CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
---|---|---|---|---|---|---|---|---|
C0410530 | Metachondromatosis | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases | Disease or Syndrome | genetic disease; disease of anatomical entity | 1 | 29 |