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 42 ID (Ontology) DOID:0111855 (Human Disease)
Definition A primary ciliary dyskinesia characterized by severe reduction or absence of multiple motile cilia in respiratory epithelia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in the MCIDAS gene on chromosome 5q11.2.
Also Known As "CILD42" ; "primary ciliary dyskinesia 42 without situs inversus"
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 Genes
 primary ciliary dyskinesia 42       1
 for disease ribbon | primary ciliary dyskinesia 42       1
 model of | primary ciliary dyskinesia 42       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
ciliopathy                       |
 |__primary ciliary dyskinesia___|
                                 primary ciliary dyskinesia 42  1 rec.
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Is a autosomal recessive disease
primary ciliary dyskinesia
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Synonyms
  • "CILD42" EXACT OMO:0003012
    "primary ciliary dyskinesia 42 without situs inversus" EXACT
Secondary IDs
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MIM:618695