Search Ontology:
Human Disease

primary ciliary dyskinesia 41

Term ID
DOID:0111858
Synonyms
  • 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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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