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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:diffuse large B-cell lymphoma
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Accession:DOID:0050745 term browser browse the term
Definition:A B-cell lymphoma that is a cancer of B cells presenting as an aggressive tumour which can arise in virtually any part of the body. (DO)
Synonyms:exact_synonym: DLBCL;   diffuse histiocytic lymphoma;   diffuse histiocytic lymphomas;   diffuse large cell lymphoma;   diffuse large lymphoid lymphoma;   diffuse large-cell lymphomas;   histiocytic lymphoma;   histiocytic lymphomas
 narrow_synonym: Breast Diffuse Large B-Cell Lymphoma;   Colorectal Diffuse Large B-Cell Lymphoma;   PCLBCL;   Primary Pulmonary Diffuse Large B-Cell Lymphoma;   Small Intestinal Diffuse Large B-Cell Lymphoma;   Thyroid Gland Diffuse Large B-Cell Lymphoma;   primary cutaneous large B-cell lymphoma
 primary_id: MESH:D016403
 xref: EFO:0000403;   EFO:1000144;   EFO:1000191;   EFO:1000495;   EFO:1000534;   EFO:1000547;   EFO:1000587;   GARD:3178;   NCI:C45605;   NCI:C80280;   NCI:C8851



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diffuse large B-cell lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21325069 NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
JBrowse link
G Abcg2 ATP binding cassette subfamily G member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21625222 NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
JBrowse link
G Alk ALK receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22474449 NCBI chr 6:22,879,653...23,599,636
Ensembl chr 6:22,880,625...23,598,034
JBrowse link
G B2m beta-2 microglobulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:7688627 NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
JBrowse link
G Bcas2 BCAS2, pre-mRNA processing factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356265 NCBI chr 2:190,692,503...190,700,386
Ensembl chr 2:190,692,461...190,700,389
JBrowse link
G Bcl2 BCL2, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743
JBrowse link
G Bcl2l2 Bcl2-like 2 disease_progression ISO RGD PMID:28094768 RGD:14394511 NCBI chr15:28,346,449...28,361,627
Ensembl chr15:28,356,807...28,361,624
JBrowse link
G Bcl6 BCL6, transcription repressor disease_progression ISO diffuse large B-cell lymphoma RGD PMID:11821949 PMID:15701085 RGD:1600111, RGD:11530023 NCBI chr11:76,854,090...76,877,389
Ensembl chr11:76,854,090...76,877,389
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
JBrowse link
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:9150172 PMID:18489799 PMID:20104584 PMID:21138478 PMID:22798144 More... NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
JBrowse link
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:24869598 PMID:25082755 PMID:25189416 PMID:25741868 PMID:27199251 More... NCBI chr  X:97,722,796...97,762,315
Ensembl chr  X:97,722,802...97,761,853
JBrowse link
G Card11 caspase recruitment domain family, member 11 ISO DNA:missense mutations:exons:multiple (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:25049379 PMID:26192916 PMID:18323416 RGD:11100036 NCBI chr12:13,621,140...13,758,115
Ensembl chr12:13,621,087...13,758,112
JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
JBrowse link
G Ccdc86 coiled-coil domain containing 86 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23828858 NCBI chr 1:207,590,167...207,596,547
Ensembl chr 1:207,590,168...207,596,544
JBrowse link
G Cd22 CD22 molecule treatment ISO RGD PMID:25708834 RGD:151665133 NCBI chr 1:86,116,376...86,132,782
Ensembl chr 1:86,117,459...86,132,322
JBrowse link
G Cd40 CD40 molecule susceptibility ISO DNA:SNP:5' utr:c.-1C>T (rs1883832) (human) RGD PMID:20473910 RGD:5490541 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
JBrowse link
G Cd79a CD79a molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:25049379 NCBI chr 1:80,493,581...80,497,936
Ensembl chr 1:80,493,581...80,497,935
JBrowse link
G Cd79b CD79b molecule treatment
severity
ISO CTD Direct Evidence: marker/mechanism
DNA:mutation:multiple (human)
DNA:missense mutation:multiple, exon 5-6 (human)
DNA:missense mutation:multiple, exon 5 (human)
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
CTD
ClinVar
RGD
PMID:11160144 PMID:21173233 PMID:31402495 PMID:28803429 PMID:25708834 More... RGD:151665120, RGD:151665133, RGD:11075852, RGD:151665203 NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625
JBrowse link
G Cdk1 cyclin-dependent kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19223503 NCBI chr20:19,266,226...19,281,417
Ensembl chr20:19,266,248...19,281,408
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21325069 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:16199547 PMID:21876083 PMID:24713400 PMID:28492532 NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286
JBrowse link
G Cltc clathrin heavy chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:22474449 NCBI chr10:71,517,661...71,574,591
Ensembl chr10:71,517,663...71,573,737
JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:24755471 PMID:28481359 PMID:30239046 PMID:33323405 NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
JBrowse link
