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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:241600
ClinVar Annotator: match by term: Hypoproteinemia, hypercatabolic
OMIM
ClinVar
PMID:4186801 PMID:16549777 PMID:25702838 PMID:28492532 NCBI chr 3:114,087,287...114,093,311
Ensembl chr 3:114,087,287...114,093,309
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      primary immunodeficiency disease 2375
        immunodeficiency 43 1
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal recessive disease 2628
                immunodeficiency 43 1
paths to the root