loading...| Preferred Name |
Paramyotonia congenita of Von Eulenburg |
| ID |
http://www.orpha.net/ORDO/Orphanet_684 |
| alternative_term |
Paramyotonia congenita |
| definition |
Paramyotonia congenita of Von Eulenburg is characterised by exercise- or cold-induced myotonia and muscle weakness. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684 |
| has_age_of_onset |
Adult Adolescent Childhood |
| has_inheritance |
Autosomal dominant |
| hasDbXref |
ICD-11:8C74.0 MeSH:C538616 UMLS:C0221055 ICD-10:G71.1 OMIM:168300 |
| label |
Paramyotonia congenita of Von Eulenburg |
| notation |
ORPHA:684 |
| part_of | |
| prefixIRI |
ORDO:Orphanet_684 |
| prefLabel |
Paramyotonia congenita of Von Eulenburg |
| present_in |
Worldwide AND has_point_prevalence_range : Unknown Netherlands AND has_point_prevalence_average_value : 0.94 AND has_point_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 0.17 AND has_point_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : 1-9 / 1 000 000 |
| treeView | |
| subClassOf |