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Metadata
DOID DOID:0090017
Name epidermolysis bullosa simplex with muscular dystrophy
Definition An autosomal recessive disease characterized 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.
https://www.ncbi.nlm.nih.gov/pubmed/2662909, https://www.ncbi.nlm.nih.gov/pubmed/8696340
Synonyms

epidermolysis bullosa simplex and limb-girdle muscular dystrophy [EXACT]

limb-girdle muscular dystrophy with epidermolysis bullosa simplex [EXACT]

Xrefs

ICD10CM:Q81.0

OMIM:226670

ORDO:257

Relationships

is_a autosomal recessive disease

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