Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal femoral neck/head morphology (HP:0003366)

Parent Node:
Abnormal femoral neck morphology (HP:0003367)

..Starting node
..Coxa valga (HP:0002673)

Term ID:

2673

Name:

Coxa valga

Synonym:

Coxa valga deformity; Valgus hip

Definition:

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).

Comments:

Reference:

HP:0002673

Genes and Diseases:

Child Nodes:

........

Bilateral coxa valga (HP:0010665)

Sister Nodes:

Broad femoral neck (HP:0006429)

Coxa vara (HP:0002812)

Narrow femoral neck (HP:0008819)

Short femoral neck (HP:0100864)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002673	HP:0002673	Coxa valga	0	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.	254
HP:0002673	HP:0002673	Coxa valga	0	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040281 - Very frequent	254
HP:0002673	HP:0002673	Coxa valga	0	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent	165
HP:0002673	HP:0002673	Coxa valga	0	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent	72
HP:0002673	HP:0002673	Coxa valga	0	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1	.	72
HP:0002673	HP:0002673	Coxa valga	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0002673	HP:0002673	Coxa valga	0	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	.	3
HP:0002673	HP:0002673	Coxa valga	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0002673	HP:0002673	Coxa valga	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040283 - Occasional	192
HP:0002673	HP:0002673	Coxa valga	0	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome	.	192
HP:0002673	HP:0002673	Coxa valga	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.	169
HP:0002673	HP:0002673	Coxa valga	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.	38
HP:0002673	HP:0002673	Coxa valga	0	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1	.	29
HP:0002673	HP:0002673	Coxa valga	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	5
HP:0002673	HP:0002673	Coxa valga	0	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked	.	7
HP:0002673	HP:0002673	Coxa valga	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0002673	HP:0002673	Coxa valga	0	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome	HP:0040282 - Frequent	85
HP:0002673	HP:0002673	Coxa valga	0	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0002673	HP:0002673	Coxa valga	0	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG	HP:0040283 - Occasional	52
HP:0002673	HP:0002673	Coxa valga	0	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome	.	67
HP:0002673	HP:0002673	Coxa valga	0	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh		39
HP:0002673	HP:0002673	Coxa valga	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.	215
HP:0002673	HP:0002673	Coxa valga	0	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent	373
HP:0002673	HP:0002673	Coxa valga	0	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent	243
HP:0002673	HP:0002673	Coxa valga	0	COL2A1 CL E G H	1280	2200	OMIM:132450	Epiphyseal dysplasia, multiple, with myopia and conductive deafness	.	284
HP:0002673	HP:0002673	Coxa valga	0	COL2A1 CL E G H	1280	2200	OMIM:616583	Spondyloepiphyseal dysplasia, Stanescu type	.	284
HP:0002673	HP:0002673	Coxa valga	0	COL9A1 CL E G H	1297	2217	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly		110
HP:0002673	HP:0002673	Coxa valga	0	COL9A2 CL E G H	1298	2218	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly		110
HP:0002673	HP:0002673	Coxa valga	0	COL9A3 CL E G H	1299	2219	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly		137
HP:0002673	HP:0002673	Coxa valga	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0002673	HP:0002673	Coxa valga	0	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome	HP:0040282 - Frequent
HP:0002673	HP:0002673	Coxa valga	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0002673	HP:0002673	Coxa valga	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	14
HP:0002673	HP:0002673	Coxa valga	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	5
HP:0002673	HP:0002673	Coxa valga	0	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome	.	4
HP:0002673	HP:0002673	Coxa valga	0	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	.	65
HP:0002673	HP:0002673	Coxa valga	0	ENPP1 CL E G H	5167	3356	OMIM:613312	Hypophosphatemic rickets, autosomal recessive, 2	.	151
HP:0002673	HP:0002673	Coxa valga	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1	.	199
HP:0002673	HP:0002673	Coxa valga	0	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome		199
HP:0002673	HP:0002673	Coxa valga	0	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas	HP:0040283 - Occasional	96
HP:0002673	HP:0002673	Coxa valga	0	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas	HP:0040283 - Occasional	102
HP:0002673	HP:0002673	Coxa valga	0	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities	.	3
HP:0002673	HP:0002673	Coxa valga	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.	81
HP:0002673	HP:0002673	Coxa valga	0	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.	493
HP:0002673	HP:0002673	Coxa valga	0	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome	HP:0040282 - Frequent	493
HP:0002673	HP:0002673	Coxa valga	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.	493
HP:0002673	HP:0002673	Coxa valga	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.	493
HP:0002673	HP:0002673	Coxa valga	0	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS	.	43
HP:0002673	HP:0002673	Coxa valga	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0002673	HP:0002673	Coxa valga	0	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A	.	123
HP:0002673	HP:0002673	Coxa valga	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0002673	HP:0002673	Coxa valga	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0002673	HP:0002673	Coxa valga	0	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II	.	120
HP:0002673	HP:0002673	Coxa valga	0	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)	.	120
