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primary ciliary dyskinesia 10
Summary
- Synonym
-
- CILD10
- primary ciliary dyskinesia 10 with or without situs inversus
- Definition
- A primary ciliary dyskinesia that is characterized by outer and inner dynein arm absence, chronic otitis media, sinusitis, recurrent pneumonia and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the KTU gene on chromosome 14q21.
- Super Class
- primary ciliary dyskinesia
External Links
- Disease Ontology
- DOID:0110612
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
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 |
