Congenital Myasthenic Syndrome 11
Disease ID: disease_node_14282
Connections displayed (default: 10).
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| Dbxref | MIM:616326 |
|---|---|
| Subclassof | DOID_0050737, DOID_3635 |
| Data Source | DOID |
| Synonyms | CMS Ie, CMS11, CMS1E, congenital myasthenic syndrome 11 associated with acetylcholine receptor deficiency, congenital myasthenic syndrome 1e |
| Doid Label | congenital myasthenic syndrome 11 |
| Doid Description | A congenital myasthenic syndrome characterized by autosomal recessive inheritance of low amplitude of the miniature endplate potential and current resulting from deficiency of Acetylcholine Receptor (AChR) at the endplate that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_14282 |
| Doid Id | DOID_0110675 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Myasthenic Syndrome 11 |
- 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)