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primary ciliary dyskinesia 37
Summary
- Definition
- A primary ciliary dyskinesia that has_material_basis_in homozygous mutation in the DNAH1 gene on chromosome 3p21.
- Super Class
- primary ciliary dyskinesia
External Links
- Disease Ontology
- DOID:0080266
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9P2D7 | Dynein axonemal heavy chain 1 |
- 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 |