G Dicer1 dicer 1 ribonuclease III disease_progression ISO RGD PMID:25195038 RGD:149735347 NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965
JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:25363760 PMID:25741868 PMID:29900417 PMID:30478443 PMID:32581362 More... NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
JBrowse link
G Etv6 ETS variant transcription factor 6 ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:35053500 NCBI chr 4:166,849,031...167,085,211
Ensembl chr 4:166,847,686...167,084,992
JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:20081860 PMID:28438623 RGD:126779596 NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
JBrowse link
G Fas Fas cell surface death receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Fcgr2a Fc gamma receptor 2A disease_progression ISO DNA:SNP: :rs1801274 (human) RGD PMID:27282998 RGD:11344967 NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
JBrowse link
G Foxo1 forkhead box O1 ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:26314988 PMID:29721381 PMID:35079069 NCBI chr 2:136,312,168...136,390,603
Ensembl chr 2:136,312,168...136,387,790
JBrowse link
G Gli1 GLI family zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21625222 NCBI chr 7:63,156,926...63,169,579
Ensembl chr 7:63,156,926...63,169,251
JBrowse link
G Gstm1 glutathione S-transferase mu 1 treatment ISO RGD PMID:20303013 RGD:10450835 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:SNP: :(rs1695)(human) RGD PMID:19338043 RGD:8547939 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
JBrowse link
G Gstt1 glutathione S-transferase theta 1 severity ISO DNA:deletion:cds: RGD PMID:20303013 RGD:10450835 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
JBrowse link
G Icam1 intercellular adhesion molecule 1 disease_progression ISO proteion:increased expression:serum: RGD PMID:12598355 RGD:11354982 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Il21r interleukin 21 receptor ISO diffuse large B-cell lymphoma RGD PMID:11821949 RGD:1600111 NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522
JBrowse link
G Immp2l inner mitochondrial membrane peptidase subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356265 NCBI chr 6:58,070,035...58,970,165
Ensembl chr 6:58,070,283...58,969,840
JBrowse link
G Irf4 interferon regulatory factor 4 disease_progression ISO RGD PMID:15701085 RGD:11530023 NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070
JBrowse link
G Kmt2d lysine methyltransferase 2D ISO CTD Direct Evidence: marker/mechanism CTD PMID:21804550 NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
JBrowse link
G Malt1 MALT1 paracaspase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21173233 NCBI chr18:58,942,282...58,996,318
Ensembl chr18:58,942,299...58,994,260
JBrowse link
G Mki67 marker of proliferation Ki-67 disease_progression ISO RGD PMID:20919850 RGD:6483541 NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:transition, transversion, haplotype:cds:g.677C>T, g.1298A>C (human) RGD PMID:17712558 RGD:6893517 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356265 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor severity ISO CTD Direct Evidence: marker/mechanism
DNA:mutation:L265P, L265S (human)
DNA:missense mutation:L265P (human)
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
CTD
ClinVar
RGD
PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:25049379 More... RGD:151665120, RGD:11075852, RGD:151665203 NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
JBrowse link
G Nbn nibrin ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:9590180 PMID:16415040 PMID:28492532 NCBI chr 5:29,459,574...29,494,152
Ensembl chr 5:29,459,457...29,494,150
JBrowse link
G Nectin2 nectin cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356265 NCBI chr 1:79,372,123...79,407,379
Ensembl chr 1:79,372,119...79,407,360
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:21390130 PMID:22158541 PMID:23292937 NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
JBrowse link
G Nfkbia NFKB inhibitor alpha no_association ISO RGD PMID:15198731 RGD:2298905 NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
JBrowse link
G Nom1 nucleolar protein with MIF4G domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22474449 NCBI chr 4:5,891,220...5,910,741
Ensembl chr 4:5,892,909...5,909,709
JBrowse link
G Pdpk1 3-phosphoinositide dependent protein kinase-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21173233 NCBI chr10:13,105,435...13,182,664
Ensembl chr10:13,105,498...13,174,623
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21173233 NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
JBrowse link
G Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21173233 NCBI chr 8:99,594,600...99,699,772
Ensembl chr 8:99,594,644...99,699,663
JBrowse link
G Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21173233 NCBI chr 5:160,094,952...160,142,962
Ensembl chr 5:160,094,952...160,120,930
JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21173233 NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043
JBrowse link
G Pms2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar NCBI chr12:10,676,818...10,701,161
Ensembl chr12:10,676,764...10,701,066
JBrowse link
