Congenital Myasthenic Syndrome 20
Disease ID: disease_node_14296
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| Dbxref | MIM:617143 |
|---|---|
| Subclassof | DOID_0050737, DOID_3635 |
| Data Source | DOID |
| Synonyms | CMS20, congenital myasthenic syndrome 20 presynaptic |
| Doid Label | congenital myasthenic syndrome 20 |
| Doid Description | A congenital myasthenic syndrome characterized by autosomal recessive inheritance of severe hypotonia associated with episodic apnea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC5A7 gene on chromosome 2q12. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_14296 |
| Doid Id | DOID_0110661 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Myasthenic Syndrome 20 |
- 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)