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loading...| Preferred Name |
Inborn Urea Cycle Disorder |
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| Synonyms |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Inborn_Urea_Cycle_Disorder |
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| DEFINITION |
A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body. |
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| isDefinedBy |
A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body. |
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| label |
Inborn Urea Cycle Disorder |
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| prefixIRI |
Thesaurus:Inborn_Urea_Cycle_Disorder |
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| prefLabel |
Inborn Urea Cycle Disorder |
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| subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Rare_Non-Neoplastic_Disorder http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Inborn_Errors_of_Metabolism |
Create mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://www.owl-ontologies.com/NPOntology.owl#DOID_9267 | NATPRO | LOOM | |
| http://purl.obolibrary.org/obo/DOID_9267 | CLO | LOOM | |
| http://purl.bioontology.org/ontology/CSP/1849-9321 | CRISP | LOOM |