Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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:
Hernia (HP:0100790)

Parent Node:
Abnormal vagina morphology (HP:0000142)

Parent Node:
Genital hernia (HP:0100823)

..Starting node
..Vaginal hernia (HP:0100672)

Term ID:

100672

Name:

Vaginal hernia

Synonym:

Definition:

The presence of a hernia of the vagina.

Comments:

Reference:

HP:0100672

Genes and Diseases:

Child Nodes:

........

Cystocele (HP:0100645)

........

Urethrocele (HP:0100821)

........

Rectocele (HP:0100822)

Sister Nodes:

Uterine prolapse (HP:0000139)

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:0100672	HP:0100672	Vaginal hernia	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0100672	HP:0100672	Vaginal hernia	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0100672	HP:0100672	Vaginal hernia	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0100672	HP:0100822	Rectocele	1	CL E G H
HP:0100672	HP:0100821	Urethrocele	1	CL E G H
HP:0100672	HP:0100645	Cystocele	1	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type	.	749
HP:0100672	HP:0100645	Cystocele	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional	749
HP:0100672	HP:0100645	Cystocele	1	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260

Genes (2) :COL3A1 SMAD3

Diseases (3) :OMIM:130050 ORPHA:286 OMIM:613795

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