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Human Disease

autosomal dominant Emery-Dreifuss muscular dystrophy 4

Term ID
DOID:0070249
Synonyms
  • EDMD4
  • Emery-Dreifuss muscular dystrophy 4 with variable features
  • Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Definition
An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE1 gene on chromosome 6q25.2. https://www.ncbi.nlm.nih.gov/pubmed/17761684
References
Ontology
Human Disease   ( DOID:0070249 )
Relationships
is a type of
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Genes Involved
Zebrafish Models