Send us a Message



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

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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: GALAC2;   GALK deficiencies;   GALK deficiency;   GALK1-RELATED CONDITION;   deficiency of galactokinase;   galactokinase deficiencies;   galactokinase deficiency disease;   galactokinase deficiency diseases;   galactokinase deficiency with cataracts;   galactosemia 2;   galactosemia II
 primary_id: OMIM:230200
 xref: GARD:2422;   ICD10CM:E74.29;   NCI:C114767;   ORDO:79237
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
galactokinase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GALK1 galactokinase 1 IAGP ClinVar Annotator: match by term: Deficiency of galactokinase
ClinVar Annotator: match by term: GALK1-related condition
ClinVar
OMIM
PMID:7670469 PMID:9536098 PMID:10521295 PMID:10570908 PMID:10790206 More... NCBI chr17:75,751,469...75,765,192
Ensembl chr17:75,751,594...75,765,236
JBrowse link
G ITGB4 integrin subunit beta 4 IAGP ClinVar Annotator: match by term: Deficiency of galactokinase ClinVar PMID:10790206 PMID:11328943 PMID:16199547 PMID:16473856 PMID:25741868 More... NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818
JBrowse link
G LOC130061683 ATAC-STARR-seq lymphoblastoid silent region 8980 IAGP ClinVar Annotator: match by term: Deficiency of galactokinase ClinVar NCBI chr17:75,765,167...75,765,356 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 40760
    Nutritional and Metabolic Diseases 10547
      disease of metabolism 10547
        inherited metabolic disorder 7844
          carbohydrate metabolic disorder 3606
            galactosemia 103
              galactokinase deficiency 3
Path 2
Term Annotations click to browse term
  disease 40760
    disease of anatomical entity 32068
      nervous system disease 25939
        central nervous system disease 23176
          brain disease 21615
            Metabolic Brain Diseases 1813
              Metabolic Brain Diseases, Inborn 1645
                galactosemia 103
                  galactokinase deficiency 3
paths to the root