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primary ciliary dyskinesia 3
Summary
- Synonym
-
- CILD3
- primary ciliary dyskinesia 3 with or without situs inversus
- Definition
- A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, ciliary akinesia and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the DNAH5 gene on chromosome 5p15.
- Super Class
- primary ciliary dyskinesia
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001669 | Transposition of the great arteries |
| HP:0006536 | Airway obstruction |
| HP:0002119 | Ventriculomegaly |
| HP:0012206 | Abnormal sperm motility |
| HP:0011617 | Pulmonary situs ambiguus |
| HP:0100582 | Nasal polyposis |
| HP:0011539 | Atrial situs ambiguous |
| HP:0030680 | Abnormal cardiovascular system morphology |
| HP:0100750 | Atelectasis |
| HP:0011947 | Respiratory tract infection |
