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Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/1849-5536
http://purl.bioontology.org/ontology/CSP/1849-5536
|
|---|---|
| Preferred Name | Krabbe's disease |
| Definitions |
inherited, demyelinating, human lipid storage disease caused by a deficiency of galactosylceramidase; manifestations include convulsions, quadriplegia, blindness, deafness, and mental retardation.
|
| Synonyms |
Krabbe's leukodystrophy
globoid cell leukodystrophy
galactosylceramide lipidosis
beta galactocerebrosidase deficiency
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | inherited, demyelinating, human lipid storage disease caused by a deficiency of galactosylceramidase; manifestations include convulsions, quadriplegia, blindness, deafness, and mental retardation. |
|---|---|
| altLabel |
Krabbe's leukodystrophy
globoid cell leukodystrophy
galactosylceramide lipidosis
beta galactocerebrosidase deficiency
|
| prefLabel | Krabbe's disease
|
| type | |
| tui | T047
|
| notation | 1849-5536
|
| Semantic type UMLS property | |
| DID | 1849-5536
|
| cui | C0023521
|
| Inverse of RB | |
| subClassOf |
| Delete | Subject | Author | Type | Created |
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| No notes to display |