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primary ciliary dyskinesia 25
Summary
- Synonym
-
- CILD25
- primary ciliary dyskinesia 25 with or without situs inversus
- Definition
- A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, decreased fertility and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the DYX1C1 gene on chromosome 15q21.
- Super Class
- primary ciliary dyskinesia
External Links
- Disease Ontology
- DOID:0110615
- 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:0000510 | Rod-cone dystrophy |
| HP:0000365 | Hearing impairment |
| HP:0000924 | Abnormality of the skeletal system |
| HP:0000403 | Recurrent otitis media |
| HP:0003251 | Male infertility |
