Search Ontology:
Human Disease
N-acetylglutamate synthase deficiency
- Term ID
- DOID:0112258
- Synonyms
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- hyperammonemia due to N-acetylglutamate synthase deficiency
- N-acetyl glutamate synthetase deficiency
- N-acetylglutamate synthetase deficiency
- NAG synthetase deficiency
- NAGS deficiency
- 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. (2)
- References
-
- GARD:7158
- OMIM:237310
- ORDO:927
- Ontology
- Human Disease ( DOID:0112258 )
- is a type of
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