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Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/1849-8576
http://purl.bioontology.org/ontology/CSP/1849-8576
|
|---|---|
| Preferred Name | gangliosidosis |
| Definitions |
group of often fatal inherited diseases marked by the accumulation of gangliosides in lysosomes secondary to enzymatic deficiency states; gangliosidoses include Tay-Sachs disease, gangliosidosis GM1, gangliosidoses GM2, and Sandhoff disease; which share the infantile or childhood onset of central nervous system deterioration.
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| Synonyms |
amaurotic familial idiocy
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | group of often fatal inherited diseases marked by the accumulation of gangliosides in lysosomes secondary to enzymatic deficiency states; gangliosidoses include Tay-Sachs disease, gangliosidosis GM1, gangliosidoses GM2, and Sandhoff disease; which share the infantile or childhood onset of central nervous system deterioration. |
|---|---|
| altLabel | amaurotic familial idiocy
|
| prefLabel | gangliosidosis
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| Inverse of RO | |
| type | |
| tui | T047
|
| Inverse of RN | |
| notation | 1849-8576
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| Semantic type UMLS property | |
| DID | 1849-8576
|
| cui |
C0017083
C0282220
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| Inverse of RB | |
| subClassOf |
| Delete | Subject | Author | Type | Created |
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| No notes to display |