| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes |
|---|---|---|---|---|---|---|---|
| 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 |
| C3489532 | Cone-Rod Dystrophy 2 | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | Disease or Syndrome | genetic disease; disease of anatomical entity | 29 |