loading...| Preferred Name | familial periodic paralysis | |
| Synonyms |
normokalemic periodic paralyses normokalemic periodic paralyzes paralysis, normokalemic periodic periodic paralysis, normokalemic periodic paralysis, familial familial periodic paralyzes periodic paralyzes, normokalemic genetic periodic paralysis paralysis, familial periodic familial periodic paralyses paralyzes, normokalemic periodic periodic paralyzes, familial normokalemic periodic paralysis hereditary periodic paralysis (disease) familial periodic paralysis |
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| Definitions |
A group of genetic neurological disorders caused by mutations in genes involved in the sodium and calcium channels in nerve cells. It is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0000995 |
|
| database_cross_reference |
MEDGEN:18291 DOID:1029 NANDO:1200502 MESH:D010245 NCIT:C84709 SCTID:267607008 Orphanet:371433 UMLS:C0030443 GARD:21613 |
|
| definition |
A group of genetic neurological disorders caused by mutations in genes involved in the sodium and calcium channels in nerve cells. It is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally. |
|
| has_exact_synonym |
hereditary periodic paralysis (disease) familial periodic paralysis |
|
| has_related_synonym |
normokalemic periodic paralyses normokalemic periodic paralyzes paralysis, normokalemic periodic periodic paralysis, normokalemic periodic paralysis, familial familial periodic paralyzes periodic paralyzes, normokalemic genetic periodic paralysis paralysis, familial periodic familial periodic paralyses paralyzes, normokalemic periodic periodic paralyzes, familial normokalemic periodic paralysis |
|
| id |
MONDO:0000995 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#disease_grouping |
|
| label |
familial periodic paralysis |
|
| notation |
MONDO:0000995 |
|
| prefLabel |
familial periodic paralysis |
|
| seeAlso |
https://rarediseases.info.nih.gov/diseases/6422/familial-periodic-paralysis |
|
| skos_exactMatch |
http://purl.obolibrary.org/obo/Orphanet_371433 http://identifiers.org/mesh/D010245 http://identifiers.org/medgen/18291 http://purl.obolibrary.org/obo/NCIT_C84709 http://linkedlifedata.com/resource/umls/id/C0030443 |
|
| treeView |
http://purl.obolibrary.org/obo/MONDO_0004689 |
|
| excluded subClassOf | ||
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0004689 |