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Metadata
ID DOID:0110306
Name autosomal dominant limb-girdle muscular dystrophy type 3
Definition An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the HNRNPDL gene on chromosome 4q21.
https://www.ncbi.nlm.nih.gov/pubmed/24647604
Xrefs

ICD10CM:G71.0

OMIM:609115

ORDO:55596

Subsets

DO_rare_slim

Synonyms

autosomal dominant limb-girdle muscular dystrophy type 1G [EXACT]

LGMD1G [EXACT]

muscular dystrophy limb-girdle type 1G [EXACT]

Parent Relationships

is_a autosomal dominant limb-girdle muscular dystrophy

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