G Prdm1 PR/SET domain 1 disease_progression ISO RGD PMID:22321048 RGD:150530470 NCBI chr20:47,959,858...47,981,488
Ensembl chr20:47,959,858...47,981,488
JBrowse link
G Prdx3 peroxiredoxin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chr 1:260,001,642...260,014,064
Ensembl chr 1:260,001,637...260,014,111
JBrowse link
G Prdx4 peroxiredoxin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chr  X:40,026,762...40,044,066
Ensembl chr  X:40,026,651...40,044,066
JBrowse link
G Prmt5 protein arginine methyltransferase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31123343 NCBI chr15:27,968,893...27,978,291
Ensembl chr15:27,968,910...27,978,296
JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:10468583 PMID:10555148 PMID:10698513 PMID:10866302 PMID:10866658 More... NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Rangap1 RAN GTPase activating protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27150054 NCBI chr 7:113,224,695...113,250,441
Ensembl chr 7:113,224,703...113,250,438
JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19223503 NCBI chr10:71,323,777...71,367,908
Ensembl chr10:71,323,777...71,367,908
JBrowse link
G Sec31a SEC31 homolog A, COPII coat complex component ISO CTD Direct Evidence: marker/mechanism CTD PMID:22474449 NCBI chr14:9,214,324...9,269,281
Ensembl chr14:9,214,349...9,269,273
JBrowse link
G Sf3a1 splicing factor 3A subunit 1 ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:22037554 PMID:26498691 PMID:33563892 NCBI chr14:79,031,394...79,052,144
Ensembl chr14:79,031,394...79,052,144
JBrowse link
G Skp2 S-phase kinase associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18850583 NCBI chr 2:58,161,226...58,189,293
Ensembl chr 2:58,161,229...58,189,338
JBrowse link
G Smurf2 SMAD specific E3 ubiquitin protein ligase 2 ISS MouseDO NCBI chr10:91,761,798...91,862,485
Ensembl chr10:91,761,807...91,862,488
JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:19734449 PMID:23296022 PMID:26336985 PMID:28302137 PMID:29625055 NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Sod3 superoxide dismutase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:21690253 PMID:22591296 PMID:22859607 PMID:23926297 PMID:25873174 More... NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
JBrowse link
G Syk spleen associated tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:33782605 NCBI chr17:12,604,615...12,678,437
Ensembl chr17:12,604,619...12,661,410
JBrowse link
G Tbl1xr1 TBL1X/Y related 1 ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:9450851 PMID:16492805 PMID:21156281 PMID:21156282 PMID:25741868 More... NCBI chr 2:104,788,950...104,929,055
Ensembl chr 2:104,801,721...104,929,055
JBrowse link
G Tp53 tumor protein p53 ISS
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma MouseDO
ClinVar
PMID:1631137 PMID:1978757 PMID:8062826 PMID:8099841 PMID:8425176 More... NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Txnip thioredoxin interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chr 2:184,093,079...184,096,882
Ensembl chr 2:184,092,991...184,096,886
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      hematopoietic system disease 3344
        leukocyte disease 1308
          B-cell lymphoma 347
            diffuse large B-cell lymphoma 74
              A53 diffuse large B-cell lymphoma 0
              BN2 diffuse large B-cell lymphoma 0
              EZB diffuse large B-cell lymphoma + 0
              Gastric Diffuse Large B-Cell Lymphoma 0
              MCD diffuse large B-cell lymphoma 0
              N1 diffuse large B-cell lymphoma 0
              ST2 diffuse large B-cell lymphoma 0
              diffuse large B-cell lymphoma activated B-cell type 0
              diffuse large B-cell lymphoma germinal center B-cell type 0
              plasmablastic lymphoma 0
              primary diffuse large B-cell lymphoma of the central nervous system 0
              primary mediastinal B-cell lymphoma 0
              relapsed/refractory diffuse large B-cell lymphoma 0
Path 2
Term Annotations click to browse term
  disease 21128
    disease of cellular proliferation 7667
      cancer 5483
        organ system cancer 5237
          immune system cancer 663
            lymphatic system cancer 663
              lymphoma 575
                non-Hodgkin lymphoma 486
                  B-cell lymphoma 347
                    diffuse large B-cell lymphoma 74
                      A53 diffuse large B-cell lymphoma 0
                      BN2 diffuse large B-cell lymphoma 0
                      EZB diffuse large B-cell lymphoma + 0
                      Gastric Diffuse Large B-Cell Lymphoma 0
                      MCD diffuse large B-cell lymphoma 0
                      N1 diffuse large B-cell lymphoma 0
                      ST2 diffuse large B-cell lymphoma 0
                      diffuse large B-cell lymphoma activated B-cell type 0
                      diffuse large B-cell lymphoma germinal center B-cell type 0
                      plasmablastic lymphoma 0
                      primary diffuse large B-cell lymphoma of the central nervous system 0
                      primary mediastinal B-cell lymphoma 0
                      relapsed/refractory diffuse large B-cell lymphoma 0
paths to the root