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primary ciliary dyskinesia 39
Summary
- Synonym
-
- CILD39
- primary ciliary dyskinesia 39 with or without situs inversus
- Definition
- A primary ciliary dyskinesia characterized by ciliary kinetic defects in some patients, chronic sinopulmonary infections beginning soon after birth and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the LRRC56 gene on chromosome 11p15.5.
- Super Class
- autosomal recessive disease primary ciliary dyskinesia
External Links
- Disease Ontology
- DOID:0111854
- Mondo Disease Ontology
- OMIM
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 |
