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 16 ID (Ontology) DOID:0110613 (Human Disease)
Definition A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absence of ciliary outer dynein arms, early infantile onset of respiratory distress, and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the DNAL1 gene on chromosome 14q24.3.
Also Known As "CILD16" ; "primary ciliary dyskinesia 16 with or without situs inversus"
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 primary ciliary dyskinesia 16       2
 for disease ribbon | primary ciliary dyskinesia 16       2
 model of | primary ciliary dyskinesia 16       2
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  ciliopathy
   |__primary ciliary dyskinesia
       |__primary ciliary dyskinesia 16  2 rec.
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Synonyms
  • "CILD16" EXACT OMO:0003012
    "primary ciliary dyskinesia 16 with or without situs inversus" EXACT
Secondary IDs
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ICD10CM:Q34.8
MIM:614017