OBO ID: DOID:0070246
Term Name: X-linked Emery-Dreifuss muscular dystrophy 1 Search Ontology:
Synonyms:
  • EDMD1
  • EMD1
  • Emery-Dreifuss muscular dystrophy 1, X-linked
  • humeroperoneal neuromuscular disease
  • muscular dystrophy, tardive, Dreifuss-Emery type, with contractures
  • scapuloperoneal syndrome, X-linked
Definition: An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of EMD on chromosome Xq28. https://www.ncbi.nlm.nih.gov/pubmed/8042665
References:
Ontology: Human Disease   ( DOID:0070246 )
Relationships
is a type of:
OTHER X-linked Emery-Dreifuss muscular dystrophy 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
EMD Emery-Dreifuss muscular dystrophy 1, X-linked 310300
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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