| Disease ID | Source | Name | Description |
| 133701 | OMIM | Hereditary multiple exostoses 2 (EXT2) | EXT is a genetically heterogeneous bone disorder caused by genes segregating on human chromosomes 8, 11, and 19 and designated EXT1, EXT2 and EXT3 respectively. EXT is a dominantly inherited skeletal disorder primarily affecting endochondral bone during growth. The disease is characterized by formation of numerous cartilage-capped, benign bone tumors (osteocartilaginous exostoses or osteochondromas) that are often accompanied by skeletal deformities and short stature. In a small percentage of cases exostoses have exhibited malignant transformation resulting in an osteosarcoma or chondrosarcoma. Osteochondromas development can also occur as a sporadic event. The disease is caused by variants affecting the gene represented in this entry. |
| 616682 | OMIM | Seizures, scoliosis, and macrocephaly/microcephaly syndrome (SSMS) | An autosomal recessive syndrome characterized by seizures, intellectual disability, hypotonia, scoliosis, macrocephaly, hypertelorism and renal dysfunction. The disease is caused by variants affecting the gene represented in this entry. |
| 601224 | OMIM | Potocki-Shaffer syndrome (POSHS) | A syndrome characterized by foramina parietalia permagna, multiple exostoses, and craniofacial dysostosis and mental retardation in some cases. The gene represented in this entry is involved in disease pathogenesis. |