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Experimental Factor Ontology
Last uploaded:
January 16, 2025
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| Id | http://www.orpha.net/ORDO/Orphanet_79254
http://www.orpha.net/ORDO/Orphanet_79254
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|---|---|
| Preferred Name | Classical phenylketonuria |
| 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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| Synonyms |
Classical PKU
Classic phenylketonuria
Classic PKU
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition_citation | orphanet |
|---|---|
| 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. |
| preferred label |
Classical phenylketonuria
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| label |
Classical phenylketonuria
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| prefLabel |
Classical phenylketonuria
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| database_cross_reference |
ICD10:E70.0
MedDRA:10034875
UMLS:C0751434
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| subClassOf | |
| type | |
| has_exact_synonym |
Classical PKU
Classic phenylketonuria
Classic PKU
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