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 44 ID (Ontology) DOID:0111851 (Human Disease)
Definition A primary ciliary dyskinesia characterized by recurrent sinopulmonary infections, defective mucociliary clearance, short respiratory epithelial cell motile cilia with decreased motility, and absence of situs inversus that has_material_basis_in homozygous or compound heterozygous mutation in the NEK10 gene on chromosome 3p24.1.
Also Known As "CILD44" ; "primary ciliary dyskinesia 44 without situs inversus"
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autosomal genetic disease
 |__autosomal recessive disease__
ciliopathy                       |
 |__primary ciliary dyskinesia___|
                                 primary ciliary dyskinesia 44
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Is a autosomal recessive disease
primary ciliary dyskinesia
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Synonyms
  • "CILD44" EXACT OMO:0003012
    "primary ciliary dyskinesia 44 without situs inversus" EXACT
Secondary IDs
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MIM:618781