| Disease ID | Source | Name | Description |
| 602111 | OMIM | Spondyloepimetaphyseal dysplasia, Missouri type (SEMD-MO) | A bone disease characterized by moderate to severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood. Epimetaphyseal changes improve with age. The disease is caused by variants affecting the gene represented in this entry. |
| 602111 | OMIM | Spondyloepimetaphyseal dysplasia, Missouri type (SEMD-MO) | A bone disease characterized by moderate to severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood. Epimetaphyseal changes improve with age. The disease is caused by variants affecting the gene represented in this entry. |
| 250400 | OMIM | Metaphyseal dysplasia, Spahr type (MDST) | An autosomal recessive, rare disease characterized by moderate short stature, mild genua vara, and radiographic signs of metaphyseal dysplasia, but no biochemical signs of rickets. The disease is caused by variants affecting the gene represented in this entry. |