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ONTOLOGY REPORT - ANNOTATIONS


Term:classic galactosemia
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Accession:DOID:0111459 term browser browse the term
Definition:A galactosemia that has_material_basis_in homozygous or compund heterozygous mutation in GALT on chromosome 9p13.3. (DO)
Synonyms:exact_synonym: Classic Galactosemias;   GALT Deficiencies;   GALT Deficiency;   Galactose 1 Phosphate Uridyl Transferase Deficiency Disease;   Galactose 1 Phosphate Uridyltransferase Deficiency;   Galactose 1 Phosphate Uridylyltransferase Deficiency;   Galactose-1-Phosphate Uridyltransferase Deficiencies;   galactosemia type 1
 primary_id: OMIM:230400
 xref: GARD:13639;   ORDO:79239
For additional species annotation, visit the Alliance of Genome Resources.


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classic galactosemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Galt galactose-1-phosphate uridylyltransferase JBrowse link 5 58,144,679 58,147,946 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15602
    Nutritional and Metabolic Diseases 4396
      disease of metabolism 4396
        inherited metabolic disorder 1884
          Metabolic Brain Diseases, Inborn 412
            galactosemia 9
              classic galactosemia 1
Path 2
Term Annotations click to browse term
  disease 15602
    disease of anatomical entity 14933
      nervous system disease 10260
        central nervous system disease 8136
          brain disease 7608
            Metabolic Brain Diseases 478
              Metabolic Brain Diseases, Inborn 412
                galactosemia 9
                  classic galactosemia 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.