Term Name: autosomal recessive limb-girdle muscular dystrophy type 2U
Synonyms: autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency, LGMD2U, MDDGC7, muscular dystrophy limb-girdle type 2U, muscular dystrophy-dystroglycanopathy (limb-girdle) type C7
Definition: An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the ISPD gene on chromosome 7p21.
Ontology: Human Disease [DOID:0110295]   ( DOID:0110295 )

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