Preferred Name | Classical phenylketonuria | |
Synonyms |
Classical PKU Classic phenylketonuria Classic PKU |
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Definitions |
Classical phenylketonuria is a severe form of phenylketonuria (PKU, see this term) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications. |
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ID |
http://www.orpha.net/ORDO/Orphanet_79254 |
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database_cross_reference |
ICD10:E70.0 MedDRA:10034875 UMLS:C0751434 |
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definition |
Classical phenylketonuria is a severe form of phenylketonuria (PKU, see this term) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications. |
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definition_citation |
orphanet |
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has_exact_synonym |
Classical PKU Classic phenylketonuria Classic PKU |
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label |
Classical phenylketonuria |
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preferred label |
Classical phenylketonuria |
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prefLabel |
Classical phenylketonuria |
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subClassOf |
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