Cell Culture Ontology

Last uploaded: July 23, 2014
Preferred Name

Classical phenylketonuria
Synonyms

Classical PKU

Classic phenylketonuria

Classic PKU

Definitions

Classical phenylketonuria is a severe form of phenylketonuria (PKU, see this term) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications.

ID

http://www.orpha.net/ORDO/Orphanet_79254

database_cross_reference

ICD10:E70.0

MedDRA:10034875

UMLS:C0751434

definition

Classical phenylketonuria is a severe form of phenylketonuria (PKU, see this term) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications.

definition_citation

orphanet

has_exact_synonym

Classical PKU

Classic phenylketonuria

Classic PKU

label

Classical phenylketonuria

preferred label

Classical phenylketonuria

prefLabel

Classical phenylketonuria

subClassOf

http://www.orpha.net/ORDO/Orphanet_79190

http://www.orpha.net/ORDO/Orphanet_71859

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