Congenital Myasthenic Syndrome 2C
Disease ID: disease_node_14277
Connections displayed (default: 10).
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| Dbxref | MIM:616314 |
|---|---|
| Subclassof | DOID_0050737, DOID_3635 |
| Data Source | DOID |
| Synonyms | CMS2C, congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency |
| Doid Label | congenital myasthenic syndrome 2C |
| Doid Description | A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in compound heterozygous mutation in the CHRNB1 gene on chromosome 17p13. |
| Has Symptom | SYMP_0000094 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_14277 |
| Doid Id | DOID_0110680 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Myasthenic Syndrome 2C |
- Outgoing r'ship
HAS_SYMPTOMto/from Muscle Weakness(ID:disease_node_9835;disease_node_21022) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Myasthenic Syndromes, Congenital(ID:disease_node_10478) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)