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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:iris disease
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Accession:DOID:240 term browser browse the term
Definition:Diseases, dysfunctions, or disorders of or located in the iris.
Synonyms:exact_synonym: Iris Diseases
 primary_id: MESH:D007499;   RDO:0000707
 xref: NCI:C34737
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
aniridia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALPK1 alpha kinase 1 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 8:110,241,220...110,368,001
Ensembl chr 8:110,241,619...110,367,993
JBrowse link
G ANK2 ankyrin 2 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 8:109,306,793...109,661,970 JBrowse link
G AP1AR adaptor related protein complex 1 associated regulatory protein ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 8:110,386,145...110,420,548
Ensembl chr 8:110,386,776...110,505,320
JBrowse link
G ARSJ arylsulfatase family member J ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 8:108,710,636...108,804,846
Ensembl chr 8:108,726,113...108,803,559
JBrowse link
G CAMK2D calcium/calmodulin dependent protein kinase II delta ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 8:108,916,019...109,221,317
Ensembl chr 8:108,710,660...109,228,901
JBrowse link
G DNAJC24 DnaJ heat shock protein family (Hsp40) member C24 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 2:29,305,688...29,365,244
Ensembl chr 2:29,305,417...29,365,184
JBrowse link
G ELP4 elongator acetyltransferase complex subunit 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital aniridia
ClinVar Annotator: match by term: Aniridia
CTD
ClinVar
NCBI chr 2:29,006,456...29,230,092
Ensembl chr 2:29,004,986...29,230,077
JBrowse link
G FAM241A family with sequence similarity 241 member A ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 8:110,468,450...110,504,828
Ensembl chr 8:110,386,776...110,505,320
JBrowse link
G FOXC1 forkhead box C1 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 7:837,088...840,593
Ensembl chr 7:837,171...838,805
JBrowse link
G GLIS3 GLIS family zinc finger 3 ISO ClinVar Annotator: match by term: Aniridia ClinVar PMID:26893459 NCBI chr 1:217,572,604...218,117,629
Ensembl chr 1:217,629,331...218,117,267
JBrowse link
G GMDS GDP-mannose 4,6-dehydratase ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 7:849,088...1,285,563
Ensembl chr 7:752,239...1,285,550
JBrowse link
G IMMP1L inner mitochondrial membrane peptidase subunit 1 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 2:29,230,172...29,305,906
Ensembl chr 2:29,230,225...29,307,231
JBrowse link
G KIF21A kinesin family member 21A ISO ClinVar Annotator: match by term: Aniridia ClinVar PMID:26893459 NCBI chr 5:70,888,999...71,029,832
Ensembl chr 5:70,888,999...71,029,809
JBrowse link
G LARP7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 8:110,069,565...110,089,789
Ensembl chr 8:110,069,829...110,089,708
JBrowse link
G LOC100517025 uncharacterized LOC100517025 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 2:29,365,181...29,796,389 JBrowse link
G NEUROG2 neurogenin 2 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 8:110,200,681...110,206,081
Ensembl chr 8:110,201,161...110,201,979
JBrowse link
G PAX6 paired box 6 susceptibility ISO ClinVar Annotator: match by term: Absent iris
ClinVar Annotator: match by term: Congenital aniridia
ClinVar Annotator: match by term: Aniridia
ClinVar Annotator: match by term: Aniridia, atypical
DNA:snps, nonsense mutation:introns, cds:IVS5a+1G>A, IVS8-1G>A, p.Q215X (mouse)
associated with Nystagmus, Congenital;DNA:insertion:exon:c.888insA(human)
DNA:frameshift mutation:cds:p.P418SfsX87 (human)
DNA:deletion:cds:p.R38PfsX12 (human)
associated with Cataract;DNA:nonsense mutation:cds:p.R103X (human)
DNA:deletions:cds:c.170-174delTGGGC, c.475delC (human)
DNA:deletion:cds:p.Q297HfsX68 (human)
DNA:deletion, snp:cds:p.R38GfsX16, p.S121L (human)
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation:cds:p.R240X (human)
DNA:mutations:exon, intron:multiple (human)
RGD
ClinVar
CTD
