EBP, EBP cholestenol delta-isomerase, 10682

N. diseases: 243; N. variants: 42
Disease: Calcinosis universalis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0263627
Disease: Calcinosis universalis
Calcinosis universalis 		0.210 Biomarker disease BEFREE Prior to the recent characterization of the enzymatic defect and identification of the involved gene, the histopathology of X-linked dominant chondrodysplasia punctata (Conradi-Hünermann-Happle syndrome or CDPX2) has been described under various names including calcinosis universalis, chondrodystrophia calcificans congenita, Conradi disease, and Conradi-Hünermann syndrome. 14726822 2004
CUI: C0263627
Disease: Calcinosis universalis
Calcinosis universalis 		0.210 Biomarker disease MGD