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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:galactose epimerase deficiency
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Accession:DOID:0111458 term browser browse the term
Definition:A galactosemia that has_material_basis_in homozygous or compund heterozygous mutation in GALE on chromosome 1p36.11. (DO)
Synonyms:exact_synonym: Epimerase Deficiency Galactosemia;   GALE Deficiencies;   GALE Deficiency;   GALE-D;   Galactosemia 3;   Galactosemia III;   UDP Galactose 4 Epimerase Deficiency;   UDP Galactose 4 Epimerase Deficiency Disease;   UDP-Galactose-4-Epimerase Deficiencies;   UDP-Galactose-4-Epimerase Deficiency Diseases;   UDPglucose 4 epimerase deficiency disease;   UDPglucose-4-epimerase deficiency;   epimerase deficiency galactosemias;   galactose epimerase deficiencies;   galactosemia type 3;   uridine diphosphate galactose-4-epimerase deficiency
 primary_id: OMIM:230350
 xref: GARD:5392;   ORDO:79238
For additional species annotation, visit the Alliance of Genome Resources.


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galactose epimerase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gale UDP-galactose-4-epimerase ISO ClinVar Annotator: match by term: UDPglucose-4-epimerase deficiency ClinVar
OMIM
PMID:6408303, PMID:7305435, PMID:9326324, PMID:9538513, PMID:9973283, PMID:10086948, PMID:11117433, PMID:11279193, PMID:15639193, PMID:16301867, PMID:16302980, PMID:16385452, PMID:18188677, PMID:19250319, PMID:23644136, PMID:23732289, PMID:24033266, PMID:24578239, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 5:154,310,453...154,314,959
Ensembl chr 5:154,310,453...154,314,955
JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO ClinVar Annotator: match by term: UDPglucose-4-epimerase deficiency ClinVar NCBI chr 5:154,294,841...154,308,582
Ensembl chr 5:154,294,806...154,308,640
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    Nutritional and Metabolic Diseases 4713
      disease of metabolism 4713
        inherited metabolic disorder 2222
          Metabolic Brain Diseases, Inborn 503
            galactosemia 10
              galactose epimerase deficiency 2
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      nervous system disease 10864
        central nervous system disease 9008
          brain disease 8328
            Metabolic Brain Diseases 574
              Metabolic Brain Diseases, Inborn 503
                galactosemia 10
                  galactose epimerase 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.