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loading...| Preferred Name |
N-acetylglutamate synthase deficiency |
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| 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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