Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References FTP Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) RatMine GViewer (Genome Viewer) Overgo Probe Designer ACP Haplotyper Genome Scanner
Aging & Age-Related Disease Cancer Cardiovascular Disease COVID-19 Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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 23
go back to main search page
Accession:DOID:0060896 term browser browse the term
Definition:A progressive neurodegenerative disorder characterized by young-adult onset of parkinsonism associated with progressive cognitive impairment leading to dementia and dysautonomia.
Synonyms:exact_synonym: PARK23;   autosomal recessive early-onset Parkinson disease 23;   autosomal recessive early-onset Parkinson's disease 23
 primary_id: OMIM:616840
 alt_id: RDO:9000368;   RDO:9001987
 xref: ICD10CM:G20
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
Parkinson's disease 23 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps13c vacuolar protein sorting 13 homolog C ISO ClinVar Annotator: match by term: Parkinson disease 23, autosomal recessive early-onset ClinVar
OMIM		 PMID:25741868 PMID:26942284 PMID:28492532 NCBI chr 8:73,682,814...73,843,290
Ensembl chr 8:73,682,887...73,842,928 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal recessive disease 2628
                Parkinson's disease 23 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          brain disease 8448
            movement disease 1163
              Parkinsonian Disorders 337
                Parkinson's disease 255
                  early-onset Parkinson's disease 18
                    Parkinson's disease 23 1
paths to the root