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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
External Links
- Disease Ontology
- DOID:0110605
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q96DT5 | Dynein axonemal heavy chain 11 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| E9Q7N9 | Dynein, axonemal, heavy chain 11 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0008222 | Female infertility |
| HP:0011274 | Recurrent mycobacterial infections |
| HP:0003251 | Male infertility |
| HP:0030680 | Abnormal cardiovascular system morphology |
| HP:0005425 | Recurrent sinopulmonary infections |
| HP:0005301 | Persistent left superior vena cava |
| HP:0011109 | Chronic sinusitis |
| HP:0002643 | Neonatal respiratory distress |
| HP:0011947 | Respiratory tract infection |
| HP:0100750 | Atelectasis |
