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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:PARKINSONISM WITH POLYNEUROPATHY
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Accession:DOID:9000233 term browser browse the term
Definition:This disease is an autosomal dominant disorder characterized by asymmetrical tremor-dependent parkinsonism. The age of onset ranges from the late forties to mid-sixties, and patients have a good response to levodopa.
Synonyms:exact_synonym: PKNPY
 primary_id: OMIM:619279
 xref: NCI:C201521


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PARKINSONISM WITH POLYNEUROPATHY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Uqcrc1 ubiquinol-cytochrome c reductase core protein 1 ISO ClinVar Annotator: match by term: Parkinsonism with polyneuropathy OMIM
ClinVar		 PMID:25741868 PMID:33141179 NCBI chr 9:108,765,716...108,778,709
Ensembl chr 9:108,765,701...108,778,691 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      nervous system disease 13500
        peripheral nervous system disease 4114
          polyneuropathy 107
            PARKINSONISM WITH POLYNEUROPATHY 1
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      nervous system disease 13500
        central nervous system disease 12085
          brain disease 11342
            movement disease 2557
              Parkinsonism 451
                PARKINSONISM WITH POLYNEUROPATHY 1
paths to the root