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Summary Literature (0)
DOID:0110958 - Gaucher's disease type II


Disease Ontology Definition:A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in an autosomal recessive mutation of GBA on chromosome 1q22.

Synonyms: GD II, Gaucher Disease, Acute Neuronopathic Type, Infantile Cerebral Gaucher Disease

In OMIM:
OMIM:230900 - GAUCHER DISEASE, TYPE II; GD2

In Mondo Disease Ontology:
MONDO:0009266 - Gaucher disease type II

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : gba

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): Gaucher's disease (is_a), genetic disease (is_a)