Gaucher disease type II
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.
MONDO:0017014
interstitial lung disease specific to childhood
excluded_subClassOf
MONDO:0020143
cerebral lipidosis with dementia
excluded_subClassOf
MONDO:0018150
Gaucher disease
is_a
Gaucher disease type II
exact
Gaucher disease, acute neuronopathic type
exact
Gaucher disease, infantile cerebral
related
Gaucher's disease type II
exact
acute neuronopathic Gaucher disease
exact
infantile cerebral Gaucher disease
exact