HP:0002673	HP:0002673	Coxa valga	0	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia	HP:0040284 - Very rare	270
HP:0002673	HP:0002673	Coxa valga	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0002673	HP:0002673	Coxa valga	0	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive	HP:0040283 - Occasional	2
HP:0002673	HP:0002673	Coxa valga	0	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0002673	HP:0002673	Coxa valga	0	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0002673	HP:0002673	Coxa valga	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040282 - Frequent	345
HP:0002673	HP:0002673	Coxa valga	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.	345
HP:0002673	HP:0002673	Coxa valga	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.	115
HP:0002673	HP:0002673	Coxa valga	0	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1	.	28
HP:0002673	HP:0002673	Coxa valga	0	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040282 - Frequent	7
HP:0002673	HP:0002673	Coxa valga	0	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040281 - Very frequent	23
HP:0002673	HP:0002673	Coxa valga	0	KDELR2 CL E G H	11014	6305	OMIM:619131	OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21
HP:0002673	HP:0002673	Coxa valga	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent	645
HP:0002673	HP:0002673	Coxa valga	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia		645
HP:0002673	HP:0002673	Coxa valga	0	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome		165
HP:0002673	HP:0002673	Coxa valga	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form		136
HP:0002673	HP:0002673	Coxa valga	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0002673	HP:0002673	Coxa valga	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0002673	HP:0002673	Coxa valga	0	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.	39
HP:0002673	HP:0002673	Coxa valga	0	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2	.	40
HP:0002673	HP:0002673	Coxa valga	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional	32
HP:0002673	HP:0002673	Coxa valga	0	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0002673	HP:0002673	Coxa valga	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.	53
HP:0002673	HP:0002673	Coxa valga	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0002673	HP:0002673	Coxa valga	0	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome		113
HP:0002673	HP:0002673	Coxa valga	0	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2	HP:0040283 - Occasional	6
HP:0002673	HP:0002673	Coxa valga	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0002673	HP:0002673	Coxa valga	0	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome	HP:0040282 - Frequent	10
HP:0002673	HP:0002673	Coxa valga	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0002673	HP:0002673	Coxa valga	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.	65
HP:0002673	HP:0002673	Coxa valga	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0002673	HP:0002673	Coxa valga	0	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis		66
HP:0002673	HP:0002673	Coxa valga	0	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040282 - Frequent	67
HP:0002673	HP:0002673	Coxa valga	0	SIL1 CL E G H	64374	24624	OMIM:248800	Marinesco-Sjogren syndrome	.	67
HP:0002673	HP:0002673	Coxa valga	0	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	.
HP:0002673	HP:0002673	Coxa valga	0	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS		2
HP:0002673	HP:0002673	Coxa valga	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040283 - Occasional	178
HP:0002673	HP:0002673	Coxa valga	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040283 - Occasional	27
HP:0002673	HP:0002673	Coxa valga	0	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome		237
HP:0002673	HP:0002673	Coxa valga	0	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease	HP:0040283 - Occasional	13
HP:0002673	HP:0002673	Coxa valga	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0002673	HP:0002673	Coxa valga	0	TRIP11 CL E G H	9321	12305	ORPHA:166272	Odontochondrodysplasia	HP:0040282 - Frequent	133
HP:0002673	HP:0002673	Coxa valga	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	98
HP:0002673	HP:0002673	Coxa valga	0	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2	HP:0040283 - Occasional	14
HP:0002673	HP:0002673	Coxa valga	0	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome	HP:0040282 - Frequent	14
HP:0002673	HP:0002673	Coxa valga	0	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG	HP:0040282 - Frequent	14
HP:0002673	HP:0002673	Coxa valga	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent	83
HP:0002673	HP:0010665	Bilateral coxa valga	1	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	.
HP:0002673	HP:0010665	Bilateral coxa valga	1	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh		39
HP:0002673	HP:0010665	Bilateral coxa valga	1	COL9A1 CL E G H	1297	2217	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040283 - Occasional	110
HP:0002673	HP:0010665	Bilateral coxa valga	1	COL9A2 CL E G H	1298	2218	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040283 - Occasional	110
HP:0002673	HP:0010665	Bilateral coxa valga	1	COL9A3 CL E G H	1299	2219	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040283 - Occasional	137
HP:0002673	HP:0010665	Bilateral coxa valga	1	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome		199
HP:0002673	HP:0010665	Bilateral coxa valga	1	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040282 - Frequent	165
HP:0002673	HP:0010665	Bilateral coxa valga	1	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional	136
HP:0002673	HP:0010665	Bilateral coxa valga	1	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040283 - Occasional	113
HP:0002673	HP:0010665	Bilateral coxa valga	1	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040282 - Frequent	237
HP:0002673	HP:0010665	Bilateral coxa valga	1	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85

