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diverticulosis of bowel, hernia, and retinal detachment

Disease Summary
Associated Targets ()

Mondo Description A syndromic intestinal malformation characterized by the association of marfanoid habitus with visceral diverticula. It has been reported in four adults and two siblings from a consanguineous marriage in two different publications. Pediatric cases also presented with diaphragmatic hernia. Other connective tissue disorders with visceral diverticula have been reported previously, suggesting a relationship between these two conditions.
Mondo Term and Equivalent IDs
MONDO:0009120:  diverticulosis of bowel, hernia, and retinal detachment
GARD:0003401: 
MESH:C565619: 
Orphanet:2464: 
UMLS:C1857227: