OBO ID: DOID:0111981
Term Name: immunodeficiency 43 Search Ontology:
Synonyms:
  • B2M deficiency
  • beta-2-microglobulin deficiency
  • hypercatabolic hypoproteinemia
  • IMD43
Definition: 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. (2)
References:
Ontology: Human Disease   (DOID:0111981)
OTHER immunodeficiency 43 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
B2M Immunodeficiency 43 241600
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None