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epidermolysis bullosa simplex with muscular dystrophy

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy.
Uniprot Description A form of epidermolysis bullosa characterized by the association of blister formation at the level of the hemidesmosome with late-onset muscular dystrophy.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0009181:  epidermolysis bullosa simplex with muscular dystrophy
GARD:0002137: 
MESH:C535955: 
Orphanet:257: 
SCTID:723308003: 
UMLS:C2931072: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)