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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;   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: OMIM:274000
 xref: NCI:C99038;   ORDO:3320
For additional species annotation, visit the Alliance of Genome Resources.



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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: Chromosome 1q21.1 deletion syndrome | ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:184,711,975...184,733,067
Ensembl chr 2:184,711,619...184,733,017
JBrowse link
G Ankrd34a ankyrin repeat domain 34A ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:28492532 NCBI chr 2:184,129,830...184,135,075
Ensembl chr 2:184,129,238...184,135,116
JBrowse link
G Ankrd35 ankyrin repeat domain 35 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:28492532 NCBI chr 2:184,207,076...184,227,063
Ensembl chr 2:184,207,071...184,227,063
JBrowse link
G Bcl9 BCL9, transcription coactivator ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome | ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:184,760,616...184,846,261
Ensembl chr 2:184,760,618...184,786,435
JBrowse link
G Cd160 CD160 molecule ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:184,340,820...184,383,421
Ensembl chr 2:184,340,599...184,375,834
JBrowse link
G Chd1l chromodomain helicase DNA binding protein 1-like ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome | ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:185,138,526...185,217,498
Ensembl chr 2:185,139,308...185,217,595
JBrowse link
G Fmo5 flavin containing dimethylaniline monoxygenase 5 ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome | ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:185,197,184...185,249,699
Ensembl chr 2:185,222,204...185,249,693
JBrowse link
G Gja5 gap junction protein, alpha 5 ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome | ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:184,602,407...184,621,952
Ensembl chr 2:184,564,475...184,621,952
JBrowse link
G Gja8 gap junction protein, alpha 8 ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome | ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:25741868 PMID:26694549 PMID:28492532 NCBI chr 2:184,490,840...184,492,456
Ensembl chr 2:184,490,840...184,492,456
JBrowse link
G Gpr89b G protein-coupled receptor 89B ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome | ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:184,408,136...184,445,560
Ensembl chr 2:184,401,438...184,445,584
JBrowse link
G Hjv hemojuvelin BMP co-receptor ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:28492532 NCBI chr 2:184,065,970...184,069,851
Ensembl chr 2:184,065,970...184,069,850
JBrowse link
G Itga10 integrin subunit alpha 10 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:28492532 NCBI chr 2:184,182,869...184,202,172
Ensembl chr 2:184,182,869...184,202,172
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:28492532 NCBI chr 2:184,136,018...184,161,918
Ensembl chr 2:184,136,038...184,161,916
JBrowse link
G LOC100911252 peptidyl-prolyl cis-trans isomerase A-like ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 4:41,828,873...41,829,619
Ensembl chr 4:41,828,867...41,829,622
JBrowse link
G Nudt17 nudix hydrolase 17 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:28492532 NCBI chr 2:184,241,468...184,243,960
Ensembl chr 2:184,241,468...184,243,960
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 2:184,376,161...184,407,514
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:28492532 NCBI chr 2:184,172,041...184,180,972
Ensembl chr 2:184,172,004...184,181,495
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:28492532 NCBI chr 2:184,232,546...184,241,455
Ensembl chr 2:184,232,571...184,241,480
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:28492532 NCBI chr 2:184,246,201...184,262,150
Ensembl chr 2:184,246,204...184,262,208
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:28492532 NCBI chr 2:184,111,570...184,129,200
Ensembl chr 2:184,112,510...184,129,114
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 chr15:74,015,628...74,016,215
JBrowse link
G Prkab2 protein kinase AMP-activated non-catalytic subunit beta 2 ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome | ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:185,257,218...185,272,846
Ensembl chr 2:185,257,213...185,269,872
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:16501574 PMID:17236129 PMID:22366785 PMID:23754559 PMID:24033266 More... NCBI chr 2:184,165,189...184,167,959
Ensembl chr 2:184,165,193...184,167,959
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...184,329,841
Ensembl chr 2:184,262,371...184,329,823
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 2:220,206,250...220,206,413
JBrowse link
G Txnip thioredoxin interacting protein ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:28492532 NCBI chr 2:184,093,079...184,096,882
Ensembl chr 2:184,092,991...184,096,886
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    syndrome 9802
      chromosomal deletion syndrome 1250
        thrombocytopenia-absent radius syndrome 26
Path 2
Term Annotations click to browse term
  disease 18256
    Pathological Conditions, Signs and Symptoms 12646
      Pathologic Processes 7842
        Chromosome Aberrations 2350
          Aneuploidy 1589
            Monosomy 1312
              Chromosome Deletion 1312
                chromosomal deletion syndrome 1250
                  thrombocytopenia-absent radius syndrome 26
paths to the root