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primary ciliary dyskinesia 28
Summary
- Synonym
-
- CILD28
- primary ciliary dyskinesia 28 with or without situs inversus
- Definition
- A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, and decreased fertility and has_material_basis_in homozygous or compound heterozygous mutation in the SPAG1 gene on chromosome 8q22.
- Super Class
- primary ciliary dyskinesia
External Links
- Disease Ontology
- DOID:0110607
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0011108 | Recurrent sinusitis |
| HP:0200073 | Respiratory insufficiency due to defective ciliary clearance |
| HP:0012265 | Ciliary dyskinesia |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0012255 | Dynein arm defect of respiratory motile cilia |
| HP:0002205 | Recurrent respiratory infections |
| HP:0012384 | Rhinitis |
| HP:0004469 | Chronic bronchitis |
