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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;   Pallidopyramidal Syndrome;   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;   parkinsonian-pyramidal syndrome
 primary_id: MESH:C538104
 alt_id: MIM:260300
 xref: 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 7:17,809,224...17,837,549
Ensembl chr 7:17,809,231...17,837,530 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    syndrome 11271
      Parkinson's disease 15 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14334
        central nervous system disease 12604
          brain disease 11833
            movement disease 2626
              Dyskinesias 2228
                dystonia 503
                  focal dystonia 11
                    blepharospasm 2
                      Parkinson's disease 15 1
paths to the root