| CUI | Disease | Vocabulary | Name in Vocabulary | Code |
|---|---|---|---|---|
| C0175692 | Johanson-Blizzard syndrome | DO | Johanson-Blizzard syndrome | 14694 |
| C0175692 | Johanson-Blizzard syndrome | MONDO | Johanson-Blizzard syndrome | 0009479 |
| C0175692 | Johanson-Blizzard syndrome | MSH | Johanson Blizzard syndrome | C535880 |
| C0175692 | Johanson-Blizzard syndrome | MSH | Johanson-Blizzard Syndrome | C535880 |
| C0175692 | Johanson-Blizzard syndrome | OMIM | JOHANSON-BLIZZARD SYNDROME | 243800 |
| C0175692 | Johanson-Blizzard syndrome | ORDO | Johanson-Blizzard syndrome | 2315 |