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 38 ID (Ontology) DOID:0111852 (Human Disease)
Definition A primary ciliary dyskinesia characterized by significant loss of both the inner and outer dynein arms, chronic airway disease, recurrent sinopulmonary infections, and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP300 gene on chromosome 11q22.1.
Also Known As "CILD38" ; "primary ciliary dyskinesia 38 with or without situs inversus"
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autosomal genetic disease
 |__autosomal recessive disease__
ciliopathy                       |
 |__primary ciliary dyskinesia___|
                                 primary ciliary dyskinesia 38
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Is a autosomal recessive disease
primary ciliary dyskinesia
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Synonyms
  • "CILD38" EXACT OMO:0003012
    "primary ciliary dyskinesia 38 with or without situs inversus" EXACT
Secondary IDs
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MIM:618063