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Metadata
ID DOID:0110276
Name autosomal recessive limb-girdle muscular dystrophy type 2B
Definition An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the skeletal muscle protein dysferlin (DYSF) on chromosome 2p13.
https://www.ncbi.nlm.nih.gov/pubmed/9731527
Xrefs

ICD10CM:G71.0

OMIM:253601

ORDO:268

Subsets

DO_rare_slim

Synonyms

LGMD2B [EXACT]

LGMD3 [EXACT]

limb-girdle muscular dystrophy due to dysferlin deficiency [EXACT]

limb-girdle muscular dystrophy type 3 [EXACT]

Parent Relationships

is_a autosomal recessive limb-girdle muscular dystrophy

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