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DOID:0070249 - autosomal dominant Emery-Dreifuss muscular dystrophy 4
Disease Ontology Definition:An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE1 gene on chromosome 6q25.2.
Synonyms: EDMD4, Emery-Dreifuss muscular dystrophy 4 with variable features, Emery-Dreifuss muscular dystrophy 4, autosomal dominant,
Xenbase Genes : syne1
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee