OBO ID: DOID:0070250
Term Name: autosomal dominant Emery-Dreifuss muscular dystrophy 5 Search Ontology:
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 autosomal dominant Emery-Dreifuss muscular dystrophy 5 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SYNE2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant 612999
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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