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bn:00012745n
Noun Concept
SYL
No term available
EN
An inherited disorder of metabolism in which the urine has a odor characteristic of maple syrup; if untreated it can lead to mental retardation and death in early childhood WordNet 3.0
Relations
Sources
IS A
EN
ketonuria
EN
genetic disease
EN
rare disease
EN
organic acidemia
GENETIC ASSOCIATION
EN
BCKDHA
EN
DBT
EN
BCKDHB
EN
PPM1K
EN
dihydrolipoamide dehydrogenase
HAS PHENOTYPE
EN
hypertonia
EN
seizure
HEALTH SPECIALTY
EN
endocrinology
NAMED AFTER
EN
maple syrup
SYMPTOMS
ꠛꠣꠁꠔ

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