Search Ontology:
Human Disease

epidermolysis bullosa simplex with muscular dystrophy

Term ID
DOID:0090017
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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