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ONTOLOGY REPORT - ANNOTATIONS


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
For additional species annotation, visit the Alliance of Genome Resources.


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galactokinase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GALK1 galactokinase 1 JBrowse link 9 4,818,558 4,824,845 RGD:7240710
RGD:9068941
G ITGB4 integrin subunit beta 4 JBrowse link 9 4,825,148 4,855,266 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12219
    Nutritional and Metabolic Diseases 3386
      disease of metabolism 3386
        inherited metabolic disorder 1715
          carbohydrate metabolic disorder 322
            galactosemia 9
              galactokinase deficiency 2
Path 2
Term Annotations click to browse term
  disease 12219
    disease of anatomical entity 11875
      nervous system disease 9576
        central nervous system disease 7991
          brain disease 7390
            Metabolic Brain Diseases 470
              Metabolic Brain Diseases, Inborn 407
                galactosemia 9
                  galactokinase deficiency 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.