Epidermodysplasia verruciformis, susceptibility to, 5

Preferred Label : Epidermodysplasia verruciformis, susceptibility to, 5;

Symbol : EV5;

CISMeF acronym : EV5;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Susceptibility conferred by mutation in the interleukin 7 gene (IL7, 146660.0001);

Neoplasia : Increased risk of squamous cell skin cancer on sun-exposed areas;

Prefixed ID : #618309;

Details

Origin ID

618309;

UMLS CUI

C4749043;

Genes related to phenotype
- Interleukin 7 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cryptococcal meningitis [HPO term]
- Lymphopenia [HPO term]
- Persistent human papillomavirus infection [HPO term]
- Squamous cell carcinoma of the skin [HPO term]
- T lymphocytopenia [HPO term]
- Verrucae [HPO term]
ORDO concept(s)
- Epidermodysplasia verruciformis [ORDO Disease]
See also inter- (CISMeF)
- Epidermodysplasia verruciformis [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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