Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis
0.110 Biomarker disease BEFREE To date only 7 patients with β4GALT7-deficiency (spEDS-B4GALT7) have been described and their clinical data suggested that, in addition to short stature and muscle hypotonia, radioulnar synostosis, hypermetropia, and delayed cognitive development might be a hallmark of this specific type of spEDS. 28882145 2017
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis
0.110 Biomarker disease HPO