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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:immunodeficiency 43
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Accession:DOID:0111981 term browser browse the term
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. (DO)
Synonyms:exact_synonym: B2M deficiency;   BETA-2-MICROGLOBULIN DEFICIENCY;   IMD43;   hypercatabolic hypoproteinemia
 primary_id: MESH:C565476
 alt_id: OMIM:241600



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immunodeficiency 43 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B2m beta-2 microglobulin ISO ClinVar Annotator: match by term: Hypoproteinemia, hypercatabolic
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:4186801 PMID:16549777 PMID:25702838 PMID:25741868 PMID:28492532 NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21121
    syndrome 10792
      primary immunodeficiency disease 4141
        immunodeficiency 43 1
Path 2
Term Annotations click to browse term
  disease 21121
    Developmental Disease 18439
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18299
        genetic disease 18243
          monogenic disease 10326
            autosomal genetic disease 9476
              autosomal recessive disease 6551
                immunodeficiency 43 1
paths to the root