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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 GALT on chromosome 9p13.3. (DO)
Synonyms:exact_synonym: 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;   classic galactosemias;   galactosemia type 1
 primary_id: OMIM:230400
 xref: GARD:13639;   NCI:C99104;   ORDO:79239
For additional species annotation, visit the Alliance of Genome Resources.


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classic galactosemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Galt galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: Galactosemia, classic
ClinVar Annotator: match by term: Galactose-1-phosphate uridyltransferase deficiency
ClinVar
OMIM
PMID:2011574, PMID:4759900, PMID:7550229, PMID:8198125, PMID:8892021, PMID:9012409, PMID:9222760, PMID:9450900, PMID:10424825, PMID:10649501, PMID:11152465, PMID:11261429, PMID:11286503, PMID:11479743, PMID:11754113, PMID:19224951, PMID:19581158, PMID:20301691, PMID:21228398, PMID:22963887, PMID:24718839, PMID:25087612, PMID:25473725, PMID:25592817, PMID:25614870, PMID:25741868, PMID:28492532, PMID:29261178 NCBI chr 5:58,144,679...58,147,946
Ensembl chr 5:58,144,705...58,147,929
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Nutritional and Metabolic Diseases 4725
      disease of metabolism 4725
        inherited metabolic disorder 2231
          Metabolic Brain Diseases, Inborn 502
            galactosemia 10
              classic galactosemia 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            Metabolic Brain Diseases 573
              Metabolic Brain Diseases, Inborn 502
                galactosemia 10
                  classic galactosemia 1
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.