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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 disease
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Accession:DOID:0081445 term browser browse the term
Definition:A blood protein disease that is characterized by chronic hemolytic anemia and intermittent vaso-occlusive events that result in tissue ischemia leading to acute and chronic pain as well as organ damage that can affect any organ system, resulting from the replacement of one of the beta-globin subunits in hemoglobin with atypical hemoglobin molecules called hemoglobin S which can distort red blood cells into a sickle or crescent shape. Sickle cell disease subtypes should include a detailed genotypic description for the hemoglobin molecules (e.g., Hb S/S, Hb S/C, Hb S/β0-thalassemia). (DO)
Synonyms:xref: MIM:603903

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acute chest syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmox1 heme oxygenase 1 ISO associated with Anemia, Sickle Cell;DNA:repeat:promoter RGD PMID:22966170 RGD:10755560 NCBI chrNW_004624750:341,699...346,005
Ensembl chrNW_004624750:342,146...345,887 		JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility ISO associated with Anemia, Sickle Cell;DNA:polymorphism: :-786T>C(human)
associated with Anemia, Sickle Cell;DNA:repeats:intron:		 RGD PMID:14687036 PMID:25263931 RGD:11533931 RGD:11533934 NCBI chrNW_004624800:5,600,215...5,619,020
Ensembl chrNW_004624800:5,600,212...5,619,004 		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:22925497 PMID:25130874 RGD:11075233 RGD:11075235 NCBI chrNW_004624754:15,929,414...15,943,637 JBrowse link
sickle cell anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alad aminolevulinate dehydratase ISO protein:increased activity:erythrocyte RGD PMID:900140 RGD:12904674 NCBI chrNW_004624760:21,698,689...21,709,907
Ensembl chrNW_004624760:21,698,587...21,711,822 		JBrowse link
G Apob apolipoprotein B treatment ISO RGD PMID:24035168 RGD:11354943 NCBI chrNW_004624738:3,579,747...3,622,508
Ensembl chrNW_004624738:3,580,033...3,620,192 		JBrowse link
G Bcl11a BCL11 transcription factor A severity
treatment		 ISO DNA:snp, haplotype:intron:c.386-24983T>C (rs4671393) (human) RGD PMID:18667698 PMID:21998251 PMID:22360576 RGD:11099970 RGD:11099996 RGD:11100007 NCBI chrNW_004624833:1,367,878...1,468,257
Ensembl chrNW_004624833:1,367,781...1,468,400 		JBrowse link
G C3 complement C3 severity ISO protein:increased processing RGD PMID:3896597 PMID:7554454 RGD:11040773 RGD:11040777 NCBI chrNW_004624828:3,773,816...3,798,077
Ensembl chrNW_004624828:3,770,221...3,797,946 		JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chrNW_004624738:9,318,213...9,340,765
Ensembl chrNW_004624738:9,318,232...9,340,925 		JBrowse link
G Cd36 CD36 molecule (CD36 blood group) treatment ISO protein:increased expression:erythrocyte RGD PMID:18322255 PMID:20015873 RGD:11041114 RGD:6893506 NCBI chrNW_004624739:29,341,620...29,441,232
Ensembl chrNW_004624739:29,407,568...29,441,333 		JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:plasma (human) RGD PMID:24368019 RGD:11352270 NCBI chrNW_004624808:10,472,028...10,484,407
Ensembl chrNW_004624808:10,472,572...10,484,338 		JBrowse link
G Cfb complement factor B ISO protein:decreased activity RGD PMID:10440069 PMID:12793071 RGD:11041159 RGD:11041160 NCBI chrNW_004624754:24,310,344...24,316,482
Ensembl chrNW_004624754:24,310,247...24,317,366 		JBrowse link
G Dhodh dihydroorotate dehydrogenase (quinone) ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chrNW_004624746:14,254,811...14,268,034
Ensembl chrNW_004624746:14,254,193...14,268,034 		JBrowse link
G F2 coagulation factor II, thrombin disease_progression ISO protein:increased expression:plasma: RGD PMID:8191393 PMID:26286849 RGD:11565074 RGD:11565080 NCBI chrNW_004624767:1,876,974...1,887,720
Ensembl chrNW_004624767:1,877,024...1,887,958 		JBrowse link
G F3 coagulation factor III, tissue factor ISO protein:increased expression:plasma RGD PMID:15795541 RGD:11341683 NCBI chrNW_004624742:3,112,827...3,123,424
Ensembl chrNW_004624742:3,112,801...3,124,301 		JBrowse link
G Gch1 GTP cyclohydrolase 1 sexual_dimorphism ISO DNA:SNP, haplotype:rs8007267 (human) RGD PMID:24136375 RGD:329961567 NCBI chrNW_004624731:14,459,164...14,502,485
Ensembl chrNW_004624731:14,459,303...14,500,429 		JBrowse link
G Gpx1 glutathione peroxidase 1 treatment ISO protein:decreased expression:penis RGD PMID:19951064 PMID:20846340 PMID:22620981 RGD:11352756 RGD:11352757 RGD:11352775 NCBI chrNW_004624730:3,313,773...3,314,870
Ensembl chrNW_004624730:3,313,972...3,314,626 		JBrowse link
G Gsr glutathione-disulfide reductase ISO protein:increased activity:erythrocyte: RGD PMID:14717789 RGD:11059503 NCBI chrNW_004624780:13,440,269...13,497,435
Ensembl chrNW_004624780:13,440,235...13,496,535 		JBrowse link
G Hk1 hexokinase 1 ISO protein:alternative form:erythrocyte RGD PMID:5686464 RGD:11353884 NCBI chrNW_004624754:3,594,478...3,656,231
Ensembl chrNW_004624754:3,591,090...3,659,760 		JBrowse link
