GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features. [ Orphanet:354 ]

This is just here as a test because I lose it

Term information

database cross reference
  • ICD10:E75.1 (Orphanet:354)
  • UMLS:C0085131 (Orphanet:354)
  • SCTID:124465002 (MONDO:equivalentTo)
  • DOID:3322 (MONDO:equivalentTo)
  • MESH:D016537 (Orphanet:354)
  • NCIT:C84739 (MONDO:equivalentTo)
  • ICD10:E75.19 (DOID:3322)
  • ICD9:277.6 (i2s)
  • Orphanet:354 (MONDO:equivalentTo)
  • GARD:0010891 (Orphanet-shared)
Subsets

ordo_disease

closeMatch

http://linkedlifedata.com/resource/umls/id/C0268271

http://linkedlifedata.com/resource/umls/id/C2718068

http://identifiers.org/snomedct/32917001

http://identifiers.org/snomedct/238025006

definition

GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features.

exactMatch

http://www.orpha.net/ORDO/Orphanet_354

http://identifiers.org/snomedct/124465002

http://purl.obolibrary.org/obo/NCIT_C84739

http://identifiers.org/mesh/D016537

http://purl.obolibrary.org/obo/DOID_3322

http://linkedlifedata.com/resource/umls/id/C0085131

has exact synonym

Beta-galactosidase deficiency

Beta-galactosidase-1 deficiency

Landing syndrome

gangliosidosis GM1

GM>1< gangliosidosis

GLB1 deficiency

Landing disease

deficiency of beta-galactosidase

beta-galactosidase deficiency

has related synonym

GLB 1 deficiency

Beta galactosidase 1 deficiency

Beta-galactosidosis

id

MONDO:0018149