OBO ID: DOID:9870
Term Name: galactosemia Search Ontology:
Synonyms:
  • Galactosaemia
  • Galactose intolerance
Definition: A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues. http://en.wikipedia.org/wiki/Galactosemia
References:
  • GARD:2424
  • ICD10CM:E74.21
  • ICD9CM:271.1
  • MESH:D005693
  • NCI:C84723
  • SNOMEDCT_US_2023_03_01:38177000
  • UMLS_CUI:C0016952
Ontology: Human Disease   ( DOID:9870 )
OTHER galactosemia PAGES
GENES INVOLVED No data available
PHENOTYPE No data available

CITATIONS (1)