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 39 ID (Ontology) DOID:0111854 (Human Disease)
Definition A primary ciliary dyskinesia characterized by ciliary kinetic defects in some patients, chronic sinopulmonary infections beginning soon after birth and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the LRRC56 gene on chromosome 11p15.5.
Also Known As "CILD39" ; "primary ciliary dyskinesia 39 with or without situs inversus"
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 Genes
 primary ciliary dyskinesia 39       1
 for disease ribbon | primary ciliary dyskinesia 39       1
 model of | primary ciliary dyskinesia 39       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
ciliopathy                       |
 |__primary ciliary dyskinesia___|
                                 primary ciliary dyskinesia 39  1 rec.
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Is a autosomal recessive disease
primary ciliary dyskinesia
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Synonyms
  • "CILD39" EXACT OMO:0003012
    "primary ciliary dyskinesia 39 with or without situs inversus" EXACT
Secondary IDs
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MIM:618254