Search Ontology:
Human Disease

primary ciliary dyskinesia 53

Term ID
DOID:0070766
Synonyms
  • CILD53
Definition
A primary ciliary dyskinesia characterized by randomization of the left-right body asymmetry and respiratory symptoms that has_material_basis_in homozygous mutation in the CLXN gene on chromosome 8q11. https://pubmed.ncbi.nlm.nih.gov/36727596/
References
Ontology
Human Disease   ( DOID:0070766 )
Relationships
Other Pages
Genes Involved
Zebrafish Models