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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:autoimmune lymphoproliferative syndrome type 3
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Accession:DOID:0110119 term browser browse the term
Definition:An autosomal recessive disorder of immune dysregulation. (OMIM)
Synonyms:exact_synonym: ALPS3;   CVID9;   autoimmune lymphoproliferative syndrome type III;   common variable immunodeficiency 9
 primary_id: OMIM:615559
 alt_id: RDO:9001351
 xref: ICD10CM:D47.9
For additional species annotation, visit the Alliance of Genome Resources.


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autoimmune lymphoproliferative syndrome type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkcd protein kinase C, delta ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type III OMIM
ClinVar
PMID:11976687 PMID:23319571 PMID:23430113 PMID:23666743 PMID:25741868 PMID:28492532 PMID:30257684 NCBI chr16:6,655,131...6,675,746
Ensembl chr16:6,655,120...6,675,746
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      primary immunodeficiency disease 2364
        autoimmune disease 1683
          autoimmune lymphoproliferative syndrome 20
            autoimmune lymphoproliferative syndrome type 3 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      Immune & Inflammatory Diseases 3578
        immune system disease 2948
          primary immunodeficiency disease 2364
            B cell deficiency 89
              agammaglobulinemia 63
                common variable immunodeficiency 48
                  autoimmune lymphoproliferative syndrome type 3 1
paths to the root