex N-glycans on glycoproteins.	http://purl.obolibrary.org/obo/HP_0410351		Abnormal concentration of complex N-glycans on glycoproteins
OBO:HP_0410352	Increased complex N-glycan level	biolink:OntologyClass	hp		An abnormal increase in the concentration of complex N-glycans on glycoproteins.	http://purl.obolibrary.org/obo/HP_0410352		Increased concentration of complex N-glycans on glycoproteins
OBO:HP_0410353	Decreased complex N-glycan level	biolink:OntologyClass	hp		An abnormal decrease in the concentration of complex N-glycans on glycoproteins.	http://purl.obolibrary.org/obo/HP_0410353		Increased truncated complex N-glycans on glycoproteins
OBO:HP_0410354	Increased sialylated N-glycan level	biolink:OntologyClass	hp		An abnormal increase in the concentration of sialylated N-glycans on glycoproteins.	http://purl.obolibrary.org/obo/HP_0410354		Increased concentration of sialylated N-glycans on glycoproteins
OBO:HP_0410355	Decreased sialylated N-glycan level	biolink:OntologyClass	hp		An abnormal decrease in the concentration of sialylated N-glycans on glycoproteins.	http://purl.obolibrary.org/obo/HP_0410355		Decreased concentration of sialylated N-glycans on glycoproteins
OBO:HP_0410356	Abnormal high-mannose N-glycan level	biolink:OntologyClass	hp		An abnormal concentration of high-mannose N-glycans on glycoproteins.	http://purl.obolibrary.org/obo/HP_0410356		Abnormal high-mannose N-glycans on glycoprotein concentration
OBO:HP_0410357	Increased high-mannose N-glycan level	biolink:OntologyClass	hp		An abnormal increase in the concentration of high-mannose N-glycans on glycoproteins.	http://purl.obolibrary.org/obo/HP_0410357		Increased high-mannose N-glycans on glycoprotein concentration
OBO:HP_0410358	Decreased high-mannose N-glycan level	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0410358		An abnormal decrease in the concentration of high-mannose N-glycans on glycoproteins.|Decreased high-mannose N-glycans on glycoprotein concentration
OBO:HP_0410359	Abnormal core 1 O-glycan level	biolink:OntologyClass	hp		An abnormal in the concentration of core 1 O-glycans on glycoproteins.	http://purl.obolibrary.org/obo/HP_0410359		Abnormal concentration of T-antigen
OBO:HP_0410360	Increased core 1 O-glycan level	biolink:OntologyClass	hp		An abnormal increase in the concentration of core 1 O-glycans on glycoproteins.	http://purl.obolibrary.org/obo/HP_0410360		Increased T-antigen concentration
OBO:HP_0410361	Decreased core 1 O-glycan level	biolink:OntologyClass	hp		An abnormal decrease in the concentration of core 1 O-glycans on glycoproteins.	http://purl.obolibrary.org/obo/HP_0410361		Decreased T-antigen concentration
OBO:HP_0410362	Decreased O-mannosyl glycans on alpha-dystroglycan	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0410362		Reduced O-mannosyl glycans on alpha-dystroglycan
OBO:HP_0410363	Increased monosialylated core 1 O-glycan level	biolink:OntologyClass	hp		An abnormal increase in the concentration of monosialylated core 1 O-glycans on glycoproteins.	http://purl.obolibrary.org/obo/HP_0410363		Increased sialyl T-antigen concentration
OBO:HP_0410364	Decreased monosialylated core 1 O-glycan level	biolink:OntologyClass	hp		An abnormal decrease in the concentration of monosialylated core 1 O-glycans on glycoproteins.	http://purl.obolibrary.org/obo/HP_0410364		Decreased sialyl T-antigen concentration
OBO:HP_0410365	Increased disialylated core 1 O-glycan level	biolink:OntologyClass	hp		An abnormal increase in the concentration of disialylated core 1 O-glycans on glycoproteins.	http://purl.obolibrary.org/obo/HP_0410365		Increased disialyl T-antigen concentration
OBO:HP_0410366	Increased globoside Gb4 level	biolink:OntologyClass	hp		An abnormal increase in the concentration of globoside Gb4.	http://purl.obolibrary.org/obo/HP_0410366		Increased globoside Gb4 concentration
OBO:HP_0410367	Increased hepatitis A virus antibody level	biolink:OntologyClass	hp		An abnormally increased level of immunoglobulin against hepatitis A virus in the blood.	http://purl.obolibrary.org/obo/HP_0410367		
OBO:HP_0410368	Increased globoside Gb3 level	biolink:OntologyClass	hp		An abnormal increase in the concentration of glycolipid globoside Gb3.	http://purl.obolibrary.org/obo/HP_0410368		Increased globoside Gb3 concentration
OBO:HP_0410369	Increased hepatitis B virus antibody level	biolink:OntologyClass	hp		An abnormally increased level of immunoglobulin against hepatitis B virus in the blood.	http://purl.obolibrary.org/obo/HP_0410369		
OBO:HP_0410370	Absence of ganglioside GM3	biolink:OntologyClass	hp		The absence of ganglioside GM3.	http://purl.obolibrary.org/obo/HP_0410370		
OBO:HP_0410371	Increased hepatitis C virus antibody level	biolink:OntologyClass	hp		An abnormally increased level of immunoglobulin against hepatitis C virus in the blood.	http://purl.obolibrary.org/obo/HP_0410371		
OBO:HP_0410372	Increased Tn-antigen level	biolink:OntologyClass	hp		An abnormal increase in the concentration of Tn antigen on glycoproteins.	http://purl.obolibrary.org/obo/HP_0410372		Increased O-GalNac on glycoprotein concentration
OBO:HP_0410373	Abnormal proportion of naive CD4 T cells	biolink:OntologyClass	hp		Any abnormality in the proportion of naive CD4 T cells relative to the total number of T cells.	http://purl.obolibrary.org/obo/HP_0410373		Abnormal proportion of CD4+CD45RA+ cells|Abnormal proportion of naive thymus-derived CD4-positive, alpha-beta T cells
OBO:HP_0410374	Abnormal proportion of naive CD8 T cells	biolink:OntologyClass	hp		Any abnormality in the proportion of naive CD8 T cells relative to the total number of T cells.	http://purl.obolibrary.org/obo/HP_0410374		
OBO:HP_0410375	Increased proportion of naive CD4 T cells	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0410375		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
OBO:HP_0410376	Increased proportion of naive CD8 T cells	biolink:OntologyClass	hp		An abnormally increased proportion of naive CD8 T cells relative to the total number of T cells.	http://purl.obolibrary.org/obo/HP_0410376		Elevated proportion of naive CD8 T cells|Elevated proportion of naive thymus-derived CD8-positive, alpha-beta T cells
OBO:HP_0410377	Decreased proportion of naive CD8 T cells	biolink:OntologyClass	hp		An abnormally reduced proportion of naive CD8 T cells relative to the total number of T cells.	http://purl.obolibrary.org/obo/HP_0410377		Reduced proportion of naive CD8 T cells|Reduced proportion of naive thymus-derived CD8-positive, alpha-beta T cells
OBO:HP_0410378	Decreased proportion of naive CD4 T cells	biolink:OntologyClass	hp		An abnormally reduced proportion of naive CD4 T cells relative to the total number of T cells.	http://purl.obolibrary.org/obo/HP_0410378		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
OBO:HP_0410379	Abnormal proportion of CD4-positive, alpha-beta memory T cells	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0410379		
OBO:HP_0410380	Abnormal proportion of CD8-positive, alpha-beta memory T cells	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0410380		
OBO:HP_0410381	Abnormal proportion of central memory CD4-positive, alpha-beta T cells	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0410381		
OBO:HP_0410382	obsolete Abnormal proportion of effector memory CD4-positive, alpha-beta T cells	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0410382		
OBO:HP_0410383	Abnormal proportion of effector memory CD8-positive, alpha-beta T cells	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0410383		
OBO:HP_0410384	Abnormal proportion of central memory CD8-positive, alpha-beta T cells	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0410384		
OBO:HP_0410385	Decreased proportion of CD8-positive, alpha-beta memory T cells	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0410385		
OBO:HP_0410386	Decreased proportion of CD4-positive, alpha-beta memory T cells	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0410386		
OBO:HP_0410387	obsolete Decreased proportion of effector memory CD4-positive, alpha-beta T cells	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0410387		
OBO:HP_0410388	Decreased proportion of central memory CD4-positive, alpha-beta T cells	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0410388		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
OBO:HP_0410389	Decreased proportion of central memory CD8-positive, alpha-beta T cells	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0410389		
OBO:HP_0410390	Decreased proportion of effector memory CD8-positive, alpha-beta T cells	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0410390		
OBO:HP_0410391	Increased proportion of CD4-positive, alpha-beta memory T cells	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0410391		
OBO:HP_0410392	Increased proportion of CD8-positive, alpha-beta memory T cells	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0410392		
OBO:HP_0410393	Increased proportion of central memory CD4-positive, alpha-beta T cells	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0410393		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
OBO:HP_0410394	Increased proportion of effector memory CD4-positive, alpha-beta T cells	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0410394		
OBO:HP_0410395	Increased proportion of effector memory CD8-positive, alpha-beta T cells	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0410395		
OBO:HP_0410396	Increased proportion of central memory CD8-positive, alpha-beta T cells	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0410396		
OBO:HP_0410397	Bronchiolectasis	biolink:OntologyClass	hp		Saccular dilatation of the terminal bronchioles.	http://purl.obolibrary.org/obo/HP_0410397		Bronchiolectasia
OBO:HP_0410399	Positive blood lead test	biolink:OntologyClass	hp		Detection of lead in the blood.	http://purl.obolibrary.org/obo/HP_0410399		Increased blood lead level
OBO:HP_0410400	Absent sebaceous glands	biolink:OntologyClass	hp		Absence of the sebaceous gland, the holocrine gland that secretes sebum into the hair follicles, or in hairless areas into ducts.	http://purl.obolibrary.org/obo/HP_0410400		Absence of sebaceous glands
OBO:HP_0410401	Worse in evening	biolink:OntologyClass	hp		Applies to a sign or symptom that is exacerbated in the evening as compared to the day.	http://purl.obolibrary.org/obo/HP_0410401		
OBO:HP_0430000	Abnormality of the frontal bone	biolink:OntologyClass	hp	UMLS:C4021873	An abnormality of the frontal bone.	http://purl.obolibrary.org/obo/HP_0430000		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
OBO:HP_0430002	Abnormality of the lacrimal bone	biolink:OntologyClass	hp	UMLS:C4021872	An abnormality of the lacrimal bone.	http://purl.obolibrary.org/obo/HP_0430002		Anomaly of the lacrimal bone|Deformity of the lacrimal bone|Malformation of the lacrimal bone
OBO:HP_0430003	Abnormality of the palatine bone	biolink:OntologyClass	hp	UMLS:C4021871	An abnormality of the palatine bone.	http://purl.obolibrary.org/obo/HP_0430003		Anomaly of the palatine bone|Deformity of the palatine bone|Malformation of the palatine bone
OBO:HP_0430004	Frontomalar faciosynostosis	biolink:OntologyClass	hp	UMLS:C4021870		http://purl.obolibrary.org/obo/HP_0430004		
OBO:HP_0430005	Abnormality of ethmoid bone	biolink:OntologyClass	hp	UMLS:C4021869	An abnormality of the ethmoid bone	http://purl.obolibrary.org/obo/HP_0430005		Anomaly of the ethmoid bone|Deformity of the ethmoid bone|Malformation of the ethmoid bone
OBO:HP_0430006	Ectopic cilia of eyelid	biolink:OntologyClass	hp	SNOMEDCT_US:95504004|UMLS:C0521574	An eyelash that emerges from the underside (conjunctiva) of the upper or lower eyelid.	http://purl.obolibrary.org/obo/HP_0430006		
OBO:HP_0430007	Symblepharon	biolink:OntologyClass	hp	SNOMEDCT_US:90216006|UMLS:C0152454	A partial or complete adhesion of the palpebral conjunctiva of the eyelid to the bulbar conjunctiva of the eyeball.	http://purl.obolibrary.org/obo/HP_0430007		Eyelid stuck to eyeball|Eyelid adhesion to globe of eye
OBO:HP_0430008	Accessory eyelid	biolink:OntologyClass	hp	SNOMEDCT_US:24606006|UMLS:C0266576|UMLS:C4280275	The presence of more than the normal number of eyelids.	http://purl.obolibrary.org/obo/HP_0430008		Extra eyelid|Double eyelid
OBO:HP_0430009	Hypoplasia of eyelid	biolink:OntologyClass	hp	SNOMEDCT_US:204203001|UMLS:C0344499|UMLS:C4280274	Developmental hypoplasia of the eyelid.	http://purl.obolibrary.org/obo/HP_0430009		Small eyelid|Decreased size of eyelid|Underdevelopment of eyelid|Short eyelid
OBO:HP_0430010	Microblepharia	biolink:OntologyClass	hp	SNOMEDCT_US:94684003|UMLS:C0685873	Abnormal shortness of the vertical dimensions of the eyelids.	http://purl.obolibrary.org/obo/HP_0430010		Abnormally small eyelid
OBO:HP_0430011	Defect of palpebral conjunctiva	biolink:OntologyClass	hp	UMLS:C4021868	An abnormality of the palpebral conjunctiva.	http://purl.obolibrary.org/obo/HP_0430011		
OBO:HP_0430012	Incomplete ossification of palatine bone	biolink:OntologyClass	hp	SNOMEDCT_US:93595006|UMLS:C0685213	Failure to complete ossification (maturation and calcification) of the palatine bone.	http://purl.obolibrary.org/obo/HP_0430012		Incomplete calcification of palatine bone|Incomplete mineralization of palatine bone|Incomplete formation of palatine bone
OBO:HP_0430013	Absent palatine bone ossification	biolink:OntologyClass	hp	UMLS:C4021867	Lack of formation of the palatine bone.	http://purl.obolibrary.org/obo/HP_0430013		Absence of palatine bone calcification|Absence of palatine bone mineralization|Absence of palatine bone formation
OBO:HP_0430014	Abnormality of musculature of soft palate	biolink:OntologyClass	hp	UMLS:C4073196	An abnormality of one or more of the five muscles of the soft palate.	http://purl.obolibrary.org/obo/HP_0430014		Abnormality of soft palate muscles
OBO:HP_0430015	Abnormal morphology of musculature of pharynx	biolink:OntologyClass	hp	UMLS:C4073197	An abnormality of any of the muscles of the pharynx.	http://purl.obolibrary.org/obo/HP_0430015		Abnormality of muscles of the pharynx|Abnormality of musculature of pharynx|Abnormality of pharyngeal musculature|Abnormality of pharynx musculature
OBO:HP_0430016	Abnormality of tensor veli palatini muscle	biolink:OntologyClass	hp	UMLS:C4073198	An abnormality of the tensor veli palatini muscle	http://purl.obolibrary.org/obo/HP_0430016		
OBO:HP_0430017	Abnormality of uvular muscle	biolink:OntologyClass	hp	UMLS:C4073199	An abnormality of the uvular muscle	http://purl.obolibrary.org/obo/HP_0430017		Abnormality of musculus uvulae
OBO:HP_0430018	Abnormality of nasal musculature	biolink:OntologyClass	hp	UMLS:C4073200	An abnormality of the muscles of the structure of the nose.	http://purl.obolibrary.org/obo/HP_0430018		Abnormality of muscle of nose|Abnormality of musculature of the nose|Abnormality of nasal musculature
OBO:HP_0430019	Abnormality of muscle of facial expression	biolink:OntologyClass	hp	UMLS:C4073201	An abnormality of any of the muscles of facial expression, which are innervated by the seventh (VII) cranial nerve and control facial expression.	http://purl.obolibrary.org/obo/HP_0430019		Abnormality of muscle of facial expression|Abnormality of musculature of facial expression
OBO:HP_0430020	Abnormality of levator labii superioris alaeque nasi muscle	biolink:OntologyClass	hp	UMLS:C4073202	An abnormality of the levator labii superioris alaeque nasi muscle.	http://purl.obolibrary.org/obo/HP_0430020		
OBO:HP_0430021	Abnormal common carotid artery morphology	biolink:OntologyClass	hp	UMLS:C4073203	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.	http://purl.obolibrary.org/obo/HP_0430021		Abnormality of the common carotid artery
OBO:HP_0430022	Abnormality of the sphenoid sinus	biolink:OntologyClass	hp	UMLS:C4073204	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.	http://purl.obolibrary.org/obo/HP_0430022		Abnormality of the sphenoidal sinus
OBO:HP_0430023	Abnormality of the maxillary sinus	biolink:OntologyClass	hp	UMLS:C4073205	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.	http://purl.obolibrary.org/obo/HP_0430023		Abnormality of the upper jaw sinus|Abnormality of the antrum of Highmore|Abnormality of the maxillary antrum
OBO:HP_0430024	Abnormality of external jugular vein	biolink:OntologyClass	hp	UMLS:C4073206	An abnormality of an external jugular vein of the neck.	http://purl.obolibrary.org/obo/HP_0430024		
OBO:HP_0430025	Bilateral facial palsy	biolink:OntologyClass	hp	UMLS:C4073207	Two-sided or bilateral weakness of the muscles of facial expression and eye closure.	http://purl.obolibrary.org/obo/HP_0430025		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
OBO:HP_0430026	Abnormality of the shape of the midface	biolink:OntologyClass	hp	UMLS:C4073208	An abnormal morphology (form) of the midface or its components, the cheeks, maxilla, zygomatic bone, malar region, and infraorbital rims.	http://purl.obolibrary.org/obo/HP_0430026		Abnormality of the shape of the midface|Abnormal morphology of the midface|Dysmorphic midface
OBO:HP_0430028	Hyperplasia of the maxilla	biolink:OntologyClass	hp	SNOMEDCT_US:28070007|UMLS:C0266081|UMLS:C2227090|UMLS:C4073209|UMLS:C4280272|UMLS:C4280273	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.	http://purl.obolibrary.org/obo/HP_0430028		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
OBO:HP_0430029	Hyperplasia of the premaxilla	biolink:OntologyClass	hp	UMLS:C4073210	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.	http://purl.obolibrary.org/obo/HP_0430029		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
OBO:HP_0500001	Body odor	biolink:OntologyClass	hp		A perceived unpleasant smell given off by the body.	http://purl.obolibrary.org/obo/HP_0500001		BO|Body odor|Body odour|Bromhidrosis|Bromidrosis|Osmidrosis
OBO:HP_0500005	Anal pain	biolink:OntologyClass	hp		Pain in and around the anus or rectum (perianal region).	http://purl.obolibrary.org/obo/HP_0500005		Anal pain|Rectal pain
OBO:HP_0500006	Urethritis	biolink:OntologyClass	hp		Inflammation of the urethra.	http://purl.obolibrary.org/obo/HP_0500006		
OBO:HP_0500007	Iris flocculi	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0500007		
OBO:HP_0500008	Cornea verticillata	biolink:OntologyClass	hp		Golden brown or gray deposits with a clockwise, whorl-like distribution in the inferior interpalpebal portion of the cornea.	http://purl.obolibrary.org/obo/HP_0500008		Vortex keratopathy
OBO:HP_0500009	Dysplastic gangliocytoma of the cerebellum	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0500009		LDD|Lhermitte-Duclos disease
OBO:HP_0500010	obsolete Increased cholesterol esters	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0500010		
OBO:HP_0500011	Moon facies	biolink:OntologyClass	hp		A rounded, puffy face with fat deposits in the temporal fossa and cheeks, a double chin.	http://purl.obolibrary.org/obo/HP_0500011		Moon face|Puffy face|Puffy facies
OBO:HP_0500012	Abnormality of gonadotropin-releasing hormone level	biolink:OntologyClass	hp		A deviation from the normal circulating concentration of the normal gonadotropin-releasing hormone level secreted from the pituitary gland.	http://purl.obolibrary.org/obo/HP_0500012		Abnormality of GnRH level
OBO:HP_0500013	Lack of gonadotropin-releasing hormone pulsatility	biolink:OntologyClass	hp		Secretion of gonadotropin-releasing hormone that does not occur in a pulsatile fashion.	http://purl.obolibrary.org/obo/HP_0500013		Absence of GnRH pulsatility
OBO:HP_0500014	obsolete Abnormal test result	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0500014		
OBO:HP_0500015	Abnormal cardiac test	biolink:OntologyClass	hp		Abnormal test result of cardiovascular physiology.	http://purl.obolibrary.org/obo/HP_0500015		
OBO:HP_0500016	Abnormal cardiac MRI	biolink:OntologyClass	hp		Abnormal results of a MRI for the heart.	http://purl.obolibrary.org/obo/HP_0500016		Abnormal cardiac magnetic resonance imaging|Abnormal heart MRI
OBO:HP_0500017	Abnormal cardiac catheterization	biolink:OntologyClass	hp		Abnormal results from the diagnostic tests resulting from cardiac catheterization.	http://purl.obolibrary.org/obo/HP_0500017		Abnormal cardiac cath
OBO:HP_0500018	Abnormal cardiac exercise stress test	biolink:OntologyClass	hp		Abnormal results of exercise on heart function.	http://purl.obolibrary.org/obo/HP_0500018		Abnormal exercise test|Abnormal treadmill test|Abnormal cardiac exercise test
OBO:HP_0500019	Abnormal resting energy expenditure from metabolic cart test	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0500019		Abnormal metabolic cart test
OBO:HP_0500020	Abnormal cardiac biomarker test	biolink:OntologyClass	hp		Abnormal blood test results measuring creatine kinase (CK), CK-MB, troponin (TROPI), myoglobin, and/or cardiac enzymes.	http://purl.obolibrary.org/obo/HP_0500020		
OBO:HP_0500021	Reduced brain gamma-aminobutyric acid level by MRS	biolink:OntologyClass	hp		An decreased level of gamma-aminobutyric acid in the brain identified by magnetic resonance spectroscopy (MRS).	http://purl.obolibrary.org/obo/HP_0500021		
OBO:HP_0500022	Abnormal serum dehydroepiandrosterone level	biolink:OntologyClass	hp		A deviation from the normal concentration of dehydroepiandrosterone in the circulation.	http://purl.obolibrary.org/obo/HP_0500022		Abnormal serum DHEA|Abnormal serum androstenolone level
OBO:HP_0500023	Shoulder muscle aplasia	biolink:OntologyClass	hp		Absence of shoulder muscles.	http://purl.obolibrary.org/obo/HP_0500023		Absent shoulder muscle
OBO:HP_0500024	Aplasia of the musculature of the pelvis	biolink:OntologyClass	hp		Absence of the musculature of the pelvis.	http://purl.obolibrary.org/obo/HP_0500024		
OBO:HP_0500026	Hypoplasia of the musculature of the pelvis	biolink:OntologyClass	hp		Underdevelopment of the musculature of the pelvis.	http://purl.obolibrary.org/obo/HP_0500026		
OBO:HP_0500027	Aplastic colon	biolink:OntologyClass	hp		Congenital absence of the colon	http://purl.obolibrary.org/obo/HP_0500027		Absence of the colon|Aplasia of the colon
OBO:HP_0500028	Cotton wool plaques	biolink:OntologyClass	hp		Deposition of large, diffuse cotton wool amyloid plaques (CWPs) lacking a dense core and associated neuritic changes.	http://purl.obolibrary.org/obo/HP_0500028		CWPs
OBO:HP_0500030	Abnormal hepatic glycogen storage	biolink:OntologyClass	hp		Change in normal glycogen storage content.	http://purl.obolibrary.org/obo/HP_0500030		
OBO:HP_0500031	Sclerosis of the carpal bones	biolink:OntologyClass	hp		An elevation in bone density in one or more carpal bones of the hand.	http://purl.obolibrary.org/obo/HP_0500031		
OBO:HP_0500032	Abnormal neuron branching	biolink:OntologyClass	hp		Abnormality of the structure and branching of the dendrites of a neuron.	http://purl.obolibrary.org/obo/HP_0500032		Aberrant neuronal branching|Abnormal neuronal branching
OBO:HP_0500033	Abnormal natural killer subset distribution	biolink:OntologyClass	hp		Any abnormality in the proportion natural killer subsets relative to the total number of natural killer cells.	http://purl.obolibrary.org/obo/HP_0500033		
OBO:HP_0500034	Nasolacrimal sac obstruction	biolink:OntologyClass	hp		Blockage of the nasolacrimal sac.	http://purl.obolibrary.org/obo/HP_0500034		
OBO:HP_0500035	Nasolacrimal sac granuloma	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0500035		
OBO:HP_0500036	Nasolacrimal sac papilloma	biolink:OntologyClass	hp		Benign tumor of the nasolacrimal sac.	http://purl.obolibrary.org/obo/HP_0500036		
OBO:HP_0500037	Nasolacrimal sac epithelial papillary carcinoma	biolink:OntologyClass	hp		The malignant epithelial neoplasm with papillary growths in the nasolacrimal sac.	http://purl.obolibrary.org/obo/HP_0500037		
OBO:HP_0500039	Conjunctival cicatrization	biolink:OntologyClass	hp		An abnormality of the conjuctiva and ocular surface caused by conjunctival inflammation and associated with scarring.	http://purl.obolibrary.org/obo/HP_0500039		Cicatricial conjunctivitis|Cicatrizating conjunctivitis|Conjunctival cicatricial conjunctivitis
OBO:HP_0500040	Dermolipoma of the conjunctiva	biolink:OntologyClass	hp		A benign tumor composed of adipose tissue and dense connective tissue usually located near the temporal fornix.	http://purl.obolibrary.org/obo/HP_0500040		Conjunctival lipodermoid
OBO:HP_0500041	Myopic astigmatism	biolink:OntologyClass	hp		A condition where one or both of the two principal meridians focus in the front of the retina when the eye is at rest.	http://purl.obolibrary.org/obo/HP_0500041		
OBO:HP_0500042	Latent hypermetropia	biolink:OntologyClass	hp		A term to describe when farsightedness is masked when the accommodative muscles are used to increase the focusing power of the eye.	http://purl.obolibrary.org/obo/HP_0500042		Latent hyperopia
OBO:HP_0500043	Eyelid retraction	biolink:OntologyClass	hp		With the eyes in primary position, the sclera is visible above the superior corneal limbus.	http://purl.obolibrary.org/obo/HP_0500043		
OBO:HP_0500044	Upper eyelid retraction	biolink:OntologyClass	hp		An elevation of the eyelid above the normal level in the primary position.	http://purl.obolibrary.org/obo/HP_0500044		
OBO:HP_0500045	Collier's sign	biolink:OntologyClass	hp		A unilateral or bilateral eyelid retraction due to midbrain lesions.	http://purl.obolibrary.org/obo/HP_0500045		
OBO:HP_0500046	Seborrhoeic blepharitis	biolink:OntologyClass	hp		Inflamation of the eyelid due to overactivity of the sebaceous gland.	http://purl.obolibrary.org/obo/HP_0500046		
OBO:HP_0500047	Nasolacrimal sac lymphoma	biolink:OntologyClass	hp		A type of lymphoma that involves the nasolacrimal sac.	http://purl.obolibrary.org/obo/HP_0500047		
OBO:HP_0500048	Delayed canalization of nasolacrimal duct	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0500048		
OBO:HP_0500049	Retinopathy of prematurity	biolink:OntologyClass	hp		An avascular or abnormally vascularized retina that occurs in premature infants and can lead to blindness.	http://purl.obolibrary.org/obo/HP_0500049		
OBO:HP_0500050	Retinopathy of prematurity stage 1	biolink:OntologyClass	hp		The retinal vessels stop and then a linear flat white line is present that usually runs the circumference of the vascular retina.	http://purl.obolibrary.org/obo/HP_0500050		ROP stage 1
OBO:HP_0500051	Retinopathy of prematurity stage 2	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0500051		ROP stage 2
OBO:HP_0500052	Retinopathy of prematurity stage 3	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0500052		ROP stage 3
OBO:HP_0500053	Retinopathy of prematurity stage 4	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0500053		ROP stage 4
OBO:HP_0500054	Retinopathy of prematurity stage 4a	biolink:OntologyClass	hp		A detachment that involves the peripheral retina that does not extend into the macula.	http://purl.obolibrary.org/obo/HP_0500054		ROP stage 4a
OBO:HP_0500055	Retinopathy of prematurity stage 4b	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0500055		ROP 4b
OBO:HP_0500056	Retinopathy of prematurity stage 5	biolink:OntologyClass	hp		Funnel detachment from the retina with generally traction in all four quadrants.	http://purl.obolibrary.org/obo/HP_0500056		ROP stage 5
OBO:HP_0500057	Retinopathy of prematurity stage 5a	biolink:OntologyClass	hp		An open funnel detachment of the retina with generally traction in all four quadrants.	http://purl.obolibrary.org/obo/HP_0500057		ROP stage 5a
OBO:HP_0500058	Retinopathy of prematurity stage 5b	biolink:OntologyClass	hp		A closed funnel detachment of the retina with generally traction in all four quadrants.	http://purl.obolibrary.org/obo/HP_0500058		ROP stage 5b
OBO:HP_0500059	Retinopathy of prematurity zone I	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0500059		ROP zone 1
OBO:HP_0500060	Retinopathy of prematurity zone II	biolink:OntologyClass	hp		Retinopathy which extends centrifugally from the edge of zone I to the nasal ora serrata.	http://purl.obolibrary.org/obo/HP_0500060		ROP zone II
OBO:HP_0500061	Retinopathy of prematurity zone III	biolink:OntologyClass	hp		Retinopathy which is a residual crescent of retina anterior to zone II.	http://purl.obolibrary.org/obo/HP_0500061		ROP zone III
OBO:HP_0500062	Retinopathy of prematurity plus	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0500062		ROP plus
OBO:HP_0500063	Retinopathy of prematurity pre-plus	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0500063		ROP pre-plus
OBO:HP_0500064	Retinopathy of prematurity threshold	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0500064		ROP threshold
OBO:HP_0500065	Retinopathy of prematurity prethreshold	biolink:OntologyClass	hp		High risk patients who were in Zone 1 (no Plus or stage 3) or Zone 2 with Plus or stage 3 but not both.	http://purl.obolibrary.org/obo/HP_0500065		ROP prethreshold
OBO:HP_0500066	Latent myopia	biolink:OntologyClass	hp		The difference between total and manifest myopia.	http://purl.obolibrary.org/obo/HP_0500066		
OBO:HP_0500069	Paralytic ectropion	biolink:OntologyClass	hp		A type of ectropion associated with orbicularis muscle weakness caused by cranial nerve VII palsy.	http://purl.obolibrary.org/obo/HP_0500069		
OBO:HP_0500070	Conjunctival dermolipoma	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0500070		
OBO:HP_0500072	Absolute eccentric fixation	biolink:OntologyClass	hp		Eccentric fixation in which the angle of eccentricity equals the objective angle of deviation.	http://purl.obolibrary.org/obo/HP_0500072		
OBO:HP_0500073	Abnormal ocular alignment	biolink:OntologyClass	hp		Any deviation from the normal ocular alignment.	http://purl.obolibrary.org/obo/HP_0500073		
OBO:HP_0500074	Dissociated vertical deviation	biolink:OntologyClass	hp		An incomitant tendency for an occluded eye to elevate and extort which resolves on uncovering.	http://purl.obolibrary.org/obo/HP_0500074		
OBO:HP_0500075	Dissociated horizontal deviation	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0500075		
OBO:HP_0500076	Alternating hypertropia	biolink:OntologyClass	hp		A type of vertical tropia in which, when one eye is fixing, the other eye is deviated upwards.	http://purl.obolibrary.org/obo/HP_0500076		
OBO:HP_0500077	Alternating hyperphoria	biolink:OntologyClass	hp		A type of vertical phoria in which, in dissociation, the occluded eye deviates upwards.	http://purl.obolibrary.org/obo/HP_0500077		
OBO:HP_0500078	Alternating hypotropia	biolink:OntologyClass	hp		A type of vertical tropia in which, when one eye is fixing, the other eye is deviated downwards.	http://purl.obolibrary.org/obo/HP_0500078		
OBO:HP_0500079	Alternating hypophoria	biolink:OntologyClass	hp		A type of vertical phoria in which, in dissociation, the occluded eye deviates downwards.	http://purl.obolibrary.org/obo/HP_0500079		
OBO:HP_0500081	Pseudophakia	biolink:OntologyClass	hp		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).	http://purl.obolibrary.org/obo/HP_0500081		
OBO:HP_0500086	Optic nerve gray crescent	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0500086		Optic nerve grey crescent|Temporal gray pigmentary crescent
OBO:HP_0500087	Peripapillary atrophy	biolink:OntologyClass	hp		Thinning in the layers of the retina and retinal pigment epithelium around the optic nerve.	http://purl.obolibrary.org/obo/HP_0500087		
OBO:HP_0500088	Foveal depigmentation	biolink:OntologyClass	hp		Loss of pigment in the fovea centralis.	http://purl.obolibrary.org/obo/HP_0500088		
OBO:HP_0500089	Optic nerve sheath meningioma	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0500089		
OBO:HP_0500090	Periocular capillary hemangioma	biolink:OntologyClass	hp		A capillary hemangioma surrounding the eyeball but within the orbit.	http://purl.obolibrary.org/obo/HP_0500090		Peri-ocular capillary hemangioma
OBO:HP_0500091	Lymphangioma of the orbit	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0500091		
OBO:HP_0500092	Orbital rhabdomyosarcoma	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0500092		
OBO:HP_0500093	Food allergy	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0500093		Food allergy|IgE-mediated food allergy|Immunoglobulin E-mediated food allergy
OBO:HP_0500094	Latex allergy	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0500094		
OBO:HP_0500095	Food-induced anaphylaxis	biolink:OntologyClass	hp		Food-induced anaphylaxis is a severe, potentially fatal, systemic allergic reaction that occurs suddenly after contact with an allergy-causing food.	http://purl.obolibrary.org/obo/HP_0500095		
OBO:HP_0500096	Venom-induced anaphylaxis	biolink:OntologyClass	hp		A form of anaphylaxis that is triggered by exposure to venom.	http://purl.obolibrary.org/obo/HP_0500096		
OBO:HP_0500097	Stool xenobiotic	biolink:OntologyClass	hp		Presence of xenobiotic in stool.	http://purl.obolibrary.org/obo/HP_0500097		
OBO:HP_0500098	Meconium xenobiotic	biolink:OntologyClass	hp		Presence of a xenobiotic in meconium.	http://purl.obolibrary.org/obo/HP_0500098		
OBO:HP_0500099	Hair xenobiotic	biolink:OntologyClass	hp		Presence of xenobiotic in hair.	http://purl.obolibrary.org/obo/HP_0500099		
OBO:HP_0500100	Plasma/serum xenobiotic	biolink:OntologyClass	hp		Presence of a xenobiotic in plasma and/or serum.	http://purl.obolibrary.org/obo/HP_0500100		
OBO:HP_0500101	Gastric fluid xenobiotic	biolink:OntologyClass	hp		Presence of a xenobiotic in gastric fluid.	http://purl.obolibrary.org/obo/HP_0500101		
OBO:HP_0500104	Decreased diastolic blood pressure	biolink:OntologyClass	hp		Abnormal decrease in diastolic blood pressure.	http://purl.obolibrary.org/obo/HP_0500104		Decreased diastolic BP|Reduced diastolic blood pressure.
