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ZIRC
OBO ID: DOID:0090048
Term Name: dystonia 16 Search Ontology:
Synonyms:
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)
References:
Ontology: Human Disease   (DOID:0090048)
OTHER dystonia 16 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PRKRA Dystonia 16 612067
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None