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 11 ID (Ontology) DOID:0110602 (Human Disease)
Definition A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, nasal symptoms, ear obstruction with consequent hearing problems, low weight, and short stature, and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH4A gene on chromosome 6q22.
Also Known As "CILD11" ; "primary ciliary dyskinesia 11 without situs inversus"
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 Genes
 primary ciliary dyskinesia 11       1
 for disease ribbon | primary ciliary dyskinesia 11       1
 model of | primary ciliary dyskinesia 11       1
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  ciliopathy
   |__primary ciliary dyskinesia
       |__primary ciliary dyskinesia 11  1 rec.
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Synonyms
  • "CILD11" EXACT OMO:0003012
    "primary ciliary dyskinesia 11 without situs inversus" EXACT
Secondary IDs
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ICD10CM:Q34.8
MIM:612649