OBO:HP_0500105	Decreased systolic blood pressure	biolink:OntologyClass	hp		Abnormal decrease in systolic blood pressure.	http://purl.obolibrary.org/obo/HP_0500105		Decreased systolic BP|Reduced systolic blood pressure
OBO:HP_0500106	Isolated systolic hypertension	biolink:OntologyClass	hp		Elevated systolic blood pressure without an elevated blood pressure.	http://purl.obolibrary.org/obo/HP_0500106		
OBO:HP_0500107	Isolated diastolic hypotension	biolink:OntologyClass	hp		A decrease in diastolic blood pressure (<60 mmHg) without a decrease in systolic blood pressure (> or = to 100 mmHg).	http://purl.obolibrary.org/obo/HP_0500107		
OBO:HP_0500108	Positive urine cocaine test	biolink:OntologyClass	hp		Detection of cocaine or its major metabolite, benzoylecgonine, in urine.	http://purl.obolibrary.org/obo/HP_0500108		
OBO:HP_0500109	Positive urine barbiturate test	biolink:OntologyClass	hp		Detection of barbiturate metabolites such as Phenobarbital in urine.	http://purl.obolibrary.org/obo/HP_0500109		
OBO:HP_0500110	Positive urine cannabinoid test	biolink:OntologyClass	hp		Detection of delta-9-tetrahydrocannabinol (THC) or other cannabinoid metabolites in urine.	http://purl.obolibrary.org/obo/HP_0500110		Positive urine marijuana test|Postive urine pot test
OBO:HP_0500111	Positive urine benzodiazepines test	biolink:OntologyClass	hp		Detection of benzodiazepine metabolites, primarily nordiazepam, oxazepam, and temazepam, in urine.	http://purl.obolibrary.org/obo/HP_0500111		
OBO:HP_0500112	Positive urine amphetamine test	biolink:OntologyClass	hp		Detection of amphetamine or its metabolites in urine.	http://purl.obolibrary.org/obo/HP_0500112		
OBO:HP_0500113	Positive urine opioid test	biolink:OntologyClass	hp		Detection of opioids or opioid metabolites in urine.	http://purl.obolibrary.org/obo/HP_0500113		
OBO:HP_0500114	Abnormal stool urobilinogen concentration	biolink:OntologyClass	hp		Abnormal concentration of urobilinogen present in the stool.	http://purl.obolibrary.org/obo/HP_0500114		
OBO:HP_0500115	Increased stool urobilinogen concentration	biolink:OntologyClass	hp		An increased amount of urobilinogen present in the stool.	http://purl.obolibrary.org/obo/HP_0500115		
OBO:HP_0500116	Positive blood barbiturate test	biolink:OntologyClass	hp		Detection of barbiturate metabolites such as Phenobarbital in blood.	http://purl.obolibrary.org/obo/HP_0500116		
OBO:HP_0500117	Abnormal CSF urate concentration	biolink:OntologyClass	hp		Abnormal concentration of urate in the cerebrospinal fluid (CSF).	http://purl.obolibrary.org/obo/HP_0500117		
OBO:HP_0500132	Hypovalinemia	biolink:OntologyClass	hp		A decreased amount of valine in the blood.	http://purl.obolibrary.org/obo/HP_0500132		Low blood valine concentration
OBO:HP_0500133	Hypotyrosinemia	biolink:OntologyClass	hp		An decreased concentration of tyrosine in the blood.	http://purl.obolibrary.org/obo/HP_0500133		Decreased tyrosine in blood|Low blood tyrosine concentration
OBO:HP_0500134	Hypertryptophanemia	biolink:OntologyClass	hp		An increased amount of tryptophan in the blood.	http://purl.obolibrary.org/obo/HP_0500134		High blood tryptophan concentration|Increased tryptophan in blood
OBO:HP_0500135	Hypotryptophanemia	biolink:OntologyClass	hp		A decreased amount of tryptophan in the blood.	http://purl.obolibrary.org/obo/HP_0500135		Decreased tryptophan in blood|Low blood tryptophan concentration
OBO:HP_0500136	Hypothreoninemia	biolink:OntologyClass	hp		A decreased amount of threonine in the blood.	http://purl.obolibrary.org/obo/HP_0500136		Decreased threonine blood levels|Low blood threonine concentration|Decreased circulating threonine levels
OBO:HP_0500138	Hyperserinemia	biolink:OntologyClass	hp		An increased amount of serine in the blood.	http://purl.obolibrary.org/obo/HP_0500138		High blood serine levels|Increased serine blood concentration|Elevated circulating serine levels
OBO:HP_0500139	Hypoprolinemia	biolink:OntologyClass	hp		A decreased amount of proline in the blood.	http://purl.obolibrary.org/obo/HP_0500139		Decreased blood proline levels|Low blood proline concentration
OBO:HP_0500140	Decreased circulating hydroxyproline concentration	biolink:OntologyClass	hp		A decreased amount of hydroxyproline in the blood.	http://purl.obolibrary.org/obo/HP_0500140		Decreased hydroxyproline in the blood|Low level of hydroxyproline in the blood
OBO:HP_0500141	Hypophenylalaninemia	biolink:OntologyClass	hp		A decreased amount of phenylalanine in the blood.	http://purl.obolibrary.org/obo/HP_0500141		Decreased blood phenylalanine|Low blood phenylalanine
OBO:HP_0500142	Hypolysinemia	biolink:OntologyClass	hp		A decreased amount of lysine in the blood.	http://purl.obolibrary.org/obo/HP_0500142		Decreased blood lysine|Low blood lysine levels
OBO:HP_0500143	Hypoleucinemia	biolink:OntologyClass	hp		Decreased amount of leucine in the blood.	http://purl.obolibrary.org/obo/HP_0500143		Decreased blood concentration of leucine|Low blood leucine levels
OBO:HP_0500144	Hypoisoleucinemia	biolink:OntologyClass	hp		A decreased amount of isoleucine in the blood.	http://purl.obolibrary.org/obo/HP_0500144		Decreased blood isoleucine concentration|Low blood isoleucine levels
OBO:HP_0500145	Hypohistidinemia	biolink:OntologyClass	hp		A decreased amount of histidine in the blood.	http://purl.obolibrary.org/obo/HP_0500145		Decreased blood histidine concentration|Low blood histidine levels
OBO:HP_0500147	Hypoglutaminemia	biolink:OntologyClass	hp		Decreased amount of glutamine in the blood.	http://purl.obolibrary.org/obo/HP_0500147		Decreased blood glutamine concentration|Low blood glutamine level
OBO:HP_0500148	Abnormal circulating glutamate concentration	biolink:OntologyClass	hp		Any deviation from the normal concentration of glutamate in the blood circulation.	http://purl.obolibrary.org/obo/HP_0500148		Abnormality of glutamate metabolism
OBO:HP_0500149	Hyperglutamatemia	biolink:OntologyClass	hp		An increased amount of glutamate in the blood.	http://purl.obolibrary.org/obo/HP_0500149		High blood glutamate levels|Increased blood glutamate concentration
OBO:HP_0500150	Hypoglutamatemia	biolink:OntologyClass	hp		A decreased amount of glutamate in the blood.	http://purl.obolibrary.org/obo/HP_0500150		Decreased blood glutamate concentrations|Low blood glutamate levels
OBO:HP_0500151	Hypercystinemia	biolink:OntologyClass	hp		An increased amount of cystine in the blood.	http://purl.obolibrary.org/obo/HP_0500151		High blood cystine levels|Increased blood cystine concentraions
OBO:HP_0500152	Hypocystinemia	biolink:OntologyClass	hp		A decreased amount of cystine in the blood.	http://purl.obolibrary.org/obo/HP_0500152		Decreased blood cystine concentration|Low blood cystine levels
OBO:HP_0500153	Hyperargininemia	biolink:OntologyClass	hp		An increased amount of arginine levels in the blood.	http://purl.obolibrary.org/obo/HP_0500153		High blood arginine levels|Increased blood arginine concentration
OBO:HP_0500154	Hypoalaninemia	biolink:OntologyClass	hp		A decreased amount of alanine in the blood.	http://purl.obolibrary.org/obo/HP_0500154		Decreased blood alanine concentration|Low blood alanine levels
OBO:HP_0500155	Abnormal circulating asparagine concentration	biolink:OntologyClass	hp		Any deviation from the normal concentration of asparagine in the blood circulation.	http://purl.obolibrary.org/obo/HP_0500155		Abnormality of asparagine metabolism
OBO:HP_0500156	Hyperasparaginemia	biolink:OntologyClass	hp		An increased amount of asparagine in the blood.	http://purl.obolibrary.org/obo/HP_0500156		High blood asaparagine levels|Increased blood asparagine concentration
OBO:HP_0500157	Hypoasparaginemia	biolink:OntologyClass	hp		A decreased amount of asparagine in the blood.	http://purl.obolibrary.org/obo/HP_0500157		Decreased blood asparagine concentration|Low blood asparagine levels
OBO:HP_0500158	Abnormal circulating aspartic acid concentration	biolink:OntologyClass	hp		Any deviation from the normal concentration of aspartate in the blood circulation.	http://purl.obolibrary.org/obo/HP_0500158		Abnormal circulating aspartate concentration
OBO:HP_0500159	Increased level of circulating aspartic acid	biolink:OntologyClass	hp		An increased amount of aspartic acid in the blood.	http://purl.obolibrary.org/obo/HP_0500159		High blood aspartic acid levels|Increased blood aspartic acid
OBO:HP_0500160	Abnormal circulating carnosine concentration	biolink:OntologyClass	hp		Any deviation from the normal concentration of carnosine in the blood circulation.	http://purl.obolibrary.org/obo/HP_0500160		Abnormality of carnosine metabolism
OBO:HP_0500161	Increased level of carnosine in blood	biolink:OntologyClass	hp		An increased amount of carnosine in the blood.	http://purl.obolibrary.org/obo/HP_0500161		High blood carnosine levels|Increased blood carnosine concenrtation
OBO:HP_0500162	Decreased level of carnosine in blood	biolink:OntologyClass	hp		A decreased amount of carnosine in bood.	http://purl.obolibrary.org/obo/HP_0500162		Decreased blood carnosine concentration|Low blood carnosine levels
OBO:HP_0500163	Hypoornithinemia	biolink:OntologyClass	hp		An abnormal decrease in ornithine in the blood.	http://purl.obolibrary.org/obo/HP_0500163		Decreased blood ornithine concentrations|Low blood ornithine levels
OBO:HP_0500164	Abnormal blood carbon dioxide level	biolink:OntologyClass	hp		An abnormality of carbon dioxide (CO2) in the arterial blood.	http://purl.obolibrary.org/obo/HP_0500164		Abnormal CO2 levels in blood|Abnormal blood carbon dioxide level
OBO:HP_0500165	Abnormal blood oxygen level	biolink:OntologyClass	hp		An abnormality of the partial pressure of oxygen in the arterial blood.	http://purl.obolibrary.org/obo/HP_0500165		Abnormal blood O2 level|Abnormal blood oxygen levels|Abnromal O2 blood concentration
OBO:HP_0500166	Abnormal circulating gastrin level	biolink:OntologyClass	hp		An abnormal concentration of gastrin in the blood.	http://purl.obolibrary.org/obo/HP_0500166		
OBO:HP_0500167	Hypergastrinemia	biolink:OntologyClass	hp		An elevated amount of gastrin in the blood.	http://purl.obolibrary.org/obo/HP_0500167		Elevated gastrin in the blood|Increased blood gastrin
OBO:HP_0500170	Abnormal concentration of acylcarnitine in the urine	biolink:OntologyClass	hp		An abnormal amount of acylcarnitine in the urine.	http://purl.obolibrary.org/obo/HP_0500170		
OBO:HP_0500173	Reflex asystolic syncope	biolink:OntologyClass	hp		A loss of consciousness followed by stiffening and brief clonic movements affecting some or all limbs, often misinterpreted as an epileptic seizure.	http://purl.obolibrary.org/obo/HP_0500173		Reflex anoxic seizure|Reflex anoxic seizures
OBO:HP_0500180	Abnormal circulating amino sulfonic acid concentration	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0500180		
OBO:HP_0500181	Hypertaurinemia	biolink:OntologyClass	hp		An increased amount of taurine in the blood.	http://purl.obolibrary.org/obo/HP_0500181		Elevated serum taurine levels|Increased circulating taurine levels in the blood
OBO:HP_0500182	Hypotaurinemia	biolink:OntologyClass	hp		A decreased amount of taurine in the blood.	http://purl.obolibrary.org/obo/HP_0500182		Decreased circulating taurine levels|Lower blood levels of taurine|Reduced taurine levels in the blood
OBO:HP_0500183	Abnormal CSF carboxylic acid concentration	biolink:OntologyClass	hp		Any deviation from the normal concentration of a carboxylic acid in the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500183		
