| Label | Id | |
|---|---|---|
| chromosome 6, trisomy 6q | C537812 | |
| chromosome 6, trisomy 6q2 | C537810 | |
| chromosome 7, trisomy 7p | C537819 | |
| chromosome 7, trisomy 7p13 p12 2 | C537820 | |
| chromosome 7, trisomy 7q | C537821 | |
| chromosome 7, trisomy mosaic | C537822 | |
| Sertoli cell tumor, malignant | 378 | |
| Non-seminomatous germ-cell tumors | C537844 | |
| occipital horn type (formerly) ehlers-danlos syndrome | C537860 | |
| distal arthrogryposis, type 1 | C535378 | |
| orofacial cleft type 10 | 13378 | |
| cone-rod dystrophy type 16 | 13786 | |
| cone-Rod dystrophy type 16 | http://purl.obolibrary.org/obo/MONDO_0013786 | |
| KLHL3 pseudohypoaldosteronism type 2 | 13781 | |
| CUL3 pseudohypoaldosteronism type 2 | 13782 |
