ZFIN Human Disease: N-acetylglutamate synthase deficiency

OBO ID: DOID:0112258

Term Name:	N-acetylglutamate synthase deficiency		Search Ontology:
Synonyms:	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 )

Relationships

is a type of:	autosomal recessive disease urea cycle disorder autosomal recessive disease urea cycle disorder Show first 5 Terms

OTHER N-acetylglutamate synthase deficiency PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
NAGS	nags	N-acetylglutamate synthase deficiency	237310

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None