Search Ontology:
Human Disease
alpha-mannosidosis
- Term ID
- DOID:3413
- Synonyms
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- 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. http://en.wikipedia.org/wiki/Alpha-mannosidosis
- References
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- GARD:6968
- MESH:D008363
- MIM:248500
- NCI:C84548
- SNOMEDCT_US_2023_03_01:65524005
- UMLS_CUI:C0024748
- Ontology
- Human Disease ( DOID:3413 )
- is a type of
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Genes Involved
Zebrafish Models