1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0110614 | primary ciliary dyskinesia 4 | A primary ciliary dyskinesia that is characterized by partial absence of the inner dynein arms with variable occurrence of situs inversus and has_material_basis_in variation in the chromosome region 15q13.1-q15.1. |
1 Parent Term
Identifier | Name | Description |
---|---|---|
DOID:0050177 | monogenic disease | A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive. |