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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 autoimmune lymphoproliferative syndrome that has_material_basis_in homozygous mutation in the PRKCD gene on chromosome 3p21. (DO)
Synonyms:exact_synonym: ALPS3;   autoimmune lymphoproliferative syndrome type III
 related_synonym: CVID9;   common variable immunodeficiency 9
 primary_id: OMIM:615559

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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:9536098 PMID:11976687 PMID:16199547 PMID:17576681 PMID:23319571 More... NCBI chrNW_004936473:3,892,625...3,923,467
Ensembl chrNW_004936473:3,892,366...3,923,515 		JBrowse link
G Rft1 RFT1 homolog ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type III ClinVar PMID:11976687 PMID:23319571 PMID:23430113 PMID:28492532 NCBI chrNW_004936473:3,807,895...3,856,760
Ensembl chrNW_004936473:3,814,112...3,856,792 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        genetic disease 16311
          autoimmune lymphoproliferative syndrome 59
            autoimmune lymphoproliferative syndrome type 3 2
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      Immune & Inflammatory Diseases 4721
        immune system disease 4107
          Immunoproliferative Disorders 945
            lymphoproliferative syndrome 938
              agammaglobulinemia 281
                common variable immunodeficiency 226
                  autoimmune lymphoproliferative syndrome type 3 2
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