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 13 ID (Ontology) DOID:0110618 (Human Disease)
Definition A primary ciliary dyskinesia that is characterized by inner and outer dynein arm defect, immotile cilia, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the LRRC50 gene on chromosome 16q23-q24.
Also Known As "CILD13" ; "primary ciliary dyskinesia 13 with or without situs inversus"
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 Genes
 primary ciliary dyskinesia 13       1
 for disease ribbon | primary ciliary dyskinesia 13       1
 model of | primary ciliary dyskinesia 13       1
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  ciliopathy
   |__primary ciliary dyskinesia
       |__primary ciliary dyskinesia 13  1 rec.
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Synonyms
  • "CILD13" EXACT OMO:0003012
    "primary ciliary dyskinesia 13 with or without situs inversus" EXACT
Secondary IDs
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ICD10CM:Q34.8
MIM:613193