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Human Disease

primary ciliary dyskinesia 32

Term ID
DOID:0110603
Synonyms
  • CILD32
  • primary ciliary dyskinesia 32 without situs inversus
Definition
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with near absence of radial spokes, respiratory distress in term neonates, impaired mucociliary clearance, chronic respiratory infections, bronchiectasis, and infertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH3 gene on chromosome 6q25. https://www.ncbi.nlm.nih.gov/pubmed/26073779
References
Ontology
Human Disease   ( DOID:0110603 )
Relationships
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Genes Involved
Zebrafish Models