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Ontology Browser

galactokinase deficiency (DOID:14695)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
galactosemia +     
classic galactosemia  
galactokinase deficiency  
A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase. (DO)
galactose epimerase deficiency  

Exact Synonyms: GALK deficiencies ;   GALK deficiency ;   deficiency of galactokinase ;   galactokinase deficiencies ;   galactokinase deficiency disease ;   galactokinase deficiency diseases ;   galactokinase deficiency with cataracts ;   galactosemia 2 ;   galactosemia 2s ;   galactosemia II
Primary IDs: OMIM:230200
Alternate IDs: RDO:9002857
Xrefs: GARD:2422 ;   ICD10CM:E74.29 ;   NCI:C114767
Definition Sources:

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.