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DO Term : primary ciliary dyskinesia 41 [DOID:0111858] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A primary ciliary dyskinesia characterized by hyperkinetic ciliary beat patterns, defects in ciliary orientation, chronic sinusitis, otitis media, and bronchiectasis that has_material_basis_in homozygous or compound heterozygous mutation in the GAS2L2 gene on chromosome 17q12.
  • synonyms:
  • OMIM:618449,
  • CILD41,
  • 618449
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Disease

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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents