About: Phenylketonuria     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • Phenylketonuria
rdfs:subClassOf
Has_NICHD_Parent
Concept_In_Subset
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Phenylketonuria
UMLS_CUI
  • C0751434
Contributing_Source
  • NICHD
ALT_DEFINITION
  • An inherited disorder that causes a build-up of phenylalanine (an amino acid) in the blood. This can cause mental retardation, behavioral and movement problems, seizures, and delayed development. Using a blood test, PKU can easily be found in newborns, and treatment is a diet low in phenylalanine.NCI-GLOSS
Legacy_Concept_Name
  • Phenylketonuria
FULL_SYN
  • PKUPTNCI-GLOSSCDR0000458041
  • PhenylketonuriaPTNCI
  • Classical PhenylketonuriaPTNICHD
  • PKUSYNICHD
  • PhenylketonuriaPTNICHD
  • phenylketonuriaPTNCI-GLOSSCDR0000446806
DEFINITION
  • A disorder characterized by the body's inability to break down and utilize the essential amino acid phenylalanine.NCI
code
  • C81315
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