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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:0001332 | Dystonia |
| HP:0012735 | Cough |
| HP:0001695 | Cardiac arrest |
| HP:0001257 | Spasticity |
| HP:0002123 | Generalized myoclonic seizure |
| HP:0001873 | Thrombocytopenia |
| HP:0000565 | Esotropia |
| HP:0002059 | Cerebral atrophy |
| HP:0010307 | Stridor |
| HP:0001508 | Failure to thrive |
