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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 GATA2 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;   MONOCYTOPENIA AND MYCOBACTERIAL INFECTION SYNDROME;   MONOMAC;   dendritic cell, monocyte, B and NK lymphoid deficiency;   monocyte-B-natural killer-dendritic cell deficiency 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: OMIM:614172
 xref: GARD:10934;   NCI:C126349;   ORDO:228423
For additional species annotation, visit the Alliance of Genome Resources.



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 Acad9 acyl-CoA dehydrogenase family, member 9 ISO 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 Dnajb8 DnaJ heat shock protein family (Hsp40) member B8 ISO ClinVar Annotator: match by term: Monocytopenia with susceptibility to infections ClinVar 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: Monocytopenia with susceptibility to infections ClinVar PMID:28492532 NCBI chr 4:120,719,616...120,915,801
Ensembl chr 4:120,707,133...120,915,779
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: MONOCYTOPENIA WITH SUSCEPTIBILITY TO MYCOBACTERIAL, FUNGAL, AND PAPILLOMAVIRUS INFECTIONS AND MYELODYSPLASIA | ClinVar Annotator: match by term: Monocytopenia with susceptibility to infections OMIM
ClinVar
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 Rab7a RAB7A, member RAS oncogene family ISO 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 Rpn1 ribophorin I ISO 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: Monocytopenia with susceptibility to infections ClinVar 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: Monocytopenia with susceptibility to infections ClinVar PMID:28492532 NCBI chr 4:120,973,519...120,987,871
Ensembl chr 4:120,960,626...120,987,925
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    syndrome 9691
      primary immunodeficiency disease 3832
        immunodeficiency 21 8
Path 2
Term Annotations click to browse term
  disease 18145
    Developmental Disease 12907
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11612
        genetic disease 11118
          monogenic disease 8606
            autosomal genetic disease 7607
              autosomal dominant disease 5130
                immunodeficiency 21 8
paths to the root