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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 15A
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Accession:DOID:0111960 term browser browse the term
Definition:A combined T cell and B cell immunodeficiency characterized by immune dysregulation, combined T and B cell deficiency, inflammation, and epithelial defects that has_material_basis_in heterozygous missense mutation in IKBKB on chromosome 8p11.21. (DO)
Synonyms:exact_synonym: IMD15A
 primary_id: OMIM:618204
For additional species annotation, visit the Alliance of Genome Resources.


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immunodeficiency 15A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15A
ClinVar Annotator: match by term: Immunodeficiency 15a
OMIM
ClinVar
PMID:25741868 PMID:30337470 NCBI chr16:74,177,233...74,230,809
Ensembl chr16:74,177,215...74,230,815
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17150
    syndrome 8039
      primary immunodeficiency disease 2698
        IMMUNODEFICIENCY 15 17
          immunodeficiency 15A 1
Path 2
Term Annotations click to browse term
  disease 17150
    Developmental Disease 10920
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9451
        genetic disease 8954
          monogenic disease 7122
            autosomal genetic disease 6276
              autosomal dominant disease 4456
                immunodeficiency 15A 1
paths to the root