Search Ontology:
Human Disease
primary ciliary dyskinesia 55
- Term ID
- DOID:0061226
- Synonyms
-
- Azoospermia-sinopulmonary infections syndrome
- Sinusitis-infertility syndrome
- young syndrome
- Definition
- A primary ciliary dyskinesia characterized by impairment of the function of the motile cilia of the airways, resulting in chronic respiratory tract infections and has_material_basis_in homozygous or compound heterozygous mutation in the CFAP221 gene on chromosome 2q14. (2)
- References
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- GARD:341
- MIM:279000
- ORDO:3471
- Ontology
- Human Disease ( DOID:0061226 )
Other Pages
Genes Involved
Zebrafish Models