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Term:thrombocytopenia-absent radius syndrome
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Accession:DOID:14699 term browser browse the term
Synonyms:exact_synonym: Absent Radii and Thrombocytopenia;   Chromosome 1q21.1 Deletion Syndrome, 200-Kb;   Radial Aplasia-Amegakaryocytic Thrombocytopenia;   Radial Aplasia-Thrombocytopenia Syndrome;   TAR;   TAR Syndrome;   Thrombocytopenia Absent Radii;   Thrombocytopenia with absent radii (TAR) syndrome;   chromosome 1q21.1 deletion syndrome
 primary_id: MESH:C536940;   RDO:0002669
 alt_id: OMIM:274000
 xref: NCI:C99038;   ORDO:3320
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thrombocytopenia-absent radius syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankrd34a ankyrin repeat domain 34A JBrowse link 2 198,720,277 198,725,155 RGD:8554872
G Ankrd35 ankyrin repeat domain 35 JBrowse link 2 198,797,136 198,817,144 RGD:8554872
G Hjv hemojuvelin BMP co-receptor JBrowse link 2 198,655,437 198,659,318 RGD:8554872
G Itga10 integrin subunit alpha 10 JBrowse link 2 198,772,937 198,792,253 RGD:8554872
G Lix1l limb and CNS expressed 1 like JBrowse link 2 198,726,110 198,751,987 RGD:8554872
G Nudt17 nudix hydrolase 17 JBrowse link 2 198,831,546 198,836,191 RGD:8554872
G Pex11b peroxisomal biogenesis factor 11 beta JBrowse link 2 198,762,138 198,771,040 RGD:8554872
G Pias3 protein inhibitor of activated STAT, 3 JBrowse link 2 198,821,377 198,831,533 RGD:8554872
G Polr3c RNA polymerase III subunit C JBrowse link 2 198,836,282 198,852,368 RGD:8554872
G Polr3gl RNA polymerase III subunit G like JBrowse link 2 198,698,044 198,719,609 RGD:8554872
G Rbm8a RNA binding motif protein 8A JBrowse link 2 198,755,261 198,758,028 RGD:7240710
G Txnip thioredoxin interacting protein JBrowse link 2 198,683,168 198,686,971 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15503
    syndrome 5771
      chromosomal deletion syndrome 507
        thrombocytopenia-absent radius syndrome 12
Path 2
Term Annotations click to browse term
  disease 15503
    disease of anatomical entity 14857
      Hemic and Lymphatic Diseases 1748
        hematopoietic system disease 1469
          blood coagulation disease 504
            hemorrhagic disease 492
              blood platelet disease 193
                thrombocytopenia 133
                  thrombocytopenia-absent radius syndrome 12
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.