loading...| Preferred Name |
carbamoyl phosphate synthetase I deficiency disease |
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| Synonyms |
deficiency disease carbamoyl-phosphate synthetase I deficiency carbamoyl phosphate synthetase I deficiency disease carbamoylphosphate synthetase I deficiency CPS1D CPS I deficiency carbamoyl phosphate synthetase deficiency carbamoyl-phosphate synthase carbamoyl-phosphate synthetase deficiency CPS1 deficiency hyperammonemia due to carbamoyl phosphate synthetase 1 deficiency carbamoyl phosphate synthetase 1 deficiency, hyperammonemia due to carbamoyl phosphate synthetase 1 deficiency carbamyl phosphate synthetase (CPS) deficiency carbamoyl phosphate synthetase I deficiency, hyperammonemia due to CPS 1 deficiency carbamoyl-phosphate synthetase 1 deficiency |
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| Definitions |
Carbamoyl-phosphate synthetase 1 deficiency (CPS1D) is a rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0009376 |
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| has_exact_synonym |
deficiency disease carbamoyl-phosphate synthetase I deficiency carbamoyl phosphate synthetase I deficiency disease carbamoylphosphate synthetase I deficiency CPS1D CPS I deficiency carbamoyl phosphate synthetase deficiency carbamoyl-phosphate synthase carbamoyl-phosphate synthetase deficiency CPS1 deficiency |
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| has_related_synonym |
hyperammonemia due to carbamoyl phosphate synthetase 1 deficiency carbamoyl phosphate synthetase 1 deficiency, hyperammonemia due to carbamoyl phosphate synthetase 1 deficiency carbamyl phosphate synthetase (CPS) deficiency carbamoyl phosphate synthetase I deficiency, hyperammonemia due to CPS 1 deficiency carbamoyl-phosphate synthetase 1 deficiency |
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| IAO_0000233 | ||
| label |
carbamoyl phosphate synthetase I deficiency disease |
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| prefixIRI |
MONDO:0009376 |
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| prefLabel |
carbamoyl phosphate synthetase I deficiency disease |
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| textual definition |
Carbamoyl-phosphate synthetase 1 deficiency (CPS1D) is a rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia. |
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| subClassOf |