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deafness-small bowel diverticulosis-neuropathy syndrome

Disease Summary
Associated Targets ()

Mondo Description Deafness-small bowel diverticulosis-neuropathy syndrome is characterised by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities (progressive loss of gastric motility, small bowel diverticulosis).
Mondo Term and Equivalent IDs
MONDO:0009086:  deafness-small bowel diverticulosis-neuropathy syndrome
GARD:0002568: 
MESH:C537305: 
OMIM:221400: DEAFNESS, NERVE TYPE, WITH MESENTERIC DIVERTICULA OF SMALL BOWEL AND PROGRESSIVE SENSORY NEUROPATHY
Orphanet:3217: 
SCTID:733071009: 
UMLS:C1857338: