WormBase Tree Display for DO_term: DOID:9280
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| DOID:9280 | Name | carbamoyl phosphate synthetase I deficiency disease | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A urea cycle disorder that involves accumulation of ammonia in the blood. | ||||
| Comment | OMIM mapping confirmed by DO. | ||||
| Synonym | Exact | CPS I deficiency | |||
| Parent | Is_a | DOID:9267 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 237300 | |
| Disease_model_annotation | WBDOannot00000316 | ||||
| Attribute_of | Gene_by_biology | WBGene00004259 | |||
| Disease_model_variation | WBVar00054697 |
