Term Name: | autosomal dominant limb-girdle muscular dystrophy type 1 |
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Synonyms: | autosomal dominant limb-girdle muscular dystrophy type 1E, LGMD1D, muscular dystrophy limb-girdle type 1D, muscular dystrophy limb-girdle type 1E |
Definition: | An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the DNAJB6 gene on chromosome 7q36. |
Ontology: | Human Disease [DOID:0110305] ( DOID:0110305 ) |