Search Ontology:
Human Disease

X-linked Emery-Dreifuss muscular dystrophy 1

Term ID
DOID:0070246
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 Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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