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Human Disease

primary ciliary dyskinesia 30

Term ID
DOID:0110624
Synonyms
  • CILD30
  • primary ciliary dyskinesia 30 without situs inversus
Definition
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, nasal blockages, polyps, otitis media, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC151 gene on chromosome 19p13. (2)
References
Ontology
Human Disease   ( DOID:0110624 )
Relationships
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Genes Involved
Zebrafish Models