OBO:HP_0500184	Abnormal CSF amino acid concentration	biolink:OntologyClass	hp		Any deviation from the normal concentration of amino acids in the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500184		Abnormal CSF amino acid level|Abnormal amino acid levels in cerebrospinal fluid|Abnormal cerebrospinal fluid amino acid level
OBO:HP_0500185	Abnormal CSF branched chain amino acid concentration	biolink:OntologyClass	hp		Any deviation from the normal concentration of branched-chain amino acids in the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500185		Abnormal branched-chain amino acid levels in cerbrospinal fluid
OBO:HP_0500186	Abnormal CSF valine concentration	biolink:OntologyClass	hp		Any deviation from the normal concentration of valine in the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500186		Abnormal valine levels in cerebrospinal fluid
OBO:HP_0500187	Increased CSF valine concentration	biolink:OntologyClass	hp		Any increased amount from normal of valine in the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500187		High valine levels in cerebrospinal fluid
OBO:HP_0500188	Decreased CSF valine concentration	biolink:OntologyClass	hp		Any decreased amount from normal of valine in the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500188		Low valine levels in cerebrospinal fluid
OBO:HP_0500189	Abnormal CSF leucine concentration	biolink:OntologyClass	hp		Any deviation from the normal concentration of leucine in the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500189		Abnormal leucine levels in cerebrospinal fluid
OBO:HP_0500190	Decreased CSF leucine concentration	biolink:OntologyClass	hp		Abnormally decreased levels of leucine in the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500190		Low leucine levels in cerebrospinal fluid
OBO:HP_0500191	Increased CSF leucine concentration	biolink:OntologyClass	hp		Abnormally increased levels of leucine in cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500191		High leucine levels in cerebrospinal fluid
OBO:HP_0500192	Abnormal CSF isoleucine concentration	biolink:OntologyClass	hp		Any deviation from the normal concentration of isoleucine in the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500192		Abnormal isoleucine levels in cerebrospinal fluid
OBO:HP_0500193	Increased CSF isoleucine concentration	biolink:OntologyClass	hp		Abnormally increased levels of isoleucine in cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500193		High levels of isoleucine in cerebrospinal fluid
OBO:HP_0500194	Decreased CSF isoleucine concentration	biolink:OntologyClass	hp		Abnormally decreased levels of isoleucine in cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500194		Low levels of isoleucine in cerebrospinal fluid
OBO:HP_0500195	Abnormal CSF glutamine family amino acid concentration	biolink:OntologyClass	hp		Any deviation from the normal concentration of glutamine-family amino acids in the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500195		Abnormal glutamine family amino acid levels in cerebrospinal fluid
OBO:HP_0500196	Abnormal CSF glutamine concentration	biolink:OntologyClass	hp		Any deviation from the normal concentration of glutamine amino acids in the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500196		Abnormal glutamine levels in cerebrospinal fluid
OBO:HP_0500197	Increased CSF glutamine concentration	biolink:OntologyClass	hp		Abnormally increased levels of glutamine in cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500197		High glutamine levels in cerebrospinal fluid
OBO:HP_0500198	Decreased CSF glutamine concentration	biolink:OntologyClass	hp		Abnormally decreased levels of glutamine in cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500198		Low glutamine levels in cerebrospinal fluid
OBO:HP_0500199	Abnormal CSF glutamate concentration	biolink:OntologyClass	hp		Any deviation from the normal concentration of glutamic acid in the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500199		Abnormal glutamic acid levels in cerebrospinal fluid
OBO:HP_0500200	Increased CSF glutamate concentration	biolink:OntologyClass	hp		Abnormally increased levels of glutamic acid in cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500200		High glutamic acid levels in cerebrospinal fluid
OBO:HP_0500201	Decreased CSF glutamate concentration	biolink:OntologyClass	hp		Abnormally decreased levels of glutamic acid in cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500201		Low glutamic acid levels in cerebrospinal fluid
OBO:HP_0500202	Abnormal CSF arginine concentration	biolink:OntologyClass	hp		Any deviation from the normal concentration of arginine in the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500202		Abnormal arginine levels in cerebrospinal fluid
OBO:HP_0500203	Increased CSF arginine concentration	biolink:OntologyClass	hp		Abnormally increased levels of arginine in cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500203		High arginine levels in cerebrospinal fluid
OBO:HP_0500204	Decreased CSF arginine concentration	biolink:OntologyClass	hp		Abnormally decreased levels of arginine in cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500204		Low arginine levels in cerebrospinal fluid
OBO:HP_0500205	Abnormal CSF aspartate family amino acid concentration	biolink:OntologyClass	hp		Any deviation from the normal concentration of aspartate-family amino acids in the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500205		Abnormal aspartate-family amino acid levels in cerebrospinal fluid
OBO:HP_0500206	Abnormal CSF lysine concentration	biolink:OntologyClass	hp		Any deviation from the normal concentration of lysine in the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500206		Abnormal lysine levels in cerebrospinal fluid
OBO:HP_0500207	Decreased CSF lysine concentration	biolink:OntologyClass	hp		Abnormally decreased levels of lysine in cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500207		Low lysine levels in cerebrospinal fluid
OBO:HP_0500208	Increased CSF lysine concentration	biolink:OntologyClass	hp		Abnormally increased levels of lysine in cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500208		High lysine levels in cerebrospinal fluid
OBO:HP_0500209	Abnormal CSF methionine concentration	biolink:OntologyClass	hp		Any deviation from the normal concentration of methionine in the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500209		Abnormal methionine levels in cerebrospinal fluid
OBO:HP_0500210	Increased CSF methionine concentration	biolink:OntologyClass	hp		Abnormally increased levels of methionine in cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500210		High methionine levels in cerebrospinal fluid
OBO:HP_0500211	Abnormal CSF threonine concentration	biolink:OntologyClass	hp		Any deviation from the normal concentration of threonine in the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500211		Abnormal threonine levels in cerebrospinal fluid
OBO:HP_0500212	Increased CSF threonine concentration	biolink:OntologyClass	hp		Abnormally increased levels of threonine in cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500212		High threonine levels in cerebrospinal fluid
OBO:HP_0500213	Decreased CSF threonine concentration	biolink:OntologyClass	hp		Abnormally decreased levels of threonine in cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500213		Low threonine levels in the cerebrospinal fluid
OBO:HP_0500214	Abnormal CSF aromatic amino acid concentration	biolink:OntologyClass	hp		Any deviation from the normal concentration of aromatic amino acids in the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500214		Abnormal aromatic amino acid levels in cerebrospinal fluid
OBO:HP_0500215	Abnormal CSF phenylalanine concentration	biolink:OntologyClass	hp		Any deviation from the normal concentration of phenylalanine in the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500215		Abnormal phenylalanine levels in cerebrospinal fluid
OBO:HP_0500216	Abnormal CSF aspartate concentration	biolink:OntologyClass	hp		Any deviation from the normal concentration of aspartic acid in the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500216		Abnormal CSF aspartic acid concentration|Abnormal aspartic acid levels in cerebrospinal fluid
OBO:HP_0500217	Increased CSF aspartate concentration	biolink:OntologyClass	hp		Abnormally increased levels of aspartic acid in cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500217		High aspartic acid levels in cerebrospinal fluid|Increased CSF aspartic acid concentration
OBO:HP_0500218	Abnormal CSF tryptophan concentration	biolink:OntologyClass	hp		Any deviation from the normal concentration of tryptophan in the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500218		Abnormal tryptophan levels in cerebrospinal fluid
OBO:HP_0500219	Abnormal CSF tyrosine concentration	biolink:OntologyClass	hp		Any deviation from the normal concentration of tyrosine in the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500219		Abnormal tyrosine levels in cerebrospinal fluid
OBO:HP_0500220	Increased CSF tyrosine concentration	biolink:OntologyClass	hp		Abnormally increased levels of tyrosine in cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500220		High tyrosine levels in cerebrospinal fluid
OBO:HP_0500221	Decreased CSF tyrosine concentration	biolink:OntologyClass	hp		Abnormally decreased levels of tyrosine in cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500221		Low tyrosine levels in the cerebrospinal fluid
OBO:HP_0500222	Increased CSF tryptophan concentration	biolink:OntologyClass	hp		Abnormally increased levels of tryptophan in cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500222		High tryptophan levels in cerebrospinal fluid
OBO:HP_0500223	Increased CSF phenylalanine concentration	biolink:OntologyClass	hp		Abnormally increased levels of phenylalanine in cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500223		High phenylalanine levels in cerebrospinal fluid
OBO:HP_0500224	Decreased CSF phenylalanine concentration	biolink:OntologyClass	hp		Abnormally decreased levels of phenylalanine in cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500224		Low phenylalanine levels in cerebrospinal fluid
OBO:HP_0500225	Abnormal CSF serine family amino acid concentration	biolink:OntologyClass	hp		Any deviation from the normal concentration of serine-family amino acids in the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500225		Abnormal serine-family amino acid levels in cerebrospinal fluid
OBO:HP_0500226	Abnormal CSF serine concentration	biolink:OntologyClass	hp		Any deviation from the normal concentration of serine in the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500226		Abnormal serine levels in cerebrospinal fluid
OBO:HP_0500227	Increased CSF serine concentration	biolink:OntologyClass	hp		Abnormally increased levels of serine in cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500227		High serine levels in cerebrospinal fluid
OBO:HP_0500228	Decreased CSF serine concentration	biolink:OntologyClass	hp		Abnormally decreased levels of serine in cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500228		Low serine levels in cerebrospinal fluid
OBO:HP_0500229	Abnormal CSF glycine concentration	biolink:OntologyClass	hp		Any deviation from the normal concentration of glycine in the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500229		Abnormal glycine levels in cerebrospinal fluid.
