Congenital Myasthenic Syndrome 22
Disease ID: disease_node_14297
Connections displayed (default: 10).
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| Dbxref | MIM:616224 |
|---|---|
| Subclassof | DOID_0050737, DOID_3635 |
| Data Source | DOID |
| Doid Label | congenital myasthenic syndrome 22 |
| Doid Description | A congenital myasthenic syndrome characterized by neonatal hypotonia, neonatal feeding problems, and nasal dysarthria and that has_material_basis_in homozygous or compound heterozygous mutation in the PREPL gene on chromosome 2p21. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_14297 |
| Doid Id | DOID_0080587 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Myasthenic Syndrome 22 |
- 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)