Login Preferences
About News Publications Statistics Downloads API Guide License How to use Preferences
bn:03112248n
Noun Concept
FR
déficit en 6-pyruvoyl-tétrahydroptérine synthase
EN
6-Pyruvoyltetrahydropterin synthase deficiency is an autosomal recessive disorder that causes malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Wikipedia
Relations
Sources
IS A
Maladie génétique
maladie rare
hyperphénylalaninémie
enzymopathie
GENETIC ASSOCIATION
PTS
Wikidata
FR
déficit en 6-pyruvoyl-tétrahydroptérine synthase

Please note that, in order to improve your browsing experience on this website, BabelNet® uses various types of cookies, including: browsing functionality, performance and statistical cookies.

By continuing to browse the site you are agreeing to our use of cookies. OK

License