loading...| Preferred Name |
phenylketonuria |
| Synonyms |
Folling's disease |
| Definitions |
OMIM mapping confirmed by DO. [SN]. An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional. |
| ID |
http://purl.obolibrary.org/obo/DOID_9281 |
| comment |
OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
GARD:7383 MESH:D010661 ICD9CM:270.1 ORDO:716 SNOMEDCT_US_2022_09_01:297225000 MESH:D017042 UMLS_CUI:C0031485 UMLS_CUI:C0085547 NCI:C81315 OMIM:261600 SNOMEDCT_US_2022_09_01:154735006 |
| 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. |
| has exact synonym |
Folling's disease maternal phenylketonuria phenylalaninemia PKU |
| has_alternative_id |
DOID:14455 |
| has_obo_namespace |
disease_ontology |
| id |
DOID:9281 |
| in_subset | |
| label |
phenylketonuria |
| notation |
DOID:9281 |
| prefLabel |
phenylketonuria |
| subClassOf |