GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis with variable neurological and systemic manifestations. [ Orphanet:79255 ]

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:79255 (OMIM:230500)
  • ICD10:E75.1 (Orphanet:79255)
  • DOID:0080502 (MONDO:equivalentTo)
  • GARD:0006479 (MONDO:equivalentTo)
  • SCTID:238026007 (MONDO:equivalentTo)
  • OMIM:230500 (Orphanet:79255)
Subsets

gard_rare, ordo_clinical_subtype

closeMatch

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

http://linkedlifedata.com/resource/umls/id/C1968748

definition

GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis with variable neurological and systemic manifestations.

exactMatch

http://identifiers.org/omim/230500

http://purl.obolibrary.org/obo/DOID_0080502

http://identifiers.org/snomedct/238026007

http://www.orpha.net/ORDO/Orphanet_79255

has alternative id

MONDO:0023211

has exact synonym

Norman-Landing disease

infantile GM1 gangliosidosis

has related synonym

GM1-gangliosidosis, type I

Beta-galactosidase-1 deficiency

GLB deficiency type 1

gangliosidosis generalized GM1 infantile form

gangliosidosis, generalized GM1, type I, with Cardiac involvement

gangliosidosis generalized GM1 type 1

GM1-gangliosidosis, type 1

GM1-gangliosidosis, type I, with Cardiac involvement

gangliosidosis, generalized GM1, infantile form

Beta galactosidase deficiency type 1

Glb1 deficiency

gangliosidosis, generalized GM1, type 1

id

MONDO:0009260

seeAlso

https://rarediseases.info.nih.gov/diseases/6479/gm1-gangliosidosis-type-1

Term relations