| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C3281201 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 | disease | Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms | Disease or Syndrome | genetic disease; syndrome; disease of mental health | 3 | 61 | |
| C0265338 | Coffin-Siris syndrome | disease | Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms | Disease or Syndrome | genetic disease; syndrome; disease of mental health | 1 | 3 |