Myotonia Congenita
Disease ID: disease_node_5387
Connections displayed (default: 10).
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| Dbxref | GARD:12301, ICD9CM:359.22, MESH:D009224, NCI:C84912, ORDO:614, UMLS_CUI:C0027127 |
|---|---|
| Subclassof | DOID_66, DOID_0080015 |
| Data Source | DOID, MESH |
| Synonyms | Batten Turner congenital myopathy, Thomsen and Becker disease |
| Mesh Id | D009224 |
| Mesh Label | Myotonia Congenita |
| Mesh Subclassof | D020271, D020967 |
| Doid Label | myotonia congenita |
| Doid Description | A muscle tissue disease that is characterized by slow muscle relaxation associated with hyperexcitation of the muscle fibres. OMIM mapping confirmed by DO. [SN]. |
| Has Symptom | SYMP_0000094 |
| Disease Node Id | disease_node_5387 |
| Doid Id | DOID_2106 |
| Disease Has Basis In | HP_0001197 |
| Label | Myotonia Congenita |
| Doid Alternate Ids | DOID_0080100 |
- Outgoing r'ship
HAS_SYMPTOMto/from Muscle Weakness(ID:disease_node_9835;disease_node_21022) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Thomsen Disease(ID:disease_node_15791) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Physical Disorder(ID:disease_node_13159) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Muscle Tissue Disease(ID:disease_node_15790) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Becker Disease(ID:disease_node_15792) (Disease)