OBO ID: DOID:0070247
Term Name: autosomal dominant Emery-Dreifuss muscular dystrophy 2 Search Ontology:
Synonyms:
  • autosomal dominant limb-girdle muscular dystrophy type 1B
  • EDMD2
  • EMD2
  • Emery-Dreifuss muscular dystrophy 2, autosomal dominant
  • Emery-Dreifuss muscular dystrophy, autosomal dominant
  • Hauptmann-Thannhauser muscular dystrophy
  • muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant
  • scapuloilioperoneal atrophy with cardiopathy
Definition: An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of LMNA on chromosome 1q22. (3)
References:
Ontology: Human Disease   (DOID:0070247)
OTHER autosomal dominant Emery-Dreifuss muscular dystrophy 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
LMNA Emery-Dreifuss muscular dystrophy 2, autosomal dominant 181350
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None