loading...| Preferred Name |
Carbamoyl-Phosphate Synthase I Deficiency Disease [Disease/Finding] |
|
| Synonyms |
Carbamoyl-Phosphate Synthase I Deficiency Disease |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000004015 |
|
| altLabel |
Carbamoyl-Phosphate Synthase I Deficiency Disease Carbamoylphosphate Synthetase 1 Deficiency Disease - Carbamoyl-Phosphate Synthase 1 Deficiency Disease Carbamoyl-Phosphate Synthase I Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency) Carbamoyl-Phosphate Synthetase I Deficiency Disease Carbamyl-Phosphate Synthetase 1 Deficiency Disease Carbamoyl Phosphate Synthase (Ammonia) Deficiency Disease Carbamoylphosphate Synthetase I Deficiency Disease Carbamyl Phosphate Synthetase Deficiency Disease Carbamoyl-Phosphate Synthase 1 Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency) Carbamyl-Phosphate Synthetase I Deficiency Disease |
|
| cui |
C0751753 |
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| MESH DEFINITION |
A urea cycle disorder manifesting in infancy as lethargy, emesis, seizures, alterations of muscle tone, abnormal eye movements, and an elevation of serum ammonia. The disorder is caused by a reduction in the activity of hepatic mitochondrial CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA). (Menkes, Textbook of Child Neurology, 5th ed, pp50-1) |
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| MESH DUI |
D020165 |
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| MeSH name |
Carbamoyl-Phosphate Synthase I Deficiency Disease |
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| MESH UI |
M0328185 |
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| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000004015 |
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| NUI |
N0000004015 |
|
| prefLabel |
Carbamoyl-Phosphate Synthase I Deficiency Disease [Disease/Finding] |
|
| tui |
T047 |
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| subClassOf |