Link to this page
National Drug File - Reference Terminology
Last uploaded:
July 6, 2018
| Id | http://purl.bioontology.org/ontology/NDFRT/N0000002389
http://purl.bioontology.org/ontology/NDFRT/N0000002389
|
|---|---|
| Preferred Name | Phenylketonurias [Disease/Finding] |
| Synonyms |
Phenylketonurias
Phenylketonuria
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
Phenylketonurias
Phenylketonuria
|
|---|---|
| prefLabel | Phenylketonurias [Disease/Finding]
|
| 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 UI | M0016567
|
| MeSH name | Phenylketonurias
|
| type | |
| tui | T047
|
| May be treated by | |
| notation | N0000002389
|
| Semantic type UMLS property | |
| NUI | N0000002389
|
| cui | C0031485
|
| NDFRT kind | DISEASE_KIND
|
| Has contraindicated drug | |
| subClassOf |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |