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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:pure red-cell aplasia
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Accession:DOID:1340 term browser browse the term
Definition:Suppression of erythropoiesis with little or no abnormality of leukocyte or platelet production.
Synonyms:exact_synonym: Erythrocyte Aplasia;   Erythrocyte Aplasias;   Pure Red-Cell Aplasias;   Red cell hypoplasia;   primary red cell aplasia
 primary_id: MESH:D012010;   RDO:0006466
 xref: GARD:7504;   NCI:C34974
For additional species annotation, visit the Alliance of Genome Resources.


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pure red-cell aplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hamp hepcidin antimicrobial peptide ISO mRNA:increased expression:liver RGD PMID:25580431 RGD:11041717 NCBI chrNW_004955468:4,576,080...4,577,591
Ensembl chrNW_004955468:4,575,510...4,577,649
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 chrNW_004955458:3,632,675...3,634,565
Ensembl chrNW_004955458:3,632,699...3,634,566
JBrowse link
G Rps28 ribosomal protein S28 ISO OMIM NCBI chrNW_004955563:1,073,556...1,074,149
Ensembl chrNW_004955563:1,073,774...1,074,077
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 chrNW_004955475:1,698,926...1,703,404
Ensembl chrNW_004955475:1,698,136...1,703,404
JBrowse link
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 chrNW_004955467:8,876,186...8,887,980
Ensembl chrNW_004955467:8,876,027...8,888,033
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 chrNW_004955467:8,896,740...8,906,032
Ensembl chrNW_004955467:8,895,095...8,906,009
JBrowse link
G Aloxe3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chrNW_004955467:8,844,805...8,869,230
Ensembl chrNW_004955467:8,844,805...8,869,964
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 chrNW_004955467:8,590,217...8,603,778
Ensembl chrNW_004955467:8,587,873...8,602,747
JBrowse link
G Aurkb aurora kinase B ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chrNW_004955467:8,715,387...8,720,889
Ensembl chrNW_004955467:8,715,136...8,723,932
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 chrNW_004955467:8,766,322...8,769,169 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 chrNW_004955467:9,024,112...9,050,062
Ensembl chrNW_004955467:9,029,265...9,050,718
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 chrNW_004955467:8,993,528...9,010,829
Ensembl chrNW_004955467:8,993,952...9,009,928
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 chrNW_004955467:8,673,069...8,700,730
Ensembl chrNW_004955467:8,673,128...8,702,165
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 chrNW_004955423:1,651,562...1,748,651
Ensembl chrNW_004955423:1,710,257...1,748,651
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 chrNW_004955467:9,107,089...9,210,941
Ensembl chrNW_004955467:9,107,295...9,210,941
JBrowse link
G Efnb3 ephrin B3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chrNW_004955467:9,217,796...9,225,223
Ensembl chrNW_004955467:9,217,796...9,224,940
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 chrNW_004955543:334,581...342,042
Ensembl chrNW_004955543:334,061...342,061
JBrowse link
G Glod5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chrNW_004955543:320,087...321,311
Ensembl chrNW_004955543:319,985...323,393
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 chrNW_004955467:8,938,057...8,949,684
Ensembl chrNW_004955467:8,938,057...8,949,684
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 chrNW_004955467:8,837,895...8,841,062
Ensembl chrNW_004955467:8,837,886...8,841,739
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 chrNW_004955467:9,013,279...9,020,716
Ensembl chrNW_004955467:9,013,279...9,020,716
JBrowse link
G Kdm6b lysine demethylase 6B ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chrNW_004955467:9,085,239...9,106,658
Ensembl chrNW_004955467:9,086,204...9,094,404
JBrowse link
G Klf1 Kruppel like factor 1 ISO mRNA:decreased expression:bone marrow, blood RGD PMID:22965552 RGD:10769343 NCBI chrNW_004955415:31,939,994...31,943,539
Ensembl chrNW_004955415:31,939,873...31,943,545
JBrowse link
G LOC102029382 cytochrome b5 domain-containing protein 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chrNW_004955467:9,077,537...9,081,759
Ensembl chrNW_004955467:9,077,537...9,081,759
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 chrNW_004955467:9,082,104...9,083,024
Ensembl chrNW_004955467:9,082,244...9,082,977
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 chrNW_004955467:8,556,722...8,570,624 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 chrNW_004955467:8,798,436...8,813,369
Ensembl chrNW_004955467:8,797,912...8,813,365
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chrNW_004955467:8,640,044...8,660,950
Ensembl chrNW_004955467:8,640,044...8,660,979
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 chrNW_004955437:14,446,059...14,483,336
Ensembl chrNW_004955437:14,446,024...14,483,336
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 chrNW_004955467:8,622,843...8,624,401
Ensembl chrNW_004955467:8,622,843...8,624,401
JBrowse link
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 chrNW_004955452:3,626,609...3,630,911
Ensembl chrNW_004955452:3,626,609...3,633,209
JBrowse link
G Rpl26 ribosomal protein L26 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chrNW_004955467:8,519,760...8,525,514
Ensembl chrNW_004955467:8,519,760...8,527,182
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 chrNW_004955423:1,748,809...1,758,622 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 chrNW_004955437:2,600,219...2,604,821 JBrowse link
G Rps17 ribosomal protein S17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17647292 NCBI chrNW_004955416:14,039,596...14,042,908 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 chrNW_004955555:969,345...976,122
Ensembl chrNW_004955555:969,340...976,509
JBrowse link
