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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital hypoplastic anemia
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Accession:DOID:1342 term browser browse the term
Definition:An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes LEUKOPENIA and THROMBOCYTOPENIA.
Synonyms:exact_synonym: Congenital Hypoplastic Anemias;   congenital aplastic anemia
 related_synonym: Constitutional aplastic anaemia
 primary_id: MESH:D029502
 alt_id: RDO:0005570
For additional species annotation, visit the Alliance of Genome Resources.


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congenital hypoplastic anemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase JBrowse link 6 26,657,507 26,680,459 RGD:11554173
G Umps uridine monophosphate synthetase JBrowse link 11 70,034,181 70,044,590 RGD:11554173
Diamond-Blackfan anemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alox12b arachidonate 12-lipoxygenase, 12R type JBrowse link 10 55,744,646 55,756,524 RGD:8554872
G Alox15b arachidonate 15-lipoxygenase, type B JBrowse link 10 55,773,748 55,783,489 RGD:8554872
G Aloxe3 arachidonate lipoxygenase 3 JBrowse link 10 55,711,996 55,735,915 RGD:8554872
G Arhgef15 Rho guanine nucleotide exchange factor 15 JBrowse link 10 55,532,097 55,545,675 RGD:8554872
G Aurkb aurora kinase B JBrowse link 10 55,625,860 55,632,399 RGD:8554872
G Borcs6 BLOC-1 related complex subunit 6 JBrowse link 10 55,642,070 55,643,924 RGD:8554872
G Chd3 chromodomain helicase DNA binding protein 3 JBrowse link 10 55,943,467 55,970,417 RGD:8554872
G Cntrob centrobin, centriole duplication and spindle assembly protein JBrowse link 10 55,901,929 55,927,121 RGD:8554872
G Ctc1 CST telomere replication complex component 1 JBrowse link 10 55,596,172 55,616,873 RGD:8554872
G Cyb5d1 cytochrome b5 domain containing 1 JBrowse link 10 55,993,206 55,997,429 RGD:8554872
G Dipk1a divergent protein kinase domain 1A JBrowse link 14 2,789,699 2,860,354 RGD:8554872
G Dnah2 dynein, axonemal, heavy chain 2 JBrowse link 10 56,029,022 56,154,602 RGD:8554872
G Efnb3 ephrin B3 JBrowse link 10 56,161,431 56,168,819 RGD:8554872
G Flvcr1 feline leukemia virus subgroup C cellular receptor 1 JBrowse link 13 109,624,167 109,629,609 RGD:13592920
G Gh1 growth hormone 1 JBrowse link 10 94,486,204 94,488,181 RGD:11352737
G Gucy2d guanylate cyclase 2D, retinal JBrowse link 10 55,835,695 55,851,235 RGD:8554872
G Hes7 hes family bHLH transcription factor 7 JBrowse link 10 55,704,485 55,710,523 RGD:8554872
G Iqcg IQ motif containing G JBrowse link 11 70,967,228 71,007,708 RGD:8554872
G Kcnab3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 JBrowse link 10 55,927,228 55,933,653 RGD:8554872
G Kdm6b lysine demethylase 6B JBrowse link 10 56,000,494 56,009,582 RGD:8554872
G Klf1 Kruppel like factor 1 JBrowse link 19 26,016,289 26,019,557 RGD:10769343
G LOC100361854 ribosomal protein S26-like JBrowse link X 115,495,660 115,496,062 RGD:8554872
RGD:13592920
G Naa38 N(alpha)-acetyltransferase 38, NatC auxiliary subunit JBrowse link 10 55,997,614 55,998,691 RGD:8554872
G Odf4 outer dense fiber of sperm tails 4 JBrowse link 10 55,510,333 55,516,315 RGD:8554872
G Per1 period circadian regulator 1 JBrowse link 10 55,681,761 55,696,557 RGD:8554872
G Pfas phosphoribosylformylglycinamidine synthase JBrowse link 10 55,571,881 55,593,384 RGD:8554872
G Polr3a RNA polymerase III subunit A JBrowse link 16 717,821 756,002 RGD:8554872
G Rangrf RAN guanine nucleotide release factor JBrowse link 10 55,559,049 55,560,420 RGD:8554872
G RGD1563441 similar to RIKEN cDNA A030009H04 JBrowse link 10 55,940,533 55,941,205 RGD:8554872
G Rpl11 ribosomal protein L11 JBrowse link 5 154,390,809 154,394,412 RGD:8554872
RGD:13592920
G Rpl15 ribosomal protein L15 JBrowse link 15 8,188,717 8,192,153 RGD:13592920
G Rpl26 ribosomal protein L26 JBrowse link 10 55,492,417 55,495,547 RGD:8554872
RGD:13592920
G Rpl35a ribosomal protein L35a JBrowse link 11 70,963,223 70,967,146 RGD:8554872
RGD:13592920
G Rpl5 ribosomal protein L5 JBrowse link 14 2,860,963 2,867,397 RGD:8554872
RGD:13592920
G Rps10 ribosomal protein S10 JBrowse link 20 7,215,762 7,220,331 RGD:8554872
RGD:13592920
G Rps17 ribosomal protein S17 JBrowse link 1 143,167,329 143,169,915 RGD:11554173
G Rps19 ribosomal protein S19 JBrowse link 1 81,750,873 81,756,629 RGD:1599572
RGD:8554872
RGD:11554173
RGD:1599571
G Rps24 ribosomal protein S24 JBrowse link 16 757,390 762,091 RGD:8554872
RGD:13592920
G Rps29 ribosomal protein S29 JBrowse link 6 91,455,333 91,456,709 RGD:13592920
G Rps7 ribosomal protein S7 JBrowse link 6 47,899,525 47,904,389 RGD:8554872
RGD:13592920
G Rpsa ribosomal protein SA JBrowse link 8 128,806,053 128,809,987 RGD:13592920
G Slc25a35 solute carrier family 25, member 35 JBrowse link 10 55,554,911 55,559,083 RGD:8554872
G Tmem107 transmembrane protein 107 JBrowse link 10 55,653,694 55,656,270 RGD:8554872
G Tmem88 transmembrane protein 88 JBrowse link 10 55,998,530 56,000,225 RGD:8554872
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:8554872
G Trappc1 trafficking protein particle complex 1 JBrowse link 10 55,924,996 55,926,582 RGD:8554872
G Vamp2 vesicle-associated membrane protein 2 JBrowse link 10 55,675,171 55,679,405 RGD:8554872
G Wrap53 WD repeat containing, antisense to TP53 JBrowse link 10 56,169,024 56,185,800 RGD:8554872
Diamond-Blackfan Anemia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dipk1a divergent protein kinase domain 1A JBrowse link 14 2,789,699 2,860,354 RGD:8554872
G Rpl5 ribosomal protein L5 JBrowse link 14 2,860,963 2,867,397 RGD:8554872
G Rps19 ribosomal protein S19 JBrowse link 1 81,750,873 81,756,629 RGD:8554872
RGD:7240710
Diamond-Blackfan Anemia 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ikzf4 IKAROS family zinc finger 4 JBrowse link 7 3,061,422 3,098,142 RGD:8554872
G LOC100361854 ribosomal protein S26-like JBrowse link X 115,495,660 115,496,062 RGD:7240710
RGD:8554872
Diamond-Blackfan Anemia 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rpl26 ribosomal protein L26 JBrowse link 10 55,492,417 55,495,547 RGD:7240710
RGD:8554872
Diamond-Blackfan Anemia 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rpl15 ribosomal protein L15 JBrowse link 15 8,188,717 8,192,153 RGD:7240710
RGD:8554872
Diamond-Blackfan Anemia 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rps29 ribosomal protein S29 JBrowse link 6 91,455,333 91,456,709 RGD:8554872
RGD:7240710
Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tsr2 TSR2, ribosome maturation factor JBrowse link X 20,141,406 20,146,082 RGD:7240710
RGD:8554872
Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100361854 ribosomal protein S26-like JBrowse link X 115,495,660 115,496,062 RGD:8554872
G Rps28 ribosomal protein S28 JBrowse link 7 18,682,071 18,683,440 RGD:7240710
RGD:8554872
G Tsr2 TSR2, ribosome maturation factor JBrowse link X 20,141,406 20,146,082 RGD:8554872
Diamond-Blackfan Anemia 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rpl27 ribosomal protein L27 JBrowse link 10 89,352,864 89,356,563 RGD:8554872
RGD:7240710
Diamond-Blackfan Anemia 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rps27 ribosomal protein S27 JBrowse link 2 189,572,175 189,573,280 RGD:8554872
RGD:7240710
Diamond-Blackfan Anemia 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rpl18 ribosomal protein L18 JBrowse link 1 101,700,910 101,703,551 RGD:8554872
