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classic phenylketonuria

Disease Summary
Associated Targets (1)
Tclin

1


Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0019259:  classic phenylketonuria
Orphanet:79254: