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DOID:0110299 - autosomal recessive limb-girdle muscular dystrophy type 2I
Disease Ontology Definition:An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin-related protein (FKRP) on chromosome 19q13.3.
Synonyms: LGMD2I, Limb-girdle muscular dystrophy due to FKRP deficiency, MDDGC5, muscular dystrophy limb-girdle type 2I, muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5, muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related,
Xenbase Genes : fkrp
MONDO:0011787 - autosomal recessive limb-girdle muscular dystrophy type 2I |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee