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DOID:0070250 - autosomal dominant Emery-Dreifuss muscular dystrophy 5
Disease Ontology Definition:An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE2 gene on chromosome 14q23.2.
Synonyms: EDMD5, Emery-Dreifuss muscular dystrophy 5, autosomal dominant,
Xenbase Genes : syne2, syne2.2
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee