Metadata | |
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ID | DOID:0090055 |
Name | dystonia 25 |
Definition | A multifocal dystonia that is characterized by cervical, laryngeal and hand-forearm dystonia, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the GNAL gene on chromosome 18p11. https://www.ncbi.nlm.nih.gov/pubmed/28283962, https://www.ncbi.nlm.nih.gov/pubmed/30660597, https://www.omim.org/entry/615073 |
Xrefs | |
Subsets |
DO_rare_slim |
Parent Relationships |
is_a multifocal dystonia |