WormBase Tree Display for DO_term: DOID:3413
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DOID:3413 | Name | alpha-mannosidosis | |||
---|---|---|---|---|---|
Status | Valid | ||||
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. | ||||
Comment | OMIM mapping confirmed by DO. | ||||
Synonym | Exact | Alpha-D-mannosidosis | |||
alpha-mannosidase deficiency | |||||
deficiency of alpha-mannosidase | |||||
Parent | Is_a | DOID:3211 | |||
DB_info | Database | OMIM | disease | 248500 | |
Attribute_of | Gene_by_orthology | WBGene00018877 |