loading...| Preferred Name | Paralyses, Familial Periodic | |
| Synonyms |
Normokalemic Periodic Paralysis Paralysis, Familial Periodic Familial Periodic Paralyses Normokalemic Periodic Paralyses Familial Periodic Paralysis Periodic Paralyses, Normokalemic Paralysis, Normokalemic Periodic Periodic Paralyses, Familial Periodic Paralysis, Familial Periodic Paralysis, Normokalemic Paralyses, Normokalemic Periodic |
|
| Definitions |
A 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. They are frequently associated with fluctuations in serum potassium levels. Periodic paralysis may also occur as a non-familial process secondary to THYROTOXICOSIS and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1481) |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D010245 |
|
| altLabel |
Normokalemic Periodic Paralysis Paralysis, Familial Periodic Familial Periodic Paralyses Normokalemic Periodic Paralyses Familial Periodic Paralysis Periodic Paralyses, Normokalemic Paralysis, Normokalemic Periodic Periodic Paralyses, Familial Periodic Paralysis, Familial Periodic Paralysis, Normokalemic Paralyses, Normokalemic Periodic |
|
| AN |
a specific disease entity: see MeSH definition |
|
| AQL |
BL CF CI CL CN CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C0268445 C0030443 |
|
| DC |
1 |
|
| definition |
A 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. They are frequently associated with fluctuations in serum potassium levels. Periodic paralysis may also occur as a non-familial process secondary to THYROTOXICOSIS and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1481) |
|
| DX |
20000101 |
|
| HN |
2000(1966) |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000151 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Machine permutation |
2000; see PARALYSIS, FAMILIAL PERIODIC 1966-1999 |
|
| Mapped from | ||
| MDA |
19990101 |
|
| MMR |
20120703 |
|
| MN |
C10.668.491.650 C16.320.565.618.711 C18.452.648.618.711 C05.651.701 |
|
| notation |
D010245 |
|
| prefLabel |
Paralyses, Familial Periodic |
|
| TERMUI |
T372340 T372339 T372338 T365795 |
|
| TH |
OMIM (2013) NLM (2000) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |