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primary ciliary dyskinesia 1

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The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

Disease Overview

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI1 gene.

Synonyms

  • CILD1
  • DNAI1 primary ciliary dyskinesia
  • Kartagener syndrome
  • PCD
  • Polynesian bronchiectasis
  • Siewert syndrome
  • ciliary dyskinesia, primary, 1
  • ciliary dyskinesia, primary, 1, with or without situs inversus
  • ciliary dyskinesia, primary, type 1
  • dextrocardia, bronchiectasis, and sinusitis
  • immotile cilia syndrome
  • primary ciliary dyskinesia 1
  • primary ciliary dyskinesia 1 with or without situs inversus
  • primary ciliary dyskinesia caused by mutation in DNAI1
  • primary ciliary dyskinesia type 1
Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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GeneReviews

GeneReviews has an article on this condition covering diagnosis, management, and inheritance. Each article is written by one or more experts on the specific disease and is reviewed by other specialists. The article contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. The GeneReviews database is managed by the University of Washington.

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