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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:0000483 | Astigmatism |
| HP:0000010 | Recurrent urinary tract infections |
| HP:0000520 | Proptosis |
| HP:0000337 | Broad forehead |
| HP:0000545 | Myopia |
| HP:0000280 | Coarse facial features |
| HP:0000470 | Short neck |
| HP:0000708 | Atypical behavior |
| HP:0000303 | Mandibular prognathia |
| HP:0000486 | Strabismus |
