GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency. [ Orphanet:309246 ]

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:D049290 (MONDO:equivalentTo)
  • OMIM:272750 (Orphanet:309246)
  • NCIT:C133084 (MONDO:equivalentTo)
  • Orphanet:309246 (OMIM:272750)
  • ICD10:E75.0 (Orphanet:309246)
  • DOID:4795 (MONDO:equivalentTo)
  • SCTID:71253000 (MONDO:equivalentTo)
  • UMLS:C0268275 (Orphanet:309246)
Subsets

ordo_disease

definition

GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency.

exactMatch

http://identifiers.org/omim/272750

http://purl.obolibrary.org/obo/DOID_4795

http://identifiers.org/mesh/D049290

http://linkedlifedata.com/resource/umls/id/C0268275

http://www.orpha.net/ORDO/Orphanet_309246

http://purl.obolibrary.org/obo/NCIT_C133084

http://identifiers.org/snomedct/71253000

has exact synonym

Tay-Sachs disease, variant AB

hexosaminidase activator deficiency

has related synonym

GM2 gangliosidosis, AB variant

GM2-gangliosidosis, AB variant

Tay-Sachs disease, AB variant

Ab variant GM2-gangliosidosis

GM2 activator deficiency

id

MONDO:0010099