FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term galactosemia ID (Ontology) DOID:9870 (Human Disease)
Definition A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues.
Also Known As "Galactosaemia" ; "Galactose intolerance"
Comment
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DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS      14
Human Disease Models (FBhh)  DOID       1
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Relevant FlyBase reports
 Alleles Genes Human Disease Models
 galactosemia      14      5      1
 ameliorates | galactosemia       3       --       --
 exacerbates | galactosemia       4       --       --
 model of | galactosemia       9       --       --
Spanning Tree (Parents/Children)
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  inherited metabolic disorder
   |__carbohydrate metabolic disorder
       |__galactosemia  32 rec.
           |__classic galactosemia 9 rec.
           |__galactokinase deficiency 1 rec.
           |__galactose epimerase deficiency 2 rec.
           |__galactosemia 4 5 rec.
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Is a carbohydrate metabolic disorder
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Synonyms
  • "Galactosaemia" EXACT
    "Galactose intolerance" EXACT
Secondary IDs
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GARD:2424
ICD10CM:E74.21
ICD9CM:271.1
MESH:D005693
NCI:C84723
SNOMEDCT_US_2023_03_01:38177000
UMLS_CUI:C0016952