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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:sickle cell anemia
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Accession:DOID:10923 term browser browse the term
Definition:A sickle cell disease that is characterized by the replacement of both of the beta-globin subunits in hemoglobin with hemoglobin S, resulting in a low number of red blood cells, repeated infections, and periodic episodes of pain. (DO)
Synonyms:exact_synonym: Hb-SS disease without crisis;   HbS disease;   HbSS disease;   drepanocytosis;   haemoglobin SC disease;   hemoglobin S disease;   hemoglobin S disease without crisis;   hemoglobin S diseases;   homozygous sickle cell disease;   sickle cell anaemia;   sickle cell anemias;   sickle cell disease;   sickle cell diseases;   sickle cell disorder;   sickle cell disorders;   sickle-cell/Hb-C disease without crisis;   sickling disorder due to hemoglobin S
 related_synonym: HEMOGLOBIN D (IRAN);   HEMOGLOBIN KORLE-BU;   HEMOGLOBIN ROCKFORD;   Hemoglobin Quebec-Chori;   hemoglobin Chori
 xref: EFO:0000697;   GARD:8614;   ICD10CM:D57.1;   ICD10CM:D57.2;   ICD9CM:282.6;   ICD9CM:282.63;   MESH:D000755;   MONDO:0011382;   NCI:C34383;   NCI:C34676;   ORDO:232
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
sickle cell anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALAD aminolevulinate dehydratase IDA protein:increased activity:erythrocyte RGD PMID:900140 RGD:12904674 NCBI chr 9:113,386,312...113,401,284
Ensembl chr 9:113,386,312...113,401,290 		JBrowse link
G APOB apolipoprotein B treatment IDA RGD PMID:24035168 RGD:11354943 NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073 		JBrowse link
G BCL11A BCL11 transcription factor A severity
treatment		 IAGP
IDA
ISO		 DNA:snp, haplotype:intron:c.386-24983T>C (rs4671393) (human) RGD PMID:18667698 PMID:22360576 PMID:21998251 RGD:11099970, RGD:11100007, RGD:11099996 NCBI chr 2:60,450,520...60,553,924
Ensembl chr 2:60,450,520...60,554,467 		JBrowse link
G C3 complement C3 severity IDA
IEP		 protein:increased processing RGD PMID:7554454 PMID:3896597 RGD:11040773, RGD:11040777 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562 		JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase EXP CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 2:27,217,369...27,243,943
Ensembl chr 2:27,217,369...27,243,943 		JBrowse link
G CD36 CD36 molecule (CD36 blood group) treatment IEP
ISO		 protein:increased expression:erythrocyte RGD PMID:18322255 PMID:20015873 RGD:6893506, RGD:11041114 NCBI chr 7:80,602,207...80,679,274
Ensembl chr 7:80,369,575...80,679,277 		JBrowse link
G CD40LG CD40 ligand IEP protein:increased expression:plasma (human) RGD PMID:24368019 RGD:11352270 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390 		JBrowse link
G CFB complement factor B IEP
IDA		 protein:decreased activity RGD PMID:10440069 PMID:12793071 RGD:11041159, RGD:11041160 NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,086 		JBrowse link
G CYP2C19 cytochrome P450 family 2 subfamily C member 19 susceptibility IAGP DNA:polymorphisms: :c.681 G>A,wildtype(human) RGD PMID:20831548 RGD:11352749 NCBI chr10:94,762,681...94,855,547
Ensembl chr10:94,762,681...94,855,547 		JBrowse link
G DHODH dihydroorotate dehydrogenase (quinone) EXP CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr16:72,008,744...72,027,659
Ensembl chr16:72,008,588...72,027,664 		JBrowse link
G F2 coagulation factor II, thrombin disease_progression ISO
IEP		 protein:increased expression:plasma: RGD PMID:26286849 PMID:8191393 RGD:11565074, RGD:11565080 NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506 		JBrowse link
G F3 coagulation factor III, tissue factor IEP protein:increased expression:plasma RGD PMID:15795541 RGD:11341683 NCBI chr 1:94,529,173...94,541,759
Ensembl chr 1:94,529,173...94,541,759 		JBrowse link
G GCH1 GTP cyclohydrolase 1 sexual_dimorphism IAGP DNA:SNP, haplotype:rs8007267 (human) RGD PMID:24136375 RGD:329961567 NCBI chr14:54,842,017...54,902,826
