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DO Term : primary ciliary dyskinesia 12 [DOID:0110601] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, and nasal symptoms, and has_material_basis_in homozygous mutation in the RSPH9 gene on chromosome 6p21.
  • synonyms:
  • primary ciliary dyskinesia 12 without situs inversus,
  • CILD12,
  • OMIM:612650,
  • 612650,
  • ICD10CM:Q34.8
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