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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • immunodeficiency 43
described by
id
  • DOID:0111981
database_cross_reference
  • MESH:C565476
  • OMIM:241600
has_exact_synonym
  • B2M deficiency
  • IMD43
  • beta-2-microglobulin deficiency
  • hypercatabolic hypoproteinemia
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • 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.
is topic of
is annotatedSource of
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