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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
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001669 | Transposition of the great arteries |
| HP:0006536 | Airway obstruction |
| HP:0002119 | Ventriculomegaly |
| HP:0012206 | Abnormal sperm motility |
| HP:0011617 | Pulmonary situs ambiguus |
| HP:0100582 | Nasal polyposis |
| HP:0011539 | Atrial situs ambiguous |
| HP:0030680 | Abnormal cardiovascular system morphology |
| HP:0100750 | Atelectasis |
| HP:0011947 | Respiratory tract infection |
