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 41 ID (Ontology) DOID:0111858 (Human Disease)
Definition A primary ciliary dyskinesia characterized by hyperkinetic ciliary beat patterns, defects in ciliary orientation, chronic sinusitis, otitis media, and bronchiectasis that has_material_basis_in homozygous or compound heterozygous mutation in the GAS2L2 gene on chromosome 17q12.
Also Known As "CILD41"
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 Genes
 primary ciliary dyskinesia 41       1
 for disease ribbon | primary ciliary dyskinesia 41       1
 model of | primary ciliary dyskinesia 41       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
ciliopathy                       |
 |__primary ciliary dyskinesia___|
                                 primary ciliary dyskinesia 41  1 rec.
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Is a autosomal recessive disease
primary ciliary dyskinesia
Part of
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Synonyms
  • "CILD41" EXACT OMO:0003012
Secondary IDs
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MIM:618449