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Repository for lectin-assisted multimodality data
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MIRAGE
Krabbe disease
Summary
- Synonym
-
- Diffuse globoid body sclerosis
- GLOBOID CELL LEUKOENCEPHALOPATHY
- Galactosylceramide beta-galactosidase deficiency
- Krabbe's disease
- Krabbe's leukodystrophy
- beta galactocerebrosidase deficiency
- globoid cell leukodystrophy
- Super Class
- sphingolipidosis
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P54803 | Galactocerebrosidase |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P54818 | Galactocerebrosidase | |
| Q61207 | Prosaposin |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001508 | Failure to thrive |
| HP:0001601 | Laryngomalacia |
| HP:0001955 | Unexplained fevers |
| HP:0002013 | Vomiting |
| HP:0002020 | Gastroesophageal reflux |
| HP:0002061 | Lower limb spasticity |
| HP:0002098 | Respiratory distress |
| HP:0002123 | Generalized myoclonic seizure |
| HP:0002179 | Opisthotonus |
| HP:0002344 | Progressive neurologic deterioration |