RGD:7240710
Diamond-Blackfan Anemia 19 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gls glutaminase JBrowse link 9 54,212,622 54,284,879 RGD:7240710
G Rpl35 ribosomal protein L35 JBrowse link 3 23,294,813 23,297,774 RGD:8554872
RGD:7240710
Diamond-Blackfan Anemia 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rps15a ribosomal protein S15a JBrowse link 1 187,759,865 187,766,734 RGD:8554872
RGD:7240710
Diamond-Blackfan Anemia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rps24 ribosomal protein S24 JBrowse link 16 757,390 762,091 RGD:7240710
RGD:8554872
Diamond-Blackfan Anemia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rps17 ribosomal protein S17 JBrowse link 1 143,167,329 143,169,915 RGD:7240710
RGD:8554872
Diamond-Blackfan Anemia 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Iqcg IQ motif containing G JBrowse link 11 70,967,228 71,007,708 RGD:8554872
G Rpl35a ribosomal protein L35a JBrowse link 11 70,963,223 70,967,146 RGD:7240710
RGD:8554872
RGD:11535072
RGD:11535069
Diamond-Blackfan Anemia 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dipk1a divergent protein kinase domain 1A JBrowse link 14 2,789,699 2,860,354 RGD:8554872
G Rpl5 ribosomal protein L5 JBrowse link 14 2,860,963 2,867,397 RGD:7240710
RGD:8554872
RGD:11535969
RGD:11535967
RGD:11535132
RGD:11535130
RGD:11535128
RGD:11535122
Diamond-Blackfan Anemia 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rpl11 ribosomal protein L11 JBrowse link 5 154,390,809 154,394,412 RGD:7240710
RGD:8554872
RGD:11535122
RGD:11535132
RGD:11535130
RGD:11535967
RGD:11535969
RGD:11535971
Diamond-Blackfan Anemia 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rps7 ribosomal protein S7 JBrowse link 6 47,899,525 47,904,389 RGD:8554872
RGD:7240710
Diamond-Blackfan Anemia 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rps10 ribosomal protein S10 JBrowse link 20 7,215,762 7,220,331 RGD:7240710
RGD:8554872
Diamond-Blackfan Anemia with Microtia and Cleft Palate term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100361854 ribosomal protein S26-like JBrowse link X 115,495,660 115,496,062 RGD:8554872
G Rps28 ribosomal protein S28 JBrowse link 7 18,682,071 18,683,440 RGD:8554872
G Tsr2 TSR2, ribosome maturation factor JBrowse link X 20,141,406 20,146,082 RGD:8554872
DIAMOND-BLACKFAN ANEMIA-LIKE term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Epo erythropoietin JBrowse link 12 22,274,828 22,278,268 RGD:8554872
RGD:7240710
Fanconi anemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brca2 BRCA2, DNA repair associated JBrowse link 12 503,660 544,754 RGD:734658
RGD:8554872
G Brip1 BRCA1 interacting protein C-terminal helicase 1 JBrowse link 10 73,507,009 73,632,742 RGD:11554173
RGD:8554872
G Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex JBrowse link 4 145,559,206 145,574,438 RGD:8554872
G Fanca FA complementation group A JBrowse link 19 56,067,548 56,126,075 RGD:8554872
RGD:11554173
RGD:11344919
RGD:11344914
RGD:11344899
G Fancb FA complementation group B JBrowse link X 31,124,018 31,140,790 RGD:8554872
G Fancc FA complementation group C JBrowse link 17 826,512 955,703 RGD:8554872
RGD:11554173
RGD:11344914
RGD:11041907
G Fancd2 FA complementation group D2 JBrowse link 4 145,489,869 145,551,479 RGD:1601137
RGD:8554872
RGD:11554173
RGD:11344904
G Fancd2os FANCD2 opposite strand JBrowse link 4 145,549,248 145,556,054 RGD:8554872
G Fance FA complementation group E JBrowse link 20 7,888,927 7,906,142 RGD:8554872
G Fancf FA complementation group F JBrowse link 1 107,229,516 107,232,321 RGD:8554872
G Fancg FA complementation group G JBrowse link 5 58,448,060 58,456,416 RGD:1599879
