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Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/1849-8105
http://purl.bioontology.org/ontology/CSP/1849-8105
|
|---|---|
| Preferred Name | Lesch Nyhan syndrome |
| Definitions |
rare x-linked disorder of purine metabolism, due to deficiency of hypoxanthine phosphoribosyltransferase; affected individuals are normal in the first year of life and then develop psychomotor retardation, extrapyramidal movement disorders, progressive spasticity, and seizures; self-destructive behaviors such as biting of fingers and lips are seen frequently; intellectual impairment may also occur but is typically not severe; elevation of uric acid in the serum leads to the development of renal calculi and gouty arthritis.
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| Synonyms |
hypoxanthine guanine phosphoribosyltransferase deficiency
IMP:pyrophosphate phosphoribosyltransferase deficiency
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | rare x-linked disorder of purine metabolism, due to deficiency of hypoxanthine phosphoribosyltransferase; affected individuals are normal in the first year of life and then develop psychomotor retardation, extrapyramidal movement disorders, progressive spasticity, and seizures; self-destructive behaviors such as biting of fingers and lips are seen frequently; intellectual impairment may also occur but is typically not severe; elevation of uric acid in the serum leads to the development of renal calculi and gouty arthritis. |
|---|---|
| altLabel |
hypoxanthine guanine phosphoribosyltransferase deficiency
IMP:pyrophosphate phosphoribosyltransferase deficiency
|
| prefLabel | Lesch Nyhan syndrome
|
| Inverse of RO | |
| type | |
| tui |
T046
T047
|
| notation | 1849-8105
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| Semantic type UMLS property | |
| DID | 1849-8105
|
| cui |
C5848153
C0023374
C0677627
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| Inverse of RB | |
| subClassOf |
| Delete | Subject | Author | Type | Created |
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| No notes to display |