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Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/1849-3266
http://purl.bioontology.org/ontology/CSP/1849-3266
|
|---|---|
| Preferred Name | familial periodic paralysis |
| Definitions |
heterogenous group of inherited disorders characterized by recurring attacks of rapidly progressive flaccid paralysis or myotonia; these conditions have in common a mutation of the gene encoding the alpha subunit of the sodium channel in skeletal muscle; frequently associated with fluctuations in serum potassium levels; periodic paralysis may also occur as a non-familial process secondary to thyrotoxicosis and other conditions.
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| Synonyms |
normokalemic periodic paralysis
periodic hypokalemic paralysis
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | heterogenous group of inherited disorders characterized by recurring attacks of rapidly progressive flaccid paralysis or myotonia; these conditions have in common a mutation of the gene encoding the alpha subunit of the sodium channel in skeletal muscle; frequently associated with fluctuations in serum potassium levels; periodic paralysis may also occur as a non-familial process secondary to thyrotoxicosis and other conditions. |
|---|---|
| altLabel |
normokalemic periodic paralysis
periodic hypokalemic paralysis
|
| prefLabel | familial periodic paralysis
|
| Inverse of RO | |
| type | |
| tui | T047
|
| notation | 1849-3266
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| Semantic type UMLS property | |
| DID | 1849-3266
|
| cui |
C0238358
C0268445
C0030443
|
| Inverse of RB | |
| subClassOf |
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| No notes to display |