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
..Longitudinal vaginal septum (HP:0008740)

Term ID:

8740

Name:

Longitudinal vaginal septum

Synonym:

Vertical vaginal septum

Definition:

The presence of a longitudinal vaginal septum, thereby creating a vaginal duplication.

Comments:

Reference:

HP:0008740

Genes and Diseases:

Child Nodes:

Sister Nodes:

Partial vaginal septum (HP:0008670)

Transverse vaginal septum (HP:0000145)

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:0008740	HP:0008740	Longitudinal vaginal septum	0	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome	.	11

Genes (1) :HOXA13

Diseases (1) :OMIM:140000

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