Preferred Name | familial periodic paralysis | |
Synonyms |
normokalemic periodic paralysis periodic hypokalemic 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. |
|
ID |
http://purl.bioontology.org/ontology/CSP/1849-3266 |
|
altLabel |
normokalemic periodic paralysis periodic hypokalemic paralysis |
|
cui |
C0238358 C0268445 C0030443 |
|
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. |
|
DID |
1849-3266 |
|
Inverse of RB | ||
Inverse of RO | ||
notation |
1849-3266 |
|
prefLabel |
familial periodic paralysis |
|
tui |
T047 |
|
subClassOf |