loading...| Preferred Name | Urea Cycle Disorders, Inborn [Disease/Finding] | |
| Synonyms |
Urea Cycle Disorders, Inborn Inborn Urea Cycle Disorder Urea Cycle Disorders |
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| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000181054 |
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| altLabel |
Urea Cycle Disorders, Inborn Inborn Urea Cycle Disorder Urea Cycle Disorders |
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| cui |
C0154246 |
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| MESH DEFINITION |
Rare congenital metabolism disorders of the urea cycle. The disorders are due to mutations that result in complete (neonatal onset) or partial (childhood or adult onset) inactivity of an enzyme, involved in the urea cycle. Neonatal onset results in clinical features that include irritability, vomiting, lethargy, seizures, NEONATAL HYPOTONIA; RESPIRATORY ALKALOSIS; HYPERAMMONEMIA; coma, and death. Survivors of the neonatal onset and childhood/adult onset disorders share common risks for ENCEPHALOPATHIES, METABOLIC, INBORN; and RESPIRATORY ALKALOSIS due to HYPERAMMONEMIA. |
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| MESH DUI |
D056806 |
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| MeSH name |
Urea Cycle Disorders, Inborn |
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| MESH UI |
M0529166 |
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| NDFRT kind |
DISEASE_KIND |
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| notation |
N0000181054 |
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| NUI |
N0000181054 |
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| prefLabel |
Urea Cycle Disorders, Inborn [Disease/Finding] |
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| tui |
T047 |
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| subClassOf |