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| Term | urea cycle disorder | ID (Ontology) | DOID:9267 (Human Disease) |
| Definition | An amino acid metabolic disorder that involves a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream. | ||
| Also Known As | "disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia" ; "disorder of urea cycle metabolism" ; "urea cycle defect" | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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inherited metabolic disorder |__amino acid metabolic disorder |__urea cycle disorder 6 rec. |__carbamoyl phosphate synthetase I deficiency disease 1 rec. |__citrullinemia 3 rec. | |__adult-onset type II citrullinemia 1 rec. | |__classic citrullinemia 1 rec. | |__neonatal-onset type II citrullinemia 2 rec. |__hyperargininemia 2 rec. |__N-acetylglutamate synthase deficiency |__ornithine carbamoyltransferase deficiency |
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| Is a | amino acid metabolic disorder | ||
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External Crossreferences & Linkouts
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GARD:7837 ICD10CM:E72.2 ICD9CM:270.6 MESH:D056806 NCI:C84785 SNOMEDCT_US_2023_03_01:36444000 UMLS_CUI:C0154246 |
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