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DO Term : congenital disorder of glycosylation type IIb [DOID:0070254] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MOGS gene on chromosome 2p13.1.
  • synonyms:
  • ORDO:79330,
  • glucosidase I deficiency,
  • SNOMEDCT_US_2023_03_01:725028009,
  • OMIM:606056,
  • 606056,
  • UMLS_CUI:C1853736,
  • GARD:10767,
  • MESH:C565264,
  • CDG2B,
  • CDGIIb,
  • CDG IIb
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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