autosomal dominant Emery-Dreifuss muscular dystrophy 7

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Summary

Literature (0)

DOID:0070252 - autosomal dominant Emery-Dreifuss muscular dystrophy 7

Disease Ontology Definition:An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the TMEM43 gene on chromosome 3p25.1.

Synonyms: EDMD7, Emery-Dreifuss muscular dystrophy 7, 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

: tmem43

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)