N-Acetylglutamate Synthase Deficiency
Disease ID: disease_node_20554
Connections displayed (default: 10).
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| Dbxref | GARD:7158, MIM:237310, ORDO:927 |
|---|---|
| Subclassof | DOID_9267, DOID_0050737 |
| Data Source | DOID |
| Synonyms | N-acetyl glutamate synthetase deficiency, N-acetylglutamate synthetase deficiency, NAG synthetase deficiency, NAGS deficiency, hyperammonemia due to N-acetylglutamate synthase deficiency |
| Doid Label | N-acetylglutamate synthase deficiency |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20554 |
| Doid Id | DOID_0112258 |
| Label | N-Acetylglutamate Synthase Deficiency |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Urea Cycle Disorders, Inborn(ID:disease_node_12308) (Disease)