SHOX, short stature homeobox, 6473

N. diseases: 138; N. variants: 16
Disease: Byzanthine arch palate ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.110 GeneticVariation disease BEFREE Family studies of the children with SHOX mutations often reveal older family members with same mutation who exhibit mild skeletal features reminiscent of the Turner syndrome, such as high-arched palate, short neck, abnormal auricular development, cubitus valgus, genu valgum, short fourth metacarpals, and Madelung deformity. 11889216 2002
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.110 Biomarker disease HPO