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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:Kufor-Rakeb syndrome
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Accession:DOID:0060556 term browser browse the term
Definition:An early-onset Parkinson's disease that is characterized by supranuclear gaze palsy, spasticity, and dementia and has_material_basis_in homozygous or compound heterozygous mutation in a lysosomal type 5 ATPase encoding gene on chromosome 1p36. (DO)
Synonyms:exact_synonym: KRPPD;   KRS;   PARK9;   Parkinson disease 9;   Parkinson's disease 9;   autosomal recessive Parkinson disease 9;   autosomal recessive Parkinson disease 9, juvenile onset;   autosomal recessive Parkinson's disease 9, juvenile-onset;   pallidopyramidal degeneration with supranuclear upgaze paresis and dementia
 primary_id: MESH:C537177
 alt_id: OMIM:606693;   RDO:0002964
 xref: ORDO:306674
For additional species annotation, visit the Alliance of Genome Resources.


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Kufor-Rakeb syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp13a2 ATPase cation transporting 13A2 ISO ClinVar Annotator: match by OMIM:606693
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Parkinson disease 9
ClinVar Annotator: match by term: Kufor-Rakeb syndrome
OMIM
ClinVar
CTD
PMID:495089, PMID:12169656, PMID:16964263, PMID:17485642, PMID:18075584, PMID:18075585, PMID:18414213, PMID:19015489, PMID:19085912, PMID:19360675, PMID:19458722, PMID:19705361, PMID:20137506, PMID:20816920, PMID:20853184, PMID:21060012, PMID:21094623, PMID:21542062, PMID:21665991, PMID:21696388, PMID:21714071, PMID:21724849, PMID:22022275, PMID:22296644, PMID:22388936, PMID:22743658, PMID:22768177, PMID:22847264, PMID:22995991, PMID:23499937, PMID:24088041, PMID:24399444, PMID:25374329, PMID:25466404, PMID:25741868, PMID:26467025, PMID:26633545, PMID:27294386, PMID:28492532, PMID:29903538 NCBI chr 5:159,512,208...159,531,631
Ensembl chr 5:159,512,285...159,531,637
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      Kufor-Rakeb syndrome 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          brain disease 8346
            movement disease 1158
              Parkinsonian Disorders 330
                Parkinson's disease 250
                  early-onset Parkinson's disease 17
                    Kufor-Rakeb syndrome 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.