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DO Term : primary ciliary dyskinesia 13 [DOID:0110618] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A primary ciliary dyskinesia that is characterized by inner and outer dynein arm defect, immotile cilia, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the LRRC50 gene on chromosome 16q23-q24.
  • synonyms:
  • ICD10CM:Q34.8,
  • primary ciliary dyskinesia 13 with or without situs inversus,
  • CILD13,
  • 613193,
  • OMIM:613193
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