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DO Term : NARP syndrome [DOID:0111273] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A mitochondrial metabolism disease characterized by developmental delay, retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene MTATP6.
  • synonyms:
  • Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome,
  • ORDO:644,
  • OMIM:551500,
  • MEDDRA:10062940,
  • 551500,
  • neuropathy, ataxia and retinitis pigmentosa,
  • Neuropathy-ataxia-retinitis pigmentosa syndrome,
  • GARD:262,
  • UMLS_CUI:C1328349,
  • MESH:C537396,
  • SNOMEDCT_US_2023_03_01:237984008
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