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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 | |
| P12821 | Angiotensin-converting enzyme | |
| Q13231 | Chitotriosidase-1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000211 | Trismus |
| HP:0002483 | Bulbar signs |
| HP:0001276 | Hypertonia |
| HP:0011950 | Bronchiolitis |
| HP:0001538 | Protuberant abdomen |
| HP:0000657 | Oculomotor apraxia |
| HP:0002100 | Recurrent aspiration pneumonia |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001903 | Anemia |
| HP:0002344 | Progressive neurologic deterioration |
