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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:selective IgA deficiency disease
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Accession:DOID:11701 term browser browse the term
Definition:A selective immunoglobulin deficiency disease that is the result of a deficiency of immunoglobulin A (IgA), an antibody that protects against infections of the mucous membranes lining the mouth, airways, and digestive tract. (DO)
Synonyms:exact_synonym: Gamma-a-globulin, selective deficiency of;   IGAD1;   Iga, selective deficiency of;   Immunoglobulin A Deficiency 1;   Immunoglobulin A deficiency;   Immunoglobulin a, selective deficiency of;   selective IgA immunodeficiency;   selective immunoglobulin A deficiency
 primary_id: MESH:C536290
 alt_id: MIM:137100
 xref: EFO:1001929;   NCI:C123434;   NCI:C26964
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
selective IgA deficiency disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnfrsf13b TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: IgAD1 ClinVar PMID:17697196 PMID:18200502 PMID:18981294 PMID:21419480 PMID:21458042 More... NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19100
    syndrome 11271
      primary immunodeficiency disease 4421
        B cell deficiency 440
          immunoglobulin alpha deficiency 8
            selective IgA deficiency disease 1
Path 2
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      Immune & Inflammatory Diseases 5757
        immune system disease 5038
          primary immunodeficiency disease 4421
            B cell deficiency 440
              selective immunoglobulin deficiency disease 71
                dysgammaglobulinemia 71
                  immunoglobulin alpha deficiency 8
                    selective IgA deficiency disease 1
paths to the root