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Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/1849-9034
http://purl.bioontology.org/ontology/CSP/1849-9034
|
|---|---|
| Preferred Name | Fabry's disease |
| Definitions |
x-linked lysosomal storage disease of glycosphingolipid catabolism, resulting from a deficiency of alpha-galactosidase A and leading to accumulation of ceramide trihexoside in the cardiovascular and renal systems.
|
| Synonyms |
alpha galactosidase deficiency
ceramide trihexosidase deficiency
ceramide trihexosidosis
angiokeratoma corporis diffusum
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | x-linked lysosomal storage disease of glycosphingolipid catabolism, resulting from a deficiency of alpha-galactosidase A and leading to accumulation of ceramide trihexoside in the cardiovascular and renal systems. |
|---|---|
| altLabel |
alpha galactosidase deficiency
ceramide trihexosidase deficiency
ceramide trihexosidosis
angiokeratoma corporis diffusum
|
| prefLabel | Fabry's disease
|
| Inverse of RO | |
| type | |
| tui | T047
|
| notation | 1849-9034
|
| Semantic type UMLS property | |
| DID | 1849-9034
|
| cui | C0002986
|
| Inverse of RB | |
| subClassOf |
| Delete | Subject | Author | Type | Created |
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| No notes to display |