autosomal recessive Emery-Dreifuss muscular dystrophy 3

Summary

DOID:0070248 - autosomal recessive Emery-Dreifuss muscular dystrophy 3

Disease Ontology Definition:An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of the LMNA gene on chromosome 1q22.

Synonyms: EDMD3, Emery-Dreifuss muscular dystrophy 3, autosomal recessive

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:616516 - EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AUTOSOMAL RECESSIVE; EDMD3

MIM:616516 - EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AUTOSOMAL RECESSIVE; EDMD3

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

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

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