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Summary Literature (0)
DOID:0090017 - epidermolysis bullosa simplex with muscular dystrophy

Disease Ontology 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.

Synonyms: epidermolysis bullosa simplex and limb-girdle muscular dystrophy, limb-girdle muscular dystrophy with epidermolysis bullosa simplex,

Xenbase Genes : plec

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009181 - epidermolysis bullosa simplex 5B, with muscular dystrophy


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), syndrome (is_a)