WormBase Tree Display for DO_term: DOID:9281
expand all nodes | collapse all nodes | view schema
| DOID:9281 | Name | phenylketonuria | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Alternate_id | DOID:14455 | ||||
| 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. | ||||
| Comment | OMIM mapping confirmed by DO. | ||||
| Synonym | Exact | Folling's disease | |||
| PKU | |||||
| maternal phenylketonuria | |||||
| phenylalaninemia | |||||
| Parent | Is_a | DOID:9252 | |||
| DB_info | Database | OMIM | disease | 261600 | |
| Disease_model_annotation | WBDOannot00000239 | ||||
| WBDOannot00000626 | |||||
| Attribute_of | Gene_by_biology | WBGene00000253 | |||
| WBGene00000240 | |||||
| Gene_by_orthology | WBGene00000240 | ||||
| WBGene00011398 | |||||
| WBGene00015010 | |||||
| Disease_model_variation | WBVar00249560 | ||||
| Disease_model_genotype | WBGenotype00000015 |
