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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 Ftl1 ferritin light polypeptide 1 JBrowse link 7 45,457,944 45,459,886 RGD:5509859
RGD:8554872
RGD:5509860
RGD:5509861
RGD:7240710
G Gys1 glycogen synthase 1, muscle JBrowse link 7 45,434,839 45,456,617 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12521
    disease of anatomical entity 12140
      nervous system disease 9638
        neurodegenerative disease 2587
          neurodegeneration with brain iron accumulation 13
            neurodegeneration with brain iron accumulation 3 2
Path 2
Term Annotations click to browse term
  disease 12521
    disease of anatomical entity 12140
      nervous system disease 9638
        central nervous system disease 7755
          brain disease 7241
            cerebral degeneration 226
              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.