loading...| Preferred Name |
Carbamoyl-Phosphate Synthase I Deficiency Disease |
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| Synonyms |
|
|
| Definitions |
An amino acid metabolic disorder that involves accumulation of ammonia in the blood. |
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| ID |
http://www.phoc.org.cn/pmo/class/PMO_00036648 |
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| Database_Cross_Reference |
MDR:10071106 MTH:NOCODE LNC:LA12484-4 DO:DOID:9280 CSP:1849-9548 OMIM:237300 NDFRT:N0000004015 NCI_NICHD:C84612 NCI:C84612 MEDCIN:33560 MDR:10058297 OMIM:608307 MSH:D020165 |
|
| Definition |
An amino acid metabolic disorder that involves accumulation of ammonia in the blood. |
|
| label |
Carbamoyl-Phosphate Synthase I Deficiency Disease |
|
| MCID |
MC00258982 |
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| PMOID |
PMO:00036648 |
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| prefixIRI |
pmo:PMO_00036648 |
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| prefLabel |
Carbamoyl-Phosphate Synthase I Deficiency Disease |
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| Synonym |
Carbamoyl-Phosphate Synthetase I Deficiency Disease Carbamyl Phosphate Synthetase 1 Deficiency Disease CPS Carbamyl Phosphate Synthetase Deficiency Disease Carbamoyl-Phosphate Synthase 1 Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency) CARBAMOYLPHOSPHATE SYNTHETASE I DEFIC DIS Carbamyl-Phosphate Synthetase 1 Deficiency Disease Carbamoyl Phosphate Synthetase Deficiency CARBAMOYL PHOSPHATE SYNTHASE I DEFIC DIS CPS I DEFICIENCY carbamyl phosphate synthetase deficiency CARBAMYL PHOSPHATE SYNTHETASE I DEFIC DIS Carbamoyl-Phosphate Synthetase I Deficiency carbamoyl phosphate synthetase deficiency (diagnosis) carbamoyl phosphate synthetase I deficiency disease CARBAMOYL PHOSPHATE SYNTHASE AMMONIA DEFIC DIS Carbamylphosphate synthetase deficiency Carbamoyl phosphate synthetase deficiency Carbamyl-Phosphate Synthetase I Deficiency Disease Carbamoyl-Phosphate Synthase I Deficiency Disease [Disease/Finding] CAPS deficiency CPS I deficiency Carbamoyl Phosphate Synthetase I Deficiency Disease Carbamoyl Phosphate Synthase 1 Deficiency Disease carbamoyl phosphate synthetase deficiency congenital hyperammonemia type I Carbamoylphosphate Synthetase 1 Deficiency Disease Carbamoyl Phosphate Synthase (Ammonia) Deficiency Disease Carbamoyl-Phosphate Synthase 1 Deficiency Disease Carbamoyl-Phosphate Synthase Carbamyl Phosphate Synthetase I Deficiency Disease Carbamoylphosphate Synthetase I Deficiency Disease Carbamoylphosphate Synthetase 1 Deficiency Disease - CARBAMYL PHOSPHATE SYNTHETASE DEFIC DIS Carbamoyl-Phosphate Synthase I Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency) CARBAMOLY PHOSPHATE SYNTHETASE I DEFIC DIS Deficiency Disease CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY Carbamoyl Phosphate Synthase 1 Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency) |
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| Tree Number |
T9.8.4.14.8.11.3 T9.21.15.5.17.2.11.3 T9.8.4.14.6.3.3 T9.11.1.16.6 T9.11.1.12.6.3.3 T9.11.1.6.2.11.3 T9.11.1.12.8.11.3 |
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| subClassOf |