Epidermolysis bullosa simplex 2a, generalized severe

Preferred Label : Epidermolysis bullosa simplex 2a, generalized severe;

Symbol : EBS2A;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Epidermolysis bullosa simplex 2a, dowling-meara type;

Prefixed ID : #619555;

Details

Origin ID

619555;

UMLS CUI

C4016235;

Genes related to phenotype
- Keratin 5, type II [OMIM gene]
HPO term(s)
- Abnormal blistering of the skin [HPO term]
- Autosomal dominant inheritance [HPO term]
- Congenital onset [HPO term]
- Intra-epidermal blistering [HPO term]
- Neonatal onset [HPO term]
- Oral mucosal blisters [HPO term]
- Palmoplantar blistering [HPO term]
- Palmoplantar hyperkeratosis [HPO term]
- Tonofilament clumping [HPO term]
ORDO concept(s)
- Autosomal dominant generalized epidermolysis bullosa simplex, severe form [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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