Search Ontology:
Human Disease
beta-mannosidosis
- Term ID
- DOID:3633
- Synonyms
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- Beta-D-mannosidosis
- beta-mannosidase deficiency
- lysosomal beta-mannosidase deficiency
- Definition
- A lysosomal storage disease that has_material_basis_in deficiency of the beta-A-manosidase enzyme resulting in the disruption of N-linked glycoprotein oligosaccharide catabolism. http://en.wikipedia.org/wiki/Beta-mannosidosis
- References
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- MESH:D044905
- MIM:248510
- NCI:C84596
- SNOMEDCT_US_2023_03_01:238047006
- UMLS_CUI:C4048196
- Ontology
- Human Disease ( DOID:3633 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models