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About: primary ciliary dyskinesia 18     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 18
described by
id
  • DOID:0110604
database_cross_reference
  • ICD10CM:Q34.8
  • OMIM:614874
has_exact_synonym
  • primary ciliary dyskinesia 18 with or without situs inversus (en)
  • CILD18 (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, early infantile onset of recurrent sinopulmonary infections, male infertility, and variable occurence of situs inversus and has_material_basis_in homozygous mutation in the HEATR2 gene on chromosome 7p22.
is topic of
is annotatedSource of
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