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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive limb-girdle muscular dystrophy
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Accession:DOID:0110274 term browser browse the term
Definition:A limb-girdle muscular dystrophy has_material_basis_in autosomal recessive inheritance. (DO)
Synonyms:exact_synonym: Limb-Girdle Muscular Dystrophy, Recessive
 primary_id: MESH:C538640
 alt_id: RDO:0004562
 xref: OMIM:PS253600;   ORDO:102015
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal recessive limb-girdle muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ano5 anoctamin 5 JBrowse link 1 106,873,580 106,971,769 RGD:8554872
G Astn2 astrotactin 2 JBrowse link 5 81,179,614 82,168,528 RGD:8554872
G Capn3 calpain 3 JBrowse link 3 112,227,486 112,278,408 RGD:8554872
G Dysf dysferlin JBrowse link 4 115,700,942 115,901,873 RGD:8554872
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:8554872
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) JBrowse link 5 135,007,343 135,017,220 RGD:8554872
G Pomt1 protein-O-mannosyltransferase 1 JBrowse link 3 11,253,424 11,271,873 RGD:8554872
G Pomt2 protein-O-mannosyltransferase 2 JBrowse link 6 111,137,329 111,176,991 RGD:11532762
RGD:8554872
G Sacs sacsin molecular chaperone JBrowse link 15 41,448,078 41,530,412 RGD:8554872
G Sgcb sarcoglycan, beta JBrowse link 14 37,113,194 37,128,623 RGD:8554872
G Sgcd sarcoglycan, delta JBrowse link 10 32,062,946 32,471,454 RGD:8554872
G Sgcg sarcoglycan, gamma JBrowse link 15 41,549,330 41,595,275 RGD:8554872
G Tcap titin-cap JBrowse link 10 86,337,705 86,338,414 RGD:8554872
G Trim32 tripartite motif-containing 32 JBrowse link 5 81,431,554 81,449,023 RGD:8554872
G Tspan1 tetraspanin 1 JBrowse link 5 135,019,206 135,032,412 RGD:8554872
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
G Uck1 uridine-cytidine kinase 1 JBrowse link 3 11,271,874 11,277,757 RGD:8554872
Autosomal Recessive Limb-Girdle Muscular Dystrophy 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lama2 laminin subunit alpha 2 JBrowse link 1 18,491,264 19,143,486 RGD:8554872
RGD:7240710
autosomal recessive limb-girdle muscular dystrophy type 2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dysf dysferlin JBrowse link 4 115,700,942 115,901,873 RGD:7240710
RGD:8554872
RGD:11554173
G Vdr vitamin D receptor JBrowse link 7 139,344,452 139,394,138 RGD:13210781
autosomal recessive limb-girdle muscular dystrophy type 2C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sacs sacsin molecular chaperone JBrowse link 15 41,448,078 41,530,412 RGD:8554872
G Sgcg sarcoglycan, gamma JBrowse link 15 41,549,330 41,595,275 RGD:7240710
RGD:8554872
RGD:13605619
autosomal recessive limb-girdle muscular dystrophy type 2D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dag1 dystroglycan 1 JBrowse link 8 116,980,501 116,993,182 RGD:11073211
G Sgca sarcoglycan, alpha JBrowse link 10 82,770,905 82,785,142 RGD:7240710
RGD:8554872
RGD:13605612
G Tuba1a tubulin, alpha 1A JBrowse link 7 140,637,287 140,640,953 RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sgcb sarcoglycan, beta JBrowse link 14 37,113,194 37,128,623 RGD:7240710
RGD:8554872
RGD:13605613
RGD:13605614
autosomal recessive limb-girdle muscular dystrophy type 2F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sgcd sarcoglycan, delta JBrowse link 10 32,062,946 32,471,454 RGD:7240710
RGD:8554872
RGD:11554173
autosomal recessive limb-girdle muscular dystrophy type 2G term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tcap titin-cap JBrowse link 10 86,337,705 86,338,414 RGD:7240710
RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2H term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Astn2 astrotactin 2 JBrowse link 5 81,179,614 82,168,528 RGD:8554872
G Trim32 tripartite motif-containing 32 JBrowse link 5 81,431,554 81,449,023 RGD:7240710
RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fkrp fukutin related protein JBrowse link 1 78,733,461 78,740,803 RGD:1598944
RGD:8554872
RGD:11063285
RGD:11667967
RGD:11667966
RGD:11667965
RGD:11667964
RGD:11667963
RGD:11667961
RGD:7240710
G Strn4 striatin 4 JBrowse link 1 78,739,930 78,765,696 RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2J term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:7240710
RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2K term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fkrp fukutin related protein JBrowse link 1 78,733,461 78,740,803 RGD:8554872
G Pomt1 protein-O-mannosyltransferase 1 JBrowse link 3 11,253,424 11,271,873 RGD:7240710
RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2L term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ano5 anoctamin 5 JBrowse link 1 106,873,580 106,971,769 RGD:7240710
RGD:8554872
RGD:11570561
RGD:11570558
RGD:11066746
G Fktn fukutin JBrowse link 5 70,522,001 70,578,270 RGD:11576328
autosomal recessive limb-girdle muscular dystrophy type 2M term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fktn fukutin JBrowse link 5 70,522,001 70,578,270 RGD:7240710
RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2N term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pomt2 protein-O-mannosyltransferase 2 JBrowse link 6 111,137,329 111,176,991 RGD:7240710
RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2O term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) JBrowse link 5 135,007,343 135,017,220 RGD:7240710
RGD:8554872
G Tspan1 tetraspanin 1 JBrowse link 5 135,019,206 135,032,412 RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2P term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dag1 dystroglycan 1 JBrowse link 8 116,980,501 116,993,182 RGD:7240710
RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2Q term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adck5 aarF domain containing kinase 5 JBrowse link 7 117,643,976 117,661,789 RGD:8554872
G Bop1 BOP1 ribosomal biogenesis factor JBrowse link 7 117,514,529 117,538,342 RGD:8554872
G Cpsf1 cleavage and polyadenylation specific factor 1 JBrowse link 7 117,661,779 117,672,373 RGD:8554872
G Cyc1 cytochrome c-1 JBrowse link 7 117,409,576 117,411,953 RGD:8554872
G Cyhr1 cysteine and histidine rich 1 JBrowse link 7 117,720,909 117,722,734 RGD:8554872
G Dgat1 diacylglycerol O-acyltransferase 1 JBrowse link 7 117,566,363 117,576,735 RGD:8554872
G Exosc4 exosome component 4 JBrowse link 7 117,390,302 117,393,044 RGD:8554872
G Fbxl6 F-box and leucine-rich repeat protein 6 JBrowse link 7 117,602,056 117,604,954 RGD:8554872
G Foxh1 forkhead box H1 JBrowse link 7 117,730,307 117,733,076 RGD:8554872
G Gpaa1 glycosylphosphatidylinositol anchor attachment 1 JBrowse link 7 117,394,367 117,397,950 RGD:8554872
G Grina glutamate ionotropic receptor NMDA type subunit associated protein 1 JBrowse link 7 117,304,742 117,307,916 RGD:8554872
G Hgh1 HGH1 homolog JBrowse link 7 117,434,419 117,437,208 RGD:8554872
G Hsf1 heat shock transcription factor 1 JBrowse link 7 117,538,523 117,565,478 RGD:8554872
G Kifc2 kinesin family member C2 JBrowse link 7 117,722,732 117,730,702 RGD:8554872
G Maf1 MAF1 homolog, negative regulator of RNA polymerase III JBrowse link 7 117,417,643 117,420,722 RGD:8554872
G Mroh1 maestro heat-like repeat family member 1 JBrowse link 7 117,445,191 117,472,418 RGD:8554872
G Oplah 5-oxoprolinase (ATP-hydrolysing) JBrowse link 7 117,353,951 117,394,205 RGD:8554872
G Parp10 poly (ADP-ribose) polymerase family, member 10 JBrowse link 7 117,291,592 117,300,878 RGD:8554872
G Plec plectin JBrowse link 7 117,230,319 117,291,859 RGD:7240710
RGD:8554872
G Scrt1 scratch family transcriptional repressor 1 JBrowse link 7 117,583,453 117,587,103 RGD:8554872
G Scx scleraxis bHLH transcription factor JBrowse link 7 117,519,075 117,521,093 RGD:8554872
