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primary ciliary dyskinesia 25
Summary
- Synonym
-
- CILD25
- primary ciliary dyskinesia 25 with or without situs inversus
- Definition
- A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, decreased fertility and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the DYX1C1 gene on chromosome 15q21.
- Super Class
- primary ciliary dyskinesia
External Links
- Disease Ontology
- DOID:0110615
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8WXU2 | Dynein axonemal assembly factor 4 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000750 | Delayed speech and language development |
| HP:0001746 | Asplenia |
| HP:0000389 | Chronic otitis media |
| HP:0002119 | Ventriculomegaly |
| HP:0001669 | Transposition of the great arteries |
| HP:0000238 | Hydrocephalus |
| HP:0002011 | Morphological central nervous system abnormality |
| HP:0001217 | Clubbing |
| HP:0002566 | Intestinal malrotation |
| HP:0000405 | Conductive hearing impairment |
