OBO ID: DOID:0090017
Term Name: epidermolysis bullosa simplex with muscular dystrophy Search Ontology:
Synonyms:
  • epidermolysis bullosa simplex and limb-girdle muscular dystrophy
  • limb-girdle muscular dystrophy with epidermolysis bullosa simplex
Definition: An syndrome characterized by early childhood onset of progressive muscular dystrophy and blistering skin changes and that has_material_basis_in homozygous or compound heterozygous mutation in the PLEC gene on chromosome 8q24. (2)
References:
Ontology: Human Disease   (DOID:0090017)
OTHER epidermolysis bullosa simplex with muscular dystrophy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PLEC Epidermolysis bullosa simplex 5B, with muscular dystrophy 226670
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None