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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 40
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Accession:DOID:0111951 term browser browse the term
Definition:A combined T cell and B cell immunodeficiency characterized by reduced T-cell number and function, with variable defects in B-cell and NK-cell function resulting in onset in early childhood of invasive bacterial and viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK2 gene on chromosome 5q35.1. (DO)
Synonyms:exact_synonym: DOCK2 deficiency;   IMD40
 primary_id: OMIM:616433
 xref: GARD:12653;   NCI:C176799;   ORDO:447737


show annotations for term's descendants           Sort by:
immunodeficiency 40 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C10h5orf58 similar to human chromosome 5 open reading frame 58 ISO ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:26083206 PMID:28492532 NCBI chr10:18,690,958...18,697,224
Ensembl chr10:18,688,847...18,697,220 		JBrowse link
G Dock2 dedicator of cytokinesis 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DOCK2 deficiency | ClinVar Annotator: match by term: Immunodeficiency 40		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:26083206 More... NCBI chr10:18,827,237...19,244,832
Ensembl chr10:18,827,239...19,244,808 		JBrowse link
G Foxi1 forkhead box I1 ISO ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:26083206 PMID:28492532 NCBI chr10:18,806,292...18,810,231
Ensembl chr10:18,806,308...18,810,231 		JBrowse link
G Insyn2b inhibitory synaptic factor family member 2B ISO ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:25741868 PMID:26083206 PMID:28492532 NCBI chr10:18,916,721...19,023,859
Ensembl chr10:19,003,131...19,022,139 		JBrowse link
G Mir103a1 microRNA 103a-1 ISO ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:26083206 PMID:28492532 NCBI chr10:20,244,412...20,244,497
Ensembl chr10:20,244,412...20,244,497 		JBrowse link
G Pank3 pantothenate kinase 3 ISO ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:26083206 PMID:28492532 NCBI chr10:20,229,129...20,252,955
Ensembl chr10:20,229,129...20,252,955 		JBrowse link
G Rars1 arginyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:26083206 PMID:28492532 NCBI chr10:20,270,744...20,295,192
Ensembl chr10:20,270,483...20,295,196 		JBrowse link
G Slit3 slit guidance ligand 3 ISO ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:26083206 PMID:28492532 NCBI chr10:19,571,798...20,156,634
Ensembl chr10:19,571,684...20,156,634 		JBrowse link
G Spdl1 spindle apparatus coiled-coil protein 1 ISO ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:26083206 PMID:28492532 NCBI chr10:19,269,125...19,294,213
Ensembl chr10:19,269,127...19,294,127 		JBrowse link
G Wwc1 WW and C2 domain containing 1 ISO ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:26083206 PMID:28492532 NCBI chr10:20,300,735...20,454,393
Ensembl chr10:20,300,833...20,454,497 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10886
      primary immunodeficiency disease 4152
        combined immunodeficiency 896
          combined T cell and B cell immunodeficiency 337
            immunodeficiency 40 10
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14398
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13415
        genetic disease 13034
          monogenic disease 10418
            autosomal genetic disease 9576
              autosomal recessive disease 6655
                immunodeficiency 40 10
paths to the root