GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis characterized by onset generally during childhood or adolescence and by cerebellar dysfunction. [ Orphanet:79257 ]

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:0002431 (MONDO:equivalentTo)
  • DOID:0080489 (MONDO:equivalentTo)
  • SCTID:238027003 (MONDO:equivalentTo)
  • ICD10:E75.1 (Orphanet:79257)
  • OMIM:230650 (Orphanet:79257)
  • Orphanet:79257 (OMIM:230650)
Subsets

gard_rare, ordo_clinical_subtype

closeMatch

http://linkedlifedata.com/resource/umls/id/C0268273

definition

GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis characterized by onset generally during childhood or adolescence and by cerebellar dysfunction.

exactMatch

http://identifiers.org/snomedct/238027003

http://www.orpha.net/ORDO/Orphanet_79257

http://purl.obolibrary.org/obo/DOID_0080489

http://identifiers.org/omim/230650

has exact synonym

adult-onset GM1 gangliosidosis

has related synonym

gangliosidosis, generalized GM1, chronic type

GM1-gangliosidosis, type III

gangliosidosis generalized GM1 chronic type

gangliosidosis GM1 type 3

gangliosidosis, generalized GM1, adult type

GM1-gangliosidosis, type 3

Beta-galactosidase deficiency type 3

adult GM1 gangliosidosis

gangliosidosis, generalized GM1, type 3

id

MONDO:0009262

seeAlso

https://rarediseases.info.nih.gov/diseases/2431/gm1-gangliosidosis-type-3

Term relations

Subclass of: