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National Cancer Institute Thesaurus
Last uploaded:
February 23, 2024
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| Id | http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C81315
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C81315
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|---|---|
| Preferred Name | Phenylketonuria |
| Definitions |
An autonomic recessive genetic disorder characterized by the body's inability to metabolize and utilize the amino acid phenylalanine, resulting in mental retardation, behavioral and movement problems, seizures, and developmental delays.
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| Synonyms |
phenylketonuria
Phenylketonuria
PKU
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| label |
Phenylketonuria
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|---|---|
| Legacy Concept Name |
Phenylketonuria
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| Preferred_Name |
Phenylketonuria
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| Semantic_Type |
Disease or Syndrome
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| prefixIRI |
Thesaurus:C81315
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| DEFINITION |
An autonomic recessive genetic disorder characterized by the body's inability to metabolize and utilize the amino acid phenylalanine, resulting in mental retardation, behavioral and movement problems, seizures, and developmental delays.
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| UMLS_CUI |
C0031485
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| code |
C81315
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| subClassOf | |
| type | |
| FULL_SYN |
phenylketonuria
Phenylketonuria
PKU
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| 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.
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| Contributing_Source |
Cellosaurus
NICHD
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| Concept_In_Subset |
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