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 30 ID (Ontology) DOID:0110624 (Human Disease)
Definition A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, nasal blockages, polyps, otitis media, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC151 gene on chromosome 19p13.
Also Known As "CILD30" ; "primary ciliary dyskinesia 30 without situs inversus"
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 primary ciliary dyskinesia 30       1
 for disease ribbon | primary ciliary dyskinesia 30       1
 model of | primary ciliary dyskinesia 30       1
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  ciliopathy
   |__primary ciliary dyskinesia
       |__primary ciliary dyskinesia 30  1 rec.
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Synonyms
  • "CILD30" EXACT OMO:0003012
    "primary ciliary dyskinesia 30 without situs inversus" EXACT
Secondary IDs
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ICD10CM:Q34.8
MIM:616037