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DOID:0070247 - autosomal dominant Emery-Dreifuss muscular dystrophy 2
Disease Ontology Definition:An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22.
Synonyms: EDMD2, EMD2, Emery-Dreifuss muscular dystrophy 2, autosomal dominant, Emery-Dreifuss muscular dystrophy, autosomal dominant, Hauptmann-Thannhauser muscular dystrophy, autosomal dominant limb-girdle muscular dystrophy type 1B, muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant, scapuloilioperoneal atrophy with cardiopathy,
Xenbase Genes : lmna
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee