Phenylketonuria, Maternal
Disease ID: disease_node_9003
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| Dbxref | GARD:7383, ICD9CM:270.1, MESH:D010661, MESH:D017042, MIM:261600, NCI:C81315, ORDO:716, SNOMEDCT_US_2023_03_01:154735006, SNOMEDCT_US_2023_03_01:297225000, UMLS_CUI:C0031485, UMLS_CUI:C0085547 |
|---|---|
| Subclassof | DOID_9252 |
| Data Source | DOID, MESH |
| Synonyms | Folling's disease, PKU, maternal phenylketonuria, phenylalaninemia |
| Mesh Id | D017042 |
| Mesh Label | Phenylketonuria, Maternal |
| Mesh Subclassof | D011248, D010661 |
| Doid Label | phenylketonuria |
| Doid Description | An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional. OMIM mapping confirmed by DO. [SN]. |
| Disease Node Id | disease_node_9003 |
| Doid Id | DOID_9281 |
| Label | Phenylketonuria, Maternal |
| Doid Alternate Ids | DOID_14455 |
- Outgoing r'ship
SUBCLASS_OFto/from Amino Acid Metabolism, Inborn Errors(ID:disease_node_1143) (Disease)