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DO Term : centronuclear myopathy [DOID:14717] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • GARD:101,
  • ORDO:596,
  • myotubular myopathy,
  • SNOMEDCT_US_2023_03_01:193223007,
  • ORDO:69186,
  • UMLS_CUI:C0175709,
  • ICD10CM:G71.22,
  • ORDO:595,
  • ORDO:69189,
  • MESH:D020914,
  • NCI:C84648
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents