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DO Term : primary ciliary dyskinesia 44 [DOID:0111851] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A primary ciliary dyskinesia characterized by recurrent sinopulmonary infections, defective mucociliary clearance, short respiratory epithelial cell motile cilia with decreased motility, and absence of situs inversus that has_material_basis_in homozygous or compound heterozygous mutation in the NEK10 gene on chromosome 3p24.1.
  • synonyms:
  • OMIM:618781,
  • 618781,
  • primary ciliary dyskinesia 44 without situs inversus,
  • CILD44
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