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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:0001748 | Polysplenia |
| HP:0011535 | Abnormal atrial arrangement |
| HP:0001696 | Situs inversus totalis |
| HP:0008222 | Female infertility |
| HP:0002257 | Chronic rhinitis |
| HP:0001627 | Abnormal heart morphology |
| HP:0005425 | Recurrent sinopulmonary infections |
| HP:0002110 | Bronchiectasis |
| HP:0011109 | Chronic sinusitis |
| HP:0001742 | Nasal congestion |
