Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome
0.310 GeneticVariation disease BEFREE We describe four patients with mutations in CHD7, who had clinical features of CHARGE syndrome and who had T-B + NK + SCID (two patients) or clinical features consistent with Omenn syndrome (two patients). 18505430 2008
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome
0.310 GermlineCausalMutation disease ORPHANET