loading...| Preferred Name |
phenylketonuria |
|
| Synonyms |
PAH deficiency phenylalanine hydroxylase deficiency hyperphenylalaninemia, non-PKU mild phenylalaninemia phenylketonuria PKU HPA, non-PKU mild imbecilitus phenylpyruvica oligophrenia phenylpyruvica phenylpyruvic oligophrenia phenylketonuria, maternal oligophrenia Phenylpyruvica |
|
| 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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0009861 |
|
| has_exact_synonym |
PAH deficiency phenylalanine hydroxylase deficiency hyperphenylalaninemia, non-PKU mild phenylalaninemia phenylketonuria PKU |
|
| has_related_synonym |
HPA, non-PKU mild imbecilitus phenylpyruvica oligophrenia phenylpyruvica phenylpyruvic oligophrenia phenylketonuria, maternal oligophrenia Phenylpyruvica |
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| IAO_0000233 | ||
| label |
phenylketonuria |
|
| prefixIRI |
MONDO:0009861 |
|
| prefLabel |
phenylketonuria |
|
| 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. |
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| subClassOf |