FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term galactokinase deficiency ID (Ontology) DOID:14695 (Human Disease)
Definition A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase.
Also Known As "Galactosemia II"
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DO.org
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 Genes
 galactokinase deficiency       1
 for disease ribbon | galactokinase deficiency       1
 model of | galactokinase deficiency       1
Spanning Tree (Parents/Children)
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  carbohydrate metabolic disorder
   |__galactosemia
       |__galactokinase deficiency  1 rec.
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Is a galactosemia
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Synonyms
  • "Galactosemia II" EXACT
Secondary IDs
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GARD:2422
ICD10CM:E74.29
MESH:D005693
MIM:230200
NCI:C114767
SNOMEDCT_US_2023_03_01:124302001
UMLS_CUI:C0268155