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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:
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
Orphanet:79254
MONDO:0019259
High level summary of knowledge for a disease, including descriptions and datasource references.