Source: GENOMICS_ENGLAND
CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes |
---|---|---|---|---|---|---|---|
C0282577 | Congenital Disorders of Glycosylation | group | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | Disease or Syndrome | genetic disease; disease of metabolism | 10 |