Neuronal Ceroid Lipofuscinosis 11
Disease ID: disease_node_15953
Connections displayed (default: 10).
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| Dbxref | ICD10CM:E75.4, MIM:614706, ORDO:314629 |
|---|---|
| Subclassof | DOID_0050737, DOID_14503 |
| Data Source | DOID |
| Synonyms | CLN11 |
| Doid Label | neuronal ceroid lipofuscinosis 11 |
| Doid Description | A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy and has_material_basis_in homozygous mutation in the GRN gene on chromosome 17q. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15953 |
| Doid Id | DOID_0110732 |
| Label | Neuronal Ceroid Lipofuscinosis 11 |
- 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)