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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, delta-, dehydratase ISO protein:increased activity:erythrocyte RGD PMID:900140 RGD:12904674 NCBI chr 4:62,422,762...62,438,300
Ensembl chr 4:62,427,406...62,438,155 		JBrowse link
G Apob apolipoprotein B treatment ISO RGD PMID:24035168 RGD:11354943 NCBI chr12:8,027,629...8,066,839
Ensembl chr12:8,027,648...8,066,835 		JBrowse link
G Bcl11a BCL11 transcription factor A severity
treatment		 ISO
IMP		 DNA:snp, haplotype:intron:c.386-24983T>C (rs4671393) (human) RGD PMID:18667698 PMID:22360576 PMID:21998251 RGD:11099970, RGD:11100007, RGD:11099996 NCBI chr11:24,026,498...24,123,558
Ensembl chr11:24,028,056...24,124,123 		JBrowse link
G C3 complement component 3 severity ISO protein:increased processing RGD PMID:7554454 PMID:3896597 RGD:11040773, RGD:11040777 NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136 		JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 5:31,211,964...31,235,823
Ensembl chr 5:31,212,124...31,235,823 		JBrowse link
G Cd36 CD36 molecule treatment ISO
IMP		 protein:increased expression:erythrocyte RGD PMID:18322255 PMID:20015873 RGD:6893506, RGD:11041114 NCBI chr 5:17,986,680...18,093,828
Ensembl chr 5:17,986,688...18,093,799 		JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:plasma (human) RGD PMID:24368019 RGD:11352270 NCBI chr  X:56,257,448...56,269,402
Ensembl chr  X:56,257,503...56,269,402 		JBrowse link
G Cfb complement factor B ISO protein:decreased activity RGD PMID:10440069 PMID:12793071 RGD:11041159, RGD:11041160 NCBI chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494 		JBrowse link
G Cyp2c38 cytochrome P450, family 2, subfamily c, polypeptide 38 susceptibility ISO DNA:polymorphisms: :c.681 G>A,wildtype(human) RGD PMID:20831548 RGD:11352749 NCBI chr19:39,379,109...39,451,519
Ensembl chr19:39,378,000...39,451,519 		JBrowse link
G Cyp2c66 cytochrome P450, family 2, subfamily c, polypeptide 66 susceptibility ISO DNA:polymorphisms: :c.681 G>A,wildtype(human) RGD PMID:20831548 RGD:11352749 NCBI chr19:39,102,342...39,175,200
Ensembl chr19:39,102,342...39,175,516 		JBrowse link
G Dhodh dihydroorotate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 8:110,319,876...110,335,330
Ensembl chr 8:110,317,975...110,335,305 		JBrowse link
G F2 coagulation factor II disease_progression IMP
ISO		 protein:increased expression:plasma: RGD PMID:26286849 PMID:8191393 RGD:11565074, RGD:11565080 NCBI chr 2:91,442,742...91,466,799
Ensembl chr 2:91,455,665...91,466,759 		JBrowse link
G F3 coagulation factor III ISO protein:increased expression:plasma RGD PMID:15795541 RGD:11341683 NCBI chr 3:121,517,186...121,528,701
Ensembl chr 3:121,517,186...121,528,697 		JBrowse link
G Gch1 GTP cyclohydrolase 1 sexual_dimorphism ISO DNA:SNP, haplotype:rs8007267 (human) RGD PMID:24136375 RGD:329961567 NCBI chr14:47,391,352...47,426,870
Ensembl chr14:47,391,352...47,426,870 		JBrowse link
G Gpx1 glutathione peroxidase 1 treatment ISO
IEP		 protein:decreased expression:penis RGD PMID:19951064 PMID:22620981 PMID:20846340 RGD:11352756, RGD:11352757, RGD:11352775 NCBI chr 9:108,216,279...108,217,541
Ensembl chr 9:108,216,102...108,217,542 		JBrowse link
G Gsr glutathione reductase IEP protein:increased activity:erythrocyte: RGD PMID:14717789 RGD:11059503 NCBI chr 8:34,143,266...34,188,190
Ensembl chr 8:34,142,551...34,188,191 		JBrowse link
G Gstt1 glutathione S-transferase, theta 1 susceptibility ISO RGD PMID:23049400 RGD:10450863 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 DNA:polymorphism, haplotype RGD PMID:19254255 RGD:11041761 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393 		JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HEMOGLOBIN D (IRAN) | ClinVar Annotator: match by term: HEMOGLOBIN KORLE-BU | ClinVar Annotator: match by term: HEMOGLOBIN ROCKFORD | ClinVar Annotator: match by term: Hemoglobin S Disease | ClinVar Annotator: match by term: Sickling disorder due to hemoglobin S
ClinVar Annotator: match by term: HEMOGLOBIN D (IRAN) | ClinVar Annotator: match by term: HEMOGLOBIN ROCKFORD | ClinVar Annotator: match by term: Hemoglobin S Disease | ClinVar Annotator: match by term: Sickle cell disease | ClinVar Annotator: match by term: Sickling disorder due to hemoglobin S		 CTD
ClinVar		 PMID:14973 PMID:49057 PMID:81926 PMID:88735 PMID:429843 More...
