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:
Septate vagina (HP:0001153)

..Starting node
..Transverse vaginal septum (HP:0000145)

Term ID:

145

Name:

Transverse vaginal septum

Synonym:

Transverse vaginal membrane

Definition:

Comments:

Reference:

HP:0000145

Genes and Diseases:

Child Nodes:

Sister Nodes:

Longitudinal vaginal septum (HP:0008740)

Partial vaginal septum (HP:0008670)

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:0000145	HP:0000145	Transverse vaginal septum	0	MKKS CL E G H	8195	7108	OMIM:236700	Mckusick-Kaufman syndrome	.	69
HP:0000145	HP:0000145	Transverse vaginal septum	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.	140

Genes (2) :MKKS TP63

Diseases (2) :OMIM:236700 OMIM:604292

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