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

Echinobase Genes :


MIM:
MIM:230900 - gaucher disease, type ii

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

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