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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
  • primary ciliary dyskinesia 35
described by
id
  • DOID:0110620
database_cross_reference
  • OMIM:617092
has_exact_synonym
  • primary ciliary dyskinesia 35 with or without situs inversus (en)
  • CILD35 (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absent outer dynein arms, immotile cilia, variable occurence of laterality defects and recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the TTC25 gene on chromosome 17q21.
is topic of
is annotatedSource of
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