ONTOLOGY REPORT - ANNOTATIONS


Term:Kufor-Rakeb syndrome
go back to main search page
Accession:DOID:0060556 term browser browse the term
Definition:A 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 (ATP13A2) on chromosome 1p36. (DO)
Synonyms:exact_synonym: KRPPD;   KRS;   PARK9;   Pallidopyramidal Degeneration with Supranuclear Upgaze Paresis and Dementia;   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
 primary_id: MESH:C537177
 alt_id: OMIM:606693;   RDO:0002964
 xref: ORDO:306674
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
Kufor-Rakeb syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp13a2 ATPase cation transporting 13A2 JBrowse link 5 159,512,208 159,531,631 RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      Kufor-Rakeb syndrome 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            movement disease 993
              Parkinsonian Disorders 310
                Parkinson's disease 235
                  juvenile-onset Parkinson's disease 5
                    Kufor-Rakeb syndrome 1
paths to the root

NHLBI Logo

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