FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term primary ciliary dyskinesia 20 ID (Ontology) DOID:0110625 (Human Disease)
Definition 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.
Also Known As "CILD20" ; "primary ciliary dyskinesia 20 with or without situs inversus"
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 primary ciliary dyskinesia 20       1
 for disease ribbon | primary ciliary dyskinesia 20       1
 model of | primary ciliary dyskinesia 20       1
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  ciliopathy
   |__primary ciliary dyskinesia
       |__primary ciliary dyskinesia 20  1 rec.
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Synonyms
  • "CILD20" EXACT OMO:0003012
    "primary ciliary dyskinesia 20 with or without situs inversus" EXACT
Secondary IDs
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ICD10CM:Q34.8
MIM:615067