loading...| Preferred Name |
N-acetylglutamate synthase deficiency |
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| Synonyms |
N-acetyl glutamate synthetase deficiency hyperammonemia due to N-acetylglutamate synthase deficiency N-acetylglutamate synthetase deficiency NAG synthetase deficiency NAGS deficiency |
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| 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. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0112258 |
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| database_cross_reference |
OMIM:237310 GARD:7158 ORDO:927 |
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| has exact synonym |
N-acetyl glutamate synthetase deficiency hyperammonemia due to N-acetylglutamate synthase deficiency N-acetylglutamate synthetase deficiency NAG synthetase deficiency NAGS deficiency |
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| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0112258 |
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| in_subset | ||
| label |
N-acetylglutamate synthase deficiency |
|
| notation |
DOID:0112258 |
|
| prefLabel |
N-acetylglutamate synthase deficiency |
|
| textual 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. |
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| subClassOf |