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ONTOLOGY REPORT - ANNOTATIONS


Term:autoimmune lymphoproliferative syndrome type 2B
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Accession:DOID:0110116 term browser browse the term
Definition:An autoimmune lymphoproliferative syndrome that has_material_basis_in homozygous mutation in the CASP8 gene on chromosome 2q33. (DO)
Synonyms:exact_synonym: ALPS with recurrent viral infections;   ALPS2B;   CEDS;   Caspase 8 deficiency syndrome;   Caspase eight deficiency state;   autoimmune lymphoproliferative syndrome type 2B (ALPS2B);   autoimmune lymphoproliferative syndrome with recurrent viral infections;   autoimmune lymphoproliferative syndrome, type IIB;   caspase 8 deficiencies;   caspase 8 deficiency
 primary_id: OMIM:607271
 alt_id: RDO:9004333
 xref: ORDO:275517
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autoimmune lymphoproliferative syndrome type 2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Casp8 caspase 8 JBrowse link 9 65,614,142 65,662,624 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 15599
    syndrome 5135
      primary immunodeficiency disease 954
        lymphoproliferative syndrome 602
          autoimmune lymphoproliferative syndrome 9
            autoimmune lymphoproliferative syndrome type 2B 1
Path 2
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 14927
      Immune & Inflammatory Diseases 3091
        immune system disease 2518
          hypersensitivity reaction disease 1489
            hypersensitivity reaction type IV disease 74
              autoimmune lymphoproliferative syndrome 9
                autoimmune lymphoproliferative syndrome type 2B 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.