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loading...| Preferred Name | Classical_Phenylketonuria | |
| Synonyms |
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| ID |
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Classical_Phenylketonuria |
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| CUI |
D0000487 |
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| prefixIRI |
ESSO:Classical_Phenylketonuria |
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| prefLabel |
Classical_Phenylketonuria |
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| sources |
ILAE 1989 The classical phenylketonuria can express itself as a West syndrome. A variant of phenylketonuria with biopterins deficiency causes seizures starting in the second 6 months of life in infants who have been hypotonic since birth. The seizures are generalized motor seizures associated with erratic myoclonic jerks and oculogyric seizures. |
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| subClassOf |
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Phenylketonuria |
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