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DO Term : Gaucher's disease type II [DOID:0110958] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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:
ICD10CM:E75.2,
Gaucher Disease, Acute Neuronopathic Type,
ORDO:77260,
Infantile Cerebral Gaucher Disease,
230900,
GD2,
OMIM:230900,
GD II

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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