has material basis in germline mutation in disease has basis in disruption of disease caused by disruption of GBA1 beta-galactosidase activity Gaucher disease type II https://github.com/monarch-initiative/mondo/issues/9285 https://www.malacards.org/card/gaucher_disease_type_ii Gaucher's disease type II Gaucher disease, acute neuronopathic type Gaucher disease, infantile cerebral UMLS:C0268250 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:0009266 acute neuronopathic Gaucher disease SCTID:12246008 GARD:0002442 DOID:0110958 infantile cerebral Gaucher disease MEDGEN:78652 Gaucher disease type II NANDO:1200058 NANDO:2201211 Orphanet:77260 OMIM:230900 interstitial lung disease specific to childhood Gaucher disease cerebral lipidosis with dementia