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Disease Ontology Browser
N-acetylglutamate synthase deficiency (DOID:0112258)
Alliance: disease page
Synonyms: 'hyperammonemia due to N-acetylglutamate synthase deficiency'; 'N-acetyl glutamate synthetase deficiency'; 'N-acetylglutamate synthetase deficiency'; 'NAG synthetase deficiency'; 'NAGS deficiency'
Alt IDs: OMIM:237310, ORDO:927
Definition: A urea cycle disorder characterized by accumulation of ammonia in the blood that has_material_basis_in homozygous or compound heterozygous mutation in NAGS on chromosome 17q21.31.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
06/23/2022
MGI 6.20
The Jackson Laboratory