FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term classic galactosemia ID (Ontology) DOID:0111459 (Human Disease)
Definition A galactosemia that has_material_basis_in homozygous or compound heterozygous mutation in the GALT gene on chromosome 9p13.3.
Also Known As "galactose-1-phosphate uridyltransferase deficiency" ; "galactosemia type 1" ; "GALT deficiency"
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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       4
Human Disease Models (FBhh)  DOID       1
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Alleles Genes Human Disease Models
 classic galactosemia       4      4      1
 ameliorates | classic galactosemia       1       --       --
 exacerbates | classic galactosemia       1       --       --
 for disease ribbon | classic galactosemia       --       1       --
 model of | classic galactosemia       2      1       --
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal recessive disease__
carbohydrate metabolic disorder  |
 |__galactosemia_________________|
                                 classic galactosemia  9 rec.
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Is a autosomal recessive disease
galactosemia
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Synonyms
  • "galactose-1-phosphate uridyltransferase deficiency" EXACT
    "galactosemia type 1" EXACT
    "GALT deficiency" EXACT
Secondary IDs
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GARD:13639
MESH:D005693
MIM:230400
NCI:C99104
ORDO:79239
SNOMEDCT_US_2023_03_01:398664009
UMLS_CUI:C0268151