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Metadata
ID DOID:0110293
Name autosomal recessive limb-girdle muscular dystrophy type 2P
Definition An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding alpha-dystroglycan (DAG1) on chromosome 3p21.
https://www.ncbi.nlm.nih.gov/pubmed/21388311
Xrefs

ICD10CM:G71.0

MIM:613818

ORDO:280333

Subsets

DO_rare_slim

Synonyms

LGMD2P [EXACT]

MDDGC9 [EXACT]

muscular dystrophy-dystroglycanopathy (limb-girdle) type C9 [EXACT]

muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related [EXACT]

Parent Relationships

is_a autosomal recessive limb-girdle muscular dystrophy

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