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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
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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

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Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      Kufor-Rakeb syndrome 1
Path 2
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  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          brain disease 7561
            movement disease 1000
              Parkinsonian Disorders 322
                Parkinson's disease 248
                  early-onset Parkinson's disease 15
                    Kufor-Rakeb syndrome 1
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