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Human Disease

autosomal dominant Emery-Dreifuss muscular dystrophy 2

Term ID
DOID:0070247
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 the LMNA gene on chromosome 1q22. (3)
References
Ontology
Human Disease   ( DOID:0070247 )
Relationships
is a type of
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Genes Involved
Zebrafish Models