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: Hodgkin's lymphoma
Accession: DOID:8567
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Definition: A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell. (DO)
Synonyms: exact_synonym: CHL; HL; Hodgkin disease; Hodgkin lymphoma; Hodgkin's Disease; Hodgkin's sarcoma; Hodgkins Disease; Hodgkins Lymphoma; LYMPHOMA, HODGKIN, CLASSIC; Lymphocyte Depletion Hodgkin's Lymphoma; Lymphocyte Rich Classical Hodgkin's Lymphoma; Malignant Granuloma; Malignant Granulomas; malignant lymphogranuloma; malignant lymphogranulomas; nodular lymphocyte predominant Hodgkin's lymphoma; nodular sclerosing Hodgkin's lymphoma
narrow_synonym: Splenic Hodgkin Lymphoma; adult Hodgkin lymphoma; classical Hodgkin's lymphoma; stage I subdiaphragmatic Hodgkin lymphoma; stage II subdiaphragmatic Hodgkin lymphoma
broad_synonym: KLHDC8B-related condition
xref: EFO:0000183 ; EFO:0000346 ; EFO:1000548 ; GARD:2714 ; ICD10CM:C81 ; ICD9CM:201 ; MESH:D006689 ; MIM:236000 ; MONDO:0004952 ; NCI:C9357 ; ORDO:98293
For additional species annotation, visit the
Alliance of Genome Resources .
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Cd40
CD40 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7621881
NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:174,209,719...174,224,847
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Cd40lg
CD40 ligand
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7621881 PMID:8656679
NCBI chr X:140,164,341...140,176,057
Ensembl chr X:140,164,302...140,176,475
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Cd68
Cd68 molecule
severity
ISO
associated with Epstein-Barr Virus Infections;protein:increased expression:tumor(human) protein:increased expression:tumor (human)
RGD
PMID:21071500 PMID:23045593
RGD:40925944 , RGD:40925946
NCBI chr10:54,880,562...54,882,441
Ensembl chr10:54,880,563...54,882,540
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Cflar
CASP8 and FADD-like apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17659339
NCBI chr 9:67,679,502...67,747,226
Ensembl chr 9:67,679,559...67,726,434
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Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17562247
NCBI chr10:84,157,485...84,159,860
Ensembl chr10:84,157,211...84,159,860
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Fgfr3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: Classic Hodgkin lymphoma
ClinVar
PMID:28492532 PMID:32934698
NCBI chr14:81,211,800...81,227,215
Ensembl chr14:81,211,800...81,227,209
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Fgfr4
fibroblast growth factor receptor 4
ISO
ClinVar Annotator: match by term: Classic Hodgkin lymphoma
ClinVar
PMID:32934698
NCBI chr17:9,466,686...9,481,423
Ensembl chr17:9,466,692...9,481,389
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Gata3
GATA binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21037568
NCBI chr17:73,544,234...73,575,670
Ensembl chr17:73,553,548...73,575,670
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Gstm1
glutathione S-transferase mu 1
disease_progression
ISO
RGD
PMID:21916526
RGD:10450802
NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:198,338,008...198,343,569
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Gstp1
glutathione S-transferase pi 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11406608
NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:210,767,237...210,769,705
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Gstt1
glutathione S-transferase theta 1
disease_progression
ISO
RGD
PMID:21916526
RGD:10450802
NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,083...12,873,019
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Icam1
intercellular adhesion molecule 1
ISO
protein:increased expression:serum: CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:7621881 PMID:8656679 PMID:7686390
RGD:11520780
NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:27,829,161...27,841,617
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Il10
interleukin 10
treatment
ISO
RGD
PMID:21466366
RGD:11049168
NCBI chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580
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Il6
interleukin 6
treatment
ISO
DNA:SNPs: :multiple
RGD
PMID:19573080 PMID:21466366
RGD:11049165 , RGD:11049168
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610
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Jun
Jun proto-oncogene, AP-1 transcription factor subunit
ISO
RGD
PMID:12145210
RGD:1549449
NCBI chr 5:115,009,900...115,012,993
Ensembl chr 5:114,973,151...115,013,285
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Junb
JunB proto-oncogene, AP-1 transcription factor subunit
ISO
RGD
PMID:12145210
RGD:1549449
NCBI chr19:40,081,126...40,082,910
Ensembl chr19:40,073,541...40,085,218
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Klhdc8b
kelch domain containing 8B
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Classic Hodgkin lymphoma | ClinVar Annotator: match by term: KLHDC8B-related condition
OMIM CTD ClinVar
PMID:19706467 PMID:25741868 PMID:28492532
NCBI chr 8:118,020,136...118,025,102
Ensembl chr 8:118,020,376...118,025,102
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Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Classic Hodgkin lymphoma
ClinVar
PMID:20147967 PMID:20570890 PMID:25251940 PMID:25741868 PMID:26110767 PMID:26970110 PMID:28492532 PMID:30289595 PMID:30891959 PMID:32934698 More...
