| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes |
|---|---|---|---|---|---|---|---|
| C4013648 | POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL | disease | Disease or Syndrome | 1 | |||
| C0002736 | Amyotrophic Lateral Sclerosis | disease | Nutritional and Metabolic Diseases; Nervous System Diseases | Disease or Syndrome | genetic disease; disease of anatomical entity | Abnormality of the nervous system | 37 |
| C1857663 | Yunis Varon syndrome | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases | Disease or Syndrome | genetic disease; syndrome | 2 |