Metadata | |
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ID | DOID:0110305 |
Name | autosomal dominant limb-girdle muscular dystrophy type 1 |
Definition | An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the DNAJB6 gene on chromosome 7q36. https://www.ncbi.nlm.nih.gov/pubmed/22334415 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
autosomal dominant limb-girdle muscular dystrophy type 1E [EXACT] LGMD1D [EXACT] muscular dystrophy limb-girdle type 1D [EXACT] muscular dystrophy limb-girdle type 1E [EXACT] |
Parent Relationships |