| Disease ID | Source | Name | Description |
| 615923 | OMIM | Epiphyseal chondrodysplasia, Miura type (ECDM) | An overgrowth syndrome characterized by tall stature, long hands and feet with arachnodactyly, macrodactyly of the great toes, scoliosis, coxa valga and slipped capital femoral epiphysis. The disease is caused by variants affecting the gene represented in this entry. |
| 616255 | OMIM | Short stature with non-specific skeletal abnormalities (SNSK) | A condition characterized by short stature, defined as a height less than 2 SD below normal, and no endocrine abnormalities. The disease is caused by variants affecting the gene represented in this entry. |
| 602875 | OMIM | Acromesomelic dysplasia, Maroteaux type (AMDM) | An autosomal recessive acromesomelic chondrodysplasia. Acromesomelic chondrodysplasias are rare hereditary skeletal disorders characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMDM is characterized by axial skeletal involvement with wedging of vertebral bodies. In AMDM all skeletal elements are present but show abnormal rates of linear growth. The disease is caused by variants affecting the gene represented in this entry. |