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