G Hmbs hydroxymethylbilane synthase ISO protein:increased activity:erythrocyte RGD PMID:900140 RGD:12904674 NCBI chrNW_004624784:14,467,515...14,474,954
Ensembl chrNW_004624784:14,467,533...14,474,954 		JBrowse link
G Hmox1 heme oxygenase 1 treatment ISO RGD PMID:11238038 PMID:20306336 RGD:10755563 RGD:10755565 NCBI chrNW_004624750:341,699...346,005
Ensembl chrNW_004624750:342,146...345,887 		JBrowse link
G Il10 interleukin 10 treatment ISO RGD PMID:24281564 RGD:11046271 NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732 		JBrowse link
G Il5 interleukin 5 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:25843670 RGD:11354938 NCBI chrNW_004624733:39,544,487...39,558,943
Ensembl chrNW_004624733:39,556,797...39,559,119 		JBrowse link
G LOC101703821 HLA class II histocompatibility antigen, DQ beta 1 chain ISO DNA:polymorphism, haplotype RGD PMID:19254255 RGD:11041761 NCBI chrNW_004624754:23,895,509...23,902,487
Ensembl chrNW_004624754:23,895,607...23,906,713 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase no_association
severity		 ISO DNA:SNP: :1298A>C (human)
DNA:SNP: :677C>T (human)		 RGD PMID:20113291 PMID:22924497 RGD:10449403 RGD:10449420 NCBI chrNW_004624818:1,184,736...1,202,708
Ensembl chrNW_004624818:1,187,869...1,199,168 		JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29255069 NCBI chrNW_004624787:14,355,330...14,381,353
Ensembl chrNW_004624787:14,355,791...14,381,251 		JBrowse link
G Nos3 nitric oxide synthase 3 severity ISO DNA:polymorphisms,haplotype:intron,cds:894G>T, -786T>C(human) RGD PMID:24088668 RGD:11533647 NCBI chrNW_004624800:5,600,215...5,619,020
Ensembl chrNW_004624800:5,600,212...5,619,004 		JBrowse link
G Nppb natriuretic peptide B severity ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:20408845 PMID:21689089 RGD:5685653 NCBI chrNW_004624818:1,139,776...1,141,010 JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 severity ISO protein:increased expression:serum (human) RGD PMID:20306667 RGD:11541101 NCBI chrNW_004624870:33,293...122,536 JBrowse link
G Pgf placental growth factor ISO protein:increased expression:plasma RGD PMID:20040765 RGD:6483588 NCBI chrNW_004624734:26,751,986...26,764,154
Ensembl chrNW_004624734:26,751,530...26,764,242 		JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased activity: serum (human) RGD PMID:24508012 RGD:11553835 NCBI chrNW_004624813:1,953,796...1,979,846
Ensembl chrNW_004624813:1,949,614...1,979,882 		JBrowse link
G Selp selectin P ISO RGD PMID:21071696 RGD:6219007 NCBI chrNW_004624826:7,510,039...7,544,332
Ensembl chrNW_004624826:7,511,646...7,537,924 		JBrowse link
G Spta1 spectrin alpha, erythrocytic 1 ISO OMIM:603903 MouseDO NCBI chrNW_004624794:2,638,605...2,715,934
Ensembl chrNW_004624794:2,639,039...2,714,591 		JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO protein:increased expression:plasma: RGD PMID:26928604 RGD:11062147 NCBI chrNW_004624907:162,567...175,696
Ensembl chrNW_004624907:161,569...176,605 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:8140855 PMID:14965870 RGD:10449460 NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531 		JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chrNW_004624731:761,235...780,355
Ensembl chrNW_004624731:761,210...779,321 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16916123 NCBI chrNW_004624857:3,606,573...3,625,991
Ensembl chrNW_004624857:3,606,431...3,627,063 		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 ISO protein:increased expression:retinal blood vessels (human) RGD PMID:12957143 RGD:8554869 NCBI chrNW_004624786:4,487,005...4,497,706
Ensembl chrNW_004624786:4,486,978...4,497,585 		JBrowse link
Vaso-occlusive Crisis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mbl2 mannose binding lectin 2 susceptibility ISO associated with Anemia, Sickle Cell;DNA:promoter,exon: RGD PMID:20172753 RGD:11530044 NCBI chrNW_004624791:10,881,319...10,886,294
Ensembl chrNW_004624791:10,881,268...10,886,297 		JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility ISO associated with Anemia, Sickle Cell;DNA:repeats:intron: RGD PMID:25263931 RGD:11533931 NCBI chrNW_004624800:5,600,215...5,619,020
Ensembl chrNW_004624800:5,600,212...5,619,004 		JBrowse link
G Pde9a phosphodiesterase 9A treatment ISO RGD PMID:22833547 RGD:242905184 NCBI chrNW_004624745:27,834,814...27,919,264
Ensembl chrNW_004624745:27,839,682...27,919,299 		JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO RGD PMID:23643401 RGD:11100023 NCBI chrNW_004624795:739,821...752,773
Ensembl chrNW_004624795:743,646...752,103 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14179
    disease of anatomical entity 13852
      hematopoietic system disease 3084
        blood protein disease 613
          sickle cell disease 38
            sickle cell anemia + 38
Path 2
Term Annotations click to browse term
  disease 14179
    disease of anatomical entity 13852
      Hemic and Lymphatic Diseases 3536
        hematopoietic system disease 3084
          blood protein disease 613
            sickle cell disease 38
              sickle cell anemia + 38
paths to the root