Epidermodysplasia verruciformis, susceptibility to, 2

Preferred Label : Epidermodysplasia verruciformis, susceptibility to, 2;

Symbol : EV2;

CISMeF acronym : EV2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Susceptibility conferred by mutation in the transmembrane channel-like 8 gene (TMC8, 605829.0001);

Neoplasia : Basal cell carcinoma; Squamous cell carcinoma in situ (Bowen disease);

Prefixed ID : #618231;

Détails

Origin ID

618231;

UMLS CUI

C4722258;

Genes related to phenotype
- Transmembrane channel-like protein 8 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Persistent human papillomavirus infection [HPO term]
- Squamous cell carcinoma of the skin [HPO term]
- Verruca plana [HPO term]
ORDO concept(s)
- Epidermodysplasia verruciformis [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]
Validated automatic mappings to NTBT
- Epidermodysplasia verruciformis [ORDO Disease]

Position du mot-clé dans l'(les) arborescence(s) :

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