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| Term | N-acetylglutamate synthase deficiency | ID (Ontology) | DOID:0112258 (Human Disease) |
| 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. | ||
| Also Known As | "hyperammonemia due to N-acetylglutamate synthase deficiency" ; "N-acetyl glutamate synthetase deficiency" ; "N-acetylglutamate synthetase deficiency" (for all, see Synonyms field below) | ||
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autosomal genetic disease |__autosomal recessive disease__ amino acid metabolic disorder | |__urea cycle disorder__________| N-acetylglutamate synthase deficiency |
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autosomal recessive disease urea cycle disorder |
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GARD:7158 MIM:237310 ORDO:927 |
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