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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 DOCK2 on chromosome 5q35.1. (DO)
Synonyms:exact_synonym: DOCK2 deficiency;   IMD40
 primary_id: OMIM:616433
 xref: GARD:12653;   ORDO:447737
For additional species annotation, visit the Alliance of Genome Resources.


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immunodeficiency 40 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dock2 dedicator of cytokinesis 2 ISO ClinVar Annotator: match by term: Immunodeficiency 40 ClinVar
OMIM
PMID:25741868, PMID:26083206, PMID:28492532, PMID:29204803 NCBI chr10:19,181,512...19,603,171 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      primary immunodeficiency disease 2344
        combined immunodeficiency 147
          combined T cell and B cell immunodeficiency 55
            immunodeficiency 40 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          monogenic disease 5714
            autosomal genetic disease 4732
              autosomal recessive disease 2601
                immunodeficiency 40 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.