ONTOLOGY REPORT - ANNOTATIONS


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
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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
RGD:8554872
RGD:11554173
G Txnip thioredoxin interacting protein JBrowse link 2 198,683,168 198,686,971 RGD:8554872

Term paths to the root
Path 1
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  disease 14920
    syndrome 4714
      chromosomal deletion syndrome 381
        thrombocytopenia-absent radius syndrome 12
Path 2
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  disease 14920
    disease of anatomical entity 14086
      Hemic and Lymphatic Diseases 1591
        hematopoietic system disease 1375
          blood coagulation disease 392
            hemorrhagic disease 378
              blood platelet disease 193
                thrombocytopenia 129
                  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.