OBO ID: DOID:0081294 |
Term Name: | neuronal intranuclear inclusion disease | Search Ontology: | |
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Synonyms: |
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Definition: | 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. https://pubmed.ncbi.nlm.nih.gov/27797808/ | ||
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Ontology: | Human Disease ( DOID:0081294 ) |
OTHER neuronal intranuclear inclusion disease PAGES
GENES INVOLVED
Human Gene | Zebrafish Ortholog | OMIM Term | OMIM Phenotype ID |
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NOTCH2NLC | Neuronal intranuclear inclusion disease |
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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