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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 11 116,008,357 116,012,719 RGD:8554872
RGD:7240710
G Itgb4 integrin beta 4 JBrowse link 11 115,974,725 116,008,412 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12767
    Nutritional and Metabolic Diseases 3548
      disease of metabolism 3548
        inherited metabolic disorder 1793
          carbohydrate metabolic disorder 331
            galactosemia 9
              galactokinase deficiency 2
Path 2
Term Annotations click to browse term
  disease 12767
    disease of anatomical entity 12382
      nervous system disease 9893
        central nervous system disease 8257
          brain disease 7633
            Metabolic Brain Diseases 496
              Metabolic Brain Diseases, Inborn 430
                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.