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Metadata
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

ICD10CM:G71.0

OMIM:603511

ORDO:34517

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

is_a autosomal dominant limb-girdle muscular dystrophy

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