Term Name: autosomal recessive limb-girdle muscular dystrophy type 2I
Synonyms: LGMD2I, Limb-girdle muscular dystrophy due to FKRP deficiency, MDDGC5, muscular dystrophy limb-girdle type 2I, muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5, muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related
Definition: An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin-related protein (FKRP) on chromosome 19q13.3.
Ontology: Human Disease [DOID:0110299]   ( DOID:0110299 )

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