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ONTOLOGY REPORT - ANNOTATIONS


Term:pantothenate kinase-associated neurodegeneration
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Accession:DOID:3981 term browser browse the term
Definition:A rare autosomal recessive degenerative disorder which usually presents in late childhood or adolescence. Clinical manifestations include progressive MUSCLE SPASTICITY; hyperreflexia; MUSCLE RIGIDITY; DYSTONIA; DYSARTHRIA; and intellectual deterioration which progresses to severe dementia over several years. (From Adams et al., Principles of Neurology, 6th ed, p972; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp972-929)
Synonyms:exact_synonym: Hallervorden Spatz disease;   Hallervorden Spatz syndrome;   Juvenile-Onset Neuroaxonal Dystrophies;   Juvenile-Onset Neuroaxonal Dystrophy;   NBIA1;   Neurodegeneration With Brain Iron Accumulation 1;   Neurodegeneration with Brain Iron Accumulation Type 1;   PKAN;   PKAN neuroaxonal dystrophy, juvenile onset;   Pigmentary Pallidal Atrophy;   brain iron accumulation type I syndrome;   pigmentary pallidal degeneration
 primary_id: MESH:D006211
 alt_id: OMIM:234200;   RDO:0005708
 xref: GARD:6564;   NCI:C84988;   NCI:C8967;   ORDO:157850
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pantothenate kinase-associated neurodegeneration term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pank2 pantothenate kinase 2 JBrowse link 3 123,807,911 123,841,797 RGD:7240710
RGD:8554872
RGD:11554173
G Snca synuclein alpha JBrowse link 4 90,782,412 90,883,236 RGD:6480098
G Sncb synuclein, beta JBrowse link 17 10,384,472 10,392,776 RGD:6480098
G Sncg synuclein, gamma JBrowse link 16 10,722,110 10,726,648 RGD:6480098
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pank2 pantothenate kinase 2 JBrowse link 3 123,807,911 123,841,797 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        central nervous system disease 8096
          movement disease 1001
            pantothenate kinase-associated neurodegeneration 4
              Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        central nervous system disease 8096
          brain disease 7565
            cerebral degeneration 236
              neuroaxonal dystrophy 22
                neurodegeneration with brain iron accumulation 13
                  pantothenate kinase-associated neurodegeneration 4
                    Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration 1
paths to the root

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