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Metadata
ID	DOID:0081294
Name	neuronal intranuclear inclusion disease
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/
Xrefs	MIM:603472
Parent Relationships	is_a autosomal dominant disease is_a neurodegenerative disease
Subclass Logical Relationships	has material basis in some trinucleotide_repeat_expansion has material basis in some autosomal dominant inheritance