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DO Term : primary ciliary dyskinesia 19 [DOID:0110608] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, chronic sinopulmonary infections, asthenospermia, and immotile cilia and has_material_basis_in homozygous mutation in the LRRC6 gene on chromosome 8q24.
  • synonyms:
  • ICD10CM:Q34.8,
  • 614935,
  • OMIM:614935,
  • primary ciliary dyskinesia 19 with or without situs inversus,
  • CILD19
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