Congenital Myasthenic Syndrome 7
Disease ID: disease_node_14299
Connections displayed (default: 10).
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| Dbxref | MIM:616040 |
|---|---|
| Subclassof | DOID_0050736, DOID_3635 |
| Data Source | DOID |
| Synonyms | CMS7, congenital myasthenic syndrome 7 presynaptic |
| Doid Label | congenital myasthenic syndrome 7 |
| Doid Description | A congenital myasthenic syndrome characterized by autosomal domit inheritance of presynaptic defects with onset of symptoms in early childhood that has_material_basis_in heterozygous mutation in the SYT2 gene on chromosome 1q32. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_14299 |
| Doid Id | DOID_0110659 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Myasthenic Syndrome 7 |
- 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)