GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis characterized by normal early development and psychomotor regression between seven months and three years of age. [ Orphanet:79256 ]

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:79256 (OMIM:230600)
  • DOID:0080501 (MONDO:equivalentTo)
  • GARD:0010126 (MONDO:equivalentTo)
  • ICD10:E75.1 (Orphanet:79256)
  • OMIM:230600 (Orphanet:79256)
  • SCTID:18756002 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_clinical_subtype

closeMatch

http://linkedlifedata.com/resource/umls/id/C1968746

http://linkedlifedata.com/resource/umls/id/C0268272

definition

GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis characterized by normal early development and psychomotor regression between seven months and three years of age.

exactMatch

http://identifiers.org/omim/230600

http://purl.obolibrary.org/obo/DOID_0080501

http://identifiers.org/snomedct/18756002

http://www.orpha.net/ORDO/Orphanet_79256

has exact synonym

late-infantile GM1 gangliosidosis

juvenile GM1 gangliosidosis

has related synonym

GM1-gangliosidosis, type II

gangliosidosis, generalized GM1, juvenile type

gangliosidosis generalized GM1 juvenile type

gangliosidosis, generalized GM1, late-infantile type

GM1-gangliosidosis, type 2

gangliosidosis, generalized GM1, type 2

gangliosidosis generalized GM1 type 2

id

MONDO:0009261

seeAlso

https://rarediseases.info.nih.gov/diseases/10126/gm1-gangliosidosis-type-2

Term relations

Subclass of: