Progressive Myoclonus Epilepsy 7
Disease ID: disease_node_16298
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| Dbxref | MIM:616187, NCI:C142804, ORDO:435438, SNOMEDCT_US_2023_03_01:1208939001, UMLS_CUI:C4015420 |
|---|---|
| Subclassof | DOID_0050736, DOID_891 |
| Data Source | DOID |
| Synonyms | EPM7, MEAK, Myoclonus epilepsy and ataxia due to potassium channel mutation, PME type 7, Progressive myoclonic epilepsy due to KV3.1 deficiency, Progressive myoclonus epilepsy type 7 |
| Doid Label | progressive myoclonus epilepsy 7 |
| Doid Description | A progressive myoclonus epilepsy characterized by onset of severe progressive myoclonus and infrequent tonic-clonic seizures in the first or second decades of life that has_material_basis_in heterozygous mutation in the KCNC1 gene on chromosome 11p15.1. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_16298 |
| Doid Id | DOID_0111447 |
| Label | Progressive Myoclonus Epilepsy 7 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)