phenylketonuria

created [InstanceEdit:2160453] D'Eustachio, P, 2012-03-03
databaseName DOID
dbId 2160459
definition An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional.
displayName phenylketonuria
identifier 9281
name
  • phenylketonuria
referenceDatabase [ReferenceDatabase:1247631] DOID
schemaClass Disease
synonym
  • PKU
  • maternal phenylketonuria
  • Følling's disease
  • phenylalaninemia
url https://www.ebi.ac.uk/ols4/ontologies/doid/terms?obo_id=DOID:9281
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