PMID:9138149, PMID:9931324, PMID:16080917, PMID:16303964, PMID:17417613, PMID:18322702, PMID:18776953, PMID:19862335, PMID:20664694, PMID:22171157, PMID:22393272, PMID:22550392, PMID:22815628, PMID:23734086, PMID:25366758, PMID:25741868, PMID:30221735 RGD:12790966, RGD:1601209, RGD:8551856, RGD:8551858, RGD:8551859, RGD:8551860, RGD:8551870, RGD:8551879, RGD:8552246, RGD:8552277, RGD:8552301 NCBI chr 2:28,971,565...29,001,149
Ensembl chr 2:28,971,567...29,001,200
JBrowse link
G SOX2 SRY-box transcription factor 2 ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr13:119,668,476...119,669,435 JBrowse link
G TIFA TRAF interacting protein with forkhead associated domain ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 8:110,377,817...110,394,190
Ensembl chr 8:110,377,517...110,389,604
JBrowse link
G TRIM44 tripartite motif containing 44 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:25,275,193...25,378,738
Ensembl chr 2:25,247,505...25,378,565
JBrowse link
G WT1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:28,411,467...28,456,007
Ensembl chr 2:28,411,794...28,456,003
JBrowse link
G ZGRF1 zinc finger GRF-type containing 1 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 8:110,089,920...110,168,086
Ensembl chr 8:110,089,984...110,168,353
JBrowse link
Aniridia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNAJC24 DnaJ heat shock protein family (Hsp40) member C24 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978, PMID:11284764, PMID:17630404, PMID:24138039, PMID:26661695, PMID:27124303, PMID:28492532 NCBI chr 2:29,305,688...29,365,244
Ensembl chr 2:29,305,417...29,365,184
JBrowse link
G ELP4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978, PMID:11284764, PMID:11309364, PMID:11431688, PMID:12552561, PMID:12731001, PMID:16098226, PMID:17630404, PMID:18483559, PMID:24138039, PMID:24290376, PMID:25741868, PMID:26661695, PMID:27124303, PMID:27431685, PMID:28321846, PMID:28492532, PMID:29618921 NCBI chr 2:29,006,456...29,230,092
Ensembl chr 2:29,004,986...29,230,077
JBrowse link
G IMMP1L inner mitochondrial membrane peptidase subunit 1 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978, PMID:11284764, PMID:17630404, PMID:24138039, PMID:26661695, PMID:27124303, PMID:28492532 NCBI chr 2:29,230,172...29,305,906
Ensembl chr 2:29,230,225...29,307,231
JBrowse link
G LOC100517025 uncharacterized LOC100517025 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978, PMID:11284764, PMID:17630404, PMID:24138039, PMID:26661695, PMID:27124303, PMID:28492532 NCBI chr 2:29,365,181...29,796,389 JBrowse link
G PAX6 paired box 6 ISO OMIM NCBI chr 2:28,971,565...29,001,149
Ensembl chr 2:28,971,567...29,001,200
JBrowse link
G RCN1 reticulocalbin 1 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:17630404, PMID:24138039, PMID:26661695, PMID:27124303, PMID:28492532 NCBI chr 2:28,696,528...28,714,083 JBrowse link
G WT1 WT1 transcription factor ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:8975729, PMID:9090524, PMID:17630404, PMID:23349334, PMID:24138039, PMID:25741868, PMID:26661695, PMID:27124303, PMID:28492532 NCBI chr 2:28,411,467...28,456,007
Ensembl chr 2:28,411,794...28,456,003
JBrowse link
Aniridia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELP4 elongator acetyltransferase complex subunit 4 ISO OMIM NCBI chr 2:29,006,456...29,230,092
Ensembl chr 2:29,004,986...29,230,077
JBrowse link
Aniridia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRIM44 tripartite motif containing 44 ISO OMIM NCBI chr 2:25,275,193...25,378,738
Ensembl chr 2:25,247,505...25,378,565
JBrowse link
anterior segment dysgenesis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXC1 forkhead box C1 ISO OMIM NCBI chr 7:837,088...840,593
Ensembl chr 7:837,171...838,805
JBrowse link
anterior segment dysgenesis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PITX2 paired like homeodomain 2 ISO OMIM NCBI chr 8:111,697,364...111,723,295
Ensembl chr 8:111,698,664...111,723,298
JBrowse link
Chromosome 11p Deletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELP4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: 11p deletion syndrome ClinVar NCBI chr 2:29,006,456...29,230,092
Ensembl chr 2:29,004,986...29,230,077
JBrowse link
G PAX6 paired box 6 ISO ClinVar Annotator: match by term: 11p deletion syndrome ClinVar PMID:9727514, PMID:12868034, PMID:15086958, PMID:17417613, PMID:18776953, PMID:25741868, PMID:28492532 NCBI chr 2:28,971,565...29,001,149
Ensembl chr 2:28,971,567...29,001,200
JBrowse link
