atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
http://purl.obolibrary.org/obo/MONDO_0008843
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. [ Orphanet:1192 ]
Term info
- MESH:C565928 (MONDO:equivalentTo)
- Orphanet:1192 (OMIM:209010)
- OMIM:209010 (Orphanet:1192/e)
- SCTID:720519003 (MONDO:equivalentTo)
- GARD:0002279 (MONDO:equivalentTo)
ordo_malformation_syndrome
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.
http://identifiers.org/mesh/C565928, http://identifiers.org/snomedct/720519003, https://omim.org/entry/209010, http://purl.obolibrary.org/obo/Orphanet_1192
Feigenbaum-Bergeron-Richardson syndrome
premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, and neurodegenerative disorder, atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease, Feigenbaum Bergeron Richardson syndrome
MONDO:0008843