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: Febrile Neutropenia
Accession: DOID:9008313
browse the term
Definition: Fever accompanied by a significant reduction in the number of NEUTROPHILS.
Synonyms: exact_synonym: Febrile Neutropenias
primary_id: MESH:D064147
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Ccl2
C-C motif chemokine ligand 2
ISO
associated with Hematologic Diseases;protein:increased expression:plasma (human)
RGD
PMID:23369970
RGD:11528559
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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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 chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Cyp3a9
cytochrome P450, family 3, subfamily a, polypeptide 9
susceptibility
ISO
associated with breast neoplasm;DNA:polymorphism:splice junction:6986A>G (human)
RGD
PMID:19332043
RGD:11353804
NCBI chr12:16,806,222...16,846,428
Ensembl chr12:16,806,207...16,846,422
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Fcgr3a
Fc gamma receptor 3A
treatment
ISO
associated with Lymphoma, Large B-Cell, Diffuse;DNA:SNP: :rs396991 (human)
RGD
PMID:27282998
RGD:11344967
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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Gstp1
glutathione S-transferase pi 1
susceptibility
ISO
DNA:polymorphism: : rs1695(human)
RGD
PMID:25008867
RGD:10755412
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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Itpa
inosine triphosphatase
ISO
associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :rs41320251 (human)
RGD
PMID:18685564
RGD:10766478
NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249
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Mbl2
mannose binding lectin 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 chr 1:228,016,439...228,024,736
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Mdm2
MDM2 proto-oncogene
susceptibility
ISO
associated with Breast Neoplasms;DNA:SNP:cds:309T>G(rs2279744)(human)
RGD
PMID:21706156
RGD:11073725
NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915
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Tp53
tumor protein p53
susceptibility
ISO
associated with Breast Neoplasms;DNA:SNP:cds: p.R72P(rs1042522)(human)
RGD
PMID:21706156
RGD:11073725
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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