Disease association ontology term - MONDO:0017690 - disorder of galactose metabolism
Term summary
ID
MONDO:0017690
Name
disorder of galactose metabolism
Ontology or CV name
Disease association
Parents
is_a
inborn carbohydrate metabolic disorder
Annotation
Disease association
MONDO:0009258
-
classic galactosemia
References:
PB_REF:0000006
Genes:
gal7 (SPBPB2B2.10c)
MONDO:0009255
-
galactokinase deficiency
References:
PB_REF:0000003
Genes:
gal1 (SPBPB2B2.13)
MONDO:0009257
-
galactose epimerase deficiency
References:
PB_REF:0000006
Genes:
gal10 (SPBPB2B2.12c)
uge1 (SPBC365.14c)
MONDO:0018116
-
galactosemia
References:
PB_REF:0000003
PB_REF:0000006
Genes:
gal10 (SPBPB2B2.12c)
gal7 (SPBPB2B2.10c)
uge1 (SPBC365.14c)
