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DO Term : nemaline myopathy [DOID:3191] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A congenital myopathy characterized by generally non-progressive muscle weakness of varying severity and problems with the tone and contraction of skeletal muscles. The muscle cells contain abnormal clumps of threadlike material called nemaline bodies.
  • synonyms:
  • ICD10CM:G71.21,
  • Nemaline body disease,
  • MESH:D017696,
  • ORDO:607,
  • OMIM:PS161800,
  • GARD:12033,
  • PS161800,
  • rod myopathy,
  • SNOMEDCT_US_2023_03_01:75072002,
  • rod body disease,
  • nemaline rod myopathy,
  • UMLS_CUI:C0206157
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Ontology

Ontology Term --> All ancestors

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Ontology Term --> Direct children

Ontology Term --> Direct parents