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About: primary ciliary dyskinesia 25     Goto   Sponge   NotDistinct   Permalink

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 25
described by
id
  • DOID:0110615
database_cross_reference
  • ICD10CM:Q34.8
  • OMIM:615482
has_exact_synonym
  • CILD25 (en)
  • primary ciliary dyskinesia 25 with or without situs inversus (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 inner and outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, decreased fertility and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the DYX1C1 gene on chromosome 15q21.
is topic of
is annotatedSource of
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