Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Summary Literature (0)
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: hyperammonemia due to N-acetylglutamate synthase deficiency, N-acetyl glutamate synthetase deficiency, N-acetylglutamate synthetase deficiency, NAGS deficiency, NAG synthetase deficiency

Xenbase Genes : nags


MIM:
MIM:237310 - N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY; NAGSD

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), urea cycle disorder (is_a)