Disease: Conotruncal defect ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect 		0.010 GeneticVariation disease BEFREE DiGeorge syndrome (DGS) is a developmental field defect, characterised by absent/hypoplastic thymus and parathyroid, and conotruncal heart defects, with haploinsufficiency loci at 22q (DGS1) and 10p (DGS2). 9781025 1998