Neuronal Ceroid Lipofuscinosis 8 Northern Epilepsy Variant
Disease ID: disease_node_15961
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| Dbxref | GARD:2163, GARD:4010, ICD10CM:E75.4, MIM:610003, ORDO:1947 |
|---|---|
| Subclassof | DOID_0050737, DOID_14503 |
| Data Source | DOID |
| Synonyms | EPMR, northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant, progressive epilepsy with mental retardation, northern epilepsy, progressive epilepsy-intellectual disability syndrome, Finnish type |
| Doid Label | neuronal ceroid lipofuscinosis 8 northern epilepsy variant |
| Doid Description | A neuronal ceroid lipofuscinosis that is characterized by onset at 5 to 10 years of age of epilepsy followed by progressive mental retardation and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in a Finnish founder mutation in the CLN8 gene on chromosome 8p23. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15961 |
| Doid Id | DOID_0110724 |
| Label | Neuronal Ceroid Lipofuscinosis 8 Northern Epilepsy Variant |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Neuronal Ceroid-Lipofuscinoses(ID:disease_node_5584) (Disease)