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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 LOC101956274 cytochrome b-c1 complex subunit 1, mitochondrial ISO ClinVar Annotator: match by term: Parkinsonism with polyneuropathy OMIM
ClinVar		 PMID:25741868 PMID:33141179 NCBI chrNW_004936529:385,942...396,196
Ensembl chrNW_004936529:385,851...396,230 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      nervous system disease 12341
        peripheral nervous system disease 3886
          polyneuropathy 98
            PARKINSONISM WITH POLYNEUROPATHY 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      nervous system disease 12341
        central nervous system disease 11056
          brain disease 10378
            movement disease 2374
              Parkinsonism 404
                PARKINSONISM WITH POLYNEUROPATHY 1
paths to the root