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DO Term : alpha-mannosidosis [DOID:3413] Disease Ontology

Namespace  disease_ontology Obsolete  false
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.
  • synonyms:
  • NCI:C84548,
  • UMLS_CUI:C0024748,
  • 248500,
  • GARD:6968,
  • MESH:D008363,
  • deficiency of alpha-mannosidase,
  • Alpha-D-mannosidosis,
  • alpha-mannosidase deficiency,
  • SNOMEDCT_US_2023_03_01:65524005,
  • OMIM:248500
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Disease

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Diseases --> Mouse genes

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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents