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ONTOLOGY REPORT - ANNOTATIONS


Term:Kufor-Rakeb syndrome
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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.


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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
RGD:8554872
RGD:11554173

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  disease 14759
    syndrome 4210
      Kufor-Rakeb syndrome 1
Path 2
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  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            movement disease 989
              Parkinsonian Disorders 309
                Parkinson's disease 234
                  juvenile-onset Parkinson's disease 5
                    Kufor-Rakeb syndrome 1
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