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 45 ID (Ontology) DOID:0111857 (Human Disease)
Definition A primary ciliary dyskinesia characterized by absence of inner dynein arms with some axonemal disorganization in airway epithelial cells, absence of both inner and outer dynein arms in sperm from infertile male patients, recurrent sinopulmonary infections, defective mucociliary clearance, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in the TTC12 gene on chromosome 11q23.2.
Also Known As "CILD45" ; "primary ciliary dyskinesia 45 without situs inversus"
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 Genes
 primary ciliary dyskinesia 45       4
 for disease ribbon | primary ciliary dyskinesia 45       4
 model of | primary ciliary dyskinesia 45       4
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
ciliopathy                       |
 |__primary ciliary dyskinesia___|
                                 primary ciliary dyskinesia 45  4 rec.
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Is a autosomal recessive disease
primary ciliary dyskinesia
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Synonyms
  • "CILD45" EXACT OMO:0003012
    "primary ciliary dyskinesia 45 without situs inversus" EXACT
Secondary IDs
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MIM:618801