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primary ciliary dyskinesia 3
Summary
- Synonym
-
- CILD3
- primary ciliary dyskinesia 3 with or without situs inversus
- Definition
- A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, ciliary akinesia and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the DNAH5 gene on chromosome 5p15.
- Super Class
- primary ciliary dyskinesia
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8TE73 | Dynein axonemal heavy chain 5 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8VHE6 | Dynein axonemal heavy chain 5 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000405 | Conductive hearing impairment |
| HP:0001627 | Abnormal heart morphology |
| HP:0002119 | Ventriculomegaly |
| HP:0000403 | Recurrent otitis media |
| HP:0001742 | Nasal congestion |
| HP:0001746 | Asplenia |
| HP:0002110 | Bronchiectasis |
| HP:0000238 | Hydrocephalus |
| HP:0000924 | Abnormality of the skeletal system |
| HP:0001217 | Clubbing |
