1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0111853 | primary ciliary dyskinesia 40 | A primary ciliary dyskinesia characterized by a subtle defect in the bend of the distal portion of the cilia, reduced ciliary clearance in-vitro, relatively mild respiratory phenotype and laterality defects in all reported patients that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH9 gene on chromosome 17p12. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:9562 | primary ciliary dyskinesia | A ciliopathy that is characterized by impaired function of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube. |
