Neuronal Ceroid Lipofuscinosis 6B
Disease ID: disease_node_15955
Connections displayed (default: 10).
Loading graph...
| Dbxref | ICD10CM:E75.4, MIM:204300, ORDO:228340 |
|---|---|
| Subclassof | DOID_0050737, DOID_14503 |
| Data Source | DOID |
| Synonyms | CLN4A, autosomal recessive neuronal ceroid lipofuscinosis 4A, neuronal ceroid lipofuscinosis 4A |
| Doid Label | neuronal ceroid lipofuscinosis 6B |
| Doid Description | A neuronal ceroid lipofuscinosis that is characterized by adult-onset of progressive myoclonus epilepsy, ataxia, loss of motor function, dysarthria, progressive dementia, and progressive cerebral and cerebellar atrophy on brain imaging and has_material_basis_in homozygous or compound heterozygous mutation in the CLN6 gene on chromosome 15q23. |
| Existence Starts During | HP_0003581 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15955 |
| Doid Id | DOID_0110730 |
| Label | Neuronal Ceroid Lipofuscinosis 6B |
- Outgoing r'ship
SUBCLASS_OFto/from Neuronal Ceroid-Lipofuscinoses(ID:disease_node_5584) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)