| CUI | Disease | Vocabulary | Name in Vocabulary | Code |
|---|---|---|---|---|
| C1853490 | 22q13.3 Deletion Syndrome | DO | Phelan-McDermid syndrome | 0080354 |
| C1853490 | 22q13.3 Deletion Syndrome | MONDO | Phelan McDermid syndrome | 0011652 |
| C1853490 | 22q13.3 Deletion Syndrome | MSH | 22q13.3 Deletion Syndrome | C536801 |
| C1853490 | 22q13.3 Deletion Syndrome | MSH | Telomeric 22q13 Monosomy Syndrome | C536801 |
| C1853490 | 22q13.3 Deletion Syndrome | OMIM | PHELAN-MCDERMID SYNDROME | 606232 |
| C1853490 | 22q13.3 Deletion Syndrome | OMIM | PHMDS | 606232 |
| C1853490 | 22q13.3 Deletion Syndrome | ORDO | Monosomy 22q13.3 | 48652 |