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MIRAGE
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: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 |
