Disease #01457 (myotonia congenita, autosomal dominant (Thomsen disease), OMIM:160800)
Official abbreviation |
- |
Name |
myotonia congenita, autosomal dominant (Thomsen disease) |
OMIM ID |
160800 |
Human Phenotype Ontology Project (HPO) |
HPO |
Inheritance |
Autosomal dominant |
Individuals reported having this disease |
37 |
Phenotype entries for this disease |
35 |
Associated with 1 gene |
CLCN1 |
Associated tissues |
- |
Disease features |
- |
Remarks |
- |
Individuals
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