loading...| Preferred Name |
Phenylketonurias [Disease/Finding] |
|
| Synonyms |
Phenylketonurias Phenylketonuria |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000002389 |
|
| altLabel |
Phenylketonurias Phenylketonuria |
|
| cui |
C0031485 |
|
| Has contraindicated drug |
http://purl.bioontology.org/ontology/NDFRT/N0000165855 http://purl.bioontology.org/ontology/NDFRT/N0000166069 |
|
| May be treated by |
http://purl.bioontology.org/ontology/NDFRT/N0000176128 |
|
| MESH DEFINITION |
A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952). |
|
| MESH DUI |
D010661 |
|
| MeSH name |
Phenylketonurias |
|
| MESH UI |
M0016567 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000002389 |
|
| NUI |
N0000002389 |
|
| prefLabel |
Phenylketonurias [Disease/Finding] |
|
| tui |
T047 |
|
| subClassOf |