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Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/1849-1120
http://purl.bioontology.org/ontology/CSP/1849-1120
|
|---|---|
| Preferred Name | methylmalonic aciduria |
| Definitions |
autosomal recessive aminoacidopathy characterized by an excess of methylmalonic acid in the blood and urine, with metabolic ketoacidosis, hyperglycinemia, hyperglycinuria and hyperammonemia; results from defects that cause deficiencies of methylmalonyl-CoA mutase.
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| Synonyms |
methylmalonic acidemia
methylmalonyl coA mutase deficiency
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | autosomal recessive aminoacidopathy characterized by an excess of methylmalonic acid in the blood and urine, with metabolic ketoacidosis, hyperglycinemia, hyperglycinuria and hyperammonemia; results from defects that cause deficiencies of methylmalonyl-CoA mutase. |
|---|---|
| altLabel |
methylmalonic acidemia
methylmalonyl coA mutase deficiency
|
| prefLabel | methylmalonic aciduria
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| Inverse of RO | |
| type | |
| tui | T047
|
| notation | 1849-1120
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| Semantic type UMLS property | |
| DID | 1849-1120
|
| cui |
C2931536
C0268583
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| Inverse of RB | |
| subClassOf |
| Delete | Subject | Author | Type | Created |
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| No notes to display |