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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 19 48,963,941 48,966,879 RGD:5509859
RGD:5509860
RGD:5509861
RGD:8554872
RGD:7240710
G GYS1 glycogen synthase 1 JBrowse link 19 48,968,130 48,993,309 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16432
    disease of anatomical entity 15407
      nervous system disease 11675
        neurodegenerative disease 2897
          neurodegeneration with brain iron accumulation 13
            neurodegeneration with brain iron accumulation 3 2
Path 2
Term Annotations click to browse term
  disease 16432
    disease of anatomical entity 15407
      nervous system disease 11675
        central nervous system disease 9550
          brain disease 8971
            cerebral degeneration 241
              neuroaxonal dystrophy 22
                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.