Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1
0.010 GeneticVariation disease BEFREE The classical phenotypes include the spondyloepiphyseal dysplasia (SED) spectrum with variable severity, Stickler dysplasia type I (STD-I), and Kniest dysplasia (KND). 15895462 2005