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DO Term : primary ciliary dyskinesia 32 [DOID:0110603] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with near absence of radial spokes, respiratory distress in term neonates, impaired mucociliary clearance, chronic respiratory infections, bronchiectasis, and infertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH3 gene on chromosome 6q25.
  • synonyms:
  • CILD32,
  • ICD10CM:Q34.8,
  • OMIM:616481,
  • 616481,
  • primary ciliary dyskinesia 32 without situs inversus
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Ontology

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Ontology Term --> Direct children

Ontology Term --> Direct parents