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primary ciliary dyskinesia 2
Summary
- Synonym
-
- CILD2
- primary ciliary dyskinesia 2 with or without situs inversus
- Definition
- A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, otitis media, sinusitis, chronic cough, recurrent respiratory infections, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAAF3 gene on chromosome 19q13.
- Super Class
- primary ciliary dyskinesia
External Links
- Disease Ontology
- DOID:0110626
- 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 |
