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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 homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22.

Synonyms: GD II, GD2, Gaucher Disease, Acute Neuronopathic Type, Infantile Cerebral Gaucher Disease,

Xenbase Genes : gba1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009266 - Gaucher disease type II


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): Gaucher's disease (is_a), genetic disease (is_a)