Epidermolysis bullosa simplex 5d, generalized intermediate, autosomal recessive

Preferred Label : Epidermolysis bullosa simplex 5d, generalized intermediate, autosomal recessive;

Symbol : EBS5D;

CISMeF acronym : EBSND;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : EBSND; Epidermolysis bullosa simplex with nail dystrophy; Epidermolysis bullosa simplex 5d, with nail dystrophy;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the plectin-1 gene (PLEC1, 601282.0014);

Prefixed ID : #616487;

Details

Origin ID

616487;

UMLS CUI

C4225309;

Genes related to phenotype
- Plectin [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Nail dystrophy [HPO term]
- Plantar hyperkeratosis [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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