RGD:8554872
RGD:11554173
G Fanci FA complementation group I JBrowse link 1 141,116,565 141,172,997 RGD:8554872
RGD:11344925
G Fancl FA complementation group L JBrowse link 14 110,675,306 110,740,880 RGD:8554872
RGD:11554173
G Fancm FA complementation group M JBrowse link 6 86,823,195 86,877,067 RGD:8554872
RGD:11554173
G Flt3lg fms-related tyrosine kinase 3 ligand JBrowse link 1 101,126,006 101,131,413 RGD:11049505
G Gstm1 glutathione S-transferase mu 1 JBrowse link 2 210,803,869 210,809,461 RGD:10450839
G Gstt1 glutathione S-transferase theta 1 JBrowse link 20 13,799,102 13,816,527 RGD:10450839
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:11049161
G Il10 interleukin 10 JBrowse link 13 47,738,933 47,743,392 RGD:11049161
G Mc1r melanocortin 1 receptor JBrowse link 19 56,215,420 56,219,987 RGD:8554872
G Mx2 MX dynamin like GTPase 2 JBrowse link 11 38,035,306 38,066,185 RGD:11554173
G Npepo aminopeptidase O JBrowse link 17 507,389 825,062 RGD:8554872
G Palb2 partner and localizer of BRCA2 JBrowse link 1 192,064,586 192,088,547 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8554872
G Prf1 perforin 1 JBrowse link 20 30,915,294 30,920,804 RGD:6482802
G Ptch1 patched 1 JBrowse link 17 1,032,242 1,085,885 RGD:8554872
G Rad51c RAD51 paralog C JBrowse link 10 74,697,713 74,724,004 RGD:11554173
RGD:8554872
G Slx4 SLX4 structure-specific endonuclease subunit JBrowse link 10 11,787,756 11,808,326 RGD:8554872
RGD:11554173
G Spire2 spire-type actin nucleation factor 2 JBrowse link 19 56,136,904 56,175,500 RGD:8554872
G Tcf25 transcription factor 25 JBrowse link 19 56,178,905 56,213,299 RGD:8554872
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:10450524
RGD:11554173
RGD:11049161
G Usp1 ubiquitin specific peptidase 1 JBrowse link 5 117,583,502 117,594,872 RGD:13592920
G Vcp valosin-containing protein JBrowse link 5 58,426,548 58,445,953 RGD:8554872
G Vhl von Hippel-Lindau tumor suppressor JBrowse link 4 145,580,869 145,587,835 RGD:8554872
G Vrk2 VRK serine/threonine kinase 2 JBrowse link 14 110,739,835 110,883,836 RGD:8554872
G Zfp276 zinc finger protein (C2H2 type) 276 JBrowse link 19 56,054,250 56,067,767 RGD:8554872
Fanconi anemia complementation group A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brca1 BRCA1, DNA repair associated JBrowse link 10 89,394,821 89,455,093 RGD:8554872
G Fanca FA complementation group A JBrowse link 19 56,067,548 56,126,075 RGD:8554872
RGD:7240710
G Zfp276 zinc finger protein (C2H2 type) 276 JBrowse link 19 56,054,250 56,067,767 RGD:8554872
Fanconi anemia complementation group B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fancb FA complementation group B JBrowse link X 31,124,018 31,140,790 RGD:7240710
RGD:8554872
Fanconi anemia complementation group C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fancc FA complementation group C JBrowse link 17 826,512 955,703 RGD:7240710
RGD:8554872
G Npepo aminopeptidase O JBrowse link 17 507,389 825,062 RGD:8554872
Fanconi anemia complementation group D1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brca2 BRCA2, DNA repair associated JBrowse link 12 503,660 544,754 RGD:7240710
RGD:8554872
Fanconi anemia complementation group D2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fancd2 FA complementation group D2 JBrowse link 4 145,489,869 145,551,479 RGD:7240710
RGD:8554872
G Fancd2os FANCD2 opposite strand JBrowse link 4 145,549,248 145,556,054 RGD:8554872
Fanconi anemia complementation group E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fance FA complementation group E JBrowse link 20 7,888,927 7,906,142 RGD:7240710
RGD:8554872
