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 17 ID (Ontology) DOID:0110621 (Human Disease)
Definition A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, early infantile onset of respiratory distress, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC103 gene on chromosome 17q21.
Also Known As "CILD17" ; "primary ciliary dyskinesia 17 with or without situs inversus"
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 primary ciliary dyskinesia 17       1
 for disease ribbon | primary ciliary dyskinesia 17       1
 model of | primary ciliary dyskinesia 17       1
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  ciliopathy
   |__primary ciliary dyskinesia
       |__primary ciliary dyskinesia 17  1 rec.
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Synonyms
  • "CILD17" EXACT OMO:0003012
    "primary ciliary dyskinesia 17 with or without situs inversus" EXACT
Secondary IDs
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ICD10CM:Q34.8
MIM:614679