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DO Term : primary ciliary dyskinesia 20 [DOID:0110625] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, infantile onset of chronic sinopulmonary infections, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC114 gene on chromosome 19q13.
  • synonyms:
  • CILD20,
  • 615067,
  • primary ciliary dyskinesia 20 with or without situs inversus,
  • ICD10CM:Q34.8,
  • OMIM:615067
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