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DOID:0112379 - muscular dystrophy-dystroglycanopathy type B4
Disease Ontology Definition:A muscular dystrophy-dystroglycanopathy type B characterized by muscular dystropy resulting from impaired glycosylation of dystroglycan in the absence of intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the FKTN gene on chromosome 9q31.2.
Synonyms: MDDGB4, congenital muscular dystrophy FKTN-related,
Xenbase Genes : fktn
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee