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DO Term : N-acetylglutamate synthase deficiency [DOID:0112258] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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:
NAG synthetase deficiency,
ORDO:927,
hyperammonemia due to N-acetylglutamate synthase deficiency,
GARD:7158,
N-acetylglutamate synthetase deficiency,
OMIM:237310,
NAGS deficiency,
N-acetyl glutamate synthetase deficiency,
237310

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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