Ensembl chr14:54,842,008...54,902,826 		JBrowse link
G GPX1 glutathione peroxidase 1 treatment IDA
ISO		 protein:decreased expression:penis RGD PMID:19951064 PMID:20846340 PMID:22620981 RGD:11352756, RGD:11352775, RGD:11352757 NCBI chr 3:49,357,176...49,358,353
Ensembl chr 3:49,357,174...49,358,605 		JBrowse link
G GSR glutathione-disulfide reductase ISO protein:increased activity:erythrocyte: RGD PMID:14717789 RGD:11059503 NCBI chr 8:30,678,066...30,727,846
Ensembl chr 8:30,678,066...30,727,846 		JBrowse link
G GSTT1 glutathione S-transferase theta 1 susceptibility IAGP RGD PMID:23049400 RGD:10450863
G HBB hemoglobin subunit beta IAGP
EXP		 DNA:point mutation:CDS:70A>T, amino acid E6V (Hemoglobin S)
ClinVar Annotator: match by term: Sickling disorder due to hemoglobin S
ClinVar Annotator: match by term: HEMOGLOBIN KORLE-BU
ClinVar Annotator: match by term: Hemoglobin S Disease
ClinVar Annotator: match by term: HEMOGLOBIN D (IRAN)
ClinVar Annotator: match by term: HEMOGLOBIN ROCKFORD
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:14973 PMID:81926 PMID:88735 PMID:429843 PMID:700140 More... RGD:1600892 NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395 		JBrowse link
G HBE1 hemoglobin subunit epsilon 1 treatment IMP
IAGP		 DNA:SNP: :rs7130110 (human) RGD PMID:12124399 PMID:23409025 RGD:11353858, RGD:11353860 NCBI chr11:5,268,345...5,269,945
Ensembl chr11:5,268,345...5,505,652 		JBrowse link
G HBG2 hemoglobin subunit gamma 2 severity IAGP sickle cell anemia with hereditary persistence of fetal hemoglobin, OMIM:141749 DNA:point_mutation:promoter:-158C>T, decreases the severity of the sickle cell disease which results from the presence of the Hemoglobin S allele RGD PMID:2432426 RGD:1600594 NCBI chr11:5,253,188...5,254,781
Ensembl chr11:5,253,188...5,505,605 		JBrowse link
G HK1 hexokinase 1 IEP protein:alternative form:erythrocyte RGD PMID:5686464 RGD:11353884 NCBI chr10:69,270,000...69,401,882
Ensembl chr10:69,269,984...69,401,884 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP DNA:polymorphism, haplotype RGD PMID:19254255 RGD:11041761 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HMBS hydroxymethylbilane synthase IDA protein:increased activity:erythrocyte RGD PMID:900140 RGD:12904674 NCBI chr11:119,084,881...119,093,549
Ensembl chr11:119,084,866...119,093,834 		JBrowse link
G HMOX1 heme oxygenase 1 treatment IEP
ISO		 RGD PMID:11238038 PMID:20306336 RGD:10755563, RGD:10755565 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214 		JBrowse link
G HP haptoglobin EXP CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055 		JBrowse link
G IL10 interleukin 10 treatment ISO RGD PMID:24281564 RGD:11046271 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G IL5 interleukin 5 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:25843670 RGD:11354938 NCBI chr 5:132,541,445...132,556,815
Ensembl chr 5:132,541,445...132,556,838 		JBrowse link
G LOC106099062 HBB recombination region IAGP ClinVar Annotator: match by term: Sickling disorder due to hemoglobin S
ClinVar Annotator: match by term: HEMOGLOBIN KORLE-BU
ClinVar Annotator: match by term: HEMOGLOBIN D (IRAN)
ClinVar Annotator: match by term: HEMOGLOBIN ROCKFORD		 ClinVar PMID:81926 PMID:88735 PMID:700140 PMID:893136 PMID:909565 More... NCBI chr11:5,226,570...5,228,834 JBrowse link
G LOC107133510 origin of replication at HBB IAGP ClinVar Annotator: match by term: Sickling disorder due to hemoglobin S
ClinVar Annotator: match by term: HEMOGLOBIN KORLE-BU
ClinVar Annotator: match by term: Hemoglobin S Disease
ClinVar Annotator: match by term: HEMOGLOBIN D (IRAN)
ClinVar Annotator: match by term: HEMOGLOBIN ROCKFORD		 ClinVar PMID:14973 PMID:81926 PMID:88735 PMID:429843 PMID:700140 More... NCBI chr11:5,222,166...5,229,620 JBrowse link
G LOC110006319 beta-globin gene 3' regulatory region IAGP ClinVar Annotator: match by term: Sickling disorder due to hemoglobin S
ClinVar Annotator: match by term: Hemoglobin S Disease		 ClinVar PMID:14973 PMID:429843 PMID:721614 PMID:750553 PMID:808079 More... NCBI chr11:5,223,780...5,226,590 JBrowse link
