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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • NARP syndrome
described by
id
  • DOID:0111273
database_cross_reference
  • GARD:262
  • MEDDRA:10062940
  • MESH:C537396
  • OMIM:551500
  • ORDO:644
  • SNOMEDCT_US_2021_09_01:237984008
  • UMLS_CUI:C1328349
has_exact_synonym
  • Neuropathy-ataxia-retinitis pigmentosa syndrome (en)
  • neuropathy, ataxia and retinitis pigmentosa (en)
  • Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • 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.
is topic of
is annotatedSource of
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