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primary ciliary dyskinesia 5
Summary
- Synonym
-
- CILD5
- primary ciliary dyskinesia 5 without situs inversus
- Definition
- A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with early onset of a progressive decline in lung function and has_material_basis_in homozygous mutation in the HYDIN gene on chromosome 16q22.
- Super Class
- primary ciliary dyskinesia
External Links
- Disease Ontology
- DOID:0110617
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q4G0P3 | Hydrocephalus-inducing protein homolog |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001719 | Double outlet right ventricle |
| HP:0000119 | Abnormality of the genitourinary system |
| HP:0001742 | Nasal congestion |
| HP:0000510 | Rod-cone dystrophy |
| HP:0002110 | Bronchiectasis |
| HP:0000365 | Hearing impairment |
| HP:0001627 | Abnormal heart morphology |
| HP:0002257 | Chronic rhinitis |
| HP:0000924 | Abnormality of the skeletal system |
| HP:0001748 | Polysplenia |
