| Disease ID | Source | Name | Description |
| 266280 | OMIM | RAPADILINO syndrome (RAPADILINOS) | Disease characterized by radial and patellar aplasia or hypoplasia. The disease is caused by variants affecting the gene represented in this entry. |
| 268400 | OMIM | Rothmund-Thomson syndrome 2 (RTS2) | An autosomal recessive disorder characterized by dermatological features such as skin atrophy, pigmentation abnormalities, and telangiectasia. It is frequently accompanied by juvenile cataract, saddle nose, congenital bone defects, disturbances of hair growth, hypogonadism, and an increased risk of osteosarcoma in childhood and skin cancer later in life. The disease is caused by variants affecting the gene represented in this entry. |
| 218600 | OMIM | Baller-Gerold syndrome (BGS) | An autosomal recessive syndrome characterized by short stature, craniosynostosis, absent or hypoplastic radii, short and curved ulna, fused carpal bones and absent carpals, metacarpals and phalanges. Some patients manifest poikiloderma. Cases reported as Baller-Gerold syndrome have phenotypic overlap with several other disorders, including Saethre-Chotzen syndrome. The disease is caused by variants affecting the gene represented in this entry. |