WormBase Tree Display for DO_term: DOID:0112258
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| DOID:0112258 | Name | N-acetylglutamate synthase deficiency | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A urea cycle disorder characterized by accumulation of ammonia in the blood that has_material_basis_in homozygous or compound heterozygous mutation in the NAGS gene on chromosome 17q21.31. | ||||
| Synonym | Exact | N-acetyl glutamate synthetase deficiency | |||
| N-acetylglutamate synthetase deficiency | |||||
| NAG synthetase deficiency | |||||
| NAGS deficiency | |||||
| hyperammonemia due to N-acetylglutamate synthase deficiency | |||||
| Parent | Is_a | DOID:9267 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 237310 |
