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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;   Neuroferritinopathy; Basal Ganglia Disease, Adult-Onset;   adult basal ganglia disease;   basal ganglia disease, adult-onset;   ferritin-related neurodegeneration;   hereditary ferritinopathy;   neuroferritinopathy
 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 chain 1 JBrowse link 1 101,448,190 101,450,034 RGD:5509859
RGD:8554872
RGD:5509860
RGD:5509861
RGD:7240710
G Gys1 glycogen synthase 1 JBrowse link 1 101,427,195 101,447,092 RGD:8554872

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  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          neurodegeneration with brain iron accumulation 3 2
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            cerebral degeneration 194
              neuroaxonal dystrophy 22
                neurodegeneration with brain iron accumulation 14
                  neurodegeneration with brain iron accumulation 3 2
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