Congenital Myasthenic Syndrome 6
Disease ID: disease_node_14286
Connections displayed (default: 10).
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| Dbxref | MIM:254210 |
|---|---|
| Subclassof | DOID_0050737, DOID_3635 |
| Data Source | DOID |
| Synonyms | CMS Ia2, CMS1A2, CMS6, CMSEA, FIM, FIMG2, congenital myasthenic syndrome 6, presynaptic, congenital myasthenic syndrome type Ia2, congenital presynaptic myasthenic syndrome associated with episodic apnea, familial infantile myasthenia, familial infantile myasthenia gravis 2 |
| Doid Label | congenital myasthenic syndrome 6 |
| Doid Description | A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a presynaptic defect resulting in onset of muscle weakeness in infancy or early childhood and a tendency to have sudden apneic episodes that has_material_basis_in homozygous or compound heterozygous mutation in the CHAT gene on chromosome 10q. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_14286 |
| Doid Id | DOID_0110671 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Myasthenic Syndrome 6 |
- 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)