Preferred Name |
N-acetylglutamate synthase deficiency |
|
Synonyms |
N-acetylglutamate synthetase deficiency |
|
Definitions |
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. |
|
ID |
http://purl.obolibrary.org/obo/DOID_0112258 |
|
database_cross_reference |
GARD:7158 MIM: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 the NAGS gene on chromosome 17q21.31. |
|
has exact synonym |
N-acetylglutamate synthetase deficiency NAG synthetase deficiency NAGS deficiency N-acetyl glutamate synthetase deficiency hyperammonemia due to N-acetylglutamate synthase deficiency |
|
has material basis in | ||
has_obo_namespace |
disease_ontology |
|
id |
DOID:0112258 |
|
in_subset | ||
label |
N-acetylglutamate synthase deficiency |
|
notation |
DOID:0112258 |
|
prefLabel |
N-acetylglutamate synthase deficiency |
|
subClassOf |