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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 15B
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Accession:DOID:0111959 term browser browse the term
Definition:A severe combined immunodeficiency characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections, failure to thrive, impaired differentiation and activation of immune cells, and hypo- or agammaglobulinemia but relatively normal B and T cell numbers that has_material_basis_in homozygous or compound heterozygous mutation in the IKBKB gene on chromosome 8p11.21. (DO)
Synonyms:exact_synonym: IMD15B
 primary_id: OMIM:615592



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immunodeficiency 15B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANK1 ankyrin 1 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr 8:40,897,879...41,140,290
Ensembl chr 8:38,346,503...38,588,549
JBrowse link
G AP3M2 adaptor related protein complex 3 subunit mu 2 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr 8:41,397,123...41,415,379
Ensembl chr 8:38,842,811...38,861,030
JBrowse link
G CHRNA6 cholinergic receptor nicotinic alpha 6 subunit ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr 8:42,000,748...42,016,913
Ensembl chr 8:39,444,447...39,460,569
JBrowse link
G CHRNB3 cholinergic receptor nicotinic beta 3 subunit ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr 8:41,947,062...41,987,159
Ensembl chr 8:39,391,001...39,429,926
JBrowse link
G DKK4 dickkopf WNT signaling pathway inhibitor 4 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr 8:41,618,173...41,638,550
Ensembl chr 8:39,062,711...39,082,575
JBrowse link
G FNTA farnesyltransferase, CAAX box, subunit alpha ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr 8:42,303,987...42,333,743
Ensembl chr 8:39,743,768...39,774,031
JBrowse link
G HGSNAT heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr 8:42,388,406...42,448,466 JBrowse link
G HOOK3 hook microtubule tethering protein 3 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr 8:42,145,427...42,278,727
Ensembl chr 8:39,595,762...39,711,043
JBrowse link
G IKBKB inhibitor of nuclear factor kappa B kinase subunit beta ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B OMIM
ClinVar
PMID:9536098 PMID:10195897 PMID:17576681 PMID:24033266 PMID:24369075 More... NCBI chr 8:41,515,613...41,576,229
Ensembl chr 8:38,960,594...39,020,971
JBrowse link
G KAT6A lysine acetyltransferase 6A ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr 8:41,173,833...41,296,547
Ensembl chr 8:38,625,156...38,741,538
JBrowse link
G PLAT plasminogen activator, tissue type ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr 8:41,419,415...41,451,951
Ensembl chr 8:38,864,918...38,897,779
JBrowse link
G POLB DNA polymerase beta ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr 8:41,582,370...41,615,950
Ensembl chr 8:39,026,991...39,060,464
JBrowse link
G POMK protein O-mannose kinase ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr 8:42,340,500...42,371,426
Ensembl chr 8:39,790,758...39,811,239
JBrowse link
G RNF170 ring finger protein 170 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr 8:42,097,900...42,145,327
Ensembl chr 8:39,541,479...39,588,163
JBrowse link
G SLC20A2 solute carrier family 20 member 2 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr 8:41,663,200...41,786,314
Ensembl chr 8:39,109,265...39,162,456
JBrowse link
G SMIM19 small integral membrane protein 19 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr 8:41,785,396...41,799,520
Ensembl chr 8:39,229,944...39,241,096
JBrowse link
G THAP1 THAP domain containing 1 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr 8:42,084,934...42,092,044
Ensembl chr 8:39,528,366...39,535,207
JBrowse link
G VDAC3 voltage dependent anion channel 3 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr 8:41,638,522...41,652,637
Ensembl chr 8:39,082,698...39,097,437
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18006
    syndrome 10118
      primary immunodeficiency disease 3792
        IMMUNODEFICIENCY 15 18
          immunodeficiency 15B 18
Path 2
Term Annotations click to browse term
  disease 18006
    Developmental Disease 17892
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17809
        genetic disease 17793
          monogenic disease 10204
            autosomal genetic disease 9386
              autosomal recessive disease 6501
                immunodeficiency 15B 18
paths to the root