OBO ID: DOID:0111225
Term Name: centronuclear myopathy X-linked Search Ontology:
Synonyms:
  • CNMX
  • MTM1
  • myotubular myopathy 1
  • X-linked myotubular myopathy
  • XLCNM
  • XLMTM
Definition: A centronuclear myopathy that has_material_basis_in X-linked inheritance of mutations in MTM1 on Xq28. https://www.ncbi.nlm.nih.gov/pubmed/8640223
References:
  • GARD:11925
  • ICD10CM:G71.220
  • MESH:D020914
  • NCI:C118781
  • OMIM:310400
  • ORDO:596
  • SNOMEDCT_US_2023_03_01:46804001
  • UMLS_CUI:C0410203
Ontology: Human Disease   ( DOID:0111225 )
OTHER centronuclear myopathy X-linked PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MTM1 Myopathy, centronuclear, X-linked 310400
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None