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

ONTOLOGY REPORT - ANNOTATIONS


Term:galactose epimerase deficiency
go back to main search page
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;   Galactose Epimerase Deficiencies;   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 galactosemias;   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.


show annotations for term's descendants       view all columns           Sort by:
 
galactose epimerase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gale UDP-galactose-4-epimerase JBrowse link 5 154,310,453 154,314,959 RGD:8554872
RGD:7240710
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase JBrowse link 5 154,294,841 154,308,582 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15502
    Nutritional and Metabolic Diseases 4392
      disease of metabolism 4392
        inherited metabolic disorder 1895
          Metabolic Brain Diseases, Inborn 414
            galactosemia 9
              galactose epimerase deficiency 2
Path 2
Term Annotations click to browse term
  disease 15502
    disease of anatomical entity 14856
      nervous system disease 10270
        central nervous system disease 8409
          brain disease 7762
            Metabolic Brain Diseases 481
              Metabolic Brain Diseases, Inborn 414
                galactosemia 9
                  galactose epimerase 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.