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bn:00037045n
Noun Concept
SYL
No term available
EN
A genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent; typically develops shortly after birth WordNet 3.0
Relations
Sources
IS A
EN
inborn error of metabolism
EN
rare disease
EN
Inborn errors of carbohydrate metabolism
HAS KIND
EN
galactokinase deficiency
EN
galactose epimerase deficiency
EN
Galactose-1-phosphate uridylyltransferase deficiency
EN
galactosemic cataract
GENETIC ASSOCIATION
EN
galactose-1-phosphate uridylyltransferase
HEALTH SPECIALTY
EN
endocrinology
SYMPTOMS
EN
lactose intolerance

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