Progressive Myoclonus Epilepsy 1B
Disease ID: disease_node_16294
Connections displayed (default: 10).
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| Dbxref | MIM:612437 |
|---|---|
| Subclassof | DOID_3535, DOID_0050737 |
| Data Source | DOID |
| Synonyms | EPM1B |
| Doid Label | progressive myoclonus epilepsy 1B |
| Doid Description | An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PRICKLE1 gene on chromosome 12q12. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16294 |
| Doid Id | DOID_0111448 |
| Label | Progressive Myoclonus Epilepsy 1B |
- 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)