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Metadata
ID DOID:0110290
Name autosomal recessive limb-girdle muscular dystrophy type 2X
Definition An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the BVES gene on chromosome 6q21.
https://www.ncbi.nlm.nih.gov/pubmed/26642364
Xrefs

OMIM:616812

ORDO:476084

Synonyms

LGMD2X [EXACT]

muscular dystrophy, limb-girdle, type 2X [EXACT]

Parent Relationships

is_a autosomal recessive limb-girdle muscular dystrophy

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