Preferred Label : Emery-dreifuss muscular dystrophy 2, autosomal dominant;
Symbol : EDMD2;
CISMeF acronym : EDMD2; EMD2; LGMD1B;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Emery-dreifuss muscular dystrophy, autosomal dominant; Hauptmann-thannhauser muscular dystrophy; Muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant; EMD2; Scapuloilioperoneal atrophy with cardiopathy; Muscular dystrophy, proximal, type 1b; Cardiomyopathy, dilated, with quadriceps myopathy; LGMD1B; Muscular dystrophy, limb-girdle, type 1b;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the lamin A/C gene (LMNA, 150330.0001);
Laboratory abnormalities : Moderately increased serum creatine kinase;
Prefixed ID : #181350;
Origin ID : 181350;
UMLS CUI : C0410190;
Automatic exact mappings (from CISMeF team)
Broader ORDO disease(s)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
See also inter- (CISMeF)
Semantic type(s)
UMLS correspondences (same concept)
Validated automatic mappings to NTBT