G Hbb-b2 hemoglobin, beta adult minor chain ISO RGD PMID:6304979 RGD:1600892
G Hbb-y hemoglobin Y, beta-like embryonic chain treatment ISO DNA:SNP: :rs7130110 (human) RGD PMID:12124399 PMID:23409025 RGD:11353858, RGD:11353860 NCBI chr 7:103,500,961...103,502,414
Ensembl chr 7:103,500,956...103,502,423 		JBrowse link
G Hk1 hexokinase 1 ISO protein:alternative form:erythrocyte RGD PMID:5686464 RGD:11353884 NCBI chr10:62,104,634...62,215,699
Ensembl chr10:62,104,634...62,215,687 		JBrowse link
G Hmbs hydroxymethylbilane synthase ISO protein:increased activity:erythrocyte RGD PMID:900140 RGD:12904674 NCBI chr 9:44,247,645...44,255,525
Ensembl chr 9:44,247,636...44,255,525 		JBrowse link
G Hmox1 heme oxygenase 1 treatment IEP
ISO		 RGD PMID:11238038 PMID:20306336 RGD:10755563, RGD:10755565 NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217 		JBrowse link
G Hp haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr 8:110,301,760...110,305,804
Ensembl chr 8:110,301,760...110,305,804 		JBrowse link
G Il10 interleukin 10 treatment IEP RGD PMID:24281564 RGD:11046271 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
G Il5 interleukin 5 IEP protein:increased expression:respiratory system fluid/secretion RGD PMID:25843670 RGD:11354938 NCBI chr11:53,611,621...53,615,930
Ensembl chr11:53,611,621...53,615,933 		JBrowse link
G Mdm2 transformed mouse 3T3 cell double minute 2 IEP RGD PMID:21085184 RGD:10412315 NCBI chr10:117,524,780...117,546,663
Ensembl chr10:117,524,780...117,546,663 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase severity
no_association		 ISO 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 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008 		JBrowse link
G Nfe2l2 nuclear factor, erythroid derived 2, like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29255069 NCBI chr 2:75,505,860...75,535,007
Ensembl chr 2:75,505,857...75,534,985 		JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell severity ISO DNA:polymorphisms,haplotype:intron,cds:894G>T, -786T>C(human) RGD PMID:24088668 RGD:11533647 NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472 		JBrowse link
G Nppb natriuretic peptide type B severity ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:20408845 PMID:21689089 RGD:5685653 NCBI chr 4:148,070,264...148,071,662
Ensembl chr 4:148,070,245...148,071,662 		JBrowse link
G Pecam1 platelet/endothelial cell adhesion molecule 1 severity ISO protein:increased expression:serum (human) RGD PMID:20306667 RGD:11541101 NCBI chr11:106,545,039...106,606,107
Ensembl chr11:106,545,043...106,641,454 		JBrowse link
G Pgf placental growth factor ISO protein:increased expression:plasma RGD PMID:20040765 RGD:6483588 NCBI chr12:85,213,413...85,224,087
Ensembl chr12:85,213,409...85,224,564 		JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased activity: serum (human) RGD PMID:24508012 RGD:11553835 NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946 		JBrowse link
G Selp selectin, platelet IMP RGD PMID:21071696 RGD:6219007 NCBI chr 1:163,942,833...163,977,595
Ensembl chr 1:163,942,833...163,977,595 		JBrowse link
G Spta1 spectrin alpha, erythrocytic 1 IAGP OMIM:603903 MouseDO NCBI chr 1:174,000,305...174,076,015
Ensembl chr 1:174,000,342...174,076,016 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO protein:increased expression:plasma: RGD PMID:26928604 RGD:11062147 NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:14965870 PMID:8140855 RGD:10449460 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr16:33,775,152...33,787,408
Ensembl chr16:33,775,152...33,787,408 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16916123 NCBI chr 3:115,903,669...115,923,337
Ensembl chr 3:115,903,598...115,923,337 		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 ISO associated with sickle cell anemia; RGD PMID:23590899 RGD:10450838 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		JBrowse link
G Gstt1 glutathione S-transferase, theta 1 susceptibility ISO associated with Anemia, Sickle Cell;DNA:deletion:: (human) RGD PMID:23590899 RGD:10450838 NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418 		JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain ISO DNA:SNPs, haplotypes RGD PMID:23952145 RGD:10449047
G Hmox1 heme oxygenase 1 ISO associated with Anemia, Sickle Cell;DNA:repeat:promoter RGD PMID:22966170 RGD:10755560 NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217 		JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell susceptibility ISO 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 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472 		JBrowse link
G Vegfa vascular endothelial growth factor A susceptibility ISO 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 chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		JBrowse link
Hemoglobin SC Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb-b1 hemoglobin, beta adult major chain ISO ClinVar Annotator: match by term: Sickle cell-hemoglobin C disease ClinVar PMID:81926 PMID:909565 PMID:1301203 PMID:1376298 PMID:1680789 More...
Sickle Cell Retinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpinf1 serine (or cysteine) peptidase inhibitor, clade F, member 1 ISO protein:increased expression:retinal blood vessels (human) RGD PMID:12957143 RGD:8554869 NCBI chr11:75,300,855...75,313,449
Ensembl chr11:75,300,595...75,313,527 		JBrowse link
Sickle Cell Trait term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb-b1 hemoglobin, beta adult major chain ISO ClinVar Annotator: match by term: HEMOGLOBIN D (IBADAN) ClinVar PMID:284392 PMID:974261 PMID:1891024 PMID:5097135 PMID:5481775 More...
G Hp haptoglobin ISO RGD PMID:21595649 PMID:19023114 RGD:5147416, RGD:5147440 NCBI chr 8:110,301,760...110,305,804
Ensembl chr 8:110,301,760...110,305,804 		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 ISO associated with Anemia, Sickle Cell;DNA:deletion:: (human) RGD PMID:24840051 RGD:10450860 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		JBrowse link
G Gstt1 glutathione S-transferase, theta 1 ISO associated with Anemia, Sickle Cell;DNA:deletion:: (human) RGD PMID:23590899 RGD:10450838 NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418 		JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 susceptibility ISO associated with Anemia, Sickle Cell;DNA:promoter,exon: RGD PMID:20172753 RGD:11530044 NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087 		JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell susceptibility ISO associated with Anemia, Sickle Cell;DNA:repeats:intron: RGD PMID:25263931 RGD:11533931 NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472 		JBrowse link
G Pde9a phosphodiesterase 9A treatment IMP RGD PMID:22833547 RGD:242905184 NCBI chr17:31,605,079...31,695,284
Ensembl chr17:31,605,184...31,695,284 		JBrowse link
G Slc4a1 solute carrier family 4 (anion exchanger), member 1 ISO RGD PMID:23643401 RGD:11100023 NCBI chr11:102,239,646...102,256,107
Ensembl chr11:102,239,650...102,257,029 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16230
    physical disorder 5230
      congenital hemolytic anemia 376
        sickle cell anemia 47
          Hemoglobin SC Disease 1
          Sickle Cell Retinopathy 1
          Sickle Cell Trait 2
          Vaso-occlusive Crisis 6
          acute chest syndrome 6
Path 2
Term Annotations click to browse term
  disease 16230
    disease of anatomical entity 15849
      Hemic and Lymphatic Diseases 4275
        hematopoietic system disease 3770
          anemia 869
            normocytic anemia 764
              hemolytic anemia 444
                congenital hemolytic anemia 376
                  hemoglobinopathy 259
                    sickle cell anemia 47
                      Hemoglobin SC Disease 1
                      Sickle Cell Retinopathy 1
                      Sickle Cell Trait 2
                      Vaso-occlusive Crisis 6
                      acute chest syndrome 6
paths to the root