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Standards Ontologies Notations
classic galactosemia

Summary
Synonym
  • GALT deficiency
  • galactose-1-phosphate uridyltransferase deficiency
  • galactosemia type 1
Definition
A galactosemia that has_material_basis_in homozygous or compund heterozygous mutation in the GALT gene on chromosome 9p13.3.
Super Class
autosomal recessive disease galactosemia
Disease Ontology
DOID:0111459
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2592 GALT galactose-1-phosphate uridylyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
14430 Galt galactose-1-phosphate uridyl transferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
298003 Galt galactose-1-phosphate uridylyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
33935 Galt Galactose-1-phosphate uridylyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
175506 ZK1058.3 putative galactose-1-phosphate uridylyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
852306 GAL7 UDP-glucose:hexose-1-phosphate uridylyltransferase
The Human Phenotype Ontology
Displaying entries 61 - 64 of 64 in total
HPO ID HPO Term
HP:0004918 Hyperchloremic metabolic acidosis
HP:0012023 Galactosuria
HP:0012024 Hypergalactosemia
HP:0012592 Albuminuria
Displaying 1 entry
Gene ID Gene Symbol Description
2592 GALT galactose-1-phosphate uridylyltransferase
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024