Epidermodysplasia verruciformis, susceptibility to, 3

Preferred Label : Epidermodysplasia verruciformis, susceptibility to, 3;

Symbol : EV3;

CISMeF acronym : EV3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the calcium- and integrin-binding protein-1 gene (CIB1, 602293.0001);

Neoplasia : Squamous cell carcinoma (mostly on sun-exposed areas); Basal cell carcinoma;

Prefixed ID : #618267;

Details

Origin ID

618267;

UMLS CUI

C4748876;

Genes related to phenotype
- Calcium- and integrin-binding protein 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Basal cell carcinoma [HPO term]
- Epidermal acanthosis [HPO term]
- Palmar pits [HPO term]
- Squamous cell carcinoma [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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