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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: MIM:614172
 xref: GARD:10934;   NCI:C126349;   ORDO:228423


show annotations for term's descendants           Sort by:
immunodeficiency 21 term browser
Symbol Object Name 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 chr20:1,753,031...1,760,424
Ensembl chr20:1,751,718...1,760,419 		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 chr20:3,155,754...3,205,307
Ensembl chr20:3,021,167...3,205,279 		JBrowse link
G ATP2C1 ATPase secretory pathway Ca2+ transporting 1 ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY ClinVar PMID:28492532 NCBI chr23:28,097,831...28,233,675
Ensembl chr23:28,066,639...28,235,215 		JBrowse link
G CFAP92 cilia and flagella associated protein 92 (putative) ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY ClinVar PMID:28492532 NCBI chr20:3,096,859...3,157,896
Ensembl chr20:3,097,395...3,157,888 		JBrowse link
G CNBP CCHC-type zinc finger nucleic acid binding protein ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY ClinVar PMID:28492532 NCBI chr20:2,860,915...2,929,307
Ensembl chr20:2,916,624...2,929,303 		JBrowse link
G COL6A5 collagen type VI alpha 5 chain ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY ClinVar PMID:28492532 NCBI chr23:27,596,450...27,726,246
Ensembl chr23:27,596,395...27,721,265 		JBrowse link
G COL6A6 collagen type VI alpha 6 chain ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY ClinVar PMID:28492532 NCBI chr23:27,759,707...27,900,971
Ensembl chr23:27,759,103...27,900,154 		JBrowse link
G COPG1 COPI coat complex subunit gamma 1 ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY ClinVar PMID:28492532 NCBI chr20:2,832,150...2,860,356
Ensembl chr20:2,832,198...2,860,320 		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 chr20:2,453,100...2,454,152
Ensembl chr20:2,453,297...2,453,650 		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 chr20:2,138,475...2,405,420
Ensembl chr20:2,155,822...2,405,418 		JBrowse link
G EFCC1 EF-hand and coiled-coil domain containing 1 ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY ClinVar PMID:28492532 NCBI chr20:3,047,915...3,089,138
Ensembl chr20:3,049,673...3,087,023 		JBrowse link
G GATA2 GATA binding protein 2 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 ClinVar
OMIM		 PMID:453969 PMID:2543925 PMID:4508672 PMID:8701948 PMID:9536098 More... NCBI chr20:2,472,251...2,488,380
Ensembl chr20:2,473,912...2,480,991 		JBrowse link
G GP9 glycoprotein IX platelet ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY ClinVar PMID:28492532 NCBI chr20:3,027,790...3,029,496 JBrowse link
G H1-10 H1.10 linker histone ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY ClinVar PMID:28492532 NCBI chr20:2,799,360...2,800,524 JBrowse link
G H1-8 H1.8 linker histone ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY ClinVar PMID:28492532 NCBI chr20:5,614,822...5,619,136
Ensembl chr20:5,617,001...5,624,352 		JBrowse link
G HMCES 5-hydroxymethylcytosine binding, ES cell specific ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY ClinVar PMID:28492532 NCBI chr20:2,808,687...2,831,123
Ensembl chr20:2,808,689...2,830,462 		JBrowse link
G IFT122 intraflagellar transport 122 ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY ClinVar PMID:28492532 NCBI chr20:5,644,002...5,716,702
Ensembl chr20:5,644,089...5,715,906 		JBrowse link
G ISY1 ISY1 splicing factor homolog ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY ClinVar PMID:28492532 NCBI chr20:2,945,636...2,972,245
Ensembl chr20:2,945,720...2,972,245 		JBrowse link
G KBTBD12 kelch repeat and BTB domain containing 12 ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY ClinVar PMID:28492532 NCBI chr20:1,955,638...2,034,355
Ensembl chr20:1,964,607...2,032,036 		JBrowse link
G MBD4 methyl-CpG binding domain 4, DNA glycosylase ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY ClinVar PMID:28492532 NCBI chr20:5,716,162...5,725,068
Ensembl chr20:5,716,239...5,724,881 		JBrowse link
G MCM2 minichromosome maintenance complex component 2 ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY ClinVar PMID:28492532 NCBI chr20:1,682,928...1,702,689
Ensembl chr20:1,682,886...1,702,366 		JBrowse link
G MGLL monoglyceride lipase ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY ClinVar PMID:28492532 NCBI chr20:1,765,650...1,880,710
Ensembl chr20:1,766,216...1,943,588 		JBrowse link
G PIK3R4 phosphoinositide-3-kinase regulatory subunit 4 ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY ClinVar PMID:28492532 NCBI chr23:27,902,500...27,973,609
Ensembl chr23:27,902,840...27,971,892 		JBrowse link
G PLXNA1 plexin A1 ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY ClinVar PMID:28492532 NCBI chr20:1,143,072...1,186,623
Ensembl chr20:870,870...1,184,321 		JBrowse link
G PLXND1 plexin D1 ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY ClinVar PMID:28492532 NCBI chr20:5,554,814...5,610,417
Ensembl chr20:5,554,708...5,610,122 		JBrowse link
G PODXL2 podocalyxin like 2 ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY ClinVar PMID:28492532 NCBI chr20:1,716,672...1,752,872
Ensembl chr20:1,716,666...1,760,035 		JBrowse link
G RAB43 RAB43, member RAS oncogene family ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY ClinVar PMID:28492532 NCBI chr20:2,979,094...3,020,496
Ensembl chr20:2,978,727...3,011,715 		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 chr20:2,704,716...2,776,518
Ensembl chr20:2,704,752...2,826,636 		JBrowse link
G RHO rhodopsin ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY ClinVar PMID:28492532 NCBI chr20:5,630,735...5,638,906 JBrowse link
G RPL32 ribosomal protein L32 ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY ClinVar PMID:28492532 NCBI chr20:5,727,201...5,756,190
Ensembl chr20:5,727,377...5,748,468
Ensembl chr20:5,727,377...5,748,468 		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 chr20:2,611,316...2,640,047
Ensembl chr20:2,611,551...2,639,983 		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 chr20:2,095,807...2,137,528
Ensembl chr20:2,095,786...2,137,579 		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 chr20:2,070,739...2,087,790
Ensembl chr20:2,070,248...2,087,789 		JBrowse link
G TMCC1 transmembrane and coiled-coil domain family 1 ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY ClinVar PMID:28492532 NCBI chr20:5,352,304...5,525,798
Ensembl chr20:5,348,446...5,545,546 		JBrowse link
G TPRA1 transmembrane protein adipocyte associated 1 ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY ClinVar PMID:28492532 NCBI chr20:1,661,980...1,680,111
Ensembl chr20:1,653,855...1,671,666 		JBrowse link
G TRH thyrotropin releasing hormone ISO ClinVar Annotator: match by term: GATA2 DEFICIENCY ClinVar PMID:28492532 NCBI chr20:5,219,495...5,222,914
Ensembl chr20:5,219,594...5,222,866 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15726
    syndrome 10497
      primary immunodeficiency disease 4018
        immunodeficiency 21 36
Path 2
Term Annotations click to browse term
  disease 15726
    Developmental Disease 13697
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12739
        genetic disease 12433
          monogenic disease 10625
            autosomal genetic disease 10157
              autosomal dominant disease 6590
                immunodeficiency 21 36
paths to the root