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
..Imperforate hymen (HP:0030011)

Term ID:

30011

Name:

Imperforate hymen

Synonym:

Definition:

A congenital disorder where the hymen (a membrane that surrounds or partially covers the external vaginal opening) does not have an opening and completely obstructs the vagina.

Comments:

Reference:

HP:0030011

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia/Hypoplasia of the vagina (HP:0011026)

Blind vagina (HP:0040314)

Hydrocolpos (HP:0030711)

Hydrometrocolpos (HP:0030010)

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:0030011	HP:0030011	Imperforate hymen	0	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1	.	147
HP:0030011	HP:0030011	Imperforate hymen	0	RIPK4 CL E G H	54101	496	ORPHA:1401	CHAND syndrome	HP:0040282 - Frequent	69
HP:0030011	HP:0030011	Imperforate hymen	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.	100
HP:0030011	HP:0030011	Imperforate hymen	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC

Genes (4) :ARHGAP31 RIPK4 TBX3 ZMYM2

Diseases (4) :OMIM:100300 ORPHA:1401 OMIM:181450 OMIM:619522

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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