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Summary Literature (0)
DOID:11726 - Emery-Dreifuss muscular dystrophy


Disease Ontology Definition:A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle.

Synonyms: EDMD

Xenbase Genes : syne2, lmna, emd, tmem43, fhl1, syne2.2, syne1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0016830 - Emery-Dreifuss muscular dystrophy

MIM:
MIM:181350 - EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT; EDMD2
MIM:300696 - MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY; XMPMA
MIM:310300 - EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1
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): muscular dystrophy (is_a)