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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 15
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Accession:DOID:0060372 term browser browse the term
Definition:An early-onset Parkinson's disease that has_material_basis_in mutation in the FBXO7 gene on chromosome 22q12.3. (DO)
Synonyms:exact_synonym: PARK15;   PARKINSON DISEASE 15;   PKPS;   Parkinson disease 15, autosomal recessive;   Parkinson's disease 15, autosomal recessive;   autosomal recessive early-onset Parkinson disease 15;   autosomal recessive early-onset Parkinson's disease 15;   pallido-pyramidal disease;   pallido-pyramidal syndrome;   pallidopyramidal syndrome;   parkinsonian-pyramidal syndrome
 xref: MESH:C538104;   MIM:260300;   MONDO:009830;   NCI:C198607


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Parkinson's disease 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxo7 F-box protein 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Parkinsonian-pyramidal syndrome 		OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18513678 PMID:19038853 More... NCBI chr 7:19,696,951...19,725,180
Ensembl chr 7:19,696,961...19,725,180 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      Parkinson's disease 15 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
              Dyskinesias 2229
                dystonia 501
                  focal dystonia 11
                    blepharospasm 3
                      Parkinson's disease 15 1
paths to the root