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Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/1849-8747
http://purl.bioontology.org/ontology/CSP/1849-8747
|
|---|---|
| Preferred Name | Sandhoff disease |
| Definitions |
autosomal inherited disease caused by deficiency of the enzymes hexosaminidase A and B which leads to an accumulation of GM2 ganglioside and the sphingolipid globoside in neurons and other organs; clinical manifestations resemble Tay-Sachs disease.
|
| Synonyms |
gangliosidosis GM2 type II
Sandhoff Jatzkewitz disease
hexosaminidase a and b deficiency
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | autosomal inherited disease caused by deficiency of the enzymes hexosaminidase A and B which leads to an accumulation of GM2 ganglioside and the sphingolipid globoside in neurons and other organs; clinical manifestations resemble Tay-Sachs disease. |
|---|---|
| altLabel |
gangliosidosis GM2 type II
Sandhoff Jatzkewitz disease
hexosaminidase a and b deficiency
|
| prefLabel | Sandhoff disease
|
| type | |
| tui | T047
|
| notation | 1849-8747
|
| Semantic type UMLS property | |
| DID | 1849-8747
|
| cui | C0036161
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| Inverse of RB | |
| subClassOf |
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| No notes to display |