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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:NARP syndrome
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Accession:DOID:0111273 term browser browse the term
Definition: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. (DO)
Synonyms:exact_synonym: Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome;   neurogenic muscle weakness, ataxia, and retinitis pigmentosa;   neuropathy, ataxia and retinitis pigmentosa;   neuropathy, ataxia, retinitis pigmentosa syndrome
 primary_id: MESH:C537396
 alt_id: OMIM:551500;   RDO:0003234
 xref: ORDO:644\:GARD\:262
For additional species annotation, visit the Alliance of Genome Resources.


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NARP syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO DNA:missense mutation:cds:m.8993T>G, p.L156R (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuropathy ataxia retinitis pigmentosa syndrome
ClinVar Annotator: match by term: NARP syndrome
CTD
ClinVar
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:3612192 PMID:8042671 PMID:8095070 PMID:8190310 PMID:8250532 PMID:8395787 PMID:8602753 PMID:8644724 PMID:8750605 PMID:9199572 PMID:9329425 PMID:9556461 PMID:9568930 PMID:9762610 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11916326 PMID:11925565 PMID:14998933 PMID:16049925 PMID:17452590 PMID:18055910 PMID:19124644 PMID:19667215 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27129022 PMID:32313153, PMID:11843698 RGD:13825442 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    sensory system disease 5285
      eye disease 2714
        fundus dystrophy 339
          retinitis pigmentosa 270
            NARP syndrome 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        peripheral nervous system disease 2498
          neuropathy 2319
            neuromuscular disease 1802
              muscular disease 1218
                muscle tissue disease 829
                  myopathy 683
                    mitochondrial myopathy 91
                      NARP syndrome 1
paths to the root