Genes (85) :ABCC9 ADAMTS2 ADAMTSL2 AFF3 ARCN1 ARID1B ATP7A ATRX B3GALT6 B4GALT7 BCR BGN CANT1 CCDC47 COG1 COG4 COG8 COL11A1 COL1A1 COL1A2 COL2A1 COL9A1 COL9A2 COL9A3 CRKL CSGALNACT1 DLK1 DVL1 DVL3 EED EIF2AK3 ENPP1 ERCC6 EXT1 EXT2 EXTL3 EZH2 FLNA FUCA1 FZD2 GALNS GJB2 GJB6 GLB1 GLI3 GNPTAB GTF2E2 HNRNPH1 HNRNPR HSPG2 IDUA IFIH1 INPP5K KCNJ8 KDELR2 LMNA LMX1B MAN2B1 MAPK1 MEG3 MGAT2 NFIX NGLY1 NRCAM ORC1 OTUD5 PDE4D POP1 RAB23 RBM8A RPS6KA3 RTL1 SHOX SIL1 SLC10A7 SLC12A2 SLC2A10 SLC35A2 STXBP1 TGFB1 TGFB3 TRIP11 WNT5A XYLT1 ZMPSTE24

Diseases (82) :OMIM:239850 ORPHA:1517 ORPHA:1901 OMIM:231050 OMIM:619297 OMIM:617164 OMIM:135900 ORPHA:198 OMIM:304150 OMIM:301040 OMIM:271640 OMIM:130070 ORPHA:261330 OMIM:300106 OMIM:251450 ORPHA:1425 OMIM:618268 ORPHA:263508 OMIM:618150 OMIM:611182 OMIM:154780 ORPHA:1899 OMIM:132450 OMIM:616583 ORPHA:166002 ORPHA:96334 ORPHA:3107 OMIM:617561 OMIM:226980 OMIM:613312 OMIM:214150 OMIM:278800 ORPHA:321 OMIM:617425 OMIM:277590 OMIM:305620 ORPHA:2484 OMIM:309350 OMIM:311300 OMIM:230000 OMIM:253000 ORPHA:477 OMIM:230600 OMIM:253010 ORPHA:93322 OMIM:252500 OMIM:616943 OMIM:620083 OMIM:620073 ORPHA:800 OMIM:255800 OMIM:607014 OMIM:182250 ORPHA:559 OMIM:619131 ORPHA:740 OMIM:248370 ORPHA:495818 ORPHA:309282 OMIM:212066 OMIM:614753 ORPHA:404454 OMIM:619833 OMIM:224690 OMIM:301056 ORPHA:439822 OMIM:617396 OMIM:201000 ORPHA:3320 OMIM:274000 OMIM:303600 OMIM:127300 OMIM:248800 OMIM:618363 OMIM:619080 ORPHA:3342 ORPHA:356961 ORPHA:1328 OMIM:615582 ORPHA:166272 OMIM:615777 ORPHA:370930

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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