Search Ontology:
Human Disease

centronuclear myopathy

Term ID
DOID:14717
Synonyms
  • myotubular myopathy
Definition
A congenital structural myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery. (2)
References
  • GARD:101
  • ICD10CM:G71.22
  • MESH:D020914
  • NCI:C84648
  • ORDO:595
  • ORDO:596
  • ORDO:69186
  • ORDO:69189
  • SNOMEDCT_US_2023_03_01:193223007
  • UMLS_CUI:C0175709
Ontology
Human Disease   ( DOID:14717 )
Relationships
is a type of
has subtype
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Genes Involved
Zebrafish Models
Citations