loading...| Preferred Name |
hyperphenylalaninemia |
|
| Synonyms |
phenylalaninemia |
|
| 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. |
|
| ID |
http://purl.bioontology.org/ontology/CSP/1849-1177 |
|
| altLabel |
phenylalaninemia |
|
| cui |
C0751435 C0031485 |
|
| 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. |
|
| DID |
1849-1177 |
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| Inverse of RB | ||
| Inverse of RO | ||
| notation |
1849-1177 |
|
| prefLabel |
hyperphenylalaninemia |
|
| tui |
T047 |
|
| subClassOf |