Congenital Myasthenic Syndrome 9
Disease ID: disease_node_14287
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:616325 |
|---|---|
| Subclassof | DOID_0050737, DOID_3635 |
| Data Source | DOID |
| Synonyms | CMS9, congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency |
| Doid Label | congenital myasthenic syndrome 9 |
| Doid Description | A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in postsynaptic neuromuscular junctions, reduced miniature endplate potential amplitude, proximal muscle weakness and episodic respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31. |
| Has Symptom | SYMP_0000094 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_14287 |
| Doid Id | DOID_0110670 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Myasthenic Syndrome 9 |
- 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)