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Cell Culture Ontology
Last uploaded:
July 23, 2014
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| Id | http://purl.obolibrary.org/obo/MONDO_0004739
http://purl.obolibrary.org/obo/MONDO_0004739
|
|---|---|
| Preferred Name | urea cycle disorder |
| Definitions |
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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| Synonyms |
disorder of urea cycle metabolism and ammonia detoxification
UCD
inborn urea cycle disorder
inborn disorder of urea cycle metabolism and ammonia detoxification
urea cycle defect
disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia
urea cycle metabolism disorder
disorder of urea cycle metabolism
urea cycle disorders
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| 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. |
|---|---|
| preferred label |
urea cycle disorder
|
| label |
urea cycle disorder
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| prefLabel |
urea cycle disorder
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| database_cross_reference |
MESH:D056806
MEDGEN:57586
SCTID:36444000
NANDO:1200802
Orphanet:79167
UMLS:C0154246
NCIT:C84785
DOID:9267
GARD:7837
ICD9:270.6
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|
| notation |
MONDO:0004739
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| in_subset | |
| has_related_synonym |
disorder of urea cycle metabolism and ammonia detoxification
UCD
|
| id |
MONDO:0004739
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| skos_exactMatch |
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|
| subClassOf | |
| type | |
| has_exact_synonym |
inborn urea cycle disorder
inborn disorder of urea cycle metabolism and ammonia detoxification
urea cycle defect
disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia
urea cycle metabolism disorder
disorder of urea cycle metabolism
urea cycle disorders
See more
See less
|
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