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 2 ID (Ontology) DOID:0110626 (Human Disease)
Definition A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, otitis media, sinusitis, chronic cough, recurrent respiratory infections, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAAF3 gene on chromosome 19q13.
Also Known As "CILD2" ; "primary ciliary dyskinesia 2 with or without situs inversus"
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 primary ciliary dyskinesia 2       1
 for disease ribbon | primary ciliary dyskinesia 2       1
 model of | primary ciliary dyskinesia 2       1
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  ciliopathy
   |__primary ciliary dyskinesia
       |__primary ciliary dyskinesia 2  1 rec.
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Synonyms
  • "CILD2" EXACT OMO:0003012
    "primary ciliary dyskinesia 2 with or without situs inversus" EXACT
Secondary IDs
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ICD10CM:Q34.8
MIM:606763