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Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/1849-0664
http://purl.bioontology.org/ontology/CSP/1849-0664
|
|---|---|
| Preferred Name | hyperglycinemia |
| Definitions |
autosomal recessive metabolic disorder caused by deficiencies in the mitochondrial glycine cleavage system; an enzyme system with four components: p-, t-, h-, and l-proteins; deficiency of the p-protein is the most prevalent form; clinical features include seizures, hypotonia, apnea, and coma; when the illness presents in childhood there tends to be an associated progressive dementia accompanied by extrapyramidal signs.
|
| Synonyms |
nonketotic hyperglycinemia
glycinemia
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | autosomal recessive metabolic disorder caused by deficiencies in the mitochondrial glycine cleavage system; an enzyme system with four components: p-, t-, h-, and l-proteins; deficiency of the p-protein is the most prevalent form; clinical features include seizures, hypotonia, apnea, and coma; when the illness presents in childhood there tends to be an associated progressive dementia accompanied by extrapyramidal signs. |
|---|---|
| altLabel |
nonketotic hyperglycinemia
glycinemia
|
| prefLabel | hyperglycinemia
|
| Inverse of RO | |
| type | |
| tui | T047
|
| Inverse of RN | |
| notation | 1849-0664
|
| Semantic type UMLS property | |
| DID | 1849-0664
|
| cui |
C0751748
C0268559
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| Inverse of RB | |
| subClassOf |
| Delete | Subject | Author | Type | Created |
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| No notes to display |