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primary ciliary dyskinesia 21
Summary
- Synonym
-
- CILD21
- primary ciliary dyskinesia 21 without situs inversus
- Definition
- A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with a missing Nexin link, infantile onset of chronic sinopulmonary infections, and has_material_basis_in homozygous mutation in the DRC1 gene on chromosome 2p23.
- Super Class
- primary ciliary dyskinesia
External Links
- Disease Ontology
- DOID:0110596
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q96MC2 | Dynein regulatory complex protein 1 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q3USS3 | Dynein regulatory complex protein 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0008222 | Female infertility |
| HP:0002878 | Respiratory failure |
| HP:0011539 | Atrial situs ambiguous |
| HP:0005301 | Persistent left superior vena cava |
| HP:0030680 | Abnormal cardiovascular system morphology |
| HP:0010772 | Anomalous pulmonary venous return |
| HP:0100750 | Atelectasis |
| HP:0011274 | Recurrent mycobacterial infections |
| HP:0006536 | Airway obstruction |
| HP:0011947 | Respiratory tract infection |
