Epidermolysis bullosa simplex 2c, localized

Preferred Label : Epidermolysis bullosa simplex 2c, localized;

Symbol : EBS2C;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Epidermolysis bullosa simplex 2c, weber-cockayne type;

Prefixed ID : #619594;

Détails

Origin ID

619594;

UMLS CUI

C5562011;

Genes related to phenotype
- Keratin 5, type II [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Congenital onset [HPO term]
- Dystrophic toenail [HPO term]
- Onychomadesis [HPO term]
- Palmoplantar blistering [HPO term]
ORDO concept(s)
- Localized epidermolysis bullosa simplex [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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