About: Phenylketonuria

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An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
rdf:type	Class
rdfs:label	Phenylketonuria
rdfs:subClassOf	Amino Acid Metabolism, Inborn Errors
Has_NICHD_Parent	Autosomal Recessive Inherited Disorder Amino Acid Metabolism, Inborn Errors
Concept_In_Subset	NICHD Terminology NICHD Newborn Screening Terminology NICHD Pediatric Terminology Neonatal Research Network Terminology
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
http://linked.open...y/mesh/hasConcept	http://linked.opendata.cz/resource/mesh/concept/M0335854

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