| Metadata | |
|---|---|
| ID | DOID:0090017 |
| Name | epidermolysis bullosa simplex with muscular dystrophy |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/2662909, https://www.ncbi.nlm.nih.gov/pubmed/8696340 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
epidermolysis bullosa simplex and limb-girdle muscular dystrophy [EXACT] limb-girdle muscular dystrophy with epidermolysis bullosa simplex [EXACT] |
| Parent Relationships |
is_a syndrome |