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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
 broad_synonym: ATP13A2-RELATED CONDITION
 primary_id: MESH:C537177
 alt_id: OMIM:606693
 xref: NCI:C203534;   ORDO:306674



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Path 1
Term Annotations click to browse term
  disease 40760
    syndrome 17742
      Kufor-Rakeb syndrome 2
Path 2
Term Annotations click to browse term
  disease 40760
    disease of anatomical entity 32068
      nervous system disease 25939
        central nervous system disease 23176
          brain disease 21615
            movement disease 3265
              Parkinsonism 499
                Parkinson's disease 414
                  early-onset Parkinson's disease 127
                    Kufor-Rakeb syndrome 2
paths to the root