G Sharpin SHANK-associated RH domain interactor JBrowse link 7 117,413,151 117,417,455 RGD:8554872
G Slc39a4 solute carrier family 39 member 4 JBrowse link 7 117,675,718 117,682,586 RGD:8554872
G Slc52a2 solute carrier family 52 member 2 JBrowse link 7 117,605,038 117,608,460 RGD:8554872
G Spatc1 spermatogenesis and centriole associated 1 JBrowse link 7 117,326,279 117,349,957 RGD:8554872
G Tmem249 transmembrane protein 249 JBrowse link 7 117,599,001 117,601,894 RGD:8554872
G Tonsl tonsoku-like, DNA repair protein JBrowse link 7 117,688,397 117,703,139 RGD:8554872
G Vps28 VPS28 subunit of ESCRT-I JBrowse link 7 117,684,339 117,688,187 RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2S term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trappc11 trafficking protein particle complex 11 JBrowse link 16 47,874,993 47,920,822 RGD:7240710
RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2T term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gmppb GDP-mannose pyrophosphorylase B JBrowse link 8 116,826,251 116,856,159 RGD:7240710
RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2U term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crppa CDP-L-ribitol pyrophosphorylase A JBrowse link 6 55,880,136 56,159,466 RGD:8554872
RGD:7240710
autosomal recessive limb-girdle muscular dystrophy type 2W term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpr17 G protein-coupled receptor 17 JBrowse link 18 24,733,306 24,739,194 RGD:8554872
G Lims2 LIM zinc finger domain containing 2 JBrowse link 18 24,707,951 24,746,159 RGD:8554872
RGD:7240710
autosomal recessive limb-girdle muscular dystrophy type 2X term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bves blood vessel epicardial substance JBrowse link 20 50,439,885 50,474,678 RGD:8554872
RGD:7240710
autosomal recessive limb-girdle muscular dystrophy type 2Y term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tor1aip1 torsin 1A interacting protein 1 JBrowse link 13 73,670,649 73,704,668 RGD:8554872
RGD:7240710
G Tor1aip2 torsin 1A interacting protein 2 JBrowse link 13 73,704,088 73,735,339 RGD:8554872
Congenital Disorder of Glycosylation Type 1O term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dpm3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory JBrowse link 2 188,583,664 188,584,179 RGD:8554872
RGD:7240710
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Capn3 calpain 3 JBrowse link 3 112,227,486 112,278,408 RGD:734687
RGD:8554872
RGD:7240710
G Pomt1 protein-O-mannosyltransferase 1 JBrowse link 3 11,253,424 11,271,873 RGD:8554872
G Sgcb sarcoglycan, beta JBrowse link 14 37,113,194 37,128,623 RGD:8554872
myofibrillar myopathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcb6 ATP binding cassette subfamily B member 6 JBrowse link 9 82,373,950 82,382,228 RGD:8554872
G Ankzf1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 JBrowse link 9 82,393,619 82,400,537 RGD:8554872
G Atg9a autophagy related 9A JBrowse link 9 82,382,800 82,393,429 RGD:8554872
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone JBrowse link 9 81,868,158 81,872,201 RGD:8554872
G Catip ciliogenesis associated TTC17 interacting protein JBrowse link 9 81,644,239 81,652,045 RGD:8554872
G Cdk5r2 cyclin-dependent kinase 5 regulatory subunit 2 JBrowse link 9 82,120,059 82,121,527 RGD:8554872
G Cfap65 cilia and flagella associated protein 65 JBrowse link 9 82,163,016 82,197,909 RGD:8554872
G Cnot9 CCR4-NOT transcription complex subunit 9 JBrowse link 9 81,783,349 81,808,815 RGD:8554872
G Cnppd1 cyclin Pas1/PHO80 domain containing 1 JBrowse link 9 82,338,865 82,345,262 RGD:8554872
G Cryba2 crystallin, beta A2 JBrowse link 9 82,151,056 82,154,266 RGD:8554872
G Ctdsp1 CTD small phosphatase 1 JBrowse link 9 81,672,613 81,677,979 RGD:8554872
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 JBrowse link 9 81,968,285 81,998,213 RGD:8554872
G Des desmin JBrowse link 9 82,556,574 82,564,288 RGD:7240710
