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