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Human Disease

autosomal dominant Emery-Dreifuss muscular dystrophy 5

Term ID
DOID:0070250
Synonyms
  • EDMD5
  • Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Definition
An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE2 gene on chromosome 14q23.2. https://www.ncbi.nlm.nih.gov/pubmed/17761684
References
Ontology
Human Disease   ( DOID:0070250 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models