RGD:8554872
RGD:11554173
RGD:13542086
G Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 JBrowse link 9 82,436,453 82,444,669 RGD:8554872
G Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 JBrowse link 4 2,711,329 2,774,969 RGD:8554872
G Dnpep aspartyl aminopeptidase JBrowse link 9 82,505,529 82,514,399 RGD:8554872
G Fev FEV transcription factor, ETS family member JBrowse link 9 82,142,981 82,146,855 RGD:8554872
G Glb1l galactosidase, beta 1-like JBrowse link 9 82,400,457 82,410,970 RGD:8554872
G Ihh Indian hedgehog signaling molecule JBrowse link 9 82,208,223 82,214,440 RGD:8554872
G Ldb3 LIM domain binding 3 JBrowse link 16 10,878,348 10,943,016 RGD:13592920
G Mir26b microRNA 26b JBrowse link 9 81,675,275 81,675,359 RGD:8554872
G Mir375 microRNA 375 JBrowse link 9 82,161,716 82,161,790 RGD:8554872
G Nhej1 nonhomologous end-joining factor 1 JBrowse link 9 82,230,230 82,327,923 RGD:8554872
G Plcd4 phospholipase C, delta 4 JBrowse link 9 81,816,395 81,844,364 RGD:8554872
G Pnkd PNKD metallo-beta-lactamase domain containing JBrowse link 9 81,566,074 81,634,531 RGD:8554872
G Prkag3 protein kinase AMP-activated non-catalytic subunit gamma 3 JBrowse link 9 81,999,368 82,008,620 RGD:8554872
G Ptprn protein tyrosine phosphatase, receptor type, N JBrowse link 9 82,446,626 82,462,314 RGD:8554872
G Resp18 regulated endocrine-specific protein 18 JBrowse link 9 82,470,794 82,477,136 RGD:8554872
G Retreg2 reticulophagy regulator family member 2 JBrowse link 9 82,345,686 82,351,800 RGD:8554872
G Rnf25 ring finger protein 25 JBrowse link 9 81,873,293 81,880,172 RGD:8554872
G Slc11a1 solute carrier family 11 member 1 JBrowse link 9 81,655,590 81,666,697 RGD:8554872
G Slc23a3 solute carrier family 23, member 3 JBrowse link 9 82,328,007 82,338,576 RGD:8554872
G Stk16 serine/threonine kinase 16 JBrowse link 9 82,411,010 82,414,249 RGD:8554872
G Stk36 serine/threonine kinase 36 JBrowse link 9 81,880,175 81,908,014 RGD:8554872
G Tmbim1 transmembrane BAX inhibitor motif containing 1 JBrowse link 9 81,569,289 81,586,469 RGD:8554872
G Ttll4 tubulin tyrosine ligase like 4 JBrowse link 9 81,925,363 81,961,882 RGD:8554872
G Tuba4a tubulin, alpha 4A JBrowse link 9 82,415,599 82,419,918 RGD:8554872
G Usp37 ubiquitin specific peptidase 37 JBrowse link 9 81,717,626 81,818,421 RGD:8554872
G Vil1 villin 1 JBrowse link 9 81,689,802 81,717,623 RGD:8554872
G Wnt10a Wnt family member 10A JBrowse link 9 82,053,581 82,066,047 RGD:8554872
G Wnt6 Wnt family member 6 JBrowse link 9 82,033,543 82,047,172 RGD:8554872
G Zfand2b zinc finger AN1-type containing 2B JBrowse link 9 82,370,887 82,373,843 RGD:8554872
G Zfp142 zinc finger protein 142 JBrowse link 9 81,844,138 81,868,086 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 14927
      musculoskeletal system disease 4256
        muscular disease 941
          atrophic muscular disease 277
            muscular dystrophy 275
              limb-girdle muscular dystrophy 121
                autosomal recessive limb-girdle muscular dystrophy 105
                  Autosomal Recessive Limb-Girdle Muscular Dystrophy 23 1
                  Congenital Disorder of Glycosylation Type 1O 1
                  MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1 3
                  autosomal recessive limb-girdle muscular dystrophy type 2B 2
                  autosomal recessive limb-girdle muscular dystrophy type 2C 2
                  autosomal recessive limb-girdle muscular dystrophy type 2D 3
                  autosomal recessive limb-girdle muscular dystrophy type 2E 1
                  autosomal recessive limb-girdle muscular dystrophy type 2F 1
                  autosomal recessive limb-girdle muscular dystrophy type 2G 1
                  autosomal recessive limb-girdle muscular dystrophy type 2H 2
                  autosomal recessive limb-girdle muscular dystrophy type 2I 2
