Term Name: | autosomal recessive limb-girdle muscular dystrophy type 2O |
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Synonyms: | LGMD2O, MDDGC3, muscular dystrophy-dystroglycanopathy (limb-girdle) type C3, muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related |
Definition: | An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34. |
Ontology: | Human Disease [DOID:0110292] ( DOID:0110292 ) |