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Orphanet Rare Disease Ontology
Last uploaded:
December 4, 2024
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| Id | http://www.orpha.net/ORDO/Orphanet_614
http://www.orpha.net/ORDO/Orphanet_614
|
|---|---|
| Preferred Name | Thomsen and Becker disease |
| Definitions |
A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).
|
| Synonyms |
Myotonia congenita
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition_citation | Orphanet |
|---|---|
| definition | A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia). |
| label |
Thomsen and Becker disease
|
| prefLabel |
Thomsen and Becker disease
|
| hasDbXref |
OMIM:160800
ICD-10:G71.1
ICD-11:8C71.2
MedDRA:10028655
UMLS:C0027127
OMIM:255700
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|
| notation |
ORPHA:614
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| alternative_term |
Myotonia congenita
|
| present_in |
Italy AND has_point_prevalence_average_value : 0.9 AND has_point_prevalence_range : 1-9 / 1 000 000
Europe AND has_point_prevalence_range : 1-9 / 100 000
United Kingdom AND has_point_prevalence_average_value : 0.52 AND has_point_prevalence_range : 1-9 / 1 000 000
Worldwide AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000
Netherlands AND has_point_prevalence_average_value : 0.75 AND has_point_prevalence_range : 1-9 / 1 000 000
Finland AND has_point_prevalence_average_value : 7.3 AND has_point_prevalence_range : 1-9 / 100 000
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|
| part_of | |
| prefixIRI |
ORDO:Orphanet_614
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| expertlink | |
| subClassOf | |
| type | |
| has_inheritance |
Autosomal recessive
Autosomal dominant
|
| has_age_of_onset |
Adolescent
Adult
Childhood
Infancy
|
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