Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0156147
Disease: Crohn's disease of large bowel
Crohn's disease of large bowel
0.010 GeneticVariation disease BEFREE Clinically, our HPS-4 patients exhibited iris transillumination, variable hair and skin pigmentation, absent platelet dense bodies, and occasional pulmonary fibrosis and granulomatous colitis, a severe phenotype similar to that of patients with HPS-1. 12664304 2003