Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
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 the PGM3 gene 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


show annotations for term's descendants           Sort by:
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-VASCULITIS-MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:9536098 PMID:14981714 PMID:17548465 PMID:17576681 PMID:24033266 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-VASCULITIS-MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Immunodeficiency 23
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1245758 PMID:3500672 PMID:9536098 PMID:14981714 PMID:16199547 More... NCBI chr 8:87,518,317...87,536,021
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 18969
    syndrome 10888
      primary immunodeficiency disease 4152
        combined immunodeficiency 896
          combined T cell and B cell immunodeficiency 337
            immunodeficiency 23 8
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13417
        genetic disease 13036
          monogenic disease 10420
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                immunodeficiency 23 8
paths to the root