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DO Term : primary ciliary dyskinesia 25 [DOID:0110615] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, decreased fertility and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the DYX1C1 gene on chromosome 15q21.
  • synonyms:
  • CILD25,
  • primary ciliary dyskinesia 25 with or without situs inversus,
  • ICD10CM:Q34.8,
  • 615482,
  • OMIM:615482
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Ontology

Ontology Term --> All ancestors

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Ontology Term --> Direct parents