Progressive Myoclonus Epilepsy 1A
Disease ID: disease_node_16293
Connections displayed (default: 10).
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| Dbxref | MIM:254800 |
|---|---|
| Subclassof | DOID_3535, DOID_0050737 |
| Data Source | DOID |
| Synonyms | EPM1A |
| Doid Label | progressive myoclonus epilepsy 1A |
| Doid Description | An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous in the CSTB gene on chromosome 21q22.3. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16293 |
| Doid Id | DOID_0111452 |
| Label | Progressive Myoclonus Epilepsy 1A |
- Outgoing r'ship
SUBCLASS_OFto/from Unverricht-Lundborg Syndrome(ID:disease_node_10197) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)