| CUI | Disease | Vocabulary | Name in Vocabulary | Code |
|---|---|---|---|---|
| C2931246 | Potocki-Lupski syndrome | DO | Potocki-Lupski syndrome | 0060853 |
| C2931246 | Potocki-Lupski syndrome | MONDO | Potocki-Lupski syndrome | 0012574 |
| C2931246 | Potocki-Lupski syndrome | MSH | Potocki-Lupski syndrome | C538355 |
| C2931246 | Potocki-Lupski syndrome | NCI | PTLS | C124846 |
| C2931246 | Potocki-Lupski syndrome | NCI | Potocki-Lupski Syndrome | C124846 |
| C2931246 | Potocki-Lupski syndrome | NCI | 17p11.2 Duplication Syndrome | C124846 |
| C2931246 | Potocki-Lupski syndrome | OMIM | POTOCKI-LUPSKI SYNDROME | 610883 |
| C2931246 | Potocki-Lupski syndrome | ORDO | 17p11.2 microduplication syndrome | 1713 |