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Gaucher's disease type II
Summary
- Synonym
-
- GD II
- GD2
- Gaucher Disease, Acute Neuronopathic Type
- Infantile Cerebral Gaucher Disease
- 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.
- Super Class
- Gaucher's disease
External Links
- Disease Ontology
- DOID:0110958
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P04062 | Lysosomal acid glucosylceramidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001744 | Splenomegaly |
| HP:0001298 | Encephalopathy |
| HP:0002205 | Recurrent respiratory infections |
| HP:0000602 | Ophthalmoplegia |
| HP:0002098 | Respiratory distress |
| HP:0002793 | Abnormal pattern of respiration |
| HP:0001371 | Flexion contracture |
| HP:0000486 | Strabismus |
| HP:0002015 | Dysphagia |
| HP:0002240 | Hepatomegaly |
