OBO ID: DOID:0070249
Term Name: autosomal dominant Emery-Dreifuss muscular dystrophy 4 Search Ontology:
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:
OTHER autosomal dominant Emery-Dreifuss muscular dystrophy 4 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SYNE1 Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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