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DO Term : primary ciliary dyskinesia 14 [DOID:0110598] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect and axonemal disorganization, chronic upper and lower airway infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC39 gene on chromosome 3q26.
  • synonyms:
  • CILD14,
  • ICD10CM:Q34.8,
  • 613807,
  • primary ciliary dyskinesia 14 with or without situs inversus,
  • OMIM:613807
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