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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:0002191 | Progressive spasticity |
| HP:0002333 | Motor deterioration |
| HP:0003593 | Infantile onset |
| HP:0007928 | Abnormal flash visual evoked potentials |
| HP:0011462 | Young adult onset |
| HP:0011463 | Childhood onset |
