Term Name: autosomal recessive limb-girdle muscular dystrophy type 2T
Synonyms: LGMD2T, MDDGC14, muscular dystrophy limb-girdle type 2T, muscular dystrophy-dystroglycanopathy (limb-girdle) type C14, muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related
Definition: An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene encoding the beta subunit of GDP-mannose pyrophosphorylase on chromosome 3p21.
Ontology: Human Disease [DOID:0110294]   ( DOID:0110294 )

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