Search Ontology:
Human Disease

galactokinase deficiency

Term ID
DOID:14695
Synonyms
  • Galactosemia II
Definition
A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase. http://en.wikipedia.org/wiki/Galactokinase_deficiency
References
  • GARD:2422
  • ICD10CM:E74.29
  • MESH:D005693
  • MIM:230200
  • NCI:C114767
  • SNOMEDCT_US_2023_03_01:124302001
  • UMLS_CUI:C0268155
Ontology
Human Disease   ( DOID:14695 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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