| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Schilbach-Rott Syndrome Ocular Hypotelorism, Submucosal Cleft Palate, and Hypospadias | PTCH1 | disease | C1834038 | ChromosomalRearrangement | 0.3 | orphanet , disgenet |
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