| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0023264 | Leigh Disease | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | Disease or Syndrome | genetic disease; disease of metabolism | 9 | 21 | |
| C1837148 | MYOPIA 6 (disorder) | disease | Eye Diseases | Disease or Syndrome | disease of anatomical entity | 1 | 5 | |
| C1858424 | Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases | Disease or Syndrome | genetic disease; disease of metabolism | 1 | 5 |