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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:NARP syndrome
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Accession:EFO:MONDO:0010794 term browser browse the term
Definition:Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy.
Synonyms:exact_synonym: neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome
 related_synonym: NARP;   neuropathy ataxia retinitis pigmentosa syndrome;   neuropathy, ataxia, and retinitis pigmentosa
 alt_id: MONDO:0010794
 xref: DOID:0111273;   GARD:262;   MEDGEN:231285;   MESH:C537396;   MIM:551500;   MedDRA:10062940;   ORDO:644;   UMLS:C1328349;   icd11.foundation:2089784682

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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          mitochondrial disease 0
            inborn mitochondrial metabolism disorder 0
              mitochondrial oxidative phosphorylation disorder 0
                NARP syndrome 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            inborn errors of metabolism 0
              inborn disorder of energy metabolism 0
                inborn mitochondrial metabolism disorder 0
                  mitochondrial oxidative phosphorylation disorder 0
                    NARP syndrome 0
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