Search Ontology:
Human Disease

centronuclear myopathy X-linked

Term ID
DOID:0111225
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
  • MIM:310400
  • NCI:C118781
  • ORDO:596
  • SNOMEDCT_US_2023_03_01:46804001
  • UMLS_CUI:C0410203
Ontology
Human Disease   ( DOID:0111225 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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