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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 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;   autoimmune lymphoproliferative syndrome type 2B (ALPS2B);   autoimmune lymphoproliferative syndrome with recurrent viral infections;   autoimmune lymphoproliferative syndrome, type IIB;   caspase 8 deficiencies;   caspase 8 deficiency;   caspase 8 deficiency syndrome;   caspase eight deficiency state
 xref: MIM:607271;   MONDO:0011804;   ORDO:275517


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autoimmune lymphoproliferative syndrome type 2B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abi2 abl-interactor 2 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:69,321,072...69,490,630
Ensembl chr 9:69,321,150...69,490,597 		JBrowse link
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:68,107,310...68,180,192
Ensembl chr 9:68,107,528...68,179,660 		JBrowse link
G Bmpr2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:68,685,942...68,801,353
Ensembl chr 9:68,685,988...68,801,350 		JBrowse link
G C2cd6 C2 calcium dependent domain containing 6 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:67,929,069...68,024,993
Ensembl chr 9:67,929,082...68,024,960 		JBrowse link
G Carf calcium responsive transcription factor ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:68,996,419...69,046,480
Ensembl chr 9:68,996,250...69,046,479 		JBrowse link
G Casp8 caspase 8 ISO
ISS 		ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B
OMIM:607271 		OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:11343122 PMID:12353035 PMID:12577056 PMID:15601643 More... NCBI chr 9:67,747,109...67,806,699
Ensembl chr 9:67,758,033...67,806,699 		JBrowse link
G Cd28 Cd28 molecule ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:69,660,316...69,689,192
Ensembl chr 9:69,545,326...69,689,192 		JBrowse link
G Cdk15 cyclin-dependent kinase 15 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:68,205,759...68,299,218
Ensembl chr 9:68,205,678...68,293,579 		JBrowse link
G Cflar CASP8 and FADD-like apoptosis regulator ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:67,679,502...67,747,226
Ensembl chr 9:67,679,559...67,726,434 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:69,813,265...69,819,973 		JBrowse link
G Cyp20a1 cytochrome P450, family 20, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:69,249,841...69,299,146
Ensembl chr 9:69,249,844...69,299,291 		JBrowse link
G Fam117b family with sequence similarity 117, member B ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:68,834,334...68,902,543
Ensembl chr 9:68,834,354...68,902,543 		JBrowse link
G Flacc1 flagellum associated containing coiled-coil domains 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:67,809,731...67,837,793
Ensembl chr 9:67,809,739...67,837,793 		JBrowse link
G Fzd7 frizzled class receptor 7 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:68,425,538...68,428,357
Ensembl chr 9:68,411,259...68,432,585 		JBrowse link
G Ica1l islet cell autoantigen 1-like ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:68,906,148...68,964,078
Ensembl chr 9:68,906,148...68,963,692 		JBrowse link
G Icos inducible T-cell co-stimulator ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:69,862,042...69,900,864
Ensembl chr 9:69,877,785...69,900,960 		JBrowse link
G Mpp4 MAGUK p55 scaffold protein 4 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:68,063,867...68,103,050
Ensembl chr 9:68,063,867...68,106,128 		JBrowse link
G Nbeal1 neurobeachin-like 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:69,069,326...69,237,932
Ensembl chr 9:69,070,247...69,231,307 		JBrowse link
G Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:67,623,417...67,633,629
Ensembl chr 9:67,623,614...67,633,613 		JBrowse link
G Nop58 NOP58 ribonucleoprotein ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:68,614,992...68,638,911
Ensembl chr 9:68,615,010...68,638,909 		JBrowse link
G Raph1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:69,397,272...69,484,174
Ensembl chr 9:69,401,517...69,484,019 		JBrowse link
G Stradb STE20 related adaptor beta ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:67,908,277...67,927,224
Ensembl chr 9:67,908,309...67,927,222 		JBrowse link
G Sumo1 small ubiquitin-like modifier 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:68,572,901...68,602,803
Ensembl chr 9:68,572,911...68,602,890 		JBrowse link
G Tmem237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:68,027,481...68,066,731
Ensembl chr 9:68,030,664...68,063,525 		JBrowse link
G Trak2 trafficking kinesin protein 2 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:67,842,680...67,909,786
Ensembl chr 9:67,842,683...67,908,158 		JBrowse link
G Wdr12 WD repeat domain 12 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:68,969,547...68,996,811
Ensembl chr 9:68,969,547...68,996,811 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19154
    syndrome 11394
      primary immunodeficiency disease 4489
        lymphoproliferative syndrome 1137
          autoimmune lymphoproliferative syndrome 72
            autoimmune lymphoproliferative syndrome type 2B 26
Path 2
Term Annotations click to browse term
  disease 19154
    disease of anatomical entity 18461
      Immune & Inflammatory Diseases 5769
        immune system disease 5082
          primary immunodeficiency disease 4489
            lymphoproliferative syndrome 1137
              autoimmune lymphoproliferative syndrome 72
                autoimmune lymphoproliferative syndrome type 2B 26
paths to the root