Metadata | |
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ID | DOID:0090054 |
Name | episodic kinesigenic dyskinesia 2 |
Definition | A dystonia that is characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 16q13-q22.1. https://ghr.nlm.nih.gov/condition/familial-paroxysmal-kinesigenic-dyskinesia |
Xrefs | |
Subsets |
DO_rare_slim |
Parent Relationships |
is_a autosomal dominant disease is_a dystonia |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |