Metadata | |
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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 | |
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 |