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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:Diamond-Blackfan anemia
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Accession:DOID:1339 term browser browse the term
Definition:A congenital hypoplastic anemia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis_insufficient levels of red blood cells due to bone marrow dysfunction. (DO)
Synonyms:exact_synonym: Aase syndrome;   BDS;   Blackfan Diamond disease;   Blackfan Diamond syndrome;   Congenital Erythroid Hypoplastic Anemia;   DBA;   Diamond-Blackfan type anemia;   chronic congenital agenerative anemia;   chronic congenital aregenerative anemia;   chronic constitutional pure red cell anaemia;   congenital hypoplastic anemia of Blackfan and Diamond;   congenital pure red cell anemia;   congenital pure red cell aplasia;   erythrogenesis imperfecta;   erythrogenesis imperfectas;   inherited erythroblastopenia;   pure hereditary red cell aplasia
 primary_id: MESH:D029503
 xref: GARD:6274;   NCI:C61236;   OMIM:PS105650;   ORDO:124
For additional species annotation, visit the Alliance of Genome Resources.


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Diamond-Blackfan anemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALOX12B arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:32,899,416...32,911,442
Ensembl chr 5:32,896,238...32,911,552
JBrowse link
G ALOX15B arachidonate 15-lipoxygenase type B ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:32,878,348...32,888,253
Ensembl chr 5:32,878,338...32,888,316
JBrowse link
G ALOXE3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:32,917,681...32,941,470
Ensembl chr 5:32,918,065...32,941,752
JBrowse link
G ARHGEF15 Rho guanine nucleotide exchange factor 15 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:33,096,108...33,110,551
Ensembl chr 5:33,098,159...33,121,083
JBrowse link
G AURKB aurora kinase B ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:33,014,098...33,028,951
Ensembl chr 5:33,014,102...33,033,948
JBrowse link
G BORCS6 BLOC-1 related complex subunit 6 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:33,002,458...33,004,555
Ensembl chr 5:33,003,149...33,004,204
JBrowse link
G CHD3 chromodomain helicase DNA binding protein 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:32,747,341...32,768,114
Ensembl chr 5:32,747,397...32,766,965
JBrowse link
G CNTROB centrobin, centriole duplication and spindle assembly protein ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:32,777,242...32,811,747
Ensembl chr 5:32,777,341...32,811,518
JBrowse link
G CTC1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:33,033,474...33,055,004
Ensembl chr 5:33,033,596...33,055,142
JBrowse link
G CYB5D1 cytochrome b5 domain containing 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:32,714,130...32,721,719 JBrowse link
G DIPK1A divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:16199547 PMID:19061985 PMID:19773262 PMID:20960466 PMID:22689679 More... NCBI chr 6:56,134,770...56,206,943
Ensembl chr 6:56,174,719...56,205,741
JBrowse link
G DNAH2 dynein axonemal heavy chain 2 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:32,600,902...32,688,560
Ensembl chr 5:32,602,553...32,688,559
JBrowse link
G EFNB3 ephrin B3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:32,588,062...32,592,390
Ensembl chr 5:32,574,134...32,594,333
JBrowse link
G GATA1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:871527 PMID:12200364 PMID:14691578 PMID:16199547 PMID:16783379 More... NCBI chr  X:41,991,321...41,998,319
Ensembl chr  X:41,971,582...41,998,303
JBrowse link
G GLOD5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr  X:41,967,674...41,979,241
Ensembl chr  X:41,967,812...41,979,243
JBrowse link
G GUCY2D guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:32,844,033...32,859,263
Ensembl chr 5:32,844,033...32,857,687
JBrowse link
G HES7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:32,944,351...32,950,433
Ensembl chr 5:32,944,037...32,947,591
JBrowse link
G KCNAB3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:32,777,435...32,783,619
Ensembl chr 5:32,777,791...32,783,611
JBrowse link
G KDM6B lysine demethylase 6B ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:32,689,000...32,711,026
Ensembl chr 5:32,696,211...32,710,666
JBrowse link
G KLF1 Kruppel like factor 1 ISO mRNA:decreased expression:bone marrow, blood RGD PMID:22965552 RGD:10769343 NCBI chr20:49,295,097...49,298,668
Ensembl chr20:49,295,195...49,298,602
JBrowse link
G KRBA2 KRAB-A domain containing 2 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:33,144,223...33,151,175
Ensembl chr 5:33,147,045...33,150,779
JBrowse link
G NAA38 N-alpha-acetyltransferase 38, NatC auxiliary subunit ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:32,712,799...32,714,493
Ensembl chr 5:32,712,805...32,713,600
JBrowse link
G ODF4 outer dense fiber of sperm tails 4 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:33,118,401...33,121,979
Ensembl chr 5:33,120,604...33,121,945
JBrowse link
G PER1 period circadian regulator 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:32,957,517...32,972,368
Ensembl chr 5:32,957,127...32,968,465
JBrowse link
G PFAS phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:33,055,144...33,076,823
Ensembl chr 5:33,060,929...33,076,287
JBrowse link
G POLR3A RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22855961 PMID:25741868 PMID:27029625 NCBI chr 4:27,834,197...27,883,065
Ensembl chr 4:27,835,612...27,883,436
JBrowse link
G RANGRF RAN guanine nucleotide release factor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:33,084,355...33,085,810
Ensembl chr 5:33,084,397...33,085,812
JBrowse link
G RNF227 ring finger protein 227 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532
G RPL11 ribosomal protein L11 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:16199547 PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 2:75,781,210...75,785,614
Ensembl chr 2:75,781,091...75,785,605
JBrowse link
G RPL26 ribosomal protein L26 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:33,152,114...33,158,237
Ensembl chr 5:33,152,113...33,158,302
JBrowse link
G RPL5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:16199547 PMID:19061985 PMID:19773262 PMID:20378560 PMID:20960466 More... NCBI chr 6:56,207,171...56,216,030
Ensembl chr 6:56,207,173...56,215,956
JBrowse link
G RPS10 ribosomal protein S10 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:20116044 PMID:20159986 More... NCBI chr12:3,713,984...3,720,149
Ensembl chr12:3,713,980...3,719,780
JBrowse link
G RPS17 ribosomal protein S17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17647292 NCBI chr 3:54,400,519...54,403,203
Ensembl chr 3:54,312,195...54,406,452
JBrowse link
G RPS19 ribosomal protein S19 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:9988267 PMID:10590074 PMID:10598818 PMID:10753603 PMID:11112378 More... RGD:1599571 RGD:1599572 NCBI chr 1:112,418,800...112,427,445
Ensembl chr 1:112,411,281...112,427,381
JBrowse link
G RPS20 ribosomal protein S20 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:25741868 PMID:32790018 NCBI chr29:7,488,481...7,489,850 JBrowse link
G RPS24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:17186470 PMID:19689926 PMID:22855961 PMID:25741868 PMID:27029625 More... NCBI chr 4:27,886,872...27,893,145
Ensembl chr 4:27,877,075...27,908,806
JBrowse link
G RPS7 ribosomal protein S7 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr17:2,139,011...2,143,160
Ensembl chr17:2,138,779...2,143,178
JBrowse link
G SLC25A35 solute carrier family 25 member 35 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:33,085,781...33,089,379
Ensembl chr 5:33,085,537...33,089,021
JBrowse link
G SUV39H1 SUV39H1 histone lysine methyltransferase ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr  X:41,894,623...41,907,854
Ensembl chr  X:41,893,045...41,906,403
JBrowse link
G TMEM107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:32,991,000...32,993,319
Ensembl chr 5:32,991,021...32,993,248
JBrowse link
G TMEM88 transmembrane protein 88 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:32,711,289...32,712,281
Ensembl chr 5:32,711,305...32,712,108
JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 PMID:30146126 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
JBrowse link
G TRAPPC1 trafficking protein particle complex subunit 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:32,784,577...32,786,060
Ensembl chr 5:32,784,846...32,786,163
JBrowse link
G VAMP2 vesicle associated membrane protein 2 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:32,975,372...32,977,967 JBrowse link
G WAS WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr  X:41,882,240...41,890,053
Ensembl chr  X:41,882,875...41,890,058
JBrowse link
G WRAP53 WD repeat containing antisense to TP53 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:32,574,153...32,586,222
Ensembl chr 5:32,574,134...32,594,333
JBrowse link
