Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023

Id	http://purl.obolibrary.org/obo/MONDO_0009861 http://purl.obolibrary.org/obo/MONDO_0009861
Preferred Name	phenylketonuria
Definitions	Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients.
Synonyms	HPA, non-PKU mild imbecilitus phenylpyruvica oligophrenia phenylpyruvica phenylpyruvic oligophrenia phenylketonuria, maternal oligophrenia Phenylpyruvica PAH deficiency phenylalanine hydroxylase deficiency hyperphenylalaninemia, non-PKU mild phenylalaninemia phenylketonuria PKU See more See less
Type	http://www.w3.org/2002/07/owl#Class

definition	Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients.
altLabel	HPA, non-PKU mild imbecilitus phenylpyruvica oligophrenia phenylpyruvica phenylpyruvic oligophrenia phenylketonuria, maternal oligophrenia Phenylpyruvica PAH deficiency phenylalanine hydroxylase deficiency hyperphenylalaninemia, non-PKU mild phenylalaninemia phenylketonuria PKU See more See less
label	phenylketonuria
prefLabel	phenylketonuria
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/4985 https://github.com/monarch-initiative/mondo/issues/4521
has_related_synonym	HPA, non-PKU mild imbecilitus phenylpyruvica oligophrenia phenylpyruvica phenylpyruvic oligophrenia phenylketonuria, maternal oligophrenia Phenylpyruvica See more See less
prefixIRI	MONDO:0009861
textual definition	Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients.
subClassOf	http://purl.obolibrary.org/obo/MONDO_0017306 http://purl.obolibrary.org/obo/MONDO_0006025
type	http://www.w3.org/2002/07/owl#Class
has_exact_synonym	PAH deficiency phenylalanine hydroxylase deficiency hyperphenylalaninemia, non-PKU mild phenylalaninemia phenylketonuria PKU See more See less

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