| Label | Id | |
|---|---|---|
| sex reversal, xy, cbx2-related | C567766 | |
| central areolar, with or without drusen choroidal dystrophy | C567729 | |
| primary, 13, with or without situs inversus ciliary dyskinesia | C567713 | |
| cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities | C567716 |