Sandhoff disease is a lysosomal storage disorder from the GM2 gangliosidosis family and is characterised by central nervous system degeneration. [ Orphanet:796 ]

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:796 (OMIM:268800)
  • UMLS:C0036161 (Orphanet:796)
  • DOID:3323 (MONDO:equivalentTo)
  • SCTID:23849003 (MONDO:equivalentTo)
  • MESH:D012497 (Orphanet:796)
  • GARD:0007604 (Orphanet-shared)
  • GARD:0002521 (MONDO:equivalentTo)
  • ICD10:E75.0 (Orphanet:796)
  • OMIM:268800 (Orphanet:796)
  • NCIT:C85052 (MONDO:equivalentTo)
  • ICD10:E75.01 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease

closeMatch

http://linkedlifedata.com/resource/umls/id/C1849322

http://linkedlifedata.com/resource/umls/id/C1849320

http://linkedlifedata.com/resource/umls/id/C1849321

definition

Sandhoff disease is a lysosomal storage disorder from the GM2 gangliosidosis family and is characterised by central nervous system degeneration.

exactMatch

http://purl.obolibrary.org/obo/NCIT_C85052

http://www.orpha.net/ORDO/Orphanet_796

http://identifiers.org/omim/268800

http://linkedlifedata.com/resource/umls/id/C0036161

http://purl.obolibrary.org/obo/DOID_3323

http://identifiers.org/snomedct/23849003

http://identifiers.org/mesh/D012497

has exact synonym

Sandhoff Jatzkewitz disease

GM2 gangliosidosis 0 variant

Sandhoff disease

Hexosaminidases A and B deficiency

has related synonym

GM2 gangliosidosis, type 2

Hexosaminidases a and B deficiency

total hexosaminidase deficiency

hexosaminidase A and B deficiency disease

Sandhoff disease, adult type

GM2 gangliosidosis, 0 variant

GM2-gangliosidosis, type 2

Sandhoff disease, infantile type

Beta-hexosaminidase-beta-subunit deficiency

Sandhoff-Jatzkewitz-Pilz disease

Sandhoff disease, juvenile type

id

MONDO:0010006