SEMA6A, semaphorin 6A, 57556

N. diseases: 211; N. variants: 4
Disease: Congenital kyphosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265673
Disease: Congenital kyphosis
Congenital kyphosis 		0.010 Biomarker disease BEFREE The kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA) is a rare recessively inherited connective tissue disorder characterized by bruisable, hyperextensible skin, generalized joint laxity, severe muscular hypotonia at birth and progressive congenital scoliosis or kyphosis. 25277362 2015