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DO Term : primary ciliary dyskinesia 27 [DOID:0110611] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis and has_material_basis_in homozygous mutation in the CCDC65 gene on chromosome 12q13.
  • synonyms:
  • 615504,
  • primary ciliary dyskinesia 27 without situs inversus,
  • OMIM:615504,
  • ICD10CM:Q34.8,
  • CILD27
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