OBO ID: DOID:0081294
Term Name: neuronal intranuclear inclusion disease Search Ontology:
Synonyms:
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/
References:
Ontology: Human Disease   ( DOID:0081294 )
OTHER neuronal intranuclear inclusion disease PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NOTCH2NLC Neuronal intranuclear inclusion disease
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None