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autosomal recessive limb-girdle muscular dystrophy type 2U (DOID:0110295)
Alliance: disease page
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
Alt IDs: OMIM:616052, ICD10CM:G71.0, ORDO:352479
Definition: An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the ISPD gene on chromosome 7p21.

Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/05/2024
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