Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.010 GeneticVariation disease BEFREE Congenital disorders of glycosylation, including SLC35A3-CDG, can present as a wide phenotypic spectrum, including skeletal dysplasia. 28777481 2017