Source: ALL
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 | 100 | 46 |