Search Ontology:
Human Disease
primary ciliary dyskinesia 32
- Term ID
- DOID:0110603
- Synonyms
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- 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
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- ICD10CM:Q34.8
- MIM:616481
- Ontology
- Human Disease ( DOID:0110603 )
- is a type of
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Genes Involved
Zebrafish Models