| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes |
|---|---|---|---|---|---|---|---|
| C3714756 | Intellectual Disability | group | Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | Mental or Behavioral Dysfunction | disease of mental health | Abnormality of the nervous system | 323 |
| C0543888 | Epileptic encephalopathy | disease | Nervous System Diseases | Disease or Syndrome | Abnormality of the nervous system | 30 | |
| C4310717 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41 | disease | Disease or Syndrome | disease of anatomical entity | 1 |