Alpha-Mannosidosis
Disease ID: disease_node_4992
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| Dbxref | GARD:6968, MESH:D008363, MIM:248500, NCI:C84548, SNOMEDCT_US_2023_03_01:65524005, UMLS_CUI:C0024748 |
|---|---|
| Subclassof | DOID_3211 |
| Data Source | DOID, MESH |
| Synonyms | Alpha-D-mannosidosis, alpha-mannosidase deficiency, deficiency of alpha-mannosidase |
| Mesh Id | D008363 |
| Mesh Label | alpha-Mannosidosis |
| Mesh Subclassof | D044904 |
| Doid Label | alpha-mannosidosis |
| Doid Description | 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. OMIM mapping confirmed by DO. [SN]. |
| Disease Node Id | disease_node_4992 |
| Doid Id | DOID_3413 |
| Label | Alpha-Mannosidosis |
- Outgoing r'ship
SUBCLASS_OFto/from Lysosomal Storage Diseases(ID:disease_node_8717) (Disease)