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Tay-Sachs disease

Go to external page http://purl.obolibrary.org/obo/MONDO_0010100

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

Synonyms: Tay-Sachs disease disease, Tay-Sachs GM2-gangliosidosis, several forms Hex A pseudodeficiency GM2 gangliosidosis, B, B1 variant hexosaminidase A deficiency

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:845 (OMIM:272800)
  • MedDRA:10043147 (Orphanet:845/e)
  • NCIT:C85184 (MONDO:equivalentTo)
  • DOID:3320 (MONDO:equivalentTo)
  • GARD:7737 (Orphanet:845)
  • NORD:1761 (MONDO:NORD)
  • SCTID:111385000 (MONDO:equivalentTo)
  • MESH:D013661 (Orphanet:845/e)
  • ICD10CM:E75.02 (MONDO:equivalentTo)
  • OMIM:272800 (Orphanet:845/e)
  • UMLS:C0039373 (Orphanet:845/e)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521

closeMatch

http://identifiers.org/meddra/10043147

exactMatch

https://omim.org/entry/272800

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

http://identifiers.org/snomedct/111385000

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

http://identifiers.org/mesh/D013661

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

http://purl.bioontology.org/ontology/ICD10CM/E75.02

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

has related synonym

TAY-Sachs disease

hexosaminidase a deficiency, adult type

TSD

Tay-Sachs disease, variant B1

sphingolipidosis, Tay-Sachs

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://search.clinicalgenome.org/kb/conditions/MONDO:0010100

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