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RGD uses the Human Disease Ontology (DO, 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 64
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Accession:DOID:0111980 term browser browse the term
Definition:A T cell, B cell, and NK cell deficiency characterized by variably decreased numbers of T cells, lesser deficiencies of B and NK cells, decreased phosphorylation of the extracellular-signal-regulated serine kinase ERK in T and B cells, and onset in early childhood of recurrent bacterial, viral, and fungal infections that has_material_basis_in homozygous or compound heterozygous mutation in RASGRP1 on chromosome 15q14. (DO)
Synonyms:exact_synonym: IMD64
 primary_id: OMIM:618534
For additional species annotation, visit the Alliance of Genome Resources.

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immunodeficiency 64 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rasgrp1 RAS guanyl releasing protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 64 OMIM
PMID:25741868 PMID:27776107 PMID:28492532 PMID:28822832 PMID:29155103 More... NCBI chr 3:104,168,549...104,230,107
Ensembl chr 3:104,170,013...104,230,056
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    syndrome 9456
      primary immunodeficiency disease 3718
        combined immunodeficiency 712
          T cell, B cell, and NK cell deficiency 1
            immunodeficiency 64 1
Path 2
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        genetic disease 10994
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal recessive disease 4575
                immunodeficiency 64 1
paths to the root