CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
---|---|---|---|---|---|---|---|---|
C0024796 | Marfan Syndrome | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | Disease or Syndrome | disease of anatomical entity | 130 | 1012 | |
C4016052 | MARFAN SYNDROME, SEVERE CLASSIC | disease | Finding | 1 | 1 |