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Metadata
ID DOID:0110284
Name autosomal recessive limb-girdle muscular dystrophy type 2L
Definition An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ANO5 gene on chromosome 11p14.
https://www.ncbi.nlm.nih.gov/pubmed/20096397
Xrefs

ICD10CM:G71.0

OMIM:611307

ORDO:206549

Subsets

DO_rare_slim

Synonyms

LGMD2L [EXACT]

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

Parent Relationships

is_a autosomal recessive limb-girdle muscular dystrophy

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