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Last uploaded:
September 25, 2013
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| Id | http://purl.bioontology.org/ontology/CSP/0485-3493
http://purl.bioontology.org/ontology/CSP/0485-3493
|
|---|---|
| Preferred Name | Friedreich's ataxia |
| Definitions |
inherited disease with degenerative changes in the dorsal half of spinal cord and cerebellum; characterized by ataxia of extremities and trunk, speech impairment, and lateral curvature of the spine.
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| Synonyms |
Friedreich's tabes
family ataxia
hereditary ataxia
spinal sclerosis hereditary
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | inherited disease with degenerative changes in the dorsal half of spinal cord and cerebellum; characterized by ataxia of extremities and trunk, speech impairment, and lateral curvature of the spine. |
|---|---|
| altLabel |
Friedreich's tabes
family ataxia
hereditary ataxia
spinal sclerosis hereditary
|
| prefLabel |
Friedreich's ataxia
|
| DID |
0485-3493
|
| notation |
0485-3493
|
| Inverse of RB | |
| subClassOf | |
| Semantic type UMLS property | |
| type | |
| tui |
T047
|
| cui |
C0004138
C0016719
|
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