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Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant (MONDO:0021569)

Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene.

Overview

Category

Ontology ID

Internal:20668

Synonyms

EDMD2

Emery-Dreifuss muscular dystrophy 2, autosomal dominant

Hauptmann-Thannhauser muscular dystrophy

LGMD1B

LMNA autosomal dominant limb-girdle muscular dystrophy

autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA

limb-girdle muscular dystrophy due to lamin A/C deficiency

muscular dystrophy, limb-girdle type 1B

proximal muscular dystrophy type 1B

EMD2

Emery-Dreifuss muscular dystrophy, autosomal dominant

benign scapuloperoneal muscular dystrophy with cardiomyopathy

limb-girdle muscular dystrophy type 1B

muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant

muscular dystrophy, limb-girdle, type 1B

muscular dystrophy, proximal, type 1B

scapuloilioperoneal atrophy with cardiopathy

Mapped terms

DOID:0070247

DOID:0110301

GARD:0010230

ICD9:425.4

MEDGEN:98048

MESH:C535898

NCIT:C126745

OMIM:159001

OMIM:181350

Orphanet:264

SCTID:240072005

SCTID:718178006

UMLS:C0410190

Child terms

Unknown children.