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
..Aplasia of the vagina (HP:0003250)

Term ID:

3250

Name:

Aplasia of the vagina

Synonym:

Absent vagina; Congenital absence of the vagina

Definition:

Aplasia of the vagina.

Comments:

Reference:

HP:0003250

Genes and Diseases:

Child Nodes:

........

Aplasia of the upper vagina (HP:0012673)

........

Aplasia of the lower vagina (HP:0012674)

Sister Nodes:

Hypoplasia of the vagina (HP:0008726)

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:0003250	HP:0003250	Aplasia of the vagina	0	GATA3 CL E G H	2625	4172	OMIM:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia		83
HP:0003250	HP:0003250	Aplasia of the vagina	0	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1	.	59
HP:0003250	HP:0003250	Aplasia of the vagina	0	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome	HP:0040283 - Occasional	13
HP:0003250	HP:0003250	Aplasia of the vagina	0	WNT4 CL E G H	54361	12783	OMIM:158330	Mullerian aplasia and hyperandrogenism	HP:0040281 - Very frequent	4
HP:0003250	HP:0012673	Aplasia of the upper vagina	1	CL E G H
HP:0003250	HP:0012674	Aplasia of the lower vagina	1	CL E G H

Genes (4) :GATA3 PAX3 PPP2R1A WNT4

Diseases (4) :OMIM:146255 OMIM:193500 ORPHA:457284 OMIM:158330

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