G MDM2 MDM2 proto-oncogene ISO RGD PMID:21085184 RGD:10412315 NCBI chr12:68,808,172...68,850,686
Ensembl chr12:68,808,177...68,845,544 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase severity
no_association		 IAGP DNA:SNP: :677C>T (human)
DNA:SNP: :1298A>C (human)		 RGD PMID:22924497 PMID:20113291 PMID:22924497 RGD:10449403, RGD:10449420, RGD:10449403 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29255069 NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756 		JBrowse link
G NOS3 nitric oxide synthase 3 severity IAGP DNA:polymorphisms,haplotype:intron,cds:894G>T, -786T>C(human) RGD PMID:24088668 RGD:11533647 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588 		JBrowse link
G NPPB natriuretic peptide B severity IEP
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:20408845 PMID:21689089 RGD:5685653 NCBI chr 1:11,857,464...11,858,945
Ensembl chr 1:11,857,464...11,858,945 		JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 severity IEP protein:increased expression:serum (human) RGD PMID:20306667 RGD:11541101 NCBI chr17:64,319,415...64,390,860
Ensembl chr17:64,319,415...64,413,776 		JBrowse link
G PGF placental growth factor IEP protein:increased expression:plasma RGD PMID:20040765 RGD:6483588 NCBI chr14:74,941,830...74,955,764
Ensembl chr14:74,941,834...74,955,626 		JBrowse link
G PON1 paraoxonase 1 IEP protein:decreased activity: serum (human) RGD PMID:24508012 RGD:11553835 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532 		JBrowse link
G SELP selectin P ISO RGD PMID:21071696 RGD:6219007 NCBI chr 1:169,588,849...169,630,124
Ensembl chr 1:169,588,849...169,630,193 		JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISS OMIM:603903 MouseDO NCBI chr 1:158,610,704...158,686,715
Ensembl chr 1:158,610,704...158,686,715 		JBrowse link
G TGFB1 transforming growth factor beta 1 IEP protein:increased expression:plasma: RGD PMID:26928604 RGD:11062147 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G TNF tumor necrosis factor IEP
EXP		 protein:increased expression:serum
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:14965870 PMID:8140855 RGD:10449460 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G UMPS uridine monophosphate synthetase EXP CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 3:124,730,452...124,749,273
Ensembl chr 3:124,730,433...124,749,273 		JBrowse link
G VCAM1 vascular cell adhesion molecule 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16916123 NCBI chr 1:100,719,742...100,739,045
Ensembl chr 1:100,719,742...100,739,045 		JBrowse link
acute chest syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GSTM1 glutathione S-transferase mu 1 susceptibility IAGP associated with sickle cell anemia; RGD PMID:23590899 RGD:10450838 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039 		JBrowse link
G GSTT1 glutathione S-transferase theta 1 susceptibility IAGP associated with Anemia, Sickle Cell;DNA:deletion:: (human) RGD PMID:23590899 RGD:10450838
G HBB hemoglobin subunit beta IAGP DNA:SNPs, haplotypes RGD PMID:23952145 RGD:10449047 NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395 		JBrowse link
G HMOX1 heme oxygenase 1 IAGP associated with Anemia, Sickle Cell;DNA:repeat:promoter RGD PMID:22966170 RGD:10755560 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214 		JBrowse link
G NOS3 nitric oxide synthase 3 susceptibility IAGP associated with Anemia, Sickle Cell;DNA:repeats:intron:
associated with Anemia, Sickle Cell;DNA:polymorphism: :-786T>C(human)		 RGD PMID:25263931 PMID:14687036 RGD:11533931, RGD:11533934 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588 		JBrowse link
G VEGFA vascular endothelial growth factor A susceptibility IAGP associated with Anemia, Sickle Cell;DNA:polymorphism:583C > T (human)
associated with Anemia, Sickle Cell;DNA:SNPs: : rs2010963, rs833068,rs3025020(human)		 RGD PMID:25130874 PMID:22925497 RGD:11075233, RGD:11075235 NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487 		JBrowse link
