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ONTOLOGY REPORT - ANNOTATIONS


Term:neurodegeneration with brain iron accumulation
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Accession:DOID:0110734 term browser browse the term
Definition:A neurodegenerative disease characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia. (DO)
Synonyms:exact_synonym: NBIA;   Neurodegeneration with brain iron accumulation (NBIA)
 narrow_synonym: Neuroaxonal dystrophy, PLA2G6-related;   Neurodegeneration with brain iron accumulation 1, atypical
 related_synonym: Iron Accumulation In Brain
 primary_id: MESH:C538421
 alt_id: OMIA:002105;   RDO:0004395
 xref: GARD:11899;   OMIM:PS234200;   ORDO:385
For additional species annotation, visit the Alliance of Genome Resources.


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neurodegeneration with brain iron accumulation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crat carnitine O-acetyltransferase JBrowse link 3 8,967,984 8,981,959 RGD:8554872
G Pank2 pantothenate kinase 2 JBrowse link 3 123,807,911 123,841,797 RGD:8554872
RGD:11554173
G Pla2g6 phospholipase A2 group VI JBrowse link 7 120,519,479 120,559,716 RGD:8554872
G Reps1 RALBP1 associated Eps domain containing 1 JBrowse link 1 13,262,049 13,298,347 RGD:8554872
G Wdr45 WD repeat domain 45 JBrowse link X 15,621,249 15,627,159 RGD:11554173
RGD:8554872
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
neurodegeneration with brain iron accumulation 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pla2g6 phospholipase A2 group VI JBrowse link 7 120,519,479 120,559,716 RGD:7240710
RGD:8554872
RGD:12910703
neurodegeneration with brain iron accumulation 2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pla2g6 phospholipase A2 group VI JBrowse link 7 120,519,479 120,559,716 RGD:7240710
RGD:8554872
neurodegeneration with brain iron accumulation 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ftl1 ferritin light chain 1 JBrowse link 1 101,448,190 101,450,034 RGD:5509859
RGD:8554872
RGD:7240710
RGD:5509860
RGD:5509861
G Gys1 glycogen synthase 1 JBrowse link 1 101,427,195 101,447,092 RGD:8554872
neurodegeneration with brain iron accumulation 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC690000 similar to CG3740-PA JBrowse link 1 94,572,714 94,587,842 RGD:7240710
RGD:8554872
neurodegeneration with brain iron accumulation 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Otud5 OTU deubiquitinase 5 JBrowse link X 15,471,212 15,504,372 RGD:8554872
G Wdr45 WD repeat domain 45 JBrowse link X 15,621,249 15,627,159 RGD:7240710
RGD:8554872
neurodegeneration with brain iron accumulation 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coasy Coenzyme A synthase JBrowse link 10 88,992,413 88,996,677 RGD:7240710
RGD:8554872
Neurodegeneration with Brain Iron Accumulation 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Reps1 RALBP1 associated Eps domain containing 1 JBrowse link 1 13,262,049 13,298,347 RGD:8554872
RGD:7240710
Neurodegeneration with Brain Iron Accumulation 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crat carnitine O-acetyltransferase JBrowse link 3 8,967,984 8,981,959 RGD:7240710
RGD:8554872
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        neurodegenerative disease 2691
          neurodegeneration with brain iron accumulation 13
            Neurodegeneration with Brain Iron Accumulation 7 1
            Neurodegeneration with Brain Iron Accumulation 8 1
            neurodegeneration with brain iron accumulation 2A 1
            neurodegeneration with brain iron accumulation 2B 1
            neurodegeneration with brain iron accumulation 3 2
            neurodegeneration with brain iron accumulation 4 1
            neurodegeneration with brain iron accumulation 5 2
            neurodegeneration with brain iron accumulation 6 1
            pantothenate kinase-associated neurodegeneration + 4
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          brain disease 7561
            cerebral degeneration 236
              neuroaxonal dystrophy 22
                neurodegeneration with brain iron accumulation 13
                  Neurodegeneration with Brain Iron Accumulation 7 1
                  Neurodegeneration with Brain Iron Accumulation 8 1
                  neurodegeneration with brain iron accumulation 2A 1
                  neurodegeneration with brain iron accumulation 2B 1
                  neurodegeneration with brain iron accumulation 3 2
                  neurodegeneration with brain iron accumulation 4 1
                  neurodegeneration with brain iron accumulation 5 2
                  neurodegeneration with brain iron accumulation 6 1
                  pantothenate kinase-associated neurodegeneration + 4
paths to the root

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