                  autosomal recessive limb-girdle muscular dystrophy type 2J 1
                  autosomal recessive limb-girdle muscular dystrophy type 2K 2
                  autosomal recessive limb-girdle muscular dystrophy type 2L 2
                  autosomal recessive limb-girdle muscular dystrophy type 2M 1
                  autosomal recessive limb-girdle muscular dystrophy type 2N 1
                  autosomal recessive limb-girdle muscular dystrophy type 2O 2
                  autosomal recessive limb-girdle muscular dystrophy type 2P 1
                  autosomal recessive limb-girdle muscular dystrophy type 2Q 28
                  autosomal recessive limb-girdle muscular dystrophy type 2S 1
                  autosomal recessive limb-girdle muscular dystrophy type 2T 1
                  autosomal recessive limb-girdle muscular dystrophy type 2U 1
                  autosomal recessive limb-girdle muscular dystrophy type 2W 2
                  autosomal recessive limb-girdle muscular dystrophy type 2X 1
                  autosomal recessive limb-girdle muscular dystrophy type 2Y 2
                  myofibrillar myopathy 1 43
Path 2
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 0
      nervous system disease 10203
        peripheral nervous system disease 2112
          neuropathy 1934
            neuromuscular disease 1504
              muscular disease 941
                muscle tissue disease 668
                  myopathy 547
                    muscular dystrophy 275
                      limb-girdle muscular dystrophy 121
                        autosomal recessive limb-girdle muscular dystrophy 105
                          Autosomal Recessive Limb-Girdle Muscular Dystrophy 23 1
                          Congenital Disorder of Glycosylation Type 1O 1
                          MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1 3
                          autosomal recessive limb-girdle muscular dystrophy type 2B 2
                          autosomal recessive limb-girdle muscular dystrophy type 2C 2
                          autosomal recessive limb-girdle muscular dystrophy type 2D 3
                          autosomal recessive limb-girdle muscular dystrophy type 2E 1
                          autosomal recessive limb-girdle muscular dystrophy type 2F 1
                          autosomal recessive limb-girdle muscular dystrophy type 2G 1
                          autosomal recessive limb-girdle muscular dystrophy type 2H 2
                          autosomal recessive limb-girdle muscular dystrophy type 2I 2
                          autosomal recessive limb-girdle muscular dystrophy type 2J 1
                          autosomal recessive limb-girdle muscular dystrophy type 2K 2
                          autosomal recessive limb-girdle muscular dystrophy type 2L 2
                          autosomal recessive limb-girdle muscular dystrophy type 2M 1
                          autosomal recessive limb-girdle muscular dystrophy type 2N 1
                          autosomal recessive limb-girdle muscular dystrophy type 2O 2
                          autosomal recessive limb-girdle muscular dystrophy type 2P 1
                          autosomal recessive limb-girdle muscular dystrophy type 2Q 28
                          autosomal recessive limb-girdle muscular dystrophy type 2S 1
                          autosomal recessive limb-girdle muscular dystrophy type 2T 1
                          autosomal recessive limb-girdle muscular dystrophy type 2U 1
                          autosomal recessive limb-girdle muscular dystrophy type 2W 2
                          autosomal recessive limb-girdle muscular dystrophy type 2X 1
                          autosomal recessive limb-girdle muscular dystrophy type 2Y 2
                          myofibrillar myopathy 1 43
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.