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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 Ace angiotensin I converting enzyme severity ISO DNA:deletion:intron:IVS16+1464-1751del (human)
associated with acute leukemia;DNA:insertion/deletion:intron 16:
RGD PMID:15806540 PMID:24819208 RGD:11038917, RGD:11530041 NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
JBrowse link
G Cyp3a13 cytochrome P450, family 3, subfamily a, polypeptide 13 susceptibility ISO associated with breast neoplasm;DNA:polymorphism:splice junction:6986A>G(human) RGD PMID:19332043 RGD:11353804 NCBI chr 5:137,891,195...137,923,872
Ensembl chr 5:137,891,194...137,919,881
JBrowse link
G Fcgr4 Fc receptor, IgG, low affinity IV treatment ISO associated with Lymphoma, Large B-Cell, Diffuse;DNA:SNP: :rs396991 (human) RGD PMID:27282998 RGD:11344967 NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330
JBrowse link
G Gstp1 glutathione S-transferase, pi 1 susceptibility ISO DNA:polymorphism: : rs1695(human) RGD PMID:25008867 RGD:10755412 NCBI chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985
JBrowse link
G Itpa inosine triphosphatase (nucleoside triphosphate pyrophosphatase) ISO associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :rs41320251 (human) RGD PMID:18685564 RGD:10766478 NCBI chr 2:130,506,702...130,523,534
Ensembl chr 2:130,509,530...130,523,534
JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 susceptibility
disease progression
ISO associated with leukemia;
associated with Precursor B-Cell Lymphoblastic Leukemia-Lymphoma;DNA:polymorphisms:exon:
associated with Neoplasms;DNA:SNP,haplotyep:promoter:
RGD PMID:24819208 PMID:24453114 PMID:20930093 RGD:11530041, RGD:11530056, RGD:11530043 NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
JBrowse link
G Mdm2 transformed mouse 3T3 cell double minute 2 susceptibility ISO associated with Breast Neoplasms;DNA:SNP:cds:309T>G(rs2279744)(human) RGD PMID:21706156 RGD:11073725 NCBI chr10:117,524,780...117,546,663
Ensembl chr10:117,524,780...117,546,663
JBrowse link
G Trp53 transformation related protein 53 susceptibility ISO associated with Breast Neoplasms;DNA:SNP:cds: p.R72P(rs1042522)(human) RGD PMID:21706156 RGD:11073725 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
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 (granulocyte) treatment ISO associated with Graves Disease;
associated with Multiple Myeloma;
RGD PMID:15785251 PMID:8935143 RGD:11039034, RGD:11039041 NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455
JBrowse link
G Il1b interleukin 1 beta treatment ISO associated with Glioblastoma; RGD PMID:1331350 RGD:10450883 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO associated with Leukemia;protein:decreased expression:serum: RGD PMID:8698137 RGD:11528539 NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
JBrowse link
G Nat2 N-acetyltransferase 2 (arylamine N-acetyltransferase) ISO associated with Inflammation; RGD PMID:10739170 RGD:11532771 NCBI chr 8:67,947,527...67,955,296
Ensembl chr 8:67,947,510...67,955,236
JBrowse link
Drug-induced Neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP-binding cassette, sub-family B member 1A susceptibility ISO associated with Carcinoma, Non-Small-Cell Lung;DNA:SNP: :2677G>T(human)
associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNPs:rs1045642,rs1128503(human)
Breast Neoplasms;DNA:SNP: :3435 C>T(human)
RGD PMID:17534875 PMID:25007187 PMID:22271208 RGD:11080964, RGD:11080979, RGD:11081001 NCBI chr 5:8,617,091...8,798,575
Ensembl chr 5:8,710,077...8,798,575
JBrowse link
G Abcc2 ATP-binding cassette, sub-family member 2 susceptibility
no_association
ISO associated with neoplasm;DNA:SNP:rs12762549(human) RGD PMID:18294295 PMID:23188068 RGD:11080980, RGD:11080999 NCBI chr19:43,770,747...43,826,771
Ensembl chr19:43,770,631...43,829,179
JBrowse link
G Csf3 colony stimulating factor 3 (granulocyte) treatment ISO associated with Leukemia, Hairy Cell;
associated with Hepatitis C, Chronic;
RGD PMID:2461131 PMID:17660602 RGD:11039035, RGD:11039036 NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455
JBrowse link
G Cyp2c29 cytochrome P450, family 2, subfamily c, polypeptide 29 susceptibility ISO associated with Ovarian Neoplasms: DNA:polymorphism: : RGD PMID:21702053 RGD:11353800 NCBI chr19:39,275,541...39,319,157
Ensembl chr19:39,257,849...39,319,157
JBrowse link
G Cyp3a13 cytochrome P450, family 3, subfamily a, polypeptide 13 susceptibility ISO associated with Ovarian Neoplasms: DNA:polymorphism: :
associated with breast neoplasm;DNA:polymorphism:splice junction:6986A>G(human)
RGD PMID:21702053 PMID:19332043 RGD:11353800, RGD:11353804 NCBI chr 5:137,891,195...137,923,872
Ensembl chr 5:137,891,194...137,919,881
JBrowse link
G Dpyd dihydropyrimidine dehydrogenase treatment
no_association
ISO associated with Neoplasms;DNA:splice-site mutation:intron:IVS14+1G>A (human)
associated with Colorectal Neoplasms;DNA:SNPs: :rs1801159 (1896T>C), rs17376848 (human)
DNA:splice-site mutation, missense mutations: :multiple
