loading...| Preferred Name | myotonia congenita | |
| Synonyms |
Congenital myotonia, autosomal dominant form Thomsen disease Thomsen's disease |
|
| Definitions |
A muscle tissue disease that is characterised by slow muscle relaxation associated with hyperexcitation of the muscle fibres. OMIM mapping confirmed by DO. [SN]. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_2106 |
|
| comment |
OMIM mapping confirmed by DO. [SN]. |
|
| database_cross_reference |
NCI:C84912 ICD9CM:359.22 GARD:12301 MESH:D009224 OMIM:255700 UMLS_CUI:C0027127 ORDO:614 OMIM:160800 |
|
| definition |
A muscle tissue disease that is characterised by slow muscle relaxation associated with hyperexcitation of the muscle fibres. OMIM mapping confirmed by DO. [SN]. |
|
| has_exact_synonym |
Congenital myotonia, autosomal dominant form Thomsen disease Thomsen's disease |
|
| has_obo_namespace |
disease_ontology |
|
| IAO_0000115 |
A muscle tissue disease that is characterised by slow muscle relaxation associated with hyperexcitation of the muscle fibres. |
|
| id |
DOID:2106 |
|
| in_subset | ||
| label |
myotonia congenita |
|
| notation |
DOID:2106 |
|
| note |
A muscle tissue disease that is characterised by slow muscle relaxation associated with hyperexcitation of the muscle fibres. OMIM mapping confirmed by DO. [SN]. |
|
| prefLabel |
myotonia congenita |
|
| subClassOf |