| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0917796 | Optic Atrophy, Hereditary, Leber | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases | Disease or Syndrome | disease of anatomical entity | Abnormality of the eye | 9 | 21 |
| C0162671 | MELAS Syndrome | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases | Disease or Syndrome | disease of anatomical entity | 4 | 7 | |
| C1838990 | ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL | disease | Finding | 2 | 1 |