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atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome

Disease Summary
Associated Targets ()

Mondo Description Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome is characterised by sensorineural deafness, diabetes mellitus, progressive neurological deterioration with photomyoclonic epilepsy, and progressive nephropathy. It has been described in two brothers. Premature atherosclerosis of renal, coronary, and cerebral arteries and the aorta was also observed.
Mondo Term and Equivalent IDs
MONDO:0008843:  atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
GARD:0002279: 
MESH:C565928: 
Orphanet:1192: 
SCTID:720519003: