GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency. [ Orphanet:845 ]

This is just here as a test because I lose it

Term information

database cross reference
  • ICD10:E75.0 (Orphanet:845)
  • MESH:D013661 (Orphanet:845)
  • GARD:0007737 (MONDO:equivalentTo)
  • NCIT:C85184 (MONDO:equivalentTo)
  • OMIM:272800 (Orphanet:845)
  • ICD10:E75.02 (MONDO:equivalentTo)
  • SCTID:111385000 (MONDO:equivalentTo)
  • Orphanet:845 (OMIM:272800)
  • UMLS:C0039373 (Orphanet:845)
  • DOID:3320 (MONDO:equivalentTo)
  • MedDRA:10043147 (Orphanet:845)
Subsets

gard_rare, ordo_disease

closeMatch

http://linkedlifedata.com/resource/umls/id/C1848913

http://linkedlifedata.com/resource/umls/id/C1848916

http://linkedlifedata.com/resource/umls/id/C1848917

http://linkedlifedata.com/resource/umls/id/C1848915

http://linkedlifedata.com/resource/umls/id/C2749283

definition

GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency.

exactMatch

http://purl.obolibrary.org/obo/NCIT_C85184

http://identifiers.org/snomedct/111385000

http://www.orpha.net/ORDO/Orphanet_845

http://identifiers.org/omim/272800

http://identifiers.org/mesh/D013661

http://linkedlifedata.com/resource/umls/id/C1848922

http://linkedlifedata.com/resource/umls/id/C0039373

http://identifiers.org/meddra/10043147

http://purl.obolibrary.org/obo/DOID_3320

has exact synonym

Tay-Sachs disease

disease, Tay-Sachs

GM2 gangliosidosis, B, B1 variant

hexosaminidase A deficiency

has related synonym

TAY-Sachs disease

hexosaminidase a deficiency, adult type

TSD

sphingolipidosis, Tay-Sachs

Tay-Sachs disease, variant B1

B variant GM2 gangliosidosis

Tay-Sachs disease, pseudo-Ab variant

GM2-gangliosidosis, variant B1

hexosaminidase alpha-subunit deficiency (variant B)

GM2 gangliosidosis, type 1

hexa deficiency

B variant GM2-gangliosidosis

GM2-gangliosidosis, adult chronic type

hexosaminidase a deficiency

Tay-Sachs disease, juvenile

gangliosidosis GM2, type 1

GM2-gangliosidosis, type 1

id

MONDO:0010100

seeAlso

https://rarediseases.info.nih.gov/diseases/7737/tay-sachs-disease