Congenital Myasthenic Syndrome 21
Disease ID: disease_node_14285
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| Dbxref | MIM:617239 |
|---|---|
| Subclassof | DOID_0050737, DOID_3635 |
| Data Source | DOID |
| Synonyms | CMS21, congenital myasthenic syndrome 21, presynaptic |
| Doid Label | congenital myasthenic syndrome 21 |
| Doid Description | A congenital myasthenic syndrome characterized by autosomal recessive inheritance of hypotonia, apneas, and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the SLC18A3 gene on chromosome 10q11. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_14285 |
| Doid Id | DOID_0110672 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Myasthenic Syndrome 21 |
- 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)