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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,
Echinobase Genes :
MIM:230900 - 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)