associated with Neoplasms;DNA:missense mutation: :p.M166V (496A>G) (human)
associated with Neoplasms;DNA:missense mutations: :multiple
RGD PMID:12209976 PMID:23942539 PMID:11156223 PMID:19473056 PMID:19473056 RGD:11251736, RGD:11251737, RGD:11251738, RGD:11098817, RGD:11098817 NCBI chr 3:118,355,758...119,226,573
Ensembl chr 3:118,355,778...119,226,573
JBrowse link
G Ercc1 excision repair cross-complementing rodent repair deficiency, complementation group 1 treatment ISO associated with Colorectal Neoplasms;DNA:SNP RGD PMID:23543295 RGD:11340199 NCBI chr 7:19,079,016...19,090,449
Ensembl chr 7:19,078,703...19,090,449
JBrowse link
G Ercc2 excision repair cross-complementing rodent repair deficiency, complementation group 2 treatment ISO associated with Urinary Bladder Neoplasms;DNA:SNP: :p.K751Q (rs13181) (human) RGD PMID:21047201 RGD:11098572 NCBI chr 7:19,115,942...19,129,619
Ensembl chr 7:19,115,935...19,129,619
JBrowse link
G Ercc6 excision repair cross-complementing rodent repair deficiency, complementation group 6 treatment ISO associated with lung non-small cell carcinoma;DNA:SNP:intron: (rs4253212) (human) RGD PMID:28924235 RGD:153323316 NCBI chr14:32,235,248...32,302,947
Ensembl chr14:32,235,478...32,302,947
JBrowse link
G Fcgr4 Fc receptor, IgG, low affinity IV ISO associated with Lymphoma, Large B-Cell, Diffuse;DNA:polymorphism: :p.V158F (human)
associated with Non-Hodgkin lymphoma;DNA:polymorphism: :p.V158F (human)
associated with Lymphoma, B-Cell;DNA:polymorphism: :p.V158F (human)
RGD PMID:21883784 PMID:19933905 PMID:20730791 RGD:11344964, RGD:11344973, RGD:11352256 NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330
JBrowse link
G Gstp1 glutathione S-transferase, pi 1 susceptibility ISO DNA:SNP:cds:p.I105V (rs1695) (human) RGD PMID:23812950 RGD:10755330 NCBI chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985
JBrowse link
G Gstt1 glutathione S-transferase, theta 1 susceptibility ISO associated with breast cancer RGD PMID:23812950 RGD:10755330 NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418
JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 ISO RGD PMID:27400856 RGD:14928329 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
JBrowse link
G Il1a interleukin 1 alpha treatment ISO associated with Carcinoma, Non-Small-Cell Lung RGD PMID:7666093 RGD:11051963 NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892
JBrowse link
G Mdm2 transformed mouse 3T3 cell double minute 2 susceptibility ISO associated with Small Cell Lung Carcinoma;DNA:SNP::rs2279744(human) RGD PMID:24732641 RGD:11073715 NCBI chr10:117,524,780...117,546,663
Ensembl chr10:117,524,780...117,546,663
JBrowse link
G Pold1 polymerase (DNA directed), 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 chr 7:44,182,168...44,198,239
Ensembl chr 7:44,182,170...44,198,273
JBrowse link
G Slco1b2 solute carrier organic anion transporter family, member 1b2 susceptibility
no_association
ISO associated with neoplasm;DNA:SNP:rs11045585(human)
associated with neoplasm;DNA:SNP: rs11045585(human)
RGD PMID:18294295 PMID:23188068 RGD:11080980, RGD:11080999 NCBI chr 6:141,575,178...141,632,372
Ensembl chr 6:141,575,244...141,632,372
JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial susceptibility ISO associated with female breast cancer;DNA:missense mutation:cds:p.V16A (rs4880) (human) RGD PMID:20309628 RGD:11035278 NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950
JBrowse link
G Trp53 transformation related protein 53 susceptibility ISO associated with Small Cell Lung Carcinoma;DNA:SNP:: rs1042522(human) RGD PMID:24732641 RGD:11073715 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
JBrowse link
G Ugt1a1 UDP glucuronosyltransferase 1 family, polypeptide A1 susceptibility
treatment
ISO associated with neoplasms;DNA:polymorphism, repeat:promoter:-3156G>A, TA (human)
associated with Genital Neoplasms, Female;DNA:polymorphisms: :
associated with Adenocarcinoma, Colorectal;DNA:repeat:promoter:(TA) (rs8175347)
associated with Esophageal Neoplasms,Stomach Neoplasm;DNA:repeat:promoter:(TA)
associated with Carcinoma, Non-Small-Cell Lung; DNA:repeat:promoter:(TA)
RGD PMID:15007088 PMID:24932285 PMID:20177420 PMID:23783485 PMID:16636344 RGD:10768826, RGD:10768867, RGD:10769334, RGD:10769336, RGD:10769339 NCBI chr 1:88,139,681...88,147,724
Ensembl chr 1:88,139,681...88,146,719
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18300
    disease of anatomical entity 15630
      hematopoietic system disease 3272
        leukocyte disease 1285
          leukopenia 542
            agranulocytosis 502
              Acquired Agranulocytosis 26
                Drug-Induced Agranulocytosis + 26
Path 2
Term Annotations click to browse term
  disease 18300
    disease of anatomical entity 15630
      Hemic and Lymphatic Diseases 3775
        hematopoietic system disease 3272
          leukocyte disease 1285
            leukopenia 542
              agranulocytosis 502
                Acquired Agranulocytosis 26
                  Drug-Induced Agranulocytosis + 26
paths to the root