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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
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q07617 | Sperm-associated antigen 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000403 | Recurrent otitis media |
| HP:0001696 | Situs inversus totalis |
| HP:0010772 | Anomalous pulmonary venous return |
| HP:0030680 | Abnormal cardiovascular system morphology |
| HP:0005301 | Persistent left superior vena cava |
| HP:0011539 | Atrial situs ambiguous |
| HP:0002878 | Respiratory failure |
| HP:0011947 | Respiratory tract infection |
| HP:0006536 | Airway obstruction |
| HP:0100750 | Atelectasis |
