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primary ciliary dyskinesia 23
Summary
- Synonym
-
- CILD23
- primary ciliary dyskinesia 23 with or without situs inversus
- Definition
- A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, respiratory distress and recurrent upper and lower airway infections, and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the ARMC4 gene on chromosome 10p.
- Super Class
- primary ciliary dyskinesia
External Links
- Disease Ontology
- DOID:0110609
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q5T2S8 | Outer dynein arm-docking complex subunit 2 |
- 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 |
