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Metadata
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

ICD10CM:G24.1

OMIM:615073

ORDO:329466

Subsets

DO_rare_slim

Parent Relationships

is_a multifocal dystonia

is_a autosomal dominant disease

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