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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 13
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Accession:DOID:9002859 term browser browse the term
Synonyms:exact_synonym: PARK13;   Parkinson Disease 13;   Parkinson disease 13, autosomal dominant;   Parkinson's disease 13, autosomal dominant
 broad_synonym: HTRA2-RELATED CONDITION
 related_synonym: PARKINSON DISEASE 13, SUSCEPTIBILITY TO;   PARKINSON'S DISEASE 13, SUSCEPTIBILITY TO;   Parkinson Disease 13, Autosomal Dominant, Susceptibility To;   Parkinson's Disease 13, Autosomal Dominant, Susceptibility To
 xref: MESH:C565204;   MIM:610297;   MONDO:0012466


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Parkinson's Disease 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aup1 AUP1, lipid droplet regulating VLDL assembly factor ISO ClinVar Annotator: match by term: Parkinson disease 13, autosomal dominant, susceptibility to ClinVar PMID:18401856 PMID:18790661 PMID:25741868 NCBI chr 4:117,118,035...117,121,063
Ensembl chr 4:117,117,999...117,121,061 		JBrowse link
G Htra2 HtrA serine peptidase 2 ISO ClinVar Annotator: match by term: Parkinson disease 13, autosomal dominant, susceptibility to
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:15961413 PMID:18364387 PMID:18401856 PMID:18790661 PMID:19118185 More... NCBI chr 4:117,114,631...117,117,793
Ensembl chr 4:117,114,633...117,117,793 		JBrowse link
G Loxl3 lysyl oxidase-like 3 ISO ClinVar Annotator: match by term: Parkinson disease 13, autosomal dominant, susceptibility to ClinVar PMID:15961413 PMID:18364387 PMID:18790661 PMID:19118185 PMID:21163861 More... NCBI chr 4:117,098,358...117,114,673
Ensembl chr 4:117,099,635...117,115,046 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Nutritional and Metabolic Diseases 8574
      disease of metabolism 8574
        Proteostasis Deficiencies 818
          synucleinopathy 417
            Parkinson's disease 376
              Parkinson's Disease 13 3
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            movement disease 2631
              Parkinsonism 459
                Parkinson's disease 376
                  Parkinson's Disease 13 3
paths to the root