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DO Term : beta-mannosidosis [DOID:3633] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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.

synonyms:
Beta-D-mannosidosis,
SNOMEDCT_US_2023_03_01:238047006,
NCI:C84596,
OMIM:248510,
beta-mannosidase deficiency,
UMLS_CUI:C4048196,
248510,
MESH:D044905,
lysosomal beta-mannosidase deficiency

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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