epidermolysis bullosa simplex with muscular dystrophy (Q5382849)
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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
- 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
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | epidermolysis bullosa simplex with muscular dystrophy |
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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