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primary ciliary dyskinesia 7
Summary
- Synonym
-
- CILD7
- primary ciliary dyskinesia 7 with or without situs inversus
- Definition
- A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with chronic respiratory infections, chronic sinusitis, recurrent bronchitis, and pneumonia beginning in infancy or early childhood and has_material_basis_in mutation in the DNAH11 gene on chromosome 7p21.
- Super Class
- primary ciliary dyskinesia
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002643 | Neonatal respiratory distress |
| HP:0001217 | Clubbing |
| HP:0005301 | Persistent left superior vena cava |
| HP:0002011 | Morphological central nervous system abnormality |
| HP:0010772 | Anomalous pulmonary venous return |
| HP:0001719 | Double outlet right ventricle |
| HP:0002566 | Intestinal malrotation |
| HP:0011274 | Recurrent mycobacterial infections |
| HP:0001746 | Asplenia |
| HP:0002878 | Respiratory failure |
