Term Name: autosomal recessive limb-girdle muscular dystrophy type 2O
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 )

Relationships
is a type of: autosomal recessive limb-girdle muscular dystrophy