Human Phenotype Ontology

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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 morphology (HP:0003367)

Parent Node:
Coxa valga (HP:0002673)

..Starting node
..Bilateral coxa valga (HP:0010665)

Term ID:

10665

Name:

Bilateral coxa valga

Synonym:

Definition:

The presence of bilateral coxa valga.

Comments:

Reference:

HP:0010665

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0010665	HP:0010665	Bilateral coxa valga	0	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	.
HP:0010665	HP:0010665	Bilateral coxa valga	0	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh		39
HP:0010665	HP:0010665	Bilateral coxa valga	0	COL9A1 CL E G H	1297	2217	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040283 - Occasional	110
HP:0010665	HP:0010665	Bilateral coxa valga	0	COL9A2 CL E G H	1298	2218	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040283 - Occasional	110
HP:0010665	HP:0010665	Bilateral coxa valga	0	COL9A3 CL E G H	1299	2219	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040283 - Occasional	137
HP:0010665	HP:0010665	Bilateral coxa valga	0	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome		199
HP:0010665	HP:0010665	Bilateral coxa valga	0	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040282 - Frequent	165
HP:0010665	HP:0010665	Bilateral coxa valga	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional	136
HP:0010665	HP:0010665	Bilateral coxa valga	0	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040283 - Occasional	113
HP:0010665	HP:0010665	Bilateral coxa valga	0	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040282 - Frequent	237
HP:0010665	HP:0010665	Bilateral coxa valga	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85

Genes (11) :CCDC47 COG8 COL9A1 COL9A2 COL9A3 ERCC6 LMX1B MAN2B1 PDE4D STXBP1 TGFB3

Diseases (8) :OMIM:618268 OMIM:611182 ORPHA:166002 OMIM:278800 ORPHA:495818 ORPHA:309282 ORPHA:439822 OMIM:615582

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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