autosomal dominant Emery-Dreifuss muscular dystrophy 4

Summary

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, autosomal dominant, Emery-Dreifuss muscular dystrophy 4 with variable features

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

: syne1

MIM:

MIM:612998 - EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT; EDMD4

MIM:612998 - EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT; EDMD4

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)