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About: primary ciliary dyskinesia 22     Goto   Sponge   Distinct   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 22
described by
id
  • DOID:0110597
database_cross_reference
  • ICD10CM:Q34.8
  • OMIM:615444
has_exact_synonym
  • CILD22 (en)
  • primary ciliary dyskinesia 22 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 outer and inner dynein arm defect, recurrent respiratory infections, persistent rhinosinusitis, otitis media, chronic cough, variable presence of situs abnormalities, and has_material_basis_in homozygous or compound heterozygous mutation in the ZMYND10 gene on chromosome 3p21.
is topic of
is annotatedSource of
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