EOS, eosinophilia, familial, 7908

N. diseases: 36; N. variants: 0
Disease: Granulomatous disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0740451
Disease: Granulomatous disorder
Granulomatous disorder 		0.010 GeneticVariation group BEFREE Whereas loss-of-function NOD2 polymorphisms cause CD, a granulomatous disease of the gastrointestinal tract, gain-of-function mutations cause EOS-a granulomatous disease primarily affecting the skin, joints, and eyes. 23794710 2013