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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:galactosemia
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Accession:DOID:9870 term browser browse the term
Definition:A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues. (DO)
Synonyms:exact_synonym: DEFICIENCY OF UDPGLUCOSE-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE;   UDPGlucose Hexose 1 Phosphate Uridylyltransferase Deficiency;   UTP Hexose 1 Phosphate Uridylyltransferase Deficiency;   UTP Hexose 1 Phosphate Uridylyltransferase Deficiency Disease;   galactosaemia;   galactose intolerance;   galactosemias
 narrow_synonym: GALACTOSEMIA, CLASSIC GALACTOSEMIA, DUARTE VARIANT;   Hereditary Galactokinase Deficiencies;   Hereditary Galactokinase Deficiency
 primary_id: MESH:D005693
 xref: GARD:2424;   ICD10CM:E74.21;   ICD9CM:271.1;   NCI:C84723;   OMIM:PS230400;   ORDO:352
For additional species annotation, visit the Alliance of Genome Resources.



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galactosemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1b1 aldo-keto reductase family 1 member B1 IEP protein:increased expression:endothelial cell, lens RGD PMID:16936110 RGD:1599728 NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157
JBrowse link
G Cryaa crystallin, alpha A IEP mRNA:decreased expression:lens RGD PMID:1707863 RGD:1600994 NCBI chr20:9,783,605...9,787,351
Ensembl chr20:9,783,605...9,787,349
JBrowse link
G Ddit3 DNA-damage inducible transcript 3 IEP Protein:increased expression:lens epithelium RGD PMID:16936110 RGD:1599728 NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201
JBrowse link
G Gale UDP-galactose-4-epimerase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25526675 NCBI chr 5:148,193,886...148,198,392
Ensembl chr 5:148,194,791...148,198,388
JBrowse link
G Galk1 galactokinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7670469 NCBI chr10:101,243,146...101,247,323
Ensembl chr10:101,235,994...101,247,337
JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | ClinVar Annotator: match by term: Galactosemia
CTD
ClinVar
PMID:1301925 PMID:1373122 PMID:1427861 PMID:1610789 PMID:1766867 More... NCBI chr 5:56,927,039...56,930,284
Ensembl chr 5:56,926,724...56,930,265
JBrowse link
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:11286505 PMID:15841485 PMID:17079880 PMID:22944367 PMID:28492532 NCBI chr 5:56,931,824...56,941,408
Ensembl chr 5:56,935,516...56,941,408
JBrowse link
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 I OMIM
ClinVar
PMID:2011574 PMID:4759900 PMID:7550229 PMID:8198125 PMID:8892021 More... NCBI chr 5:56,927,039...56,930,284
Ensembl chr 5:56,926,724...56,930,265
JBrowse link
galactokinase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Galk1 galactokinase 1 ISO ClinVar Annotator: match by term: Deficiency of galactokinase OMIM
ClinVar
PMID:7670469 PMID:10521295 PMID:10570908 PMID:10790206 PMID:11139256 More... NCBI chr10:101,243,146...101,247,323
Ensembl chr10:101,235,994...101,247,337
JBrowse link
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Deficiency of galactokinase ClinVar PMID:10790206 PMID:25741868 PMID:28492532 NCBI chr10:101,206,657...101,243,012
Ensembl chr10:101,206,665...101,243,012
JBrowse link
galactose epimerase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gale UDP-galactose-4-epimerase ISO ClinVar Annotator: match by term: UDPglucose-4-epimerase deficiency OMIM
ClinVar
PMID:6408303 PMID:7305435 PMID:9326324 PMID:9536098 PMID:9538513 More... NCBI chr 5:148,193,886...148,198,392
Ensembl chr 5:148,194,791...148,198,388
JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO ClinVar Annotator: match by term: UDPglucose-4-epimerase deficiency ClinVar NCBI chr 5:148,178,203...148,192,072
Ensembl chr 5:148,178,252...148,192,068
JBrowse link
Galactosemia IV term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Galm galactose mutarotase ISO ClinVar Annotator: match by term: GALACTOSE MUTAROTASE DEFICIENCY | ClinVar Annotator: match by term: GALACTOSEMIA IV OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:30451973 PMID:30910422 NCBI chr 6:14,837,540...14,889,484
Ensembl chr 6:14,837,548...14,889,310
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    Nutritional and Metabolic Diseases 6757
      disease of metabolism 6757
        inherited metabolic disorder 4663
          carbohydrate metabolic disorder 2561
            galactosemia 10
              Galactosemia IV 1
              classic galactosemia 1
              galactokinase deficiency 2
              galactose epimerase deficiency 2
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      nervous system disease 13174
        central nervous system disease 11297
          brain disease 10584
            Metabolic Brain Diseases 855
              Metabolic Brain Diseases, Inborn 743
                galactosemia 10
                  Galactosemia IV 1
                  classic galactosemia 1
                  galactokinase deficiency 2
                  galactose epimerase deficiency 2
paths to the root