1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0110594 | primary ciliary dyskinesia 1 | 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. |