Congenital Myasthenic Syndrome 5
Disease ID: disease_node_14290
Connections displayed (default: 10).
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| Dbxref | MIM:603034 |
|---|---|
| Subclassof | DOID_0050737, DOID_3635 |
| Data Source | DOID |
| Synonyms | CMS Ic, CMS5, EAD, Engel congenital myasthenic syndrome, congenital myasthenic syndrome Engel type, congenital myasthenic syndrome type Ic, end plate acetylcholinesterase deficiency |
| Doid Label | congenital myasthenic syndrome 5 |
| Doid Description | A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a defect within the synapse at the neuromuscular junction resulting in prolonged synaptic currents and action potentials that has_material_basis_in homozygous or compound heterozygous mutation in the COLQ gene on chromosome 3p25. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_14290 |
| Doid Id | DOID_0110667 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Myasthenic Syndrome 5 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Myasthenic Syndromes, Congenital(ID:disease_node_10478) (Disease)