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Human Disease

autosomal dominant Emery-Dreifuss muscular dystrophy 7

Term ID
DOID:0070252
Synonyms
  • EDMD7
  • Emery-Dreifuss muscular dystrophy 7, autosomal dominant
Definition
An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the TMEM43 gene on chromosome 3p25.1. https://www.ncbi.nlm.nih.gov/pubmed/21391237
References
Ontology
Human Disease   ( DOID:0070252 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models