CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes |
---|---|---|---|---|---|---|---|
C1859499 | 3-methylcrotonyl CoA carboxylase 2 deficiency | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | Disease or Syndrome | genetic disease; disease of metabolism; disease of anatomical entity | 1 |