autosomal recessive limb-girdle muscular dystrophy type 2K Disease Ontology Browser

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Disease Ontology Browser

autosomal recessive limb-girdle muscular dystrophy type 2K (DOID:0110297)
Alliance: disease page
Synonyms: LGMD2K; limb-girdle muscular dystrophy-intellectual disability syndrome; MDDGC1; muscular dystrophy limb-girdle type 2K; muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1
Alt IDs: OMIM:609308, ICD10CM:G71.0, ORDO:86812
Definition: An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1).

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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