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MIRAGE
alpha-mannosidosis
Summary
- Synonym
-
- Alpha-D-mannosidosis
- alpha-mannosidase deficiency
- deficiency of alpha-mannosidase
- Definition
- A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome.
- Super Class
- lysosomal storage disease
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O00754 | Lysosomal alpha-mannosidase |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q3TBM1 | Alpha-mannosidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0004437 | Cranial hyperostosis |
| HP:0004684 | Talipes valgus |
| HP:0005280 | Depressed nasal bridge |
| HP:0005791 | Cortical thickening of long bone diaphyses |
| HP:0007957 | Corneal opacity |
| HP:0008821 | Hypoplastic inferior ilia |
| HP:0009062 | Infantile axial hypotonia |
| HP:0010471 | Oligosacchariduria |
| HP:0010665 | Bilateral coxa valga |
| HP:0010885 | Avascular necrosis |
