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 43 ID (Ontology) DOID:0111856 (Human Disease)
Definition A primary ciliary dyskinesia characterized by reduced generation of multiple motile cilia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections,variable infertility, and laterality defects in about half of patients that has_material_basis_in heterozygous mutation in FOXJ1 on chromosome 17q25.1.
Also Known As "CILD43" ; "primary ciliary dyskinesia 43 with or without situs inversus"
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 Genes
 primary ciliary dyskinesia 43       9
 for disease ribbon | primary ciliary dyskinesia 43       9
 model of | primary ciliary dyskinesia 43       9
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
ciliopathy                      |
 |__primary ciliary dyskinesia__|
                                primary ciliary dyskinesia 43  9 rec.
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Is a autosomal dominant disease
primary ciliary dyskinesia
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Synonyms
  • "CILD43" EXACT OMO:0003012
    "primary ciliary dyskinesia 43 with or without situs inversus" EXACT
Secondary IDs
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MIM:618699