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ZIRC
OBO ID: DOID:11723
Term Name: Duchenne muscular dystrophy Search Ontology:
Synonyms:
  • Muscular dystrophy, Duchenne
Definition: A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy. (3)
References:
  • GARD:6291
  • MESH:D020388
  • MTHICD9_2006:359.1
  • NCI:C75482
  • OMIM:310200
  • SNOMEDCT_US_2018_03_01:76670001
  • UMLS_CUI:C0013264
Ontology: Human Disease   (DOID:11723)
OTHER Duchenne muscular dystrophy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DMD Duchenne muscular dystrophy 310200
PHENOTYPE No data available

CITATIONS (12)