| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C3698541 | Ohdo syndrome, Maat-Kievit-Brunner type | disease | Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases | Disease or Syndrome | syndrome | 1 | 5 |