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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 21
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Accession:DOID:0111947 term browser browse the term
Definition:A primary immunodeficiency disease characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells with normal or nearly normal T cell numbers that has_material_basis_in heterozygous mutation in the GATA2 gene on chromosome 3q21.3. (DO)
Synonyms:exact_synonym: COMBINED IMMUNODEFICIENCY WITH SUSCEPTIBILITY TO MYCOBACTERIAL, VIRAL, AND FUNGAL INFECTIONS;   DCML;   DENDRITIC CELL, MONOCYTE, B LYMPHOCYTE, AND NATURAL KILLER LYMPHOCYTE DEFICIENCY;   GATA2 deficiency;   IMD21;   MONOMAC;   dendritic cell, monocyte, B and NK lymphoid deficiency;   monocyte-B-natural killer-dendritic cell deficiency syndrome;   monocytopenia and mycobacterial infection syndrome;   monocytopenia with susceptibility to infections;   monocytopenia with susceptibility to mycobacterial, fungal, and papillomavirus infections and myelodysplasia;   monomac monocytopenia with susceptibility to mycobacterial, fungal, and papillomavirus infections and myelodysplasia
 primary_id: MESH:D000077428
 alt_id: OMIM:614172
 xref: GARD:10934;   NCI:C126349;   ORDO:228423


show annotations for term's descendants           Sort by:
immunodeficiency 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abtb1 ankyrin repeat and BTB domain containing 1 ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY ClinVar PMID:28492532 NCBI chr 4:121,299,302...121,305,667
Ensembl chr 4:121,299,304...121,305,620 		JBrowse link
G Acad9 acyl-CoA dehydrogenase family, member 9 ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY | ClinVar Annotator: match by term: Monocytopenia with susceptibility to infections ClinVar PMID:22147895 PMID:23223431 PMID:28492532 NCBI chr 2:118,943,170...118,966,150
Ensembl chr 2:118,943,174...118,966,547 		JBrowse link
G Atp2c1 ATPase secretory pathway Ca2+ transporting 1 ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY ClinVar PMID:28492532 NCBI chr 8:106,034,777...106,155,854
Ensembl chr 8:106,034,636...106,156,006 		JBrowse link
G Cfap92 cilia and flagella associated protein 92 ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY ClinVar PMID:28492532 NCBI chr 4:120,126,565...120,181,575
Ensembl chr 4:120,126,567...120,181,546 		JBrowse link
G Cnbp CCHC-type zinc finger, nucleic acid binding protein ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY ClinVar PMID:28492532 NCBI chr 4:120,302,768...120,311,694
Ensembl chr 4:120,302,771...120,311,637 		JBrowse link
G Col6a5 collagen type VI alpha 5 chain ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY ClinVar PMID:28492532 NCBI chr 8:106,483,806...106,584,114
Ensembl chr 8:106,483,799...106,584,113 		JBrowse link
G Col6a6 collagen type VI alpha 6 chain ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY ClinVar PMID:28492532 NCBI chr 8:106,318,010...106,473,419
Ensembl chr 8:106,306,422...106,473,472 		JBrowse link
G Copg1 COPI coat complex subunit gamma 1 ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY ClinVar PMID:28492532 NCBI chr 4:120,366,540...120,392,502
Ensembl chr 4:120,366,542...120,415,616 		JBrowse link
G Dnajb8 DnaJ heat shock protein family (Hsp40) member B8 ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY | ClinVar Annotator: match by term: Monocytopenia with susceptibility to infections ClinVar PMID:21670465 PMID:22147895 PMID:23223431 PMID:28492532 NCBI chr 4:120,681,918...120,685,108
Ensembl chr 4:120,681,926...120,687,552 		JBrowse link
G Eefsec eukaryotic elongation factor, selenocysteine-tRNA-specific ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY | ClinVar Annotator: match by term: Monocytopenia with susceptibility to infections ClinVar PMID:21670465 PMID:22147895 PMID:23223431 PMID:28492532 NCBI chr 4:120,719,616...120,915,779
Ensembl chr 4:120,707,133...120,915,779 		JBrowse link
G Efcab12 EF-hand calcium binding domain 12 ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY ClinVar PMID:28492532 NCBI chr 4:148,869,381...148,892,922
Ensembl chr 4:148,869,387...148,890,560 		JBrowse link
G Efcc1 EF-hand and coiled-coil domain containing 1 ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY ClinVar PMID:28492532 NCBI chr 4:120,188,202...120,223,464
Ensembl chr 4:120,188,470...120,217,516 		JBrowse link
G Gata2 GATA binding protein 2 susceptibility ISO ClinVar Annotator: match by term: COMBINED IMMUNODEFICIENCY WITH SUSCEPTIBILITY TO MYCOBACTERIAL, VIRAL, AND FUNGAL INFECTIONS | ClinVar Annotator: match by term: Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency | ClinVar Annotator: match by term: GATA2 DEFICIENCY | ClinVar Annotator: match by term: IMMUNODEFICIENCY 21 | ClinVar Annotator: match by term: MONOCYTOPENIA AND MYCOBACTERIAL INFECTION SYNDROME | ClinVar Annotator: match by term: MONOCYTOPENIA WITH SUSCEPTIBILITY TO MYCOBACTERIAL, FUNGAL, AND PAPILLOMAVIRUS INFECTIONS AND MYELODYSPLASIA | ClinVar Annotator: match by term: Monocytopenia with susceptibility to infections
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:453969 PMID:2543925 PMID:4508672 PMID:8701948 PMID:9536098 More... RGD:11049512 NCBI chr 4:120,654,205...120,667,763
Ensembl chr 4:120,658,986...120,667,761 		JBrowse link
G Gp9 glycoprotein IX (platelet) ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY ClinVar PMID:28492532 NCBI chr 4:120,235,500...120,237,110
Ensembl chr 4:120,235,421...120,237,110 		JBrowse link
