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DO Term : primary ciliary dyskinesia 4 [DOID:0110614] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A primary ciliary dyskinesia that is characterized by partial absence of the inner dynein arms with variable occurrence of situs inversus and has_material_basis_in variation in the chromosome region 15q13.1-q15.1.
  • synonyms:
  • OMIM:608646,
  • 608646,
  • primary ciliary dyskinesia 4 with or without situs inversus,
  • CILD4,
  • ICD10CM:Q34.8
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