EDICT Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MIR184 microRNA mir-184 ISO OMIM NCBI chr 7:48,345,017...48,345,099
Ensembl chr 7:48,345,017...48,345,099
JBrowse link
exfoliation syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGPAT1 1-acylglycerol-3-phosphate O-acyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28553957 NCBI chr 7:24,205,930...24,208,430
Ensembl chr 7:24,204,902...24,213,193
JBrowse link
G APOE apolipoprotein E susceptibility ISO DNA:polymorphism:exon: RGD PMID:15939044 RGD:7771555 NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,259...51,377,794
JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25706626 NCBI chr 2:65,491,784...65,871,068 JBrowse link
G CAV1 caveolin 1 no_association ISO DNA:SNP:promoter:rs4236601 (human) RGD PMID:20835238 RGD:8661783 NCBI chr18:29,648,120...29,682,451
Ensembl chr18:29,649,992...29,682,465
JBrowse link
G CLU clusterin no_association ISO DNA:SNP:intron:rs2279590 (human)
DNA:SNPs, haplotype: :multiple
RGD PMID:16639006, PMID:18806885, PMID:19182256, PMID:25057782 RGD:8699505, RGD:8699516, RGD:8887372, RGD:9068391 NCBI chr14:11,336,585...11,352,569
Ensembl chr14:11,336,590...11,352,475
JBrowse link
G EDN1 endothelin 1 ISO associated with Cataract;protein:increased expression:aqueous humor (human) RGD PMID:15031170 RGD:8661674 NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348
JBrowse link
G ELN elastin ISO RGD PMID:7777294 RGD:9585736 NCBI chr 3:11,214,194...11,245,891
Ensembl chr 3:11,214,073...11,244,897
JBrowse link
G LOXL1 lysyl oxidase like 1 susceptibility
no_association
ISO ClinVar Annotator: match by term: Exfoliation syndrome, susceptibility to
DNA:SNP: :multiple
DNA:SNP: :p.R141L (rs1048661) (human)
DNA:SNPs:exon:p.R141L, p.G153D (human)
DNA:SNP:exon:rs1048661, rs3825942 (human)
DNA:CNVs
CTD Direct Evidence: marker/mechanism
DNA:SNP, haplotypes:promoter:multiple
DNA:SNP, haplotypes: :rs1048661, rs3825942 (human)
OMIM
ClinVar
RGD
CTD
PMID:17690259, PMID:18037624, PMID:19029039, PMID:19343041, PMID:19373106, PMID:19503743, PMID:21212179, PMID:21320968, PMID:21740868, PMID:22605916, PMID:23288989, PMID:23378724, PMID:25706626, PMID:28553957 RGD:7387325, RGD:7387326, RGD:7387327, RGD:7387328, RGD:7387329, RGD:7387331, RGD:7387332, RGD:7387333, RGD:7394726 NCBI chr 7:59,481,410...59,505,161
Ensembl chr 7:59,481,412...59,505,149
JBrowse link
G LTBP2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Pseudoexfoliation glaucoma ClinVar PMID:23401661, PMID:28492532 NCBI chr 7:97,744,974...97,852,848
Ensembl chr 7:97,745,396...97,852,502
JBrowse link
G MMP1 matrix metallopeptidase 1 no_association ISO DNA:insertion:promoter:g.-1607insG rs1799750 (human) RGD PMID:20808730 RGD:8549725 NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,454,000
JBrowse link
G MMP9 matrix metallopeptidase 9 no_association ISO DNA:insertion: :p.Q279R (rs17576) (human) RGD PMID:20808730 RGD:8549725 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,175,056...48,188,264
JBrowse link
G OPTN optineurin no_association ISO DNA:polymorphism: :p.M98K (human) RGD PMID:16020311 RGD:6480509 NCBI chr10:48,532,029...48,582,952
Ensembl chr10:48,530,844...48,582,910
JBrowse link
G POMP proteasome maturation protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28553957 NCBI chr11:5,953,691...5,968,447
Ensembl chr11:5,953,743...5,975,260
JBrowse link
G PON1 paraoxonase 1 ISO protein:decreased expression:serum (human) RGD PMID:19628957 RGD:8547685 NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,724
JBrowse link
G RBMS3 RNA binding motif single stranded interacting protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28553957 NCBI chr13:14,968,921...16,458,470
Ensembl chr13:15,711,425...16,462,750
JBrowse link
G SOD2 superoxide dismutase 2 ISO associated with glaucoma,primary open angle; mRNA:increased expression: ciliary body, iris:
associated with cataract;mRNA:increased expression:lens epithelium:
RGD PMID:18055805, PMID:23805041 RGD:7794853, RGD:8158048 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,651,280...7,691,723
JBrowse link
G TLCD5 TLC domain containing 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28553957 NCBI chr 9:47,464,840...47,472,819
Ensembl chr 9:47,464,905...47,472,786
JBrowse link
G TLR4 toll like receptor 4 susceptibility ISO DNA:haplotype:: RGD PMID:22831837 RGD:7794768 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,059,004
