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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.


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immunodeficiency 21 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata2 GATA binding protein 2 ISO ClinVar Annotator: match by OMIM:614172
ClinVar Annotator: match by term: Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency
OMIM
ClinVar
PMID:2543925 PMID:20040766 PMID:21242295 PMID:21670465 PMID:21765025 PMID:21892162 PMID:22147895 PMID:22430350 PMID:22533337 PMID:22996659 PMID:23223431 PMID:23365458 PMID:24077845 PMID:25624456 PMID:25676417 PMID:25741868 PMID:28166811 PMID:28492532 PMID:29077208 PMID:31309983, PMID:21670465 RGD:11049512 NCBI chr 4:120,129,028...120,142,490
Ensembl chr 4:120,133,713...120,142,488
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    syndrome 7568
      primary immunodeficiency disease 2510
        immunodeficiency 21 1
Path 2
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          monogenic disease 6330
            autosomal genetic disease 5485
              autosomal dominant disease 3709
                immunodeficiency 21 1
paths to the root