Mondo Description 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.
Uniprot Description The most severe form of Gaucher disease. It manifests soon after birth, with death generally occurring before patients reach two years of age.
Mondo Term and Equivalent IDs
MONDO:0009266: Gaucher disease type II