loading...| Preferred Name | potassium-aggravated myotonia | |
| Synonyms |
Myotonia Permanens Sodium Channel Muscle Disease MYOTONIA, POTASSIUM-AGGRAVATED Laryngospasm, Severe Neonatal Episodic Myotonia Congenita, Acetazolamide-Responsive Myotonia Fluctuans Myotonia Congenita, Atypical K-aggravated myotonia myotonia congenita, atypical, acetazolamide-responsive K+-aggravated myotonia Potassium aggravated myotonia PAM |
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| Definitions |
Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0018959 |
|
| database_cross_reference |
MESH:C538353 MEDGEN:444151 NANDO:1200500 NCIT:C122788 icd11.foundation:1707250468 Orphanet:612 UMLS:C2931826 GARD:4459 OMIM:608390 SCTID:702355008 |
|
| definition |
Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia. |
|
| has_exact_synonym |
K-aggravated myotonia myotonia congenita, atypical, acetazolamide-responsive K+-aggravated myotonia Potassium aggravated myotonia PAM |
|
| has_related_synonym |
Myotonia Permanens Sodium Channel Muscle Disease MYOTONIA, POTASSIUM-AGGRAVATED Laryngospasm, Severe Neonatal Episodic Myotonia Congenita, Acetazolamide-Responsive Myotonia Fluctuans Myotonia Congenita, Atypical |
|
| IAO_0000233 | ||
| id |
MONDO:0018959 |
|
| 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 |
potassium-aggravated myotonia |
|
| notation |
MONDO:0018959 |
|
| prefLabel |
potassium-aggravated myotonia |
|
| skos_exactMatch |
http://identifiers.org/mesh/C538353 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1707250468 http://purl.obolibrary.org/obo/NCIT_C122788 http://linkedlifedata.com/resource/umls/id/C2931826 http://identifiers.org/snomedct/702355008 |
|
| treeView |
http://purl.obolibrary.org/obo/MONDO_0800468 |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0800468 |