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loading...| Preferred Name |
Urea Cycle Metabolism Disorder |
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| Synonyms |
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| 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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| ID |
http://purl.obolibrary.org/obo/NCIT_C84785 |
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| code |
C84785 |
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| Contributing_Source |
NICHD |
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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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| in_subset | ||
| label |
Urea Cycle Metabolism Disorder |
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| Preferred_Name |
Urea Cycle Metabolism Disorder |
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| prefixIRI |
NCIT:C84785 |
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| prefLabel |
Urea Cycle Metabolism Disorder |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0154246 |
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| subClassOf |