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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:Parkinson's disease 14
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Accession:DOID:0060900 term browser browse the term
Definition:A late-onset Parkinson disease that has_material_basis_in homozygous mutation in the PLA2G6 gene on chromosome 22q13. (DO)
Synonyms:exact_synonym: PARK14;   autosomal recessive Parkinson disease 14;   autosomal recessive Parkinson's disease 14
 broad_synonym: adult-onset dystonia-parkinsonism
 xref: MESH:C567844;   MIM:612953;   MONDO:0013060;   NCI:C201519


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    Pathological Conditions, Signs and Symptoms 13626
      Signs and Symptoms 11214
        Neurologic Manifestations 10449
          Dyskinesias 2234
            dystonia 506
              Parkinson's disease 14 2
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      nervous system disease 14357
        central nervous system disease 12630
          brain disease 11847
            basal ganglia disease 1157
              Parkinsonism 456
                Parkinson's disease 374
                  late onset Parkinson's disease 28
                    Parkinson's disease 14 2
paths to the root