Fanconi anemia complementation group F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fancf FA complementation group F JBrowse link 1 107,229,516 107,232,321 RGD:7240710
RGD:8554872
Fanconi anemia complementation group G term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fancg FA complementation group G JBrowse link 5 58,448,060 58,456,416 RGD:7240710
RGD:8554872
Fanconi anemia complementation group I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fanci FA complementation group I JBrowse link 1 141,116,565 141,172,997 RGD:7240710
RGD:8554872
RGD:11344924
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8554872
Fanconi anemia complementation group J term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brip1 BRCA1 interacting protein C-terminal helicase 1 JBrowse link 10 73,507,009 73,632,742 RGD:7240710
RGD:8554872
RGD:11251781
Fanconi anemia complementation group L term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fancl FA complementation group L JBrowse link 14 110,675,306 110,740,880 RGD:7240710
RGD:8554872
G Vrk2 VRK serine/threonine kinase 2 JBrowse link 14 110,739,835 110,883,836 RGD:8554872
Fanconi Anemia Complementation Group M term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fancm FA complementation group M JBrowse link 6 86,823,195 86,877,067 RGD:7240710
RGD:8554872
Fanconi anemia complementation group N term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Palb2 partner and localizer of BRCA2 JBrowse link 1 192,064,586 192,088,547 RGD:7240710
RGD:8554872
Fanconi anemia complementation group O term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rad51c RAD51 paralog C JBrowse link 10 74,697,713 74,724,004 RGD:7240710
RGD:8554872
Fanconi anemia complementation group P term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slx4 SLX4 structure-specific endonuclease subunit JBrowse link 10 11,787,756 11,808,326 RGD:7240710
RGD:8554872
Fanconi anemia complementation group Q term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit JBrowse link 10 2,010,140 2,037,953 RGD:7240710
RGD:8554872
Fanconi anemia complementation group R term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rad51 RAD51 recombinase JBrowse link 3 110,918,240 110,942,920 RGD:8554872
RGD:7240710
Fanconi anemia complementation group T term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ube2t ubiquitin-conjugating enzyme E2T JBrowse link 13 51,790,877 51,801,379 RGD:8554872
RGD:7240710
Fanconi anemia complementation group U term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Xrcc2 X-ray repair cross complementing 2 JBrowse link 4 5,842,013 5,860,516 RGD:8554872
RGD:7240710
Fanconi anemia complementation group V term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mad2l2 mitotic arrest deficient 2 like 2 JBrowse link 5 164,943,183 164,956,255 RGD:8554872
RGD:7240710
Fanconi Anemia Complementation Group W term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rfwd3 ring finger and WD repeat domain 3 JBrowse link 19 42,960,597 42,971,894 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14924
    Developmental Diseases 7770
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7092
        genetic disease 6457
          congenital hypoplastic anemia 103
            Diamond-Blackfan anemia + 58
            Fanconi anemia + 43
Path 2
Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      Hemic and Lymphatic Diseases 1579
        hematopoietic system disease 1366
          bone marrow disease 399
            aplastic anemia 147
              congenital hypoplastic anemia 103
                Diamond-Blackfan anemia + 58
                Fanconi anemia + 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.