Statements in which the resource exists as a subject.
PredicateObject
rdf:type
calbc:hasCorrelation
skos:definition
CSP: any of several autosomal recessive defects in the hydroxylation of phenylalanine resulting in accumulation and excretion of dietary phenylalanine; most commonly the defect is in the enzyme phenylalanine 4-monooxygenase; the most severe manifestation of this is classic PHENYLKETONURIA, but two benign forms also occur; rarely the defect is one of tetrahydrobiopterin metabolism.
skos:inScheme
skos:broader
skos-xl:prefLabel
skos-xl:altLabel
umls:relation
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