epidermolysis bullosa simplex with muscular dystrophy (Q5382849)
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
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aliases epidermolysis bullosa simplex and limb-girdle muscular dystrophy
 limb-girdle muscular dystrophy with epidermolysis bullosa simplex
 Md-Ebs
 EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY; EBSMD
 Epidermolysa bullosa simplex and limb girdle muscular dystrophy
 MDEBS
 Epidermolysa bullosa simplex with muscular dystrophy
 EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY
 Epidermolysis bullosa simplex - limb girdle muscular dystrophy
 EBS-MD
 EBSMD
description 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

External Links
(P486) C535955
(P492) 226670
(P699) DOID:0090017
(P1550) 257
(P2892) C2931072
(P4229) Q81.0
(P4317) 2137
(P5270) MONDO_0009181
(P7807) 1570061817