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primary ciliary dyskinesia 30
Summary
- Synonym
-
- CILD30
- primary ciliary dyskinesia 30 without situs inversus
- Definition
- A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, nasal blockages, polyps, otitis media, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC151 gene on chromosome 19p13.
- Super Class
- primary ciliary dyskinesia
External Links
- Disease Ontology
- DOID:0110624
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0011274 | Recurrent mycobacterial infections |
| HP:0001669 | Transposition of the great arteries |
| HP:0006536 | Airway obstruction |
| HP:0002119 | Ventriculomegaly |
| HP:0001217 | Clubbing |
| HP:0005301 | Persistent left superior vena cava |
| HP:0002011 | Morphological central nervous system abnormality |
| HP:0010772 | Anomalous pulmonary venous return |
| HP:0001719 | Double outlet right ventricle |
| HP:0002566 | Intestinal malrotation |
