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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 the GALE gene on chromosome 1p36.11. (DO)
Synonyms:exact_synonym: GALAC3;   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;   UDPglucose-4-epimerase deficiency disease;   epimerase deficiency galactosemia;   epimerase deficiency galactosemias;   galactose epimerase deficiencies;   galactosemia type 3;   uridine diphosphate galactose-4-epimerase deficiency
 primary_id: OMIM:230350
 xref: GARD:5392;   ORDO:79238


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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 OMIM
ClinVar		 PMID:6408303 PMID:7305435 PMID:9326324 PMID:9536098 PMID:9538513 More... NCBI chr 5:148,193,886...148,198,392
Ensembl chr 5:148,194,791...148,198,388 		JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO ClinVar Annotator: match by term: UDPglucose-4-epimerase deficiency ClinVar NCBI chr 5:148,178,203...148,192,072
Ensembl chr 5:148,178,252...148,192,068 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8235
      disease of metabolism 8235
        inherited metabolic disorder 6212
          Metabolic Brain Diseases, Inborn 1354
            galactosemia 94
              galactose epimerase deficiency 2
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        central nervous system disease 12399
          brain disease 11634
            Metabolic Brain Diseases 1487
              Metabolic Brain Diseases, Inborn 1354
                galactosemia 94
                  galactose epimerase deficiency 2
paths to the root