X-linked Emery-Dreifuss muscular dystrophy 1

Summary

DOID:0070246 - X-linked Emery-Dreifuss muscular dystrophy 1

Disease Ontology Definition:An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of EMD on chromosome Xq28.

Synonyms: EDMD1, EMD1, Emery-Dreifuss muscular dystrophy 1, X-linked, humeroperoneal neuromuscular disease, muscular dystrophy, tardive, Dreifuss-Emery type, with contractures, scapuloperoneal syndrome, X-linked

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): Emery-Dreifuss muscular dystrophy (is_a), X-linked recessive disease (is_a)