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loading...| Preferred Name |
Carbamoyl_Phosphate_Synthetase_Deficiency |
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| Synonyms |
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| ID |
http://www.owl-ontologies.com/Ontology1358660052.owl#Carbamoyl_Phosphate_Synthetase_Deficiency |
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| ID |
C84612 |
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| NCI_Definition |
A congenital disorder caused by mutations in the CPS1 gene. It is characterized by accumulation of ammonia in the blood. Signs and symptoms appear in infancy and include lethargy, seizures, developmental delay and mental disability. |
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| NCI_PT |
Carbamoyl-Phosphate Synthetase I Deficiency |
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| NICHD_Definition |
_ |
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| prefixIRI |
Carbamoyl_Phosphate_Synthetase_Deficiency |
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| prefLabel |
Carbamoyl_Phosphate_Synthetase_Deficiency |
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| Subset_Association1 |
NICHD Pediatric Terminology |
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| Subset_Association2 |
Neonatal Research Network Terminology |
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| SYN | ||
| subClassOf |
http://www.owl-ontologies.com/Ontology1358660052.owl#Urea_Cycle_Metabolism_Disorder |
Create mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://nanbyodata.jp/ontology/NANDO_2200478 | NANDO | LOOM | |
| http://purl.bioontology.org/ontology/CSP/1849-9548 | CRISP | LOOM | |
| http://www.limics.org/hrdo/rdfns#pat_id_461 | HRDO | LOOM | |
| http://purl.bioontology.org/ontology/MEDDRA/10058297 | MEDDRA | LOOM |