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 morphology of female internal genitalia (HP:0000008)

Parent Node:
Abnormal vagina morphology (HP:0000142)

..Starting node
..Blind vagina (HP:0040314)

Term ID:

40314

Name:

Blind vagina

Synonym:

Blind-ended vagina

Definition:

The vagina ends in a blind pouch or sac rather than being connected to the internal genitalia.

Comments:

Reference:

HP:0040314

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia/Hypoplasia of the vagina (HP:0011026)

Hydrocolpos (HP:0030711)

Hydrometrocolpos (HP:0030010)

Imperforate hymen (HP:0030011)

Septate vagina (HP:0001153)

Urogenital sinus anomaly (HP:0100779)

Vaginal adenosis (HP:0025485)

Vaginal atresia (HP:0000148)

Vaginal dryness (HP:0031088)

Vaginal fistula (HP:0004320)

Vaginal hernia (HP:0100672)

Vaginal neoplasm (HP:0100650)

Vaginal pruritus (HP:0030161)

Vaginal stricture (HP:0025416)

Vaginitis (HP:0030683)

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:0040314	HP:0040314	Blind vagina	0	AR CL E G H	367	644	OMIM:300068	Androgen insensitivity syndrome	.	125
HP:0040314	HP:0040314	Blind vagina	0	AR CL E G H	367	644	ORPHA:99429	Complete androgen insensitivity syndrome	HP:0040281 - Very frequent	125
HP:0040314	HP:0040314	Blind vagina	0	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome	HP:0040283 - Occasional	125
HP:0040314	HP:0040314	Blind vagina	0	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	HP:0040283 - Occasional	53
HP:0040314	HP:0040314	Blind vagina	0	MAMLD1 CL E G H	10046	2568	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome	HP:0040282 - Frequent	5
HP:0040314	HP:0040314	Blind vagina	0	MTM1 CL E G H	4534	7448	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome	HP:0040282 - Frequent	185
HP:0040314	HP:0040314	Blind vagina	0	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177

Genes (5) :AR CYP17A1 MAMLD1 MTM1 WT1

Diseases (6) :OMIM:300068 ORPHA:99429 ORPHA:90797 ORPHA:90793 ORPHA:456328 OMIM:608978

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