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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:thrombocytopenia-absent radius syndrome
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Accession:DOID:14699 term browser browse the term
Definition:A chromosomal deletion syndrome that is characterized by absence of the radius bone and platelet deficiency and bilateral absence of the radii with the presence of both thumbs and generally transient thrombocytopenia (less than 50 platelets/nL) and that has_material_basis_in compound heterozygosity for a rare null mutation involving the RBM8A gene on chromosome 1q12 on 1 allele and 1 of 2 low-frequency noncoding single-nucleotide polymorphisms in RBM8A on the other. (DO)
Synonyms:exact_synonym: TAR;   TAR syndrome;   absent radii and thrombocytopenia;   chromosome 1q21.1 deletion syndrome, 200-Kb;   radial aplasia-amegakaryocytic thrombocytopenia;   radial aplasia-thrombocytopenia syndrome;   thrombocytopenia absent radii;   thrombocytopenia with absent radii (TAR) syndrome
 primary_id: MESH:C536940
 alt_id: MIM:274000
 xref: NCI:C99038;   ORDO:3320
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
thrombocytopenia-absent radius syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp6 acid phosphatase 6, lysophosphatidic ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:184,711,975...184,733,067
Ensembl chr 2:187,349,186...187,422,743 		JBrowse link
G Ankrd34a ankyrin repeat domain 34A ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr 2:184,129,830...184,135,075
Ensembl chr 2:186,817,216...186,824,467 		JBrowse link
G Ankrd35 ankyrin repeat domain 35 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr 2:184,207,076...184,227,063
Ensembl chr 2:186,895,945...186,915,902 		JBrowse link
G Bcl9 BCL9, transcription coactivator ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:184,760,616...184,846,261
Ensembl chr 2:187,449,425...187,475,241 		JBrowse link
G Cd160 CD160 molecule ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:187,029,654...187,042,447
Ensembl chr 2:187,033,140...187,064,587 		JBrowse link
G Chd1l chromodomain helicase DNA binding protein 1-like ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:187,819,869...187,906,359
Ensembl chr 2:187,811,954...187,890,477 		JBrowse link
G Fmo5 flavin containing dimethylaniline monoxygenase 5 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:185,197,184...185,249,699
Ensembl chr 2:187,910,964...187,938,464 		JBrowse link
G Gja5 gap junction protein, alpha 5 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:184,602,407...184,621,952
Ensembl chr 2:187,234,674...187,318,512 		JBrowse link
G Gja8 gap junction protein, alpha 8 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:184,490,840...184,492,456
Ensembl chr 2:187,175,507...187,186,167 		JBrowse link
G Gpr89b G protein-coupled receptor 89B ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:184,408,136...184,445,560
Ensembl chr 2:187,080,020...187,134,391 		JBrowse link
G Hjv hemojuvelin BMP co-receptor ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr 2:186,754,801...186,758,708
Ensembl chr 2:186,754,811...186,758,867 		JBrowse link
G Itga10 integrin subunit alpha 10 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr 2:184,182,869...184,202,172
Ensembl chr 2:186,871,711...186,891,012 		JBrowse link
G Lix1l limb and CNS expressed 1 like ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr 2:184,136,018...184,161,918
Ensembl chr 2:186,824,884...186,850,759 		JBrowse link
G Nudt17 nudix hydrolase 17 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr 2:184,241,468...184,243,960
Ensembl chr 2:186,930,305...186,932,797 		JBrowse link
G Pdzk1 PDZ domain containing 1 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:184,376,161...184,407,514
Ensembl chr 2:187,065,013...187,096,806 		JBrowse link
G Pex11b peroxisomal biogenesis factor 11 beta ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:25741868 More... NCBI chr 2:184,172,041...184,180,972
Ensembl chr 2:186,860,912...186,869,800 		JBrowse link
G Pias3 protein inhibitor of activated STAT, 3 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr 2:184,232,546...184,241,455
Ensembl chr 2:186,921,428...186,936,714 		JBrowse link
G Polr3c RNA polymerase III subunit C ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr 2:186,935,038...186,950,962
Ensembl chr 2:186,935,038...186,950,962 		JBrowse link
G Polr3gl RNA polymerase III subunit GL ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr 2:184,111,570...184,129,200
Ensembl chr 2:186,800,351...186,805,197 		JBrowse link
G Ppial4g peptidylprolyl isomerase A like 4G ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr15:74,015,628...74,016,215
Ensembl chr15:80,423,564...80,424,151 		JBrowse link
G Prkab2 protein kinase AMP-activated non-catalytic subunit beta 2 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:185,257,218...185,272,846
Ensembl chr 2:187,945,982...187,961,608 		JBrowse link
G Rbm8a RNA binding motif protein 8A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome 		OMIM
CTD
ClinVar		 PMID:9536098 PMID:16501574 PMID:17236129 PMID:17576681 PMID:20301781 More... NCBI chr 2:184,165,189...184,167,959
Ensembl chr 2:186,854,036...186,856,802 		JBrowse link
G Rnf115 ring finger protein 115 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:184,262,087...184,329,839
Ensembl chr 2:186,950,760...187,019,561 		JBrowse link
G Rnvu1-27 RNA, variant U1 small nuclear ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:183,943,024...183,943,187
Ensembl chr 2:186,631,884...186,632,047 		JBrowse link
G Rnvu1-6 RNA, variant U1 small nuclear 6 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:220,206,250...220,206,413
Ensembl chr 2:222,880,320...222,880,483 		JBrowse link
G Rnvu1-7 RNA, variant U1 small nuclear 7 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr18:79,901,335...79,901,477
Ensembl chr18:82,176,131...82,176,273 		JBrowse link
G Txnip thioredoxin interacting protein ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr 2:186,781,933...186,785,736
Ensembl chr 2:186,781,163...186,785,731 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      chromosomal deletion syndrome 1779
        thrombocytopenia-absent radius syndrome 27
Path 2
Term Annotations click to browse term
  disease 19167
    Pathological Conditions, Signs and Symptoms 13667
      Pathologic Processes 8430
        Chromosome Aberrations 2976
          Aneuploidy 2084
            Monosomy 1809
              Chromosome Deletion 1809
                chromosomal deletion syndrome 1779
                  thrombocytopenia-absent radius syndrome 27
paths to the root