| Metadata | |
|---|---|
| ID | DOID:9281 |
| Name | phenylketonuria |
| Definition | An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional. http://en.wikipedia.org/wiki/Phenylketonuria, https://www.genome.gov/Genetic-Disorders/Phenylketonuria |
| Xrefs |
SNOMEDCT_US_2023_03_01:154735006 SNOMEDCT_US_2023_03_01:297225000 |
| Alternateids |
DOID:14455 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Folling's disease [EXACT] maternal phenylketonuria [EXACT] phenylalaninemia [EXACT] PKU [EXACT] |
| Parent Relationships |