| Disease ID | Source | Name | Description |
| 300582 | OMIM | Short stature, idiopathic, X-linked (ISS) | A condition defined by a standing height more than 2 standard deviations below the mean (or below the 2.5 percentile) for sex and chronological age, compared with a well-nourished, genetically relevant population, in the absence of specific causative disorders. The disease is caused by variants affecting the gene represented in this entry. |
| 127300 | OMIM | Leri-Weill dyschondrosteosis (LWD) | Dominantly inherited skeletal dysplasia characterized by moderate short stature predominantly because of short mesomelic limb segments. It is often associated with the Madelung deformity of the wrist, comprising bowing of the radius and dorsal dislocation of the distal ulna. The disease is caused by variants affecting the gene represented in this entry. |
| 249700 | OMIM | Langer mesomelic dysplasia (LMD) | Autosomal recessive rare skeletal dysplasia characterized by severe short stature owing to shortening and maldevelopment of the mesomelic and rhizomelic segments of the limbs. Associated malformations are rarely reported and intellect is normal in all affected subjects reported to date. The disease is caused by variants affecting the gene represented in this entry. |