Congenital Myasthenic Syndrome 2A
Disease ID: disease_node_14276
Connections displayed (default: 10).
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| Dbxref | MIM:616313 |
|---|---|
| Subclassof | DOID_0050736, DOID_3635 |
| Data Source | DOID |
| Synonyms | CMS2A, congenital myasthenic syndrome 2A slow-channel |
| Doid Label | congenital myasthenic syndrome 2A |
| Doid Description | A congenital myasthenic syndrome characterized by autosomal domit inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous mutation in the CHRNB1 gene on chromosome 17p13. |
| Has Symptom | SYMP_0000363, SYMP_0000094 |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_14276 |
| Doid Id | DOID_0110681 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Myasthenic Syndrome 2A |
- Outgoing r'ship
HAS_SYMPTOMto/from Muscle Weakness(ID:disease_node_9835;disease_node_21022) (Disease) - Outgoing r'ship
HAS_SYMPTOMto/from Progressive Weakness(ID:disease_node_21078) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Myasthenic Syndromes, Congenital(ID:disease_node_10478) (Disease)