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
-
- MIM:620642
- UMLS_CUI:C5882728
- Ontology
- Human Disease ( DOID:0070766 )
Other Pages
Genes Involved
Zebrafish Models