Thomsen Disease
Disease ID: disease_node_15791
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:160800 |
|---|---|
| Subclassof | DOID_0050736, DOID_2106 |
| Data Source | DOID |
| Synonyms | Congenital myotonia, autosomal dominant form, Thomsen's disease |
| Doid Label | Thomsen disease |
| Doid Description | A myotonia congenita that is characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction and that has_material_basis_in heterozygous mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1) on chromosome 7q34. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_15791 |
| Doid Id | DOID_0081336 |
| Label | Thomsen Disease |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Myotonia Congenita(ID:disease_node_5387) (Disease)