OBO ID: DOID:0090048 |
Term Name: | dystonia 16 | Search Ontology: | |
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Definition: | A multifocal dystonia that is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism, and that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the protein activator of interferon induced protein kinase EIF2AK2 (PRKRA) gene on chromosome 2q31. (3) | ||
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Ontology: | Human Disease ( DOID:0090048 ) |
OTHER dystonia 16 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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