Hemoglobin SC Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HBB hemoglobin subunit beta IAGP ClinVar Annotator: match by term: Sickle cell-hemoglobin C disease ClinVar PMID:81926 PMID:909565 PMID:1301203 PMID:1376298 PMID:1680789 More... NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395 		JBrowse link
G LOC106099062 HBB recombination region IAGP ClinVar Annotator: match by term: Sickle cell-hemoglobin C disease ClinVar PMID:81926 PMID:909565 PMID:1301203 PMID:1376298 PMID:1680789 More... NCBI chr11:5,226,570...5,228,834 JBrowse link
G LOC107133510 origin of replication at HBB IAGP ClinVar Annotator: match by term: Sickle cell-hemoglobin C disease ClinVar PMID:81926 PMID:909565 PMID:1301203 PMID:1376298 PMID:1680789 More... NCBI chr11:5,222,166...5,229,620 JBrowse link
Sickle Cell Retinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SERPINF1 serpin family F member 1 IEP protein:increased expression:retinal blood vessels (human) RGD PMID:12957143 RGD:8554869 NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565 		JBrowse link
Sickle Cell Trait term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HBB hemoglobin subunit beta IAGP ClinVar Annotator: match by term: HEMOGLOBIN D (IBADAN) ClinVar PMID:284392 PMID:974261 PMID:1891024 PMID:5097135 PMID:5481775 More... NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395 		JBrowse link
G HP haptoglobin IEP RGD PMID:21595649 PMID:19023114 RGD:5147416, RGD:5147440 NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055 		JBrowse link
G LOC106099062 HBB recombination region IAGP ClinVar Annotator: match by term: HEMOGLOBIN D (IBADAN) ClinVar PMID:284392 PMID:974261 PMID:1891024 PMID:5097135 PMID:5481775 More... NCBI chr11:5,226,570...5,228,834 JBrowse link
G LOC107133510 origin of replication at HBB IAGP ClinVar Annotator: match by term: HEMOGLOBIN D (IBADAN) ClinVar PMID:284392 PMID:974261 PMID:1891024 PMID:5097135 PMID:5481775 More... NCBI chr11:5,222,166...5,229,620 JBrowse link
Vaso-occlusive Crisis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GSTM1 glutathione S-transferase mu 1 severity IAGP associated with Anemia, Sickle Cell;DNA:deletion:: (human) RGD PMID:24840051 RGD:10450860 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039 		JBrowse link
G GSTT1 glutathione S-transferase theta 1 IAGP associated with Anemia, Sickle Cell;DNA:deletion:: (human) RGD PMID:23590899 RGD:10450838
G MBL2 mannose binding lectin 2 susceptibility IAGP associated with Anemia, Sickle Cell;DNA:promoter,exon: RGD PMID:20172753 RGD:11530044 NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784 		JBrowse link
G NOS3 nitric oxide synthase 3 susceptibility IAGP associated with Anemia, Sickle Cell;DNA:repeats:intron: RGD PMID:25263931 RGD:11533931 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588 		JBrowse link
G PDE9A phosphodiesterase 9A treatment ISO RGD PMID:22833547 RGD:242905184 NCBI chr21:42,653,621...42,775,509
Ensembl chr21:42,653,621...42,775,509 		JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) IDA RGD PMID:23643401 RGD:11100023 NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97387
    physical disorder 7971
      congenital hemolytic anemia 653
        sickle cell anemia 49
          Hemoglobin SC Disease 3
          Sickle Cell Retinopathy 1
          Sickle Cell Trait 4
          Vaso-occlusive Crisis 6
          acute chest syndrome 6
Path 2
Term Annotations click to browse term
  disease 97387
    disease of anatomical entity 91016
      Hemic and Lymphatic Diseases 9322
        hematopoietic system disease 8440
          anemia 1417
            normocytic anemia 1273
              hemolytic anemia 738
                congenital hemolytic anemia 653
                  hemoglobinopathy 490
                    sickle cell anemia 49
                      Hemoglobin SC Disease 3
                      Sickle Cell Retinopathy 1
                      Sickle Cell Trait 4
                      Vaso-occlusive Crisis 6
                      acute chest syndrome 6
paths to the root