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autoimmune lymphoproliferative syndrome type 3 - Ontology Report - Rat Genome Database

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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: MIM: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_004955430:3,125,066...3,151,857
Ensembl chrNW_004955430:3,124,738...3,153,274
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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_004955430:3,055,766...3,096,501
Ensembl chrNW_004955430:3,052,368...3,096,726
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14322
    Developmental Disease 12581
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11808
        genetic disease 11534
          autoimmune lymphoproliferative syndrome 68
            autoimmune lymphoproliferative syndrome type 3 2
Path 2
Term Annotations click to browse term
  disease 14322
    disease of anatomical entity 14029
      Immune & Inflammatory Diseases 4829
        immune system disease 4290
          Immunoproliferative Disorders 1004
            lymphoproliferative syndrome 997
              agammaglobulinemia 330
                common variable immunodeficiency 220
                  autoimmune lymphoproliferative syndrome type 3 2
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