Epidermolysis bullosa simplex 2b, generalized intermediate

Preferred Label : Epidermolysis bullosa simplex 2b, generalized intermediate;

Symbol : EBS2B;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Epidermolysis bullosa simplex 2b, koebner type;

Prefixed ID : #619588;

Details

Origin ID

619588;

UMLS CUI

C5562009;

Genes related to phenotype
- Keratin 5, type II [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Congenital onset [HPO term]
- Palmoplantar blistering [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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