loading...| Preferred Name | Phenylketonuria | |
| Synonyms |
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| 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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| ID |
http://purl.obolibrary.org/obo/NCIT_C81315 |
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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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| code |
C81315 |
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| Contributing_Source |
Cellosaurus NICHD |
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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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| in_subset |
http://purl.obolibrary.org/obo/NCIT_C90259 |
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| label |
Phenylketonuria |
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| Legacy Concept Name |
Phenylketonuria |
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| Preferred_Name |
Phenylketonuria |
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| prefixIRI |
NCIT:C81315 |
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| prefLabel |
Phenylketonuria |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0031485 |
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| subClassOf |