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Disease Ontology Browser
autosomal recessive limb-girdle muscular dystrophy type 2Z (DOID:0080762)
Alliance: disease page
Synonyms: limb-girdle muscular dystrophy 21
Alt IDs: OMIM:617232, ORDO:480682
Definition: An autosomal recessive limb-girdle muscular dystrophy that is characterized by young-adult onset of slowly progressive proximal upper and lower limb muscle weakness and atrophy and that has_material_basis_in homozygous mutation in the POGLUT1 gene on chromosome 3q13.

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
MGI 6.24 		The Jackson Laboratory