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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 chrNW_004955536:1,049,325...1,237,943
Ensembl chrNW_004955536:1,049,407...1,237,943 		JBrowse link
G Ap3m2 adaptor related protein complex 3 subunit mu 2 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chrNW_004955536:767,470...900,268
Ensembl chrNW_004955536:767,306...812,204 		JBrowse link
G Chrna6 cholinergic receptor nicotinic alpha 6 subunit ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chrNW_004955536:166,212...172,551
Ensembl chrNW_004955536:166,212...172,551 		JBrowse link
G Chrnb3 cholinergic receptor nicotinic beta 3 subunit ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chrNW_004955536:189,881...229,835
Ensembl chrNW_004955536:190,949...232,424 		JBrowse link
G Fnta farnesyltransferase, CAAX box, subunit alpha ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chrNW_004955457:13,260,825...13,294,025
Ensembl chrNW_004955457:13,260,545...13,294,025 		JBrowse link
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chrNW_004955457:13,351,963...13,386,521
Ensembl chrNW_004955457:13,349,213...13,387,251 		JBrowse link
G Hook3 hook microtubule tethering protein 3 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chrNW_004955457:13,149,013...13,249,524
Ensembl chrNW_004955457:13,149,013...13,249,321 		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:16199547 PMID:17576681 PMID:24033266 More... NCBI chrNW_004955536:611,965...658,647
Ensembl chrNW_004955536:612,774...658,647 		JBrowse link
G Kat6a lysine acetyltransferase 6A ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chrNW_004955536:900,198...1,015,520
Ensembl chrNW_004955536:900,198...1,015,520 		JBrowse link
G Plat plasminogen activator, tissue type ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chrNW_004955536:730,962...754,333
Ensembl chrNW_004955536:730,981...756,394 		JBrowse link
G Polb DNA polymerase beta ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chrNW_004955536:542,179...595,198
Ensembl chrNW_004955536:540,836...595,198 		JBrowse link
G Pomk protein O-mannose kinase ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chrNW_004955457:13,299,176...13,318,535
Ensembl chrNW_004955457:13,309,564...13,317,825 		JBrowse link
G Rnf170 ring finger protein 170 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chrNW_004955457:13,093,914...13,148,800
Ensembl chrNW_004955457:13,096,483...13,147,637 		JBrowse link
G Slc20a2 solute carrier family 20 member 2 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chrNW_004955536:392,341...496,616
Ensembl chrNW_004955536:392,525...495,265 		JBrowse link
G Smim19 small integral membrane protein 19 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chrNW_004955536:380,062...384,608
Ensembl chrNW_004955536:377,517...387,978 		JBrowse link
G Thap1 THAP domain containing 1 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chrNW_004955457:13,077,015...13,088,406
Ensembl chrNW_004955457:13,072,697...13,088,406 		JBrowse link
G Vdac3 voltage dependent anion channel 3 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chrNW_004955536:507,393...520,399
Ensembl chrNW_004955536:505,901...520,399 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    syndrome 9329
      primary immunodeficiency disease 3474
        IMMUNODEFICIENCY 15 17
          immunodeficiency 15B 17
Path 2
Term Annotations click to browse term
  disease 16063
    Developmental Disease 15996
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 15949
        genetic disease 15939
          monogenic disease 9439
            autosomal genetic disease 8757
              autosomal recessive disease 6141
                immunodeficiency 15B 17
paths to the root