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primary ciliary dyskinesia 25
Summary
- Synonym
-
- CILD25
- primary ciliary dyskinesia 25 with or without situs inversus
- Definition
- A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, decreased fertility and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the DYX1C1 gene on chromosome 15q21.
- Super Class
- primary ciliary dyskinesia
External Links
- Disease Ontology
- DOID:0110615
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002643 | Neonatal respiratory distress |
| 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 |
| HP:0011274 | Recurrent mycobacterial infections |
| HP:0001746 | Asplenia |
| HP:0002878 | Respiratory failure |
