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DO Term : primary ciliary dyskinesia 10 [DOID:0110612] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A primary ciliary dyskinesia that is characterized by outer and inner dynein arm absence, chronic otitis media, sinusitis, recurrent pneumonia and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the KTU gene on chromosome 14q21.
  • synonyms:
  • CILD10,
  • 612518,
  • ICD10CM:Q34.8,
  • primary ciliary dyskinesia 10 with or without situs inversus,
  • OMIM:612518
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