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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: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 the GALT gene on chromosome 9p13.3. (DO)
Synonyms:exact_synonym: GALAC1;   GALT deficiencies;   GALT deficiency;   GALT-RELATED CONDITION;   Galactose 1 Phosphate Uridyl Transferase Deficiency Disease;   Galactose 1 Phosphate Uridyltransferase Deficiency;   Galactose 1 Phosphate Uridylyltransferase Deficiency;   Galactose-1-Phosphate Uridyltransferase Deficiencies;   classic galactosemias;   galactosemia I;   galactosemia type 1
 primary_id: OMIM:230400
 xref: GARD:13639;   NCI:C99104;   ORDO:79239


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18300
    Nutritional and Metabolic Diseases 7392
      disease of metabolism 7392
        inherited metabolic disorder 5663
          Metabolic Brain Diseases, Inborn 1382
            galactosemia 95
              classic galactosemia 1
Path 2
Term Annotations click to browse term
  disease 18300
    disease of anatomical entity 15630
      nervous system disease 13500
        central nervous system disease 12085
          brain disease 11342
            Metabolic Brain Diseases 1515
              Metabolic Brain Diseases, Inborn 1382
                galactosemia 95
                  classic galactosemia 1
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