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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 16
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Accession:DOID:0111935 term browser browse the term
Definition:A combined T cell and B cell immunodeficiency characterized by classic Kaposi sarcoma of childhood, poor T-cell recall immune responses, and decrease in the proportion of circulating memory B cells that has_material_basis_in homozygous or compound heterozygous mutation in TNFRSF4 on chromosome 1p36.33. (DO)
Synonyms:exact_synonym: IMD16;   OX40 deficiency;   combined immunodeficiency due to OX40 deficiency;   combined immunodeficiency with childhood-onset Kaposi sarcoma;   combined immunodeficiency with impaired immunity to HHV-8;   combined immunodeficiency with impaired immunity to human herpes virus 8
 primary_id: OMIM:615593
 xref: ORDO:431149
For additional species annotation, visit the Alliance of Genome Resources.


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immunodeficiency 16 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnfrsf4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Immunodeficiency 16 OMIM
ClinVar
PMID:23897980 PMID:28492532 NCBI chr 5:173,447,784...173,450,474
Ensembl chr 5:173,447,784...173,450,474
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    syndrome 7036
      primary immunodeficiency disease 2364
        combined immunodeficiency 147
          combined T cell and B cell immunodeficiency 55
            immunodeficiency 16 1
Path 2
Term Annotations click to browse term
  disease 16092
    Developmental Diseases 9588
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8436
        genetic disease 7958
          monogenic disease 5739
            autosomal genetic disease 4756
              autosomal recessive disease 2617
                immunodeficiency 16 1
paths to the root