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DO Term : primary ciliary dyskinesia 1 [DOID:0110594] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect and in about half of patients situs inversus and has_material_basis_in compound heterozygous mutation in the DNAI1 gene on chromosome 9p13.
  • synonyms:
  • CILD1,
  • 244400,
  • primary ciliary dyskinesia 1 with or without situs inversus,
  • ICD10CM:Q34.8,
  • OMIM:244400
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Ontology Term --> Direct children

Ontology Term --> Direct parents