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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 chr16:68,876,294...69,054,963
Ensembl chr16:68,877,504...69,054,759
JBrowse link
G Ap3m2 adaptor related protein complex 3 subunit mu 2 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:69,217,526...69,237,372
Ensembl chr16:69,217,633...69,235,431
JBrowse link
G Chrna6 cholinergic receptor nicotinic alpha 6 subunit ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:64,697,741...64,704,441
Ensembl chr16:64,697,741...64,704,441
JBrowse link
G Chrnb3 cholinergic receptor nicotinic beta 3 subunit ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:64,713,438...64,751,360
Ensembl chr16:64,714,169...64,751,360
JBrowse link
G Dkk4 dickkopf WNT signaling pathway inhibitor 4 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:69,403,215...69,406,580
Ensembl chr16:69,402,989...69,406,580
JBrowse link
G Fnta farnesyltransferase, CAAX box, alpha ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:66,065,131...66,083,460
Ensembl chr16:66,065,132...66,083,460
JBrowse link
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:66,105,233...66,137,444
Ensembl chr16:66,105,181...66,136,138
JBrowse link
G Hook3 hook microtubule-tethering protein 3 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:65,954,293...66,058,812
Ensembl chr16:65,954,350...66,061,338
JBrowse link
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:10195897 PMID:17576681 PMID:24033266 PMID:24369075 More... NCBI chr16:69,319,487...69,373,251
Ensembl chr16:69,319,554...69,373,250
JBrowse link
G Kat6a lysine acetyltransferase 6A ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:69,084,914...69,165,923
Ensembl chr16:69,084,914...69,163,606
JBrowse link
G Plat plasminogen activator, tissue type ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
JBrowse link
G Polb DNA polymerase beta ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:69,379,438...69,402,710
Ensembl chr16:69,379,400...69,404,812
JBrowse link
G Pomk protein-O-mannose kinase ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:66,085,569...66,101,360
Ensembl chr16:66,088,000...66,098,388
JBrowse link
G Rnf170 ring finger protein 170 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:65,928,886...65,954,092
Ensembl chr16:65,928,895...65,954,083
JBrowse link
G Slc20a2 solute carrier family 20 member 2 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:69,460,850...69,551,418
Ensembl chr16:69,460,462...69,521,711
JBrowse link
G Smim19 small integral membrane protein 19 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:69,551,507...69,564,323
Ensembl chr16:69,553,916...69,567,245
JBrowse link
G Thap1 THAP domain containing 1 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:65,905,348...65,909,942
Ensembl chr16:65,904,230...65,909,942
JBrowse link
G Vdac3 voltage-dependent anion channel 3 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:69,434,982...69,451,473
Ensembl chr16:69,435,005...69,451,471
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21155
    syndrome 10787
      primary immunodeficiency disease 4146
        IMMUNODEFICIENCY 15 18
          immunodeficiency 15B 18
Path 2
Term Annotations click to browse term
  disease 21155
    Developmental Disease 18469
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18327
        genetic disease 18271
          monogenic disease 10324
            autosomal genetic disease 9470
              autosomal recessive disease 6524
                immunodeficiency 15B 18
paths to the root