OBO ID: DOID:0070252
Term Name: autosomal dominant Emery-Dreifuss muscular dystrophy 7 Search Ontology:
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 autosomal dominant Emery-Dreifuss muscular dystrophy 7 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TMEM43 Emery-Dreifuss muscular dystrophy 7, AD 614302
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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