Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Behavioral & Substance Use Disorder Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes 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 Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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 4
go back to main search page
Accession:DOID:0060895 term browser browse the term
Definition:A late onset Parkinson disease that has_material_basis_in heterozygous triplication of the alpha-synuclein gene on chromosome 4q22. (DO)
Synonyms:exact_synonym: PARK4;   autosomal dominant Lewy body Parkinson disease 4;   autosomal dominant Lewy body Parkinson's disease 4;   autosomal dominant Parkinson disease 4;   autosomal dominant Parkinson's disease 4
 xref: MESH:C565324;   MIM:605543;   MONDO:0011562;   NCI:C198604


show annotations for term's descendants           Sort by:
Parkinson's disease 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snca synuclein alpha ISO
ISS 		CTD Direct Evidence: marker/mechanism
OMIM:605543
ClinVar Annotator: match by term: Autosomal dominant Parkinson disease 4 		OMIM
CTD
MouseDO
ClinVar		 PMID:9197268 PMID:9499430 PMID:9506559 PMID:9827625 PMID:10417297 More... NCBI chr 4:91,026,474...91,127,444
Ensembl chr 4:91,026,474...91,126,315 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Diseases of the Aged 1480
      dementia 878
        Lewy body dementia 40
          Parkinson's disease 4 1
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
                  late onset Parkinson's disease 29
                    Parkinson's disease 4 1
paths to the root