G H1f10 H1.10 linker histone ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY ClinVar PMID:28492532 NCBI chr 4:120,440,515...120,441,578
Ensembl chr 4:120,440,870...120,441,448 		JBrowse link
G H1f8 H1.8 linker histone ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY ClinVar PMID:28492532 NCBI chr 4:148,993,133...148,998,254
Ensembl chr 4:148,993,133...148,998,254 		JBrowse link
G Hmces 5-hydroxymethylcytosine binding, ES cell specific ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY ClinVar PMID:28492532 NCBI chr 4:120,392,812...120,415,616
Ensembl chr 4:120,366,542...120,415,616 		JBrowse link
G Ift122 intraflagellar transport 122 ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY ClinVar PMID:28492532 NCBI chr 4:148,905,031...148,975,458
Ensembl chr 4:148,905,046...148,975,458 		JBrowse link
G Isy1 ISY1 splicing factor homolog ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY ClinVar PMID:28492532 NCBI chr 4:120,276,535...120,297,227
Ensembl chr 4:120,276,292...120,297,188 		JBrowse link
G Kbtbd12 kelch repeat and BTB domain containing 12 ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY ClinVar PMID:28492532 NCBI chr 4:121,014,636...121,088,701
Ensembl chr 4:121,016,257...121,088,443 		JBrowse link
G Mbd4 methyl-CpG binding domain 4 DNA glycosylase ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY ClinVar PMID:28492532 NCBI chr 4:148,893,049...148,904,833
Ensembl chr 4:148,894,280...148,904,982 		JBrowse link
G Mcm2 minichromosome maintenance complex component 2 ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY ClinVar PMID:28492532 NCBI chr 4:121,346,434...121,360,962
Ensembl chr 4:121,346,434...121,360,847 		JBrowse link
G Mgll monoglyceride lipase ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY ClinVar PMID:28492532 NCBI chr 4:121,192,186...121,294,187
Ensembl chr 4:121,192,195...121,294,179 		JBrowse link
G Pik3r4 phosphoinositide-3-kinase, regulatory subunit 4 ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY ClinVar PMID:28492532 NCBI chr 8:106,267,908...106,316,585
Ensembl chr 8:106,267,954...106,316,584 		JBrowse link
G Plxna1 plexin A1 ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY ClinVar PMID:28492532 NCBI chr 4:121,737,934...121,782,901
Ensembl chr 4:121,737,945...122,024,196 		JBrowse link
G Plxnd1 plexin D1 ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY ClinVar PMID:28492532 NCBI chr 4:149,002,786...149,043,097
Ensembl chr 4:149,002,784...149,043,244 		JBrowse link
G Podxl2 podocalyxin-like 2 ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY ClinVar PMID:28492532 NCBI chr 4:121,306,224...121,338,070
Ensembl chr 4:121,306,224...121,338,112 		JBrowse link
G Rab43 RAB43, member RAS oncogene family ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY ClinVar PMID:28492532 NCBI chr 4:120,249,650...120,269,174
Ensembl chr 4:120,249,879...120,269,174 		JBrowse link
G Rab7a RAB7A, member RAS oncogene family ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY | ClinVar Annotator: match by term: Monocytopenia with susceptibility to infections ClinVar PMID:22147895 PMID:23223431 PMID:28492532 NCBI chr 4:120,461,966...120,510,756
Ensembl chr 4:120,461,963...120,506,889 		JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY ClinVar PMID:28492532 NCBI chr 4:148,975,597...148,988,693
Ensembl chr 4:148,980,611...148,985,773 		JBrowse link
G Rpn1 ribophorin I ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY | ClinVar Annotator: match by term: Monocytopenia with susceptibility to infections ClinVar PMID:22147895 PMID:23223431 PMID:28492532 NCBI chr 4:120,543,667...120,565,069
Ensembl chr 4:120,543,667...120,565,069 		JBrowse link
G Ruvbl1 RuvB-like AAA ATPase 1 ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY | ClinVar Annotator: match by term: Monocytopenia with susceptibility to infections ClinVar PMID:21670465 PMID:22147895 PMID:23223431 PMID:28492532 NCBI chr 4:120,932,486...120,967,400
Ensembl chr 4:120,932,417...121,029,384 		JBrowse link
G Sec61a1 SEC61 translocon subunit alpha 1 ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY | ClinVar Annotator: match by term: Monocytopenia with susceptibility to infections ClinVar PMID:21670465 PMID:22147895 PMID:23223431 PMID:28492532 NCBI chr 4:120,973,519...120,987,871
Ensembl chr 4:120,960,626...120,987,925 		JBrowse link
G Tmcc1 transmembrane and coiled-coil domain family 1 ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY ClinVar PMID:28492532 NCBI chr 4:149,069,252...149,239,585
Ensembl chr 4:149,069,260...149,239,620 		JBrowse link
G Tpra1 transmembrane protein adipocyte associated 1 ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY ClinVar PMID:28492532 NCBI chr 4:121,364,093...121,375,275
Ensembl chr 4:121,364,091...121,375,269 		JBrowse link
G Trh thyrotropin releasing hormone ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY ClinVar PMID:28492532 NCBI chr 4:124,742,111...124,777,094
Ensembl chr 4:124,742,111...124,744,637 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    syndrome 10887
      primary immunodeficiency disease 4152
        immunodeficiency 21 36
Path 2
Term Annotations click to browse term
  disease 18976
    Developmental Disease 14397
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13406
        genetic disease 13024
          monogenic disease 10419
            autosomal genetic disease 9577
              autosomal dominant disease 6310
                immunodeficiency 21 36
paths to the root