G ZNF699 zinc finger protein 699 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:25741868 NCBI chr20:51,361,483...51,376,795
Ensembl chr20:51,365,371...51,372,232
JBrowse link
Diamond Blackfan anemia 15 with mandibulofacial dysostosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPS26 ribosomal protein S26 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ClinVar PMID:17483715 PMID:19816270 PMID:20116044 PMID:23718193 PMID:24942156 More... NCBI chr10:362,699...364,406
Ensembl chr10:362,694...364,420
JBrowse link
G RPS28 ribosomal protein S28 ISO OMIM NCBI chr20:52,901,953...52,903,244
Ensembl chr20:52,902,031...52,903,244
JBrowse link
G TSR2 TSR2 ribosome maturation factor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ClinVar PMID:11424144 PMID:24942156 NCBI chr  X:46,189,810...46,194,949
Ensembl chr  X:46,189,870...46,296,966
JBrowse link
Diamond-Blackfan anemia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DIPK1A divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 ClinVar PMID:19061985 PMID:19773262 PMID:20960466 PMID:23718193 PMID:25741868 More... NCBI chr 6:56,134,770...56,206,943
Ensembl chr 6:56,174,719...56,205,741
JBrowse link
G RPL5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 ClinVar PMID:19061985 PMID:19773262 PMID:20960466 PMID:23718193 PMID:25741868 More... NCBI chr 6:56,207,171...56,216,030
Ensembl chr 6:56,207,173...56,215,956
JBrowse link
G RPS19 ribosomal protein S19 ISO OMIM NCBI chr 1:112,418,800...112,427,445
Ensembl chr 1:112,411,281...112,427,381
JBrowse link
Diamond-Blackfan anemia 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IKZF4 IKAROS family zinc finger 4 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 ClinVar PMID:23812780 NCBI chr10:332,614...360,470
Ensembl chr10:342,097...357,364
JBrowse link
G RPS26 ribosomal protein S26 ISO OMIM NCBI chr10:362,699...364,406
Ensembl chr10:362,694...364,420
JBrowse link
Diamond-Blackfan anemia 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPL26 ribosomal protein L26 ISO OMIM NCBI chr 5:33,152,114...33,158,237
Ensembl chr 5:33,152,113...33,158,302
JBrowse link
Diamond-Blackfan anemia 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NKIRAS1 NFKB inhibitor interacting Ras like 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 12 ClinVar PMID:23812780 PMID:25741868 PMID:28492532 NCBI chr23:19,829,764...19,861,462
Ensembl chr23:19,830,124...19,861,424
JBrowse link
G RPL15 ribosomal protein L15 ISO OMIM NCBI chr23:19,825,622...19,829,807
Ensembl chr23:19,825,622...19,829,807
JBrowse link
Diamond-Blackfan anemia 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPS29 ribosomal protein S29 ISO OMIM NCBI chr 8:26,221,546...26,223,580 JBrowse link
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TSR2 TSR2 ribosome maturation factor ISO OMIM NCBI chr  X:46,189,810...46,194,949
Ensembl chr  X:46,189,870...46,296,966
JBrowse link
Diamond-Blackfan anemia 16 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPL27 ribosomal protein L27 ISO OMIM NCBI chr 9:20,063,524...20,066,915
Ensembl chr 9:20,063,525...20,066,892
JBrowse link
Diamond-Blackfan anemia 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPS27 ribosomal protein S27 ISO OMIM NCBI chr 7:43,149,465...43,150,658
Ensembl chr 7:43,067,161...43,309,293
JBrowse link
Diamond-Blackfan anemia 18 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPL18 ribosomal protein L18 ISO OMIM NCBI chr 1:107,690,021...107,694,586
Ensembl chr 1:107,688,074...107,694,596
JBrowse link
Diamond-Blackfan anemia 19 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPL35 ribosomal protein L35 ISO OMIM NCBI chr 9:58,153,433...58,158,597
Ensembl chr 9:58,153,260...58,162,327
JBrowse link
Diamond-Blackfan anemia 20 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPS15A ribosomal protein S15a ISO OMIM NCBI chr 6:26,322,478...26,329,529
Ensembl chr 6:26,322,569...26,329,668
JBrowse link
Diamond-Blackfan anemia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POLR3A RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 3 ClinVar PMID:25741868 NCBI chr 4:27,834,197...27,883,065
Ensembl chr 4:27,835,612...27,883,436
JBrowse link
G RPS24 ribosomal protein S24 ISO OMIM NCBI chr 4:27,886,872...27,893,145
Ensembl chr 4:27,877,075...27,908,806
JBrowse link
Diamond-Blackfan anemia 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPS17 ribosomal protein S17 ISO OMIM NCBI chr 3:54,400,519...54,403,203
Ensembl chr 3:54,312,195...54,406,452
JBrowse link
