| 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 | |
| Parent Relationships |
is_a autosomal dominant disease is_a essential tremor |
| Subclass Logical Relationships |
has material basis in some trinucleotide_repeat_expansion has material basis in some autosomal dominant inheritance |