Neuronal Ceroid Lipofuscinosis 6A
Disease ID: disease_node_15956
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| Dbxref | GARD:1224, ICD10CM:E75.4, MIM:601780, ORDO:228363 |
|---|---|
| Subclassof | DOID_0050737, DOID_14503 |
| Data Source | DOID |
| Synonyms | CLN6, neuronal ceroid lipofuscinosis 6, neuronal ceroid lipofuscinosis 6 variable age of onset |
| Doid Label | neuronal ceroid lipofuscinosis 6A |
| Doid Description | A neuronal ceroid lipofuscinosis that is characterized by progressive decline of neurologic function, including visual deterioration in most, cognitive impairment, loss of motor function, and seizures and has_material_basis_in homozygous mutation in the CLN6 gene on chromosome 15q21-q23. |
| Existence Starts During | HP_0011463 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15956 |
| Doid Id | DOID_0110729 |
| Label | Neuronal Ceroid Lipofuscinosis 6A |
- 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)