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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;   Pallido-Pyramidal Syndrome;   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;   parkinsonian-pyramidal syndrome
 primary_id: MESH:C538104
 alt_id: OMIM:260300;   RDO:0004036
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by OMIM:260300
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET
ClinVar Annotator: match by term: Parkinson disease 15
OMIM
ClinVar
CTD
PMID:18513678, PMID:19038853, PMID:20603184, PMID:23352116, PMID:24112787, PMID:25029497, PMID:25174650, PMID:25741868, PMID:27294386, PMID:28492532 NCBI chr 7:23,815,246...23,843,505
Ensembl chr 7:23,815,245...23,843,634
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      Parkinson's disease 15 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        central nervous system disease 9005
          brain disease 8328
            movement disease 1156
              Dyskinesias 867
                dystonia 161
                  focal dystonia 19
                    blepharospasm 3
                      Parkinson's disease 15 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.