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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:Acquired Agranulocytosis
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Accession:DOID:9007038 term browser browse the term
Synonyms:exact_synonym: Agranulocytic Angina;   Granulocytopenia, Primary;   Neutropenia, Malignant
 primary_id: MESH:C538171;   RDO:0004110


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Chemotherapy-Induced Febrile Neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:polymorphism: : rs1695(human) RGD PMID:25008867 RGD:10755412 NCBI chrNW_004955422:17,914,228...17,916,918
Ensembl chrNW_004955422:17,914,305...17,917,428
JBrowse link
G Itpa inosine triphosphatase ISO associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :rs41320251 (human) RGD PMID:18685564 RGD:10766478 NCBI chrNW_004955415:14,106,786...14,121,975
Ensembl chrNW_004955415:14,107,380...14,121,619
JBrowse link
G Mbl2 mannose binding lectin 2 disease progression
susceptibility
ISO associated with Precursor B-Cell Lymphoblastic Leukemia-Lymphoma;DNA:polymorphisms:exon:
associated with Neoplasms;DNA:SNP,haplotyep:promoter:
associated with leukemia;
RGD PMID:20930093 PMID:24453114 PMID:24819208 RGD:11530041 RGD:11530043 RGD:11530056 NCBI chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006
JBrowse link
G Mdm2 MDM2 proto-oncogene susceptibility ISO associated with Breast Neoplasms;DNA:SNP:cds:309T>G(rs2279744)(human) RGD PMID:21706156 RGD:11073725 NCBI chrNW_004955458:15,264,028...15,287,290
Ensembl chrNW_004955458:15,263,739...15,286,808
JBrowse link
G Tp53 tumor protein p53 susceptibility ISO associated with Breast Neoplasms;DNA:SNP:cds: p.R72P(rs1042522)(human) RGD PMID:21706156 RGD:11073725 NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928
JBrowse link
Drug-Induced Agranulocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf3 colony stimulating factor 3 treatment ISO associated with Multiple Myeloma;
associated with Graves Disease;
RGD PMID:8935143 PMID:15785251 RGD:11039034 RGD:11039041 NCBI chrNW_004955451:14,688,181...14,690,126
Ensembl chrNW_004955451:14,688,181...14,690,126
JBrowse link
G Il1b interleukin 1 beta treatment ISO associated with Glioblastoma; RGD PMID:1331350 RGD:10450883 NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO associated with Leukemia;protein:decreased expression:serum: RGD PMID:8698137 RGD:11528539 NCBI chrNW_004955470:1,145,022...1,159,413
Ensembl chrNW_004955470:1,144,810...1,159,471
JBrowse link
Drug-induced Neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1 ATP binding cassette subfamily B member 1 susceptibility ISO associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNPs:rs1045642,rs1128503(human)
associated with Carcinoma, Non-Small-Cell Lung;DNA:SNP: :2677G>T(human)
Breast Neoplasms;DNA:SNP: :3435 C>T(human)
RGD PMID:17534875 PMID:22271208 PMID:25007187 RGD:11080964 RGD:11080979 RGD:11081001 NCBI chrNW_004955432:4,911,774...5,085,349 JBrowse link
G Abcc2 ATP binding cassette subfamily C member 2 susceptibility
no_association
ISO associated with neoplasm;DNA:SNP:rs12762549(human) RGD PMID:18294295 PMID:23188068 RGD:11080980 RGD:11080999 NCBI chrNW_004955507:5,724,788...5,791,281
Ensembl chrNW_004955507:5,724,762...5,790,812
JBrowse link
G Csf3 colony stimulating factor 3 treatment ISO associated with Leukemia, Hairy Cell;
associated with Hepatitis C, Chronic;
RGD PMID:2461131 PMID:17660602 RGD:11039035 RGD:11039036 NCBI chrNW_004955451:14,688,181...14,690,126
