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Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/1849-1177
http://purl.bioontology.org/ontology/CSP/1849-1177
|
|---|---|
| Preferred Name | hyperphenylalaninemia |
| Definitions |
any of several autosomal recessive defects in the hydroxylation of phenylalanine resulting in accumulation and excretion of dietary phenylalanine; most commonly the defect is in the enzyme phenylalanine 4-monooxygenase; the most severe manifestation of this is classic PHENYLKETONURIA, but two benign forms also occur; rarely the defect is one of tetrahydrobiopterin metabolism.
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| Synonyms |
phenylalaninemia
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | any of several autosomal recessive defects in the hydroxylation of phenylalanine resulting in accumulation and excretion of dietary phenylalanine; most commonly the defect is in the enzyme phenylalanine 4-monooxygenase; the most severe manifestation of this is classic PHENYLKETONURIA, but two benign forms also occur; rarely the defect is one of tetrahydrobiopterin metabolism. |
|---|---|
| altLabel | phenylalaninemia
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| prefLabel | hyperphenylalaninemia
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| Inverse of RO | |
| type | |
| tui | T047
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| notation | 1849-1177
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| Semantic type UMLS property | |
| DID | 1849-1177
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| cui |
C0751435
C0031485
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| Inverse of RB | |
| subClassOf |
| Delete | Subject | Author | Type | Created |
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