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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:0000924 | Abnormality of the skeletal system |
| HP:0003251 | Male infertility |
| HP:0001748 | Polysplenia |
| HP:0008222 | Female infertility |
| HP:0001696 | Situs inversus totalis |
| HP:0002257 | Chronic rhinitis |
| HP:0011109 | Chronic sinusitis |
| HP:0001742 | Nasal congestion |
| HP:0002643 | Neonatal respiratory distress |
| HP:0001627 | Abnormal heart morphology |
