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DOID:0110297 - autosomal recessive limb-girdle muscular dystrophy type 2K
Disease Ontology 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).
Synonyms: LGMD2K, MDDGC1, limb-girdle muscular dystrophy-intellectual disability syndrome, muscular dystrophy limb-girdle type 2K, muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1,
Xenbase Genes : pomt1
MONDO:0012248 - autosomal recessive limb-girdle muscular dystrophy type 2K |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee