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loading...| Preferred Name |
carbamoyl phosphate synthetase I deficiency disease |
|
| Synonyms |
CPS I deficiency |
|
| Definitions |
OMIM mapping confirmed by DO. [SN]. A urea cycle disorder that involves accumulation of ammonia in the blood. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_9280 |
|
| comment |
OMIM mapping confirmed by DO. [SN]. |
|
| database_cross_reference |
MESH:D020165 SNOMEDCT_US_2023_03_01:765329008 OMIM:237300 UMLS_CUI:C0751753 GARD:7269 NCI:C84612 |
|
| has exact synonym |
CPS I deficiency |
|
| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:9280 |
|
| in_subset | ||
| label |
carbamoyl phosphate synthetase I deficiency disease |
|
| notation |
DOID:9280 |
|
| prefLabel |
carbamoyl phosphate synthetase I deficiency disease |
|
| textual definition |
A urea cycle disorder that involves accumulation of ammonia in the blood. |
|
| subClassOf |
Create mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/DOID_9280 | DOID | SAME_URI | |
| http://purl.obolibrary.org/obo/DOID_9280 | CLO | SAME_URI | |
| http://purl.obolibrary.org/obo/DOID_9280 | BAO | SAME_URI | |
| http://purl.obolibrary.org/obo/DOID_9280 | NIFSTD | SAME_URI | |
| http://purl.obolibrary.org/obo/DOID_9280 | FNS-H | SAME_URI | |
| http://www.ebi.ac.uk/efo/EFO_0007193 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0009376 | MONDO | LOOM | |
| http://purl.obolibrary.org/obo/DOID_9280 | DOID | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0009376 | DOVES | LOOM | |
| http://purl.obolibrary.org/obo/DOID_9280 | BAO | LOOM | |
| http://purl.obolibrary.org/obo/DOID_9280 | NIFSTD | LOOM | |
| http://purl.obolibrary.org/obo/DOID_9280 | FNS-H | LOOM |