Congenital Myasthenic Syndrome 4A
Disease ID: disease_node_14279
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:605809 |
|---|---|
| Subclassof | DOID_0050736, DOID_0050737, DOID_3635 |
| Data Source | DOID |
| Synonyms | CMS Ia1, CMS1A1, CMS4A, congenital myasthenic syndrome 4A slow-channel, congenital myasthenic syndrometype Ia1 |
| Doid Label | congenital myasthenic syndrome 4A |
| Doid Description | A congenital myasthenic syndrome characterized by 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 or rarely biallelic mutation in the CHRNE gene on chromosome 17p13. |
| Has Symptom | SYMP_0000363, SYMP_0000094 |
| Has Material Basis In | GENO_0000147, GENO_0000148 |
| Disease Node Id | disease_node_14279 |
| Doid Id | DOID_0110678 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Myasthenic Syndrome 4A |
- 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 Recessive Disease(ID:disease_node_13241) (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)