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 vagina morphology (HP:0000142)

Parent Node:
Aplasia/Hypoplasia of the vagina (HP:0011026)

..Starting node
..Hypoplasia of the vagina (HP:0008726)

Term ID:

8726

Name:

Hypoplasia of the vagina

Synonym:

Hypoplastic vagina; Rudimentary vagina; Underdeveloped vagina

Definition:

Developmental hypoplasia of the vagina.

Comments:

Reference:

HP:0008726

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia of the vagina (HP:0003250)

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:0008726	HP:0008726	Hypoplasia of the vagina	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0008726	HP:0008726	Hypoplasia of the vagina	0	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	HP:0040282 - Frequent	2
HP:0008726	HP:0008726	Hypoplasia of the vagina	0	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency	.	112
HP:0008726	HP:0008726	Hypoplasia of the vagina	0	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	HP:0040282 - Frequent	53
HP:0008726	HP:0008726	Hypoplasia of the vagina	0	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0008726	HP:0008726	Hypoplasia of the vagina	0	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	1
HP:0008726	HP:0008726	Hypoplasia of the vagina	0	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	87
HP:0008726	HP:0008726	Hypoplasia of the vagina	0	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome	.	99
HP:0008726	HP:0008726	Hypoplasia of the vagina	0	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	13
HP:0008726	HP:0008726	Hypoplasia of the vagina	0	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	48
HP:0008726	HP:0008726	Hypoplasia of the vagina	0	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	38
HP:0008726	HP:0008726	Hypoplasia of the vagina	0	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	109
HP:0008726	HP:0008726	Hypoplasia of the vagina	0	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	23
HP:0008726	HP:0008726	Hypoplasia of the vagina	0	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0008726	HP:0008726	Hypoplasia of the vagina	0	WNT4 CL E G H	54361	12783	ORPHA:3109	Mayer-Rokitansky-Küster-Hauser syndrome	HP:0040281 - Very frequent	4
HP:0008726	HP:0008726	Hypoplasia of the vagina	0	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	177
HP:0008726	HP:0008726	Hypoplasia of the vagina	0	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	149
HP:0008726	HP:0008726	Hypoplasia of the vagina	0	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	31

Genes (18) :B3GLCT CYB5A CYP11B1 CYP17A1 DHX37 DMRT3 GATA4 IRF6 MAP3K1 NR0B1 NR5A1 SOX9 SRY VAMP7 WNT4 WT1 WWOX ZFPM2

Diseases (6) :OMIM:261540 ORPHA:90796 OMIM:202010 ORPHA:251510 OMIM:119500 ORPHA:3109

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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