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Disease Ontology Browser
Gaucher's disease type II (DOID:0110958)
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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)
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Send questions and comments to User Support. 		last database update
03/18/2025
MGI 6.24 		The Jackson Laboratory