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ONTOLOGY REPORT - ANNOTATIONS


Term:neurodegeneration with brain iron accumulation 3
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Accession:DOID:0110737 term browser browse the term
Definition:A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal dominant inheritance of mutation in the FTL gene on chromosome 19q13.33. (DO)
Synonyms:exact_synonym: NBIA3;   adult basal ganglia disease;   basal ganglia disease, adult-onset;   ferritin-related neurodegeneration;   hereditary ferritinopathy;   neuroferritinopathy;   neuroferritinopathy; basal ganglia disease, adult-onset
 primary_id: MESH:C548080
 alt_id: OMIM:606159;   RDO:0004661
 xref: ORDO:157846
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neurodegeneration with brain iron accumulation 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FTL ferritin light chain JBrowse link 6 54,231,121 54,232,756 RGD:7240710
RGD:9068941
G GYS1 glycogen synthase 1 JBrowse link 6 54,234,600 54,250,211 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11965
    disease of anatomical entity 11620
      nervous system disease 9310
        neurodegenerative disease 2526
          neurodegeneration with brain iron accumulation 13
            neurodegeneration with brain iron accumulation 3 2
Path 2
Term Annotations click to browse term
  disease 11965
    disease of anatomical entity 11620
      nervous system disease 9310
        central nervous system disease 7497
          brain disease 6994
            cerebral degeneration 220
              neuroaxonal dystrophy 20
                neurodegeneration with brain iron accumulation 13
                  neurodegeneration with brain iron accumulation 3 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.