About   Help   FAQ
Disease Ontology Browser
Gaucher's disease type II (DOID:0110958)
Alliance: disease page
Synonyms: Gaucher Disease, Acute Neuronopathic Type; GD2; GD II; Infantile Cerebral Gaucher Disease
Alt IDs: OMIM:230900, ICD10CM:E75.2, ORDO:77260
Definition: A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22.

Disease References using Mouse Models (3)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
03/25/2025
MGI 6.24 		The Jackson Laboratory