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
Accession: DOID:0111959
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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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:24679846 PMID:25139357 PMID:25216719 PMID:25741868 PMID:26122175 PMID:28492532 PMID:30335863 PMID:32117824 More...
NCBI chr 8:41,515,613...41,576,229
Ensembl chr 8:38,960,594...39,020,971
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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
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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
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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
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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
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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
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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
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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
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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
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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
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all