Metadata | |
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ID | DOID:0090035 |
Name | myoclonic dystonia 15 |
Definition | A myoclonic dystonia that is characterized by jerky movements of the upper limbs, hands, and axial muscles, and has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 18p11. https://www.omim.org/entry/607488, https://ghr.nlm.nih.gov/condition/myoclonus-dystonia |
Xrefs | |
Subsets |
DO_rare_slim |
Parent Relationships |
is_a autosomal dominant disease is_a myoclonic dystonia |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |