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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 16909
    Nutritional and Metabolic Diseases 5213
      disease of metabolism 5213
        inherited metabolic disorder 2355
          Metabolic Brain Diseases, Inborn 516
            galactosemia 10
              classic galactosemia 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        central nervous system disease 10192
          brain disease 9565
            Metabolic Brain Diseases 586
              Metabolic Brain Diseases, Inborn 516
                galactosemia 10
                  classic galactosemia 1
paths to the root