OBO:HP_0500230	Increased CSF glycine concentration	biolink:OntologyClass	hp		Abnormally increased levels of glycine in cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500230		High glycine levels in cerebrospinal fluid
OBO:HP_0500231	Abnormal CSF pyruvate family amino acid concentration	biolink:OntologyClass	hp		Any deviation from the normal concentration of pyruvate-family amino acids in the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500231		Abnormal pyruvate-family amino acid levels in cerebrospinal fluid
OBO:HP_0500232	Abnormal CSF alanine concentration	biolink:OntologyClass	hp		Any deviation from the normal concentration of alanine in the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500232		Abnormal alanine levels in cerebrospinal fluid
OBO:HP_0500233	Increased CSF alanine concentration	biolink:OntologyClass	hp		Abnormally increased levels of alanine in cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500233		High alanine levels in cerebrospinal fluid
OBO:HP_0500234	Decreased CSF alanine concentration	biolink:OntologyClass	hp		Abnormally decreased levels of alanine in cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500234		Low alanine levels in cerebrospinal fluid
OBO:HP_0500235	Abnormal CSF histidine concentration	biolink:OntologyClass	hp		Any deviation from the normal concentration of histidine in the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500235		Abnormal histidine levels in cerebrospinal fluid
OBO:HP_0500236	Increased CSF histidine concentration	biolink:OntologyClass	hp		Abnormally increased levels of histidine in cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500236		High histidine levels in cerebrospinal fluid
OBO:HP_0500237	Decreased CSF histidine concentration	biolink:OntologyClass	hp		Abnormally decreased levels of histidine in cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500237		Low histidine levels in cerebrospinal fluid
OBO:HP_0500238	Abnormal CSF albumin concentration	biolink:OntologyClass	hp		Any deviation from the normal concentration of albumin in the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500238		Abnormal albumin levels in cerebrospinal fluid
OBO:HP_0500239	Increased CSF albumin concentration	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0500239		High albumin levels in cerebrospinal fluid
OBO:HP_0500240	Abnormal CSF carnosine concentration	biolink:OntologyClass	hp		Any deviation from the normal concentration of carnosine in the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500240		Abnormal carnosine levels in cerebrospinal fluid
OBO:HP_0500241	Abnormal CSF homocarnosine concentration	biolink:OntologyClass	hp		Any deviation from the normal concentration of homocarnosine in the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500241		Abnormal homocarnosine levels in cerebrospinal fluid
OBO:HP_0500242	Increased CSF homocarnosine concentration	biolink:OntologyClass	hp		Abnormally increased levels of homocarnosine in cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500242		High homocarnosine levels in cerebrospinal fluid
OBO:HP_0500243	Abnormal CSF ornithine concentration	biolink:OntologyClass	hp		Any deviation from the normal concentration of ornithine in the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500243		Abnormal ornithine levels in cerebrospinal fluid
OBO:HP_0500244	Increased CSF ornithine concentration	biolink:OntologyClass	hp		Abnormally increased levels of ornithine in cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500244		High ornithine levels in cerebrospinal fluid
OBO:HP_0500245	Abnormal CSF citrulline concentration	biolink:OntologyClass	hp		Any deviation from the normal concentration of citrulline in the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500245		Abnormal citrulline levels in cerebrospinal fluid
OBO:HP_0500246	Increased CSF citrulline concentration	biolink:OntologyClass	hp		Abnormally increased levels of citrulline in cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500246		High citrulline levels in cerebrospinal fluid
OBO:HP_0500247	Abnormal CSF alpha-aminobutyrate concentration	biolink:OntologyClass	hp		Any deviation from the normal concentration of alpha-aminobutyrate in the cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500247		Abnormal alpha-aminobutyrate levels in cerebrospinal fluid
OBO:HP_0500248	Increased CSF alpha-aminobutyrate concentration	biolink:OntologyClass	hp		Abnormally increased levels of alpha-aminobutyrate in cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500248		High alpha-aminobutyrate levels in cerebrospinal fluid
OBO:HP_0500249	Abnormal circulating ethanolamine concentration	biolink:OntologyClass	hp		Any deviation from the normal concentration of ethanolamine in circulation.	http://purl.obolibrary.org/obo/HP_0500249		Abnormal ethanolamine levels in the blood
OBO:HP_0500250	Increased circulating ethanolamine concentration	biolink:OntologyClass	hp		Abnormally increased levels of ethanolamine in circulation.	http://purl.obolibrary.org/obo/HP_0500250		High ethanolamine levels in the blood
OBO:HP_0500251	Abnormal urine sebacic acid concentration	biolink:OntologyClass	hp		Abnormal concentration of sebacic acid in the urine.	http://purl.obolibrary.org/obo/HP_0500251		Abnormal urine decanedioic acid concentration
OBO:HP_0500252	Increased urine sebacic acid concentration	biolink:OntologyClass	hp		Elevated concentration of sebacic acid in the urine.	http://purl.obolibrary.org/obo/HP_0500252		Increased urine decanedioic acid concentration
OBO:HP_0500253	Increased level of gamma-aminobutyric acid in urine	biolink:OntologyClass	hp		Elevated concentration of gamma-aminobutyric acid in the urine.	http://purl.obolibrary.org/obo/HP_0500253		Increased urinary excretion of gamma-aminobutyric acid (GABA)
OBO:HP_0500254	Abnormal urine hexanoylglycine concentration	biolink:OntologyClass	hp		Abnormal concentration of hexanoylglycine in the urine.	http://purl.obolibrary.org/obo/HP_0500254		Abnormal urinary N-hexanoylglycine levels
OBO:HP_0500255	Increased level of hexanoylglycine in urine	biolink:OntologyClass	hp		Elevated concentration of hexanoylglycine in the urine.	http://purl.obolibrary.org/obo/HP_0500255		Elevated urinary N-hexanoylglycine concentration
OBO:HP_0500256	Abnormal urine isobutyrylglycine concentration	biolink:OntologyClass	hp		Abnormal concentration of isobutyrylglycine in the urine.	http://purl.obolibrary.org/obo/HP_0500256		Abnormal urinary isobutyrylglycine levels
OBO:HP_0500257	Increased urine isobutyrylglycine concentration	biolink:OntologyClass	hp		Elevated concentration of isobutyrylglycine in the urine.	http://purl.obolibrary.org/obo/HP_0500257		High urinary isobutyrylglycine levels
OBO:HP_0500258	Abnormal carbon dioxide level in cord blood	biolink:OntologyClass	hp		Abnormal amount of carbon dioxide in umbilical cord blood	http://purl.obolibrary.org/obo/HP_0500258		Abnormal CO2 level in cord blood|Abnormal umbilical cord blood levels of carbon dioxide
OBO:HP_0500259	Abnormal oxygen level in cord blood	biolink:OntologyClass	hp		An abnormal level of blood oxygen in the cord blood.	http://purl.obolibrary.org/obo/HP_0500259		Abnormal O2 level in cord blood|Abnormal cord blood oxygen levels|Abnormal oxygen amount in umbilical cord blood
OBO:HP_0500260	Triggered by head trauma	biolink:OntologyClass	hp		Applies to a sign or symptom that is provoked or brought about by exposure to a head trauma.	http://purl.obolibrary.org/obo/HP_0500260		Head trauma triggered symptoms
OBO:HP_0500261	Triggered by anesthetics	biolink:OntologyClass	hp		Applies to a sign or symptom that is provoked or brought about by exposure to anesthetics.	http://purl.obolibrary.org/obo/HP_0500261		Triggered by anaesthetics|Anesthetics trigger episodes|Anesthetics triggered symptoms
OBO:HP_0500262	Atrichia	biolink:OntologyClass	hp		The most dramatic and severe form of hair loss characterized by an absence of hair follicles.	http://purl.obolibrary.org/obo/HP_0500262		
OBO:HP_0500263	Abnormal helper T cell proportion	biolink:OntologyClass	hp		Abnormal proportion of helper T cells relative to the total number of T cells.	http://purl.obolibrary.org/obo/HP_0500263		Abnormal proportion of circulating T-helper cells
OBO:HP_0500264	Increased helper T cell proportion	biolink:OntologyClass	hp		Increased proportion of helper T cells relative to the total number of T cells.	http://purl.obolibrary.org/obo/HP_0500264		Elevated helper T cell proportion|Increased proportion T-helper cells
OBO:HP_0500265	Increased proportion of CD8-positive, alpha-beta TEMRA T cells	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0500265		Increased proportion of effector memory CD8-positive, alpha-beta T cells, terminally differentiated
OBO:HP_0500266	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0500266		Decreased proportion effector memory CD8-positive, alpha-beta T cells, terminally differentiated
OBO:HP_0500267	Abnormal proportion of CD4-positive helper T cells	biolink:OntologyClass	hp		An abnormal proportion of circulating CD4-positive helper T cells relative to total T cell count.	http://purl.obolibrary.org/obo/HP_0500267		
OBO:HP_0500269	Abnormal proportion of gamma-delta T cells	biolink:OntologyClass	hp		Abnormal proportion of gamma-delta T cells relative to the total number of T cells.	http://purl.obolibrary.org/obo/HP_0500269		Abnormal proportion of gamma-delta T-lymphocytes|Abnormal proportion of gammadelta T cells|Abnormal proprotion of gamma-delta T lymphocytes
