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Term:galactokinase deficiency
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Accession:DOID:14695 term browser browse the term
Definition:A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase. (DO)
Synonyms:exact_synonym: GALK deficiencies;   GALK deficiency;   deficiency of galactokinase;   galactokinase deficiencies;   galactokinase deficiency disease;   galactokinase deficiency diseases;   galactokinase deficiency with cataracts;   galactosemia 2;   galactosemia 2s;   galactosemia II
 primary_id: OMIM:230200
 alt_id: RDO:9002857
 xref: GARD:2422;   ICD10CM:E74.29;   NCI:C114767
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galactokinase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GALK1 galactokinase 1 JBrowse link 12 5,642,012 5,651,186 RGD:7240710
G ITGB4 integrin subunit beta 4 JBrowse link 12 5,651,292 5,685,601 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12161
    Nutritional and Metabolic Diseases 3351
      disease of metabolism 3351
        inherited metabolic disorder 1700
          carbohydrate metabolic disorder 319
            galactosemia 9
              galactokinase deficiency 2
Path 2
Term Annotations click to browse term
  disease 12161
    disease of anatomical entity 11823
      nervous system disease 9532
        central nervous system disease 7963
          brain disease 7357
            Metabolic Brain Diseases 467
              Metabolic Brain Diseases, Inborn 404
                galactosemia 9
                  galactokinase deficiency 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.