Source: GENOMICS_ENGLAND
CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes |
---|---|---|---|---|---|---|---|
C1845292 | FANCONI ANEMIA, COMPLEMENTATION GROUP B | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases | Disease or Syndrome | genetic disease; disease of anatomical entity | 1 |