Visualize Submit Comment

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 MIM: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