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Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/1849-0778
http://purl.bioontology.org/ontology/CSP/1849-0778
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|---|---|
| Preferred Name | histidinemia |
| Definitions |
autosomal recessive aminoacidopathy due to deficiency of histidine ammonia-lyase; characterized by accumulation of histidine in serum and urinary excretion of histidine and metabolites, but is usually benign; may cause mild central nervous system dysfunction.
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | autosomal recessive aminoacidopathy due to deficiency of histidine ammonia-lyase; characterized by accumulation of histidine in serum and urinary excretion of histidine and metabolites, but is usually benign; may cause mild central nervous system dysfunction. |
|---|---|
| prefLabel | histidinemia
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| Inverse of RO | |
| type | |
| tui | T047
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| notation | 1849-0778
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| Semantic type UMLS property | |
| DID | 1849-0778
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| cui | C0220992
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| Inverse of RB | |
| subClassOf |
| Delete | Subject | Author | Type | Created |
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| No notes to display |