SHOX-related short stature https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/6751 https://github.com/monarch-initiative/mondo/issues/6877 https://www.malacards.org/card/short_stature_idiopathic_x_linked https://www.malacards.org/card/shox_related_short_stature short stature, idiopathic familial MESH:C564479 OMIM:300582 DOID:0112120 Orphanet:314795 SHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age, but may develop later in life or never. UMLS:C1845118 GARD:0017434 SCTID:763868006 MONDO:0010367 short stature, idiopathic, X-linked MEDGEN:375584 ISS skeletal dysplasia