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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 23
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Accession:DOID:0111953 term browser browse the term
Definition:A combined T cell and B cells immunodeficiency characterized by marked atopy and autoimmunity caused by increased T(H)2 and T(H)17 cytokine production by CD4(+) T cells, T-cell lymphopenia, reduced memory B-cell numbers, recurrent respiratory and skin infections beginning in early childhood, increased serum IgE, and variable developmental delay or intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in PGM3 on chromosome 6q14.1. (DO)
Synonyms:exact_synonym: CID due to PGM3 deficiency;   IMD23;   IVMS;   Immunodeficiency-Vasculitis-Myoclonus Syndrome;   PGM3-CDG;   PGM3-related congenital disorder of glycosylation;   combined immunodeficiency due to PGM3 deficiency;   immunodeficiency with hyper IgE and cognitive impairment
 primary_id: OMIM:615816
 xref: GARD:4331;   NCI:C126339;   ORDO:443811
For additional species annotation, visit the Alliance of Genome Resources.



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immunodeficiency 23 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dop1a DOP1 leucine zipper like protein A ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:14981714 PMID:24033266 PMID:24589341 PMID:24698316 PMID:24931394 More... NCBI chr 8:87,415,266...87,517,935
Ensembl chr 8:87,414,593...87,518,353
JBrowse link
G Me1 malic enzyme 1 ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr 8:87,549,043...87,660,251
Ensembl chr 8:87,549,043...87,660,304
JBrowse link
G Pgm3 phosphoglucomutase 3 ISO ClinVar Annotator: match by term: Immunodeficiency 23 OMIM
ClinVar
PMID:1245758 PMID:3500672 PMID:9536098 PMID:14981714 PMID:16199547 More... NCBI chr 8:87,517,931...87,536,034
Ensembl chr 8:87,517,701...87,536,022
JBrowse link
G Prss35 serine protease 35 ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr 8:87,714,449...87,731,009
Ensembl chr 8:87,714,966...87,731,009
JBrowse link
G Rwdd2a RWD domain containing 2A ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr 8:87,536,153...87,539,301
Ensembl chr 8:87,536,176...87,539,300
JBrowse link
G Snap91 synaptosome associated protein 91 ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr 8:87,738,056...87,852,690
Ensembl chr 8:87,738,824...87,852,367
JBrowse link
G Tpbg trophoblast glycoprotein ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr 8:86,793,953...86,797,324
Ensembl chr 8:86,793,749...86,797,741
JBrowse link
G Ube3d ubiquitin protein ligase E3D ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr 8:87,245,503...87,413,104
Ensembl chr 8:87,245,589...87,413,057
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    syndrome 9634
      primary immunodeficiency disease 3820
        combined immunodeficiency 767
          combined T cell and B cell immunodeficiency 238
            immunodeficiency 23 8
Path 2
Term Annotations click to browse term
  disease 18109
    Developmental Disease 12858
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11550
        genetic disease 11085
          monogenic disease 8558
            autosomal genetic disease 7555
              autosomal recessive disease 4613
                immunodeficiency 23 8
paths to the root