| Label | Id | |
|---|---|---|
| congenital hypogammaglobulinemia (finding) | 1902 | |
| distal deletion 13q34 | 19902 | |
| monosomy type 13q34 | 19902 | |
| subtelomeric deletion 13q34 | 19902 | |
| JOUBERT SYNDROME 36 | 32902 | |
| mitochondrial complex 1 deficiency, nuclear type 36 | 30902 | |
| Groenouw type 2 corneal dystrophy | 9020 | |
| Joubert syndrome 36 | 32902 | |
| Costello syndrome; CSTLO | http://purl.obolibrary.org/obo/MONDO_0009026 | |
| limb-girdle, type 2e muscular dystrophy | C535902 | |
| biemond syndrome II | C565902 | |
| Groenouw type II corneal dystrophy | 9020 | |
| apparent mineralocorticoid EXCESS | 9025 | |
| apparent mineralocorticoid EXCESS; AME | http://purl.obolibrary.org/obo/MONDO_0009025 | |
| Charcot Marie Tooth disease type 1F | 11902 |