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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
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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: 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.

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galactokinase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Galk1 galactokinase 1 ISO ClinVar Annotator: match by term: Deficiency of galactokinase | ClinVar Annotator: match by term: GALK1-related condition OMIM
ClinVar		 PMID:7670469 PMID:9536098 PMID:10521295 PMID:10570908 PMID:10790206 More... NCBI chrNW_004936594:944,936...950,537
Ensembl chrNW_004936594:944,944...949,838 		JBrowse link
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Deficiency of galactokinase ClinVar PMID:10790206 PMID:11328943 PMID:16199547 PMID:16473856 PMID:23496044 More... NCBI chrNW_004936594:912,302...944,819
Ensembl chrNW_004936594:912,291...946,012 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Nutritional and Metabolic Diseases 6781
      disease of metabolism 6781
        inherited metabolic disorder 5212
          carbohydrate metabolic disorder 2560
            galactosemia 89
              galactokinase deficiency 2
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      nervous system disease 12340
        central nervous system disease 11056
          brain disease 10378
            Metabolic Brain Diseases 1390
              Metabolic Brain Diseases, Inborn 1272
                galactosemia 89
                  galactokinase deficiency 2
paths to the root