Candidiasis, familial, 4

Preferred Label : Candidiasis, familial, 4;

Symbol : CANDF4;

CISMeF acronym : CANDF4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Candidiasis, familial chronic mucocutaneous;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the C-type lectin domain family 7, member A gene (CLEC7A, 606264.0001);

Prefixed ID : #613108;

Details

Origin ID

613108;

UMLS CUI

C0341024;

Automatic exact mappings (from CISMeF team)
- CLEC7A wt Allele [NCIt concept]
- Candidiasis familial chronic mucocutaneous, autosomal recessive [MeSH concept]
- Familial chronic mucocutaneous candidiasis (disorder) [SNOMED CT concept]
- candidiasis familial chronic mucocutaneous, autosomal recessive [MeSH Supplementary Concept]
DO Cross reference
- chronic mucocutaneous candidiasis [DO Concept]
Genes related to phenotype
- C-type lectin domain family 7, member a [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Onychomycosis [HPO term]
- Recurrent vulvovaginal candidiasis [HPO term]
ORDO concept(s)
- Chronic mucocutaneous candidiasis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial chronic mucocutaneous candidiasis (disorder) [SNOMED CT concept]

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