| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes |
|---|---|---|---|---|---|---|---|
| C1838979 | MITOCHONDRIAL COMPLEX I DEFICIENCY | disease | Nutritional and Metabolic Diseases | Disease or Syndrome | genetic disease; disease of metabolism | 28 | |
| C0796070 | MICROPHTHALMIA, SYNDROMIC 7 | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases | Disease or Syndrome; Congenital Abnormality | disease of anatomical entity | 3 |