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DOID:0112258 - N-acetylglutamate synthase deficiency
Disease Ontology 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.
Synonyms: N-acetyl glutamate synthetase deficiency, N-acetylglutamate synthetase deficiency, NAG synthetase deficiency, NAGS deficiency, hyperammonemia due to N-acetylglutamate synthase deficiency,
Xenbase Genes
![Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries](img/icons/info1.png)
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee