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primary ciliary dyskinesia 14
Summary
- Synonym
-
- CILD14
- primary ciliary dyskinesia 14 with or without situs inversus
- Definition
- A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect and axonemal disorganization, chronic upper and lower airway infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC39 gene on chromosome 3q26.
- Super Class
- primary ciliary dyskinesia
External Links
- Disease Ontology
- DOID:0110598
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9UFE4 | Coiled-coil domain-containing protein 39 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001719 | Double outlet right ventricle |
| HP:0000119 | Abnormality of the genitourinary system |
| HP:0001748 | Polysplenia |
| HP:0000924 | Abnormality of the skeletal system |
| HP:0002257 | Chronic rhinitis |
| HP:0000403 | Recurrent otitis media |
| HP:0001696 | Situs inversus totalis |
| HP:0002643 | Neonatal respiratory distress |
| HP:0000510 | Rod-cone dystrophy |
| HP:0001742 | Nasal congestion |
