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primary ciliary dyskinesia 5
Summary
- Synonym
-
- CILD5
- primary ciliary dyskinesia 5 without situs inversus
- Definition
- A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with early onset of a progressive decline in lung function and has_material_basis_in homozygous mutation in the HYDIN gene on chromosome 16q22.
- Super Class
- primary ciliary dyskinesia
External Links
- Disease Ontology
- DOID:0110617
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0006536 | Airway obstruction |
| HP:0002119 | Ventriculomegaly |
| HP:0011947 | Respiratory tract infection |
| HP:0100750 | Atelectasis |
| HP:0011539 | Atrial situs ambiguous |
| HP:0030680 | Abnormal cardiovascular system morphology |
| HP:0011535 | Abnormal atrial arrangement |
| HP:0012206 | Abnormal sperm motility |
| HP:0100582 | Nasal polyposis |
| HP:0011617 | Pulmonary situs ambiguus |
