loading...| Preferred Name | classic phenylketonuria | |
| Synonyms |
classic PKU |
|
| Definitions |
Classical phenylketonuria is a severe form of phenylketonuria (PKU) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0019259 |
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| altLabel |
classic PKU |
|
| definition |
Classical phenylketonuria is a severe form of phenylketonuria (PKU) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications. |
|
| has_exact_synonym |
classic PKU |
|
| IAO_0000233 | ||
| label |
classic phenylketonuria |
|
| prefixIRI |
MONDO:0019259 |
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| prefLabel |
classic phenylketonuria |
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| textual definition |
Classical phenylketonuria is a severe form of phenylketonuria (PKU) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications. |
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| subClassOf |