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 23 ID (Ontology) DOID:0110609 (Human Disease)
Definition A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, respiratory distress and recurrent upper and lower airway infections, and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the ARMC4 gene on chromosome 10p.
Also Known As "CILD23" ; "primary ciliary dyskinesia 23 with or without situs inversus"
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 primary ciliary dyskinesia 23       1
 for disease ribbon | primary ciliary dyskinesia 23       1
 model of | primary ciliary dyskinesia 23       1
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  ciliopathy
   |__primary ciliary dyskinesia
       |__primary ciliary dyskinesia 23  1 rec.
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Synonyms
  • "CILD23" EXACT OMO:0003012
    "primary ciliary dyskinesia 23 with or without situs inversus" EXACT
Secondary IDs
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ICD10CM:Q34.8
MIM:615451