Neuronal Intranuclear Inclusion Disease
Disease ID: disease_node_16099
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| Dbxref | MIM:603472 |
|---|---|
| Subclassof | DOID_0050736, DOID_1289 |
| Data Source | DOID |
| Doid Label | neuronal intranuclear inclusion disease |
| Doid Description | A neurodegenerative disease that is characterized by a wide range of clinical manifestations, including pyramidal and extrapyramidal symptoms, cerebellar ataxia, cognitive decline and dementia, peripheral neuropathy, and autonomic dysfunction, and that has_material_basis_in heterozygous repeat expansion (CGG) in the 5-prime untranslated region of the NOTCH2NLC gene on chromosome 1q21. |
| Has Material Basis In | GENO_0000147, SO_0002165 |
| Disease Node Id | disease_node_16099 |
| Doid Id | DOID_0081294 |
| Label | Neuronal Intranuclear Inclusion Disease |
- Outgoing r'ship
SUBCLASS_OFto/from Neurodegenerative Diseases(ID:disease_node_9989) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)