G Rps20 ribosomal protein S20 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:25741868 PMID:32790018 NCBI chrNW_004955454:15,151,065...15,152,301 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 chrNW_004955437:14,435,822...14,442,662
Ensembl chrNW_004955437:14,434,771...14,443,106
JBrowse link
G Rps7 ribosomal protein S7 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chrNW_004955487:3,793,168...3,798,007
Ensembl chrNW_004955487:3,792,870...3,798,153
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 chrNW_004955467:8,618,572...8,628,857
Ensembl chrNW_004955467:8,618,579...8,622,870
JBrowse link
G Suv39h1 SUV39H1 histone lysine methyltransferase ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chrNW_004955543:258,479...271,128
Ensembl chrNW_004955543:258,479...272,473
JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chrNW_004955467:8,777,078...8,779,164
Ensembl chrNW_004955467:8,777,071...8,779,164
JBrowse link
G Tmem88 transmembrane protein 88 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chrNW_004955467:9,083,623...9,084,834
Ensembl chrNW_004955467:9,083,623...9,084,834
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 chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928
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 chrNW_004955467:9,010,936...9,012,796
Ensembl chrNW_004955467:9,011,138...9,012,796
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 chrNW_004955467:8,793,296...8,796,771 JBrowse link
G Was WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chrNW_004955543:243,618...253,489
Ensembl chrNW_004955543:247,631...253,274
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 chrNW_004955467:9,225,506...9,240,756 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 chrNW_004955423:1,651,562...1,748,651
Ensembl chrNW_004955423:1,710,257...1,748,651
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 chrNW_004955423:1,748,809...1,758,622 JBrowse link
G Rps19 ribosomal protein S19 ISO OMIM NCBI chrNW_004955555:969,345...976,122
Ensembl chrNW_004955555:969,340...976,509
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 chrNW_004955458:3,589,865...3,627,154
Ensembl chrNW_004955458:3,614,228...3,627,930
JBrowse link
G Rps26 ribosomal protein S26 ISO OMIM NCBI chrNW_004955458:3,632,675...3,634,565
Ensembl chrNW_004955458:3,632,699...3,634,566
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 chrNW_004955467:8,519,760...8,525,514
Ensembl chrNW_004955467:8,519,760...8,527,182
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 chrNW_004955430:15,736,060...15,766,362
Ensembl chrNW_004955430:15,736,341...15,758,870
JBrowse link
G Rpl15 ribosomal protein L15 ISO OMIM NCBI chrNW_004955430:15,766,465...15,769,239
Ensembl chrNW_004955430:15,766,465...15,769,239
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 chrNW_004955409:13,056,022...13,057,530
Ensembl chrNW_004955409:13,055,341...13,056,437
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 chrNW_004955475:1,698,926...1,703,404
Ensembl chrNW_004955475:1,698,136...1,703,404
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 chrNW_004955451:16,788,505...16,790,468
Ensembl chrNW_004955451:16,788,551...16,790,458
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 chrNW_004955545:599,762...601,399
Ensembl chrNW_004955545:599,762...601,399
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 chrNW_004955559:1,929,643...1,933,077
Ensembl chrNW_004955559:1,930,614...1,933,037
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 chrNW_004955419:3,371,109...3,374,555
Ensembl chrNW_004955419:3,371,109...3,374,555
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 chrNW_004955442:2,530,838...2,535,421
Ensembl chrNW_004955442:2,530,838...2,535,421
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 chrNW_004955437:14,446,059...14,483,336
Ensembl chrNW_004955437:14,446,024...14,483,336
JBrowse link
G Rps24 ribosomal protein S24 ISO OMIM NCBI chrNW_004955437:14,435,822...14,442,662
Ensembl chrNW_004955437:14,434,771...14,443,106
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 chrNW_004955416:14,039,596...14,042,908 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 chrNW_004955420:11,960,778...11,997,807
Ensembl chrNW_004955420:11,963,159...11,997,531
JBrowse link
G Rpl35a ribosomal protein L35a ISO OMIM NCBI chrNW_004955420:11,957,070...11,960,713
Ensembl chrNW_004955420:11,957,070...11,960,713
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 chrNW_004955423:1,651,562...1,748,651
Ensembl chrNW_004955423:1,710,257...1,748,651
JBrowse link
G Rpl5 ribosomal protein L5 ISO OMIM NCBI chrNW_004955423:1,748,809...1,758,622 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 chrNW_004955452:3,626,609...3,630,911
Ensembl chrNW_004955452:3,626,609...3,633,209
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 chrNW_004955487:3,793,168...3,798,007
Ensembl chrNW_004955487:3,792,870...3,798,153
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 chrNW_004955437:2,600,219...2,604,821 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 chrNW_004955573:203,875...206,078
Ensembl chrNW_004955573:203,441...206,355
JBrowse link
G Ikzf1 IKAROS family zinc finger 1 ISO ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA-LIKE ClinVar NCBI chrNW_004955456:3,617,988...3,721,791
Ensembl chrNW_004955456:3,635,380...3,721,791
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12744
    disease of anatomical entity 12425
      hematopoietic system disease 1633
        anemia 367
          pure red-cell aplasia 61
            Diamond-Blackfan anemia + 60
Path 2
Term Annotations click to browse term
  disease 12744
    disease of anatomical entity 12425
      Hemic and Lymphatic Diseases 1978
        hematopoietic system disease 1633
          bone marrow disease 519
            Bone Marrow Failure Disorders 152
              aplastic anemia 141
                pure red-cell aplasia 61
                  Diamond-Blackfan anemia + 60
paths to the root