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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 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002240 | Hepatomegaly |
| HP:0002280 | Enlarged cisterna magna |
| HP:0002718 | Recurrent bacterial infections |
| HP:0002980 | Femoral bowing |
| HP:0003302 | Spondylolisthesis |
| HP:0003487 | Babinski sign |
| HP:0004313 | Decreased circulating antibody level |
| HP:0004570 | Increased vertebral height |
| HP:0005469 | Flat occiput |
| HP:0005619 | Thoracolumbar kyphosis |
