Preferred Name | N-acetylglutamate synthase deficiency | |
Synonyms |
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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 NAGS on chromosome 17q21.31. |
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ID |
http://purl.obolibrary.org/obo/DOID_0112258 |
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definition |
A urea cycle disorder characterized by accumulation of ammonia in the blood that has_material_basis_in homozygous or compound heterozygous mutation in NAGS on chromosome 17q21.31. |
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imported from | ||
label |
N-acetylglutamate synthase deficiency |
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prefixIRI |
DOID:0112258 |
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prefLabel |
N-acetylglutamate synthase deficiency |
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subClassOf |
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