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DO Term : primary ciliary dyskinesia 29 [DOID:0110600] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with oligocilia and early childhood onset of recurrent respiratory infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCNO gene on chromosome 5p15.
  • synonyms:
  • CILD29,
  • primary ciliary dyskinesia 29 without situs inversus,
  • ICD10CM:Q34.8,
  • 615872,
  • OMIM:615872
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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents