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primary ciliary dyskinesia 30
Summary
- Synonym
-
- CILD30
- primary ciliary dyskinesia 30 without situs inversus
- Definition
- A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, nasal blockages, polyps, otitis media, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC151 gene on chromosome 19p13.
- Super Class
- primary ciliary dyskinesia
External Links
- Disease Ontology
- DOID:0110624
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000389 | Chronic otitis media |
| HP:0000750 | Delayed speech and language development |
| HP:0000238 | Hydrocephalus |
| HP:0000405 | Conductive hearing impairment |
| HP:0000119 | Abnormality of the genitourinary system |
| HP:0000403 | Recurrent otitis media |
| HP:0000510 | Rod-cone dystrophy |
| HP:0000365 | Hearing impairment |
| HP:0002878 | Respiratory failure |
| HP:0001746 | Asplenia |
