1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0110598 | primary ciliary dyskinesia 14 | A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect and axonemal disorganization, chronic upper and lower airway infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC39 gene on chromosome 3q26. |
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. |