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:630 | genetic disease | A disease that has_material_basis_in genetic variations in the human genome. |