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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
  • torsion dystonia 2
described by
id
  • DOID:0090038
database_cross_reference
  • ICD10CM:G24.1
  • OMIM:224500
  • ORDO:99657
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A dystonia that initially involves the distal limbs and later involves the neck, orofacial, and craniocervical regions, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hippocalcin (HPCA) gene on chromosome 1p35.
is topic of
is annotatedSource of
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