| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes |
|---|---|---|---|---|---|---|---|
| C0002452 | Amelogenesis Imperfecta | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases | Congenital Abnormality | genetic disease; disease of anatomical entity | Abnormality of head or neck; Abnormality of the skeletal system; Abnormality of connective tissue | 10 |
| C4540511 | GELEOPHYSIC DYSPLASIA 3 | disease | Congenital Abnormality | 1 | |||
| C1832594 | Verloes Bourguignon syndrome | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases | Disease or Syndrome | genetic disease | 1 |