Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2. [ Orphanet:77260 ]

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:0002442 (Orphanet-shared)
  • DOID:0110958 (MONDO:equivalentTo)
  • ICD10:E75.2 (Orphanet:77260)
  • OMIM:230900 (Orphanet:77260)
  • Orphanet:77260 (OMIM:230900)
  • SCTID:12246008 (MONDO:equivalentTo)
Subsets

ordo_clinical_subtype

definition

Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.

exactMatch

http://identifiers.org/omim/230900

http://purl.obolibrary.org/obo/DOID_0110958

http://www.orpha.net/ORDO/Orphanet_77260

http://linkedlifedata.com/resource/umls/id/C0268250

http://identifiers.org/snomedct/12246008

has exact synonym

acute neuronopathic Gaucher disease

infantile cerebral Gaucher disease

GD II

Gaucher's disease type II

Gaucher disease, acute neuronopathic type

has related synonym

Gaucher disease, type II

Gaucher disease, type 2

Gaucher disease type 2

Gaucher disease, infantile cerebral

Gd 2

id

MONDO:0009266