Myoclonic Epilepsies, Progressive
Disease ID: disease_node_10191
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| Dbxref | MESH:D020191, MIM:254900, ORDO:163696, SNOMEDCT_US_2023_03_01:764453009, UMLS_CUI:C0751779 |
|---|---|
| Subclassof | DOID_891, DOID_0050737 |
| Data Source | DOID, MESH |
| Synonyms | AMRF, EPM4, Myoclonus-nephropathy syndrome, action myoclonus-renal failure syndrome |
| Mesh Id | D020191 |
| Mesh Label | Myoclonic Epilepsies, Progressive |
| Mesh Subclassof | D004831 |
| Doid Label | progressive myoclonus epilepsy 4 |
| Doid Description | A progressive myoclonus epilepsy characterized by progressive myoclonic epilepsy often associated with renal failure that has_material_basis_in homozygous or compound heterozygous of mutation in the SCARB2 gene on chromosome 4q21.1. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_10191 |
| Doid Id | DOID_0111444 |
| Label | Myoclonic Epilepsies, Progressive |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)