autosomal dominant Emery-Dreifuss muscular dystrophy 2

Summary

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: autosomal dominant limb-girdle muscular dystrophy type 1B, EDMD2, EMD2, Emery-Dreifuss muscular dystrophy 2, autosomal dominant, Emery-Dreifuss muscular dystrophy, autosomal dominant, Hauptmann-Thannhauser muscular dystrophy, muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant, scapuloilioperoneal atrophy with cardiopathy

Xenbase 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

: lmna

MIM:

MIM:181350 - EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT; EDMD2

MIM:181350 - EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT; EDMD2

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

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

Parent(s): autosomal dominant disease (is_a), Emery-Dreifuss muscular dystrophy (is_a)