Neuronal Ceroid Lipofuscinosis 3
Disease ID: disease_node_15954
Connections displayed (default: 10).
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| Dbxref | GARD:5897, ICD10CM:E75.4, MIM:204200, ORDO:228346 |
|---|---|
| Subclassof | DOID_0050737, DOID_14503 |
| Data Source | DOID |
| Synonyms | Batten disease, CLN3, juvenile neuronal ceroid lipofuscinosis |
| Doid Label | neuronal ceroid lipofuscinosis 3 |
| Doid Description | A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive dementia, seizures, and progressive visual failure and an ultrastructural pattern of lipopigment with a 'fingerprint' profile and has_material_basis_in homozygous or compound heterozygous mutation in the CLN3 gene on chromosome 16p11. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15954 |
| Doid Id | DOID_0110731 |
| Label | Neuronal Ceroid Lipofuscinosis 3 |
| Doid Alternate Ids | DOID_0050756 |
- 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)