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loading...| Preferred Name |
Myotonia Congenita |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84912 |
| code |
C84912 |
| DEFINITION |
A genetic congenital neuromuscular disorder affecting the skeletal muscles. It is caused by mutations in the chloride channel gene (CLCN1 gene). It is characterized by muscle stiffness, hypertrophy, pain, and cramping. |
| FULL_SYN |
Myotonia Congenita |
| label |
Myotonia Congenita |
| Preferred_Name |
Myotonia Congenita |
| prefixIRI |
Thesaurus:C84912 |
| prefLabel |
Myotonia Congenita |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0027127 |
| subClassOf |
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