Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:galactokinase deficiency
go back to main search page
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.


show annotations for term's descendants       view all columns           Sort by:
 
galactokinase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Galk1 galactokinase 1 JBrowse link NW_004936594 944,936 950,537 RGD:7240710
RGD:9068941
G Itgb4 integrin subunit beta 4 JBrowse link NW_004936594 912,302 944,819 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11547
    Nutritional and Metabolic Diseases 3185
      disease of metabolism 3185
        inherited metabolic disorder 1636
          carbohydrate metabolic disorder 301
            galactosemia 9
              galactokinase deficiency 2
Path 2
Term Annotations click to browse term
  disease 11547
    disease of anatomical entity 11222
      nervous system disease 9080
        central nervous system disease 7576
          brain disease 6994
            Metabolic Brain Diseases 447
              Metabolic Brain Diseases, Inborn 385
                galactosemia 9
                  galactokinase deficiency 2
paths to the root

NHLBI Logo

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