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DO Term : primary ciliary dyskinesia 15 [DOID:0110623] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect, axonemal disorganization, recurrent respiratory infections and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC40 gene on chromosome 17q25.
  • synonyms:
  • ICD10CM:Q34.8,
  • CILD15,
  • 613808,
  • OMIM:613808,
  • primary ciliary dyskinesia 15 with or without situs inversus
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