OBO:HP_0500270	Increased proportion of gamma-delta T cells	biolink:OntologyClass	hp		Increased proportion of gamma-delta T cells relative to the total number of T cells.	http://purl.obolibrary.org/obo/HP_0500270		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
OBO:HP_0500271	Decreased proportion of gamma-delta T cells	biolink:OntologyClass	hp		Decreased proportion of gamma-delta T cells relative to the total number of T cells.	http://purl.obolibrary.org/obo/HP_0500271		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
OBO:HP_0500272	Abnormal proportion of immature gamma-delta T cells	biolink:OntologyClass	hp		Abnormal proportion of immature gamma-delta T cells relative to the total number of T cells.	http://purl.obolibrary.org/obo/HP_0500272		Abnormal proportion of immature gamma-delta T lymphocytes|Abnormal proportion of immature gamma-delta T-cells|Abnormal proportion of immature gamma-delta T-lymphocytes
OBO:HP_0500273	Increased proportion of immature gamma-delta T cells	biolink:OntologyClass	hp		Increased proportion of immature gamma-delta T cells relative to the total number of T cells.	http://purl.obolibrary.org/obo/HP_0500273		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
OBO:HP_0500274	Decreased proportion of immature gamma-delta T cells	biolink:OntologyClass	hp		Decreased proportion of immature gamma-delta T cells relative to the total number of T cells.	http://purl.obolibrary.org/obo/HP_0500274		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
OBO:HP_0550003	Proximal scleroderma	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0550003		
OBO:HP_0550004	Verruca plana	biolink:OntologyClass	hp		Slightly raised wart 2-5 mm in diameter often associated with viral infections, commonly persistent in immunodeficient individuals.	http://purl.obolibrary.org/obo/HP_0550004		Flat wart
OBO:HP_0550005	Bilateral basilar pulmonary fibrosis	biolink:OntologyClass	hp		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.	http://purl.obolibrary.org/obo/HP_0550005		Lung disease with systemic sclerosis|Scleroderma lung disease|Scleroderma of lung
OBO:HP_3000001	obsolete Abnormal heart morphology	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_3000001		
OBO:HP_3000002	Abnormal inner ear epithelium morphology	biolink:OntologyClass	hp	UMLS:C4073211	Any structural anomaly of an inner ear epithelium.	http://purl.obolibrary.org/obo/HP_3000002		
OBO:HP_3000003	Abnormal mandibular ramus morphology	biolink:OntologyClass	hp	UMLS:C4073212	An abnormality of a mandibular ramus.	http://purl.obolibrary.org/obo/HP_3000003		Abnormality of mandibular ramus
OBO:HP_3000004	Abnormality of frontalis muscle belly	biolink:OntologyClass	hp	UMLS:C4073213	An abnormality of a frontalis muscle belly.	http://purl.obolibrary.org/obo/HP_3000004		
OBO:HP_3000005	Abnormality of masseter muscle	biolink:OntologyClass	hp	UMLS:C4073214	An abnormality of a masseter muscle.	http://purl.obolibrary.org/obo/HP_3000005		
OBO:HP_3000006	Abnormality of medial pterygoid muscle	biolink:OntologyClass	hp	UMLS:C4073215	An abnormality of a medial pterygoid muscle.	http://purl.obolibrary.org/obo/HP_3000006		
OBO:HP_3000007	Abnormality of mentalis muscle	biolink:OntologyClass	hp	UMLS:C4073216	An abnormality of a mentalis muscle.	http://purl.obolibrary.org/obo/HP_3000007		
OBO:HP_3000008	Abnormality of mylohyoid muscle	biolink:OntologyClass	hp	UMLS:C4073217	An abnormality of a mylohyoid muscle.	http://purl.obolibrary.org/obo/HP_3000008		
OBO:HP_3000009	Abnormality of nasalis muscle	biolink:OntologyClass	hp	UMLS:C4073218	An abnormality of a nasalis muscle.	http://purl.obolibrary.org/obo/HP_3000009		
OBO:HP_3000010	Abnormality of orbicularis oris muscle	biolink:OntologyClass	hp	UMLS:C4073219	An abnormality of an orbicularis oris muscle.	http://purl.obolibrary.org/obo/HP_3000010		
OBO:HP_3000011	Abnormality of palatoglossus muscle	biolink:OntologyClass	hp	UMLS:C4073220	An abnormality of a palatoglossus muscle.	http://purl.obolibrary.org/obo/HP_3000011		
OBO:HP_3000012	Abnormality of palatopharyngeus muscle	biolink:OntologyClass	hp	UMLS:C4073221	An abnormality of a palatopharyngeus muscle.	http://purl.obolibrary.org/obo/HP_3000012		
OBO:HP_3000013	Abnormality of platysma	biolink:OntologyClass	hp	UMLS:C4073222	An abnormality of the platysma muscle.	http://purl.obolibrary.org/obo/HP_3000013		Abnormality of the platysma muscle
OBO:HP_3000014	Abnormality of procerus muscle	biolink:OntologyClass	hp	UMLS:C4073223	An abnormality of a procerus.	http://purl.obolibrary.org/obo/HP_3000014		
OBO:HP_3000015	Abnormality of risorius muscle	biolink:OntologyClass	hp	UMLS:C4073224	An abnormality of a risorius muscle.	http://purl.obolibrary.org/obo/HP_3000015		
OBO:HP_3000016	Abnormality of styloglossus muscle	biolink:OntologyClass	hp	UMLS:C4073225	An abnormality of the styloglossus muscle.	http://purl.obolibrary.org/obo/HP_3000016		
OBO:HP_3000017	Abnormality of temporalis muscle	biolink:OntologyClass	hp	UMLS:C4073226	An abnormality of a temporalis muscle.	http://purl.obolibrary.org/obo/HP_3000017		
OBO:HP_3000018	Abnormality of zygomaticus major muscle	biolink:OntologyClass	hp	UMLS:C4073227	An abnormality of a zygomaticus major muscle.	http://purl.obolibrary.org/obo/HP_3000018		
OBO:HP_3000019	Abnormality of buccal mucosa	biolink:OntologyClass	hp	UMLS:C4073228	An abnormality of a buccal mucosa.	http://purl.obolibrary.org/obo/HP_3000019		Abnormality of cheek mucosa|Abnormality of inside lining of cheek
OBO:HP_3000020	Abnormality of zygomaticus minor muscle	biolink:OntologyClass	hp	UMLS:C4073229	An abnormality of a zygomaticus minor muscle.	http://purl.obolibrary.org/obo/HP_3000020		
OBO:HP_3000021	Abnormality of buccal fat pad	biolink:OntologyClass	hp	UMLS:C4073230	An abnormality of a buccal fat pad.	http://purl.obolibrary.org/obo/HP_3000021		
OBO:HP_3000022	Abnormality of cartilage of external ear	biolink:OntologyClass	hp	UMLS:C4073231	An abnormality of a cartilage of external ear.	http://purl.obolibrary.org/obo/HP_3000022		
OBO:HP_3000023	Abnormality of angular artery	biolink:OntologyClass	hp	UMLS:C4073232	An abnormality of the angular artery, the terminal branch of the facial artery.	http://purl.obolibrary.org/obo/HP_3000023		
OBO:HP_3000024	Abnormal facial artery morphology	biolink:OntologyClass	hp	UMLS:C4073233	Any structural abnormality of a facial artery, one of the branches of the external carotid artery.	http://purl.obolibrary.org/obo/HP_3000024		Abnormality of facial artery
OBO:HP_3000025	Abnormality of ciliary ganglion	biolink:OntologyClass	hp	UMLS:C4073234	An abnormality of a ciliary ganglion.	http://purl.obolibrary.org/obo/HP_3000025		
OBO:HP_3000026	obsolete Abnormality of common carotid artery plus branches	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_3000026		
OBO:HP_3000027	Abnormality of buccinator muscle	biolink:OntologyClass	hp	UMLS:C4073236	An abnormality of a buccinator muscle.	http://purl.obolibrary.org/obo/HP_3000027		
OBO:HP_3000028	Abnormality of depressor anguli oris muscle	biolink:OntologyClass	hp	UMLS:C4073237	An abnormality of a depressor anguli oris muscle.	http://purl.obolibrary.org/obo/HP_3000028		
OBO:HP_3000029	Abnormality of depressor labii inferioris	biolink:OntologyClass	hp	UMLS:C4073238	An abnormality of a depressor labii inferioris.	http://purl.obolibrary.org/obo/HP_3000029		Abnormality of depressor labii inferioris muscle
OBO:HP_3000030	Abnormality of bony orbit of skull	biolink:OntologyClass	hp	UMLS:C4073239	An abnormality of an orbit of skull.	http://purl.obolibrary.org/obo/HP_3000030		Abnormality of bones of the orbit of the skull|Abnormality of the bony eye socket|Abnormality of the orbital bones of skull
OBO:HP_3000031	Abnormality of anterior ethmoidal artery	biolink:OntologyClass	hp	UMLS:C4073287	An abnormality of an anterior ethmoidal artery.	http://purl.obolibrary.org/obo/HP_3000031		
OBO:HP_3000032	Abnormality of central retinal artery	biolink:OntologyClass	hp	UMLS:C4073240	An abnormality of a central retinal artery.	http://purl.obolibrary.org/obo/HP_3000032		
OBO:HP_3000033	Abnormal nasopharyngeal adenoid morphology	biolink:OntologyClass	hp	UMLS:C4073241	Any abnormality of nasopharyngeal adenoids.	http://purl.obolibrary.org/obo/HP_3000033		Abnormality of adenoids|Abnormality of nasopharyngeal adenoids|Abnormality of nasopharyngeal tonsil|Abnormality of pharyngeal tonsil
OBO:HP_3000034	Abnormality nasal septum cartilage morphology	biolink:OntologyClass	hp	UMLS:C4073242	An abnormality of a cartilage of nasal septum.	http://purl.obolibrary.org/obo/HP_3000034		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
OBO:HP_3000035	Abnormality of cervical plexus	biolink:OntologyClass	hp	UMLS:C4073243	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.	http://purl.obolibrary.org/obo/HP_3000035		
OBO:HP_3000036	Abnormality of head blood vessel	biolink:OntologyClass	hp	UMLS:C4073244	An abnormality of a blood vessel of the head, including branches of the arterial and venous systems of the head.	http://purl.obolibrary.org/obo/HP_3000036		Abnormality of blood vessel of head|Abnormality of head blood vessel|Abnormality of vasculature of head
OBO:HP_3000037	Abnormality of neck blood vessel	biolink:OntologyClass	hp	UMLS:C4073245	An abnormality of a blood vessel of the neck, including branches of the arterial and venous systems of the neck.	http://purl.obolibrary.org/obo/HP_3000037		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
OBO:HP_3000038	Abnormal cricoid cartilage morphology	biolink:OntologyClass	hp	UMLS:C4073246	Any structural abnormality of a cricoid cartilage, that is, of the ring-shaped cartilage of the larynx.	http://purl.obolibrary.org/obo/HP_3000038		Abnormality of cricoid cartilage
OBO:HP_3000039	Abnormality of dorsal nasal artery	biolink:OntologyClass	hp	UMLS:C4073247	An abnormality of a dorsal nasal artery.	http://purl.obolibrary.org/obo/HP_3000039		
OBO:HP_3000040	Abnormality of ethmoid sinus	biolink:OntologyClass	hp	UMLS:C4073248	An abnormality of an ethmoid sinus.	http://purl.obolibrary.org/obo/HP_3000040		Abnormality of ethmoidal air cells
OBO:HP_3000041	Abnormality of external carotid artery	biolink:OntologyClass	hp	UMLS:C4073249	An abnormality of an external carotid artery.	http://purl.obolibrary.org/obo/HP_3000041		Abnormality of carotid artery|Disorder of carotid artery
OBO:HP_3000042	Abnormal jugular vein morphology	biolink:OntologyClass	hp	UMLS:C4073250	Any structural abnormality of a jugular vein.	http://purl.obolibrary.org/obo/HP_3000042		Abnormality of jugular vein
OBO:HP_3000043	Abnormal facial vein morphology	biolink:OntologyClass	hp	UMLS:C4073251	An abnormality of a facial vein.	http://purl.obolibrary.org/obo/HP_3000043		Abnormal vein of face|Abnormality of facial vein
OBO:HP_3000044	Abnormality of frontal process of maxilla	biolink:OntologyClass	hp	UMLS:C4073252	An abnormality of a frontal process of the maxilla bone.	http://purl.obolibrary.org/obo/HP_3000044		
OBO:HP_3000045	Abnormality of genioglossus muscle	biolink:OntologyClass	hp	UMLS:C4073253	An abnormality of a genioglossus muscle.	http://purl.obolibrary.org/obo/HP_3000045		
OBO:HP_3000046	Abnormality of geniohyoid muscle	biolink:OntologyClass	hp	UMLS:C4073254	An abnormality of a geniohyoid muscle.	http://purl.obolibrary.org/obo/HP_3000046		
OBO:HP_3000047	Abnormal glossopharyngeal nerve morphology	biolink:OntologyClass	hp	UMLS:C4073255	Any structural anomaly of the glossopharyngeal nerve, the ninth paired cranial nerve (CN IX).	http://purl.obolibrary.org/obo/HP_3000047		Abnormality of glossopharyngeal nerve
OBO:HP_3000048	Abnormal great auricular nerve morphology	biolink:OntologyClass	hp	UMLS:C4073256	Any structural anomaly of a great auricular nerve.	http://purl.obolibrary.org/obo/HP_3000048		
OBO:HP_3000049	Abnormal greater palatine artery morphology	biolink:OntologyClass	hp	UMLS:C4073257	An abnormality of a greater palatine artery.	http://purl.obolibrary.org/obo/HP_3000049		Abnormality of greater palatine artery
OBO:HP_3000050	Abnormality of odontoid tissue	biolink:OntologyClass	hp	UMLS:C4073258	An abnormality of an odontoid tissue.	http://purl.obolibrary.org/obo/HP_3000050		Abnormality of hard tissues of teeth|Abnormality of tooth hard tissue
OBO:HP_3000051	Abnormal hyoglossus muscle morphology	biolink:OntologyClass	hp	UMLS:C4073259	An abnormality of a hyoglossus muscle.	http://purl.obolibrary.org/obo/HP_3000051		Abnormality of hyoglossus muscle
OBO:HP_3000052	Abnormality of hyoid bone	biolink:OntologyClass	hp	UMLS:C4073260	An abnormality of a hyoid bone.	http://purl.obolibrary.org/obo/HP_3000052		
OBO:HP_3000053	Abnormal hypopharynx morphology	biolink:OntologyClass	hp	UMLS:C4073261	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.	http://purl.obolibrary.org/obo/HP_3000053		Abnormality of hypopharynx|Abnormality of lower pharynx
OBO:HP_3000054	Abnormality of inferior alveolar artery	biolink:OntologyClass	hp	UMLS:C4073262	An abnormality of an inferior alveolar artery.	http://purl.obolibrary.org/obo/HP_3000054		
OBO:HP_3000055	Abnormality of inferior alveolar nerve	biolink:OntologyClass	hp	UMLS:C4073263	An abnormality of an inferior alveolar nerve.	http://purl.obolibrary.org/obo/HP_3000055		
OBO:HP_3000056	Abnormality of artery of lower lip	biolink:OntologyClass	hp	UMLS:C4073264	An abnormality of an artery of lower lip.	http://purl.obolibrary.org/obo/HP_3000056		Abnormality of the inferior labial artery
OBO:HP_3000057	Abnormality of inferior oblique extraocular muscle	biolink:OntologyClass	hp	UMLS:C4073265	An abnormality of an inferior oblique extraocular muscle.	http://purl.obolibrary.org/obo/HP_3000057		Abnormality of the inferior oblique muscle
OBO:HP_3000058	Abnormality of inferior rectus extraocular muscle	biolink:OntologyClass	hp	UMLS:C4073266	An abnormality of an inferior rectus extraocular muscle.	http://purl.obolibrary.org/obo/HP_3000058		
OBO:HP_3000059	Abnormal inferior thyroid vein morphology	biolink:OntologyClass	hp	UMLS:C4073267	An abnormality of an inferior thyroid vein.	http://purl.obolibrary.org/obo/HP_3000059		Abnormality of inferior thyroid vein
OBO:HP_3000060	Abnormality of infraorbital artery	biolink:OntologyClass	hp	UMLS:C4073268	An abnormality of an infraorbital artery.	http://purl.obolibrary.org/obo/HP_3000060		
OBO:HP_3000061	Abnormality of infra-orbital nerve	biolink:OntologyClass	hp	UMLS:C4073269	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.	http://purl.obolibrary.org/obo/HP_3000061		Abnormality of the infraorbital nerve
OBO:HP_3000062	Abnormal internal carotid artery morphology	biolink:OntologyClass	hp	UMLS:C1860488	An abnormality of an internal carotid artery.	http://purl.obolibrary.org/obo/HP_3000062		Abnormality of internal carotid artery
OBO:HP_3000063	Abnormality of internal jugular vein	biolink:OntologyClass	hp	UMLS:C4073270	An abnormality of an internal jugular vein.	http://purl.obolibrary.org/obo/HP_3000063		
OBO:HP_3000064	Abnormality of intrinsic muscle of tongue	biolink:OntologyClass	hp	UMLS:C4073271	An abnormality of an intrinsic muscle of tongue.	http://purl.obolibrary.org/obo/HP_3000064		Abnormality of intrinsic lingual muscle
OBO:HP_3000065	Abnormal lacrimal artery morphology	biolink:OntologyClass	hp	UMLS:C4073272	An abnormality of a lacrimal artery.	http://purl.obolibrary.org/obo/HP_3000065		Abnormality of lacrimal artery
OBO:HP_3000066	Abnormal lacrimal sac morphology	biolink:OntologyClass	hp	UMLS:C4073273	An abnormality of a lacrimal sac.	http://purl.obolibrary.org/obo/HP_3000066		Abnormality of lacrimal sac
OBO:HP_3000067	Abnormal lateral cricoarytenoid muscle morphology	biolink:OntologyClass	hp	UMLS:C4073274	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.	http://purl.obolibrary.org/obo/HP_3000067		Abnormal anterior cricoarytenoid muscle morphology|Abnormality of lateral crico-arytenoid|Abnormality of lateral cricoarytenoid muscle
OBO:HP_3000068	Abnormality of lateral pterygoid muscle	biolink:OntologyClass	hp	UMLS:C4073275	An abnormality of a lateral pterygoid muscle.	http://purl.obolibrary.org/obo/HP_3000068		
OBO:HP_3000069	Abnormality of lateral rectus extra-ocular muscle	biolink:OntologyClass	hp	UMLS:C4073276	An abnormality of a lateral rectus extra-ocular muscle.	http://purl.obolibrary.org/obo/HP_3000069		
OBO:HP_3000070	Abnormality of levator anguli oris	biolink:OntologyClass	hp	UMLS:C4073277	An abnormality of a levator anguli oris.	http://purl.obolibrary.org/obo/HP_3000070		
OBO:HP_3000071	Abnormality of levator labii superioris	biolink:OntologyClass	hp	UMLS:C4073278	An abnormality of a levator labii superioris.	http://purl.obolibrary.org/obo/HP_3000071		
OBO:HP_3000072	Abnormal levator palpebrae superioris morphology	biolink:OntologyClass	hp	UMLS:C4073279	An abnormality of a levator palpebrae superioris.	http://purl.obolibrary.org/obo/HP_3000072		
OBO:HP_3000073	Abnormality of levator veli palatini muscle	biolink:OntologyClass	hp	UMLS:C4073280	An abnormality of a levator veli palatini.	http://purl.obolibrary.org/obo/HP_3000073		
OBO:HP_3000074	Abnormal lingual artery morphology	biolink:OntologyClass	hp	UMLS:C4073281	Any structural abnormality of a lingual artery.	http://purl.obolibrary.org/obo/HP_3000074		Abnormality of lingual artery
OBO:HP_3000075	Abnormal lingual nerve morphology	biolink:OntologyClass	hp	UMLS:C4073282	Any structural anomaly of a lingual nerve.	http://purl.obolibrary.org/obo/HP_3000075		Abnormality of lingual nerve
OBO:HP_3000076	Abnormality of lingual tonsil	biolink:OntologyClass	hp	UMLS:C4073283	An abnormality of a lingual tonsil.	http://purl.obolibrary.org/obo/HP_3000076		
OBO:HP_3000077	Abnormal mandible condylar process morphology	biolink:OntologyClass	hp	UMLS:C4073284	An abnormality of a mandible condylar process.	http://purl.obolibrary.org/obo/HP_3000077		Abnormality of mandible condylar process
OBO:HP_3000078	Abnormal mandible coronoid process morphology	biolink:OntologyClass	hp	UMLS:C4073285	An abnormality of a mandible coronoid process.	http://purl.obolibrary.org/obo/HP_3000078		Abnormality of mandible coronoid process
OBO:HP_3000079	Abnormal mandibular symphysis morphology	biolink:OntologyClass	hp	UMLS:C4073286	A structural abnormality of a mandibular symphysis.	http://purl.obolibrary.org/obo/HP_3000079		Abnormality of mandible symphysis
OBO:hp#abbreviation	abbreviation	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/hp#abbreviation		
OBO:hp#display_label	display label	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/hp#display_label		
OBO:hp#layperson	layperson term	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/hp#layperson		
OBO:hp#obsolete_synonym	discarded/obsoleted synonym	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/hp#obsolete_synonym		
OBO:hp#plural_form	plural form	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/hp#plural_form		
OBO:hp#uk_spelling	UK spelling	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/hp#uk_spelling		
OBO:HP_0045087	Hip joint hypermobility	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/HP_0045087		
OBO:hp#is_observable_through	is_observable_through	biolink:OntologyClass	hp			http://purl.obolibrary.org/obo/hp#is_observable_through