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:
Recurrent cutaneous fungal infections (HP:0011370)

Grandparent Node:
Recurrent fungal infections (HP:0002841)

Parent Node:
Chronic mucocutaneous candidiasis (HP:0002728)

..Starting node
..Recurrent vulvovaginal candidiasis (HP:0012204)

Term ID:

12204

Name:

Recurrent vulvovaginal candidiasis

Synonym:

Definition:

Recurrent infection involving the vulva, vagina, and adjacent crural areas, whereby the causative agent belongs to the genus Candida.

Comments:

Reference:

HP:0012204

Genes and Diseases:

Child Nodes:

Sister Nodes:

Chronic intestinal candidiasis (HP:0005411)

Chronic oral candidiasis (HP:0009098)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012204	HP:0012204	Recurrent vulvovaginal candidiasis	0	CLEC7A CL E G H	64581	14558	OMIM:613108	CANDIDIASIS, FAMILIAL, 4; CANDF4	3
HP:0012204	HP:0012204	Recurrent vulvovaginal candidiasis	0	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C	89

Genes (2) :CLEC7A STAT1

Diseases (2) :OMIM:613108 OMIM:614162

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