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 10 104,560,322 104,564,499 RGD:8554872
RGD:7240710
G Itgb4 integrin subunit beta 4 JBrowse link 10 104,524,000 104,560,180 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15469
    Nutritional and Metabolic Diseases 4381
      disease of metabolism 4381
        inherited metabolic disorder 1887
          carbohydrate metabolic disorder 328
            galactosemia 9
              galactokinase deficiency 2
Path 2
Term Annotations click to browse term
  disease 15469
    disease of anatomical entity 14820
      nervous system disease 10221
        central nervous system disease 8352
          brain disease 7703
            Metabolic Brain Diseases 477
              Metabolic Brain Diseases, Inborn 411
                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.