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primary ciliary dyskinesia 1
Summary
- Synonym
-
- CILD1
- primary ciliary dyskinesia 1 with or without situs inversus
- Definition
- A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect and in about half of patients situs inversus and has_material_basis_in compound heterozygous mutation in the DNAI1 gene on chromosome 9p13.
- Super Class
- primary ciliary dyskinesia
External Links
- Disease Ontology
- DOID:0110594
- 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 |
