autosomal dominant Emery-Dreifuss muscular dystrophy 5

Summary

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 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

: syne2, syne2.2

MIM:

MIM:612999 - EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT; EDMD5

MIM:612999 - EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT; EDMD5

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)