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RGD uses the Human Disease Ontology (DO, 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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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    syndrome 9456
      Kufor-Rakeb syndrome 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        central nervous system disease 11253
          brain disease 10538
            movement disease 1690
              Parkinsonism 396
                Parkinson's disease 316
                  early-onset Parkinson's disease 49
                    Kufor-Rakeb syndrome 1
paths to the root