JBrowse link
Gillespie syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 ISO OMIM NCBI chr13:61,068,131...61,398,918
Ensembl chr13:61,068,126...61,398,908
JBrowse link
Heterochromia Iridis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA2 actin alpha 2, smooth muscle ISO ClinVar Annotator: match by term: Heterochromia iridis ClinVar PMID:30311386 NCBI chr14:100,868,145...100,886,732
Ensembl chr14:100,867,733...100,886,713
JBrowse link
G HINT1 histidine triad nucleotide binding protein 1 ISO ClinVar Annotator: match by term: Heterochromia iridis ClinVar PMID:22961002, PMID:25342199, PMID:26182879, PMID:27549087, PMID:28492532, PMID:30311386 NCBI chr 2:133,469,765...133,475,813
Ensembl chr 2:133,467,137...133,475,734
JBrowse link
G MITF melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Heterochromia iridis ClinVar PMID:8659547, PMID:9856573, PMID:25741868, PMID:30311386 NCBI chr13:51,177,356...51,422,096
Ensembl chr13:51,178,203...51,422,096
JBrowse link
G SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Heterochromia iridis ClinVar PMID:25795793, PMID:26173643, PMID:28492532, PMID:29493581, PMID:30311386 NCBI chr 1:179,907,578...180,014,941
Ensembl chr 1:179,907,590...180,015,220
JBrowse link
iridocyclitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO DNA:polymorphism: :-318C>T,(AT)16(human) RGD PMID:17287608 RGD:7421512 NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,926...107,289,103
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO DNA:SNP:exon:p.R241G (human) RGD PMID:20445114 RGD:8547694 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
JBrowse link
G IL1A interleukin 1 alpha ISO associated with Arthritis, Juvenile;DNA:SNP:promoter:-889C>T (human) RGD PMID:8162643 RGD:7794716 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119
JBrowse link
iridogoniodysgenesis syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PITX2 paired like homeodomain 2 ISO ClinVar Annotator: match by term: Iridogoniodysgenesis syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chr 8:111,697,364...111,723,295
Ensembl chr 8:111,698,664...111,723,298
JBrowse link
WAGR syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELP4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
ClinVar Annotator: match by term: 11p partial monosomy syndrome
ClinVar NCBI chr 2:29,006,456...29,230,092
Ensembl chr 2:29,004,986...29,230,077
JBrowse link
G PAX6 paired box 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
ClinVar Annotator: match by term: 11p partial monosomy syndrome
CTD
ClinVar
PMID:9727514, PMID:12868034, PMID:15086958, PMID:17417613, PMID:18776953, PMID:25741868, PMID:28492532 NCBI chr 2:28,971,565...29,001,149
Ensembl chr 2:28,971,567...29,001,200
JBrowse link
G WT1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
CTD
ClinVar
NCBI chr 2:28,411,467...28,456,007
Ensembl chr 2:28,411,794...28,456,003
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12641
    sensory system disease 4799
      eye disease 2511
        uveal disease 205
          iris disease 51
            De Hauwere Leroy Adriaenssens syndrome 0
            EDICT Syndrome 1
            Heterochromia Iridis 4
            Iridocorneal Endothelial Syndrome + 0
            Iris Hypoplasia and Glaucoma 0
            Iris Neoplasms + 0
            aniridia + 24
            ciliary body disease + 0
            exfoliation syndrome 18
            iridocyclitis + 3
            iridogoniodysgenesis syndrome + 2
            iritis 0
Path 2
Term Annotations click to browse term
  disease 12641
    disease of anatomical entity 12177
      nervous system disease 9943
        sensory system disease 4799
          eye disease 2511
            uveal disease 205
              iris disease 51
                De Hauwere Leroy Adriaenssens syndrome 0
                EDICT Syndrome 1
                Heterochromia Iridis 4
                Iridocorneal Endothelial Syndrome + 0
                Iris Hypoplasia and Glaucoma 0
                Iris Neoplasms + 0
                aniridia + 24
                ciliary body disease + 0
                exfoliation syndrome 18
                iridocyclitis + 3
                iridogoniodysgenesis syndrome + 2
                iritis 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.