Diamond-Blackfan anemia 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IQCG IQ motif containing G ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 ClinVar PMID:16199547 PMID:18535205 PMID:22262766 PMID:22689679 PMID:25424902 More... NCBI chr33:28,745,089...28,791,744
Ensembl chr33:28,745,316...28,800,119
JBrowse link
G RPL35A ribosomal protein L35a ISO OMIM NCBI chr33:28,741,796...28,745,043
Ensembl chr33:28,741,819...28,744,672
JBrowse link
Diamond-Blackfan anemia 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DIPK1A divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 6 ClinVar PMID:19061985 PMID:19773262 PMID:23718193 PMID:25741868 PMID:28166811 More... NCBI chr 6:56,134,770...56,206,943
Ensembl chr 6:56,174,719...56,205,741
JBrowse link
G RPL5 ribosomal protein L5 ISO OMIM NCBI chr 6:56,207,171...56,216,030
Ensembl chr 6:56,207,173...56,215,956
JBrowse link
Diamond-Blackfan anemia 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPL11 ribosomal protein L11 ISO OMIM NCBI chr 2:75,781,210...75,785,614
Ensembl chr 2:75,781,091...75,785,605
JBrowse link
Diamond-Blackfan anemia 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPS7 ribosomal protein S7 ISO OMIM NCBI chr17:2,139,011...2,143,160
Ensembl chr17:2,138,779...2,143,178
JBrowse link
Diamond-Blackfan anemia 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPS10 ribosomal protein S10 ISO OMIM NCBI chr12:3,713,984...3,720,149
Ensembl chr12:3,713,980...3,719,780
JBrowse link
Diamond-Blackfan Anemia-Like term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPO erythropoietin ISO OMIM NCBI chr 6:8,994,211...8,995,954
Ensembl chr 6:8,994,211...8,996,144
JBrowse link
G IKZF1 IKAROS family zinc finger 1 ISO ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA-LIKE ClinVar NCBI chr18:1,661,851...1,750,987
Ensembl chr18:1,661,690...1,770,768
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13805
    physical disorder 2983
      congenital hypoplastic anemia 110
        Diamond-Blackfan anemia 63
          Diamond Blackfan anemia 15 with mandibulofacial dysostosis 3
          Diamond-Blackfan Anemia with Microtia and Cleft Palate 0
          Diamond-Blackfan Anemia-Like 2
          Diamond-Blackfan anemia 1 3
          Diamond-Blackfan anemia 10 2
          Diamond-Blackfan anemia 11 1
          Diamond-Blackfan anemia 12 2
          Diamond-Blackfan anemia 13 1
          Diamond-Blackfan anemia 14 with mandibulofacial dysostosis 1
          Diamond-Blackfan anemia 16 1
          Diamond-Blackfan anemia 17 1
          Diamond-Blackfan anemia 18 1
          Diamond-Blackfan anemia 19 1
          Diamond-Blackfan anemia 2 0
          Diamond-Blackfan anemia 20 1
          Diamond-Blackfan anemia 3 2
          Diamond-Blackfan anemia 4 1
          Diamond-Blackfan anemia 5 2
          Diamond-Blackfan anemia 6 2
          Diamond-Blackfan anemia 7 1
          Diamond-Blackfan anemia 8 1
          Diamond-Blackfan anemia 9 1
Path 2
Term Annotations click to browse term
  disease 13805
    disease of anatomical entity 13462
      Hemic and Lymphatic Diseases 2114
        hematopoietic system disease 1739
          bone marrow disease 556
            Bone Marrow Failure Disorders 162
              aplastic anemia 151
                pure red-cell aplasia 65
                  Diamond-Blackfan anemia 63
                    Diamond Blackfan anemia 15 with mandibulofacial dysostosis 3
                    Diamond-Blackfan Anemia with Microtia and Cleft Palate 0
                    Diamond-Blackfan Anemia-Like 2
                    Diamond-Blackfan anemia 1 3
                    Diamond-Blackfan anemia 10 2
                    Diamond-Blackfan anemia 11 1
                    Diamond-Blackfan anemia 12 2
                    Diamond-Blackfan anemia 13 1
                    Diamond-Blackfan anemia 14 with mandibulofacial dysostosis 1
                    Diamond-Blackfan anemia 16 1
                    Diamond-Blackfan anemia 17 1
                    Diamond-Blackfan anemia 18 1
                    Diamond-Blackfan anemia 19 1
                    Diamond-Blackfan anemia 2 0
                    Diamond-Blackfan anemia 20 1
                    Diamond-Blackfan anemia 3 2
                    Diamond-Blackfan anemia 4 1
                    Diamond-Blackfan anemia 5 2
                    Diamond-Blackfan anemia 6 2
                    Diamond-Blackfan anemia 7 1
                    Diamond-Blackfan anemia 8 1
                    Diamond-Blackfan anemia 9 1
paths to the root