Source: UNIPROT
| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0268363 | Osteogenesis imperfecta type IV (disorder) | disease | Disease or Syndrome; Congenital Abnormality | genetic disease; disease of anatomical entity | 2 | 26 |