NCBI chr 4:179,916,255...179,949,613
Ensembl chr 4:179,919,802...179,949,320
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Mapk1
mitogen activated protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7545087
NCBI chr11:97,462,025...97,529,193
Ensembl chr11:97,462,025...97,527,825
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Met
MET proto-oncogene, receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Classic Hodgkin lymphoma
ClinVar
PMID:14559814 PMID:21970370 PMID:22703879 PMID:23806086 PMID:24088041 PMID:24728327 PMID:25605252 PMID:25736269 PMID:25741868 PMID:25859546 PMID:26467025 PMID:28492532 PMID:32934698 More...
NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:46,756,506...46,870,821
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Mthfd2
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24688052
NCBI chr 4:117,368,833...117,380,350
Ensembl chr 4:117,368,835...117,380,350
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Myc
MYC proto-oncogene, bHLH transcription factor
ISO
ClinVar Annotator: match by term: Classic Hodgkin lymphoma
ClinVar
PMID:25741868 PMID:32934698
NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:95,483,105...95,488,028
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Nfkbia
NFKB inhibitor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19223558 PMID:10340377 PMID:10556199
RGD:2298893 , RGD:2298894
NCBI chr 6:78,593,844...78,597,307
Ensembl chr 6:78,593,847...78,597,072
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Pramex1
PRAME like, X-linked 1
severity
ISO
mRNA:increased expression:lymphoid tissue (human)
RGD
PMID:26044287
RGD:11060455
NCBI chr X:102,862,457...102,867,725
Ensembl chr X:102,861,881...102,870,708
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Ptpn1
protein tyrosine phosphatase, non-receptor type 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24531327
NCBI chr 3:177,056,588...177,106,424
Ensembl chr 3:177,057,659...177,106,416
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Pvt1
Pvt1 oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21037568
NCBI chr 7:95,545,916...95,769,306
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Rel
REL proto-oncogene, NF-kB subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21037568
NCBI chr14:101,891,238...101,922,324
Ensembl chr14:101,891,243...101,921,938
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Sdc1
syndecan 1
ISO
protein:altered expression:tumor (human)
RGD
PMID:9746758
RGD:9743928
NCBI chr 6:37,282,041...37,304,503
Ensembl chr 6:37,297,010...37,304,500
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Tnfrsf8
TNF receptor superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7621881 PMID:8701986 PMID:10908157 PMID:12358914 PMID:12453859 PMID:16879607 PMID:17261581 More...
NCBI chr 5:162,406,387...162,451,620
Ensembl chr 5:162,406,387...162,451,620
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7621881 PMID:8656679 PMID:8701986 PMID:8896393 PMID:9058727 PMID:10908157 PMID:11552987 PMID:12358914 More...
NCBI chr 5:82,266,436...82,292,858
Ensembl chr 5:82,266,436...82,292,858
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Ugt1a1
UDP glucuronosyltransferase family 1 member A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18768784
NCBI chr 9:96,249,143...96,256,264
Ensembl chr 9:96,144,786...96,256,264
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
19167
disease of cellular proliferation
7905
Neoplasms by Histologic Type
5351
lymphoma
580
Hodgkin's lymphoma
31
Hodgkin Disease, X-Linked Pseudoautosomal
0
Hodgkin Disease, Y-Linked Pseudoautosomal
0
Hodgkin's granuloma
0
Hodgkin's lymphoma, lymphocytic depletion
0
Hodgkin's lymphoma, lymphocytic-histiocytic predominance
0
Hodgkin's lymphoma, mixed cellularity
0
Hodgkin's lymphoma, nodular sclerosis
0
Hodgkin's paragranuloma
0
Path 2
disease
19167
disease of anatomical entity
18473
Immune & Inflammatory Diseases
5781
immune system disease
5094
lymphatic system disease
1751
lymphatic system cancer
664
lymphoma
580
Hodgkin's lymphoma
31
Hodgkin Disease, X-Linked Pseudoautosomal
0
Hodgkin Disease, Y-Linked Pseudoautosomal
0
Hodgkin's granuloma
0
Hodgkin's lymphoma, lymphocytic depletion
0
Hodgkin's lymphoma, lymphocytic-histiocytic predominance
0
Hodgkin's lymphoma, mixed cellularity
0
Hodgkin's lymphoma, nodular sclerosis
0
Hodgkin's paragranuloma
0