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phenylketonuria

Disease Summary
Associated Targets (4)
Tbio

2

Tclin

1

Tchem

1


GARD Rare
Mondo Description Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients.
Uniprot Description Mildest form of phenylalanine hydroxylase deficiency.
Disease Ontology Description An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional.
Mondo Term and Equivalent IDs
MONDO:0009861:  phenylketonuria
GARD:0007383: 
MESH:D010661: 
NCIT:C81315: 
Orphanet:716: 
SCTID:7573000: 
UMLS:C0031485: