Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis, characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life. [ Orphanet:812 ]

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:0007639 (Orphanet-shared)
  • ICD10:E77.1 (Orphanet:812)
  • UMLS:C0023806 (Orphanet:812)
  • UMLS:CN206021 (MONDO:equivalentTo)
  • Orphanet:812 (MONDO:equivalentTo)
  • SCTID:34960006 (MONDO:equivalentTo)
Subsets

ordo_disease

closeMatch

http://linkedlifedata.com/resource/umls/id/C0268226

http://linkedlifedata.com/resource/umls/id/C1850510

definition

Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis, characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life.

exactMatch

http://linkedlifedata.com/resource/umls/id/C0023806

http://identifiers.org/snomedct/34960006

http://www.orpha.net/ORDO/Orphanet_812

http://linkedlifedata.com/resource/umls/id/CN206021

has exact synonym

Normomorphic sialidosis

normosomatic sialidosis

lipomucopolysaccharidosis

cherry-red spot-myoclonus syndrome

has related synonym

myoclonus cherry red spot syndrome

sialidosis type I

cherry red spot myoclonus syndrome

id

MONDO:0019346