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Metadata
ID DOID:0081295
Name essential tremor 6
Definition An essential tremor that is characterized by adult-onset kinetic and/or postural tremor usually affecting the upper limbs and that has_material_basis_in heterozygous trinucleotide GGC repeat expansion in the 5-prime untranslated region of the NOTCH2NLC gene on chromosome 1q21.
https://pubmed.ncbi.nlm.nih.gov/31819945/
Xrefs

MIM:618866

Parent Relationships

is_a autosomal dominant disease

is_a essential tremor

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

has material basis in some trinucleotide_repeat_expansion

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