Congenital Myasthenic Syndrome 12
Disease ID: disease_node_14298
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:610542 |
|---|---|
| Subclassof | DOID_0050737, DOID_3635 |
| Data Source | DOID |
| Synonyms | CMS12, congenital myasthenia 12 with tubular aggregates |
| Doid Label | congenital myasthenic syndrome 12 |
| Doid Description | A congenital myasthenic syndrome characterized by autosomal recessive inheritance of onset of proximal muscle weakness in the first decade that generally responds well to acetylcholinesterase inhibitor treatment that has_material_basis_in homozygous or compound heterozygous mutation in the GFPT1 gene on chromosome 2p13. |
| Has Symptom | SYMP_0000094 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_14298 |
| Doid Id | DOID_0110660 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Myasthenic Syndrome 12 |
- 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)