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Term:tyrosinemia type II
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Accession:DOID:0050725 term browser browse the term
Definition:A tyrosinemia that has_material_basis_in deficiency of hepatic tyrosine aminotransferase located_in the liver and is characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels. (DO)
Synonyms:exact_synonym: Richner-Hanhart syndrome;   TYRSN2;   oculocutaneous tyrosinemia;   type 2 tyrosinemia;   type 2 tyrosinemias;   type II tyrosinemias
 primary_id: OMIM:276600
 alt_id: RDO:9003977
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tyrosinemia type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tat tyrosine aminotransferase JBrowse link 19 41,675,639 41,686,195 RGD:7240710

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  disease 14334
    sensory system disease 4098
      skin disease 2169
        tyrosinemia type II 1
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  disease 14334
    disease of anatomical entity 13522
      nervous system disease 8600
        central nervous system disease 5854
          brain disease 5335
            Metabolic Brain Diseases 402
              Brain Diseases, Metabolic, Inborn 347
                tyrosinemia 3
                  tyrosinemia type II 1
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