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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • dystonia 16
described by
id
  • DOID:0090048
database_cross_reference
  • GARD:10539
  • ICD10CM:G24.1
  • OMIM:612067
  • ORDO:210571
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • 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.
is topic of
is annotatedSource of
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