A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS. [ EFO-Orphanet:309152 ]

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:0002522 (MONDO:superClassOf)
  • MESH:D020143 (MONDO:equivalentTo)
  • SCTID:33316007 (MONDO:equivalentTo)
  • Orphanet:309152 (MONDO:equivalentTo)
  • UMLS:C0268274 (Orphanet:309152)
  • ICD10:E75.00 (DOID:3321)
  • DOID:3321 (MONDO:equivalentTo)
  • ICD10:E75.0 (Orphanet:309152)
Subsets

gard_rare, ordo_group_of_disorders

definition

A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS.

exactMatch

http://purl.obolibrary.org/obo/DOID_3321

http://identifiers.org/mesh/D020143

http://www.orpha.net/ORDO/Orphanet_309152

http://linkedlifedata.com/resource/umls/id/C0268274

http://identifiers.org/snomedct/33316007

has exact synonym

GM>2< gangliosidosis

gangliosidosis GM2

has related synonym

GM2-gangliosidosis, B, B1, AB variant

id

MONDO:0017720