Ensembl chrNW_004955451:14,688,181...14,690,126
JBrowse link
G Dpyd dihydropyrimidine dehydrogenase treatment
no_association
ISO associated with Colorectal Neoplasms;DNA:SNPs: :rs1801159 (1896T>C), rs17376848 (human)
associated with Neoplasms;DNA:splice-site mutation:intron:IVS14+1G>A (human)
associated with Neoplasms;DNA:missense mutations: :multiple
DNA:splice-site mutation, missense mutations: :multiple
associated with Neoplasms;DNA:missense mutation: :p.M166V (496A>G) (human)
RGD PMID:11156223 PMID:12209976 PMID:19473056 PMID:23942539 RGD:11098817 RGD:11251736 RGD:11251737 RGD:11251738 NCBI chrNW_004955435:2,007,185...2,800,907
Ensembl chrNW_004955435:2,007,185...2,766,138
JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit treatment ISO associated with Colorectal Neoplasms;DNA:SNP RGD PMID:23543295 RGD:11340199 NCBI chrNW_004955555:2,393,510...2,430,180
Ensembl chrNW_004955555:2,393,278...2,406,582
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit treatment ISO associated with Urinary Bladder Neoplasms;DNA:SNP: :p.K751Q (rs13181) (human) RGD PMID:21047201 RGD:11098572 NCBI chrNW_004955555:2,355,005...2,369,599
Ensembl chrNW_004955555:2,355,005...2,369,599
JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor treatment ISO associated with lung non-small cell carcinoma;DNA:SNP:intron: (rs4253212) (human) RGD PMID:28924235 RGD:153323316 NCBI chrNW_004955556:745,175...812,215
Ensembl chrNW_004955556:748,231...813,133
JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:SNP:cds:p.I105V (rs1695) (human) RGD PMID:23812950 RGD:10755330 NCBI chrNW_004955422:17,914,228...17,916,918
Ensembl chrNW_004955422:17,914,305...17,917,428
JBrowse link
G Il1a interleukin 1 alpha treatment ISO associated with Carcinoma, Non-Small-Cell Lung RGD PMID:7666093 RGD:11051963 NCBI chrNW_004955470:1,527,710...1,538,418
Ensembl chrNW_004955470:1,527,674...1,538,466
JBrowse link
G Mdm2 MDM2 proto-oncogene susceptibility ISO associated with Small Cell Lung Carcinoma;DNA:SNP::rs2279744(human) RGD PMID:24732641 RGD:11073715 NCBI chrNW_004955458:15,264,028...15,287,290
Ensembl chrNW_004955458:15,263,739...15,286,808
JBrowse link
G Pold1 DNA polymerase delta 1, catalytic subunit treatment ISO associated with lung non-small cell carcinoma; DNA:SNPs:exon, introns: (rs1726801, rs1673041, rs3219341) (human) RGD PMID:28924235 RGD:153323316 NCBI chrNW_004955559:712,375...730,551
Ensembl chrNW_004955559:712,321...725,661
JBrowse link
G Sod2 superoxide dismutase 2 susceptibility ISO associated with female breast cancer;DNA:missense mutation:cds:p.V16A (rs4880) (human) RGD PMID:20309628 RGD:11035278 NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163
JBrowse link
G Tp53 tumor protein p53 susceptibility ISO associated with Small Cell Lung Carcinoma;DNA:SNP:: rs1042522(human) RGD PMID:24732641 RGD:11073715 NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      hematopoietic system disease 2941
        leukocyte disease 1139
          leukopenia 469
            agranulocytosis 433
              Acquired Agranulocytosis 17
                Drug-Induced Agranulocytosis + 17
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      Hemic and Lymphatic Diseases 3387
        hematopoietic system disease 2941
          leukocyte disease 1139
            leukopenia 469
              agranulocytosis 433
                Acquired Agranulocytosis 17
                  Drug-Induced Agranulocytosis + 17
paths to the root