1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0112124 | X-linked retinitis pigmentosa and sinorespiratory infections | A syndrome characterized by retinitis pigmentosa and recurrent respiratory infections with nasal ciliary abnormalities and hearing loss in some patients that has_material_basis_in mutation in the RPGR gene on chromosome Xp11.4. |
1 Parent Term
Identifier | Name | Description |
---|---|---|
DOID:0050735 | X-linked monogenic disease | A monogenic disease that has_material_basis_in mutations in genes on the X chromosome. |