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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 Ankrd34a ankyrin repeat domain 34A ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:198,720,277...198,725,155
Ensembl chr 2:198,721,724...198,725,154 		JBrowse link
G Ankrd35 ankyrin repeat domain 35 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:198,797,136...198,817,144
Ensembl chr 2:198,797,159...198,817,146 		JBrowse link
G Hjv hemojuvelin BMP co-receptor ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:198,655,437...198,659,318
Ensembl chr 2:198,655,437...198,659,317 		JBrowse link
G Itga10 integrin subunit alpha 10 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:198,772,937...198,792,253
Ensembl chr 2:198,772,937...198,792,253 		JBrowse link
G Lix1l limb and CNS expressed 1 like ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:198,726,110...198,751,987
Ensembl chr 2:198,726,118...198,751,985 		JBrowse link
G Nudt17 nudix hydrolase 17 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:198,831,546...198,836,191
Ensembl chr 2:198,831,546...198,834,925 		JBrowse link
G Pex11b peroxisomal biogenesis factor 11 beta ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:198,762,138...198,771,040
Ensembl chr 2:198,762,138...198,771,026 		JBrowse link
G Pias3 protein inhibitor of activated STAT, 3 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:198,821,377...198,831,533
Ensembl chr 2:198,823,366...198,836,372 		JBrowse link
G Polr3c RNA polymerase III subunit C ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:198,836,282...198,852,368
Ensembl chr 2:198,836,285