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Term:hyperferritinemia-cataract syndrome
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Accession:DOID:0111256 term browser browse the term
Definition:An autosomal dominant disease characterized by elevated circulating levels of ferritin without iron overload and early onset cataracts that has_material_basis_in heterozygous mutation in the iron responsive element in the 5-prime noncoding region of FTL on 19q13.33. (DO)
Synonyms:exact_synonym: Bonneau-Beaumont syndrome;   Dominant hyperferritinemia and cataract;   HHCS;   HRFTC;   Hereditary Hyperferritinemia with Congenital Cataracts;   Hereditary hyperferritinemia-cataract syndrome;   hyperferritinemia with or without cataract
 primary_id: MESH:C538137
 alt_id: OMIM:600886;   RDO:0004073
 xref: GARD:2806;   ORDO:163
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hyperferritinemia-cataract syndrome 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:1598966
G Gys1 glycogen synthase 1 JBrowse link 1 101,427,195 101,447,092 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        mineral metabolism disease 411
          iron metabolism disease 92
            hyperferritinemia-cataract syndrome 2
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        sensory system disease 4674
          eye and adnexa disease 2242
            eye disease 2242
              lens disease 194
                cataract 187
                  hyperferritinemia-cataract syndrome 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.