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DO Term : immunodeficiency 43 [DOID:0111981] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A primary immunodeficiency disease characterized by recurrent infections, reduced serum concentrations of immunoglobulin G and albumin due to rapid degradation of these proteins, abnormal renal or liver function, and excessive gastrointestinal protein that has_material_basis_in homozygous or compound heterozygous mutation in B2M on chromosome 15q21.1.
  • synonyms:
  • hypercatabolic hypoproteinemia,
  • 241600,
  • B2M deficiency,
  • OMIM:241600,
  • MESH:C565476,
  • IMD43,
  • beta-2-microglobulin deficiency
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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