Search Ontology:
Human Disease
primary ciliary dyskinesia 41
- Term ID
- DOID:0111858
- Synonyms
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- CILD41
- Definition
- A primary ciliary dyskinesia characterized by hyperkinetic ciliary beat patterns, defects in ciliary orientation, chronic sinusitis, otitis media, and bronchiectasis that has_material_basis_in homozygous or compound heterozygous mutation in the GAS2L2 gene on chromosome 17q12. https://www.ncbi.nlm.nih.gov/pubmed/30665704
- References
- Ontology
- Human Disease ( DOID:0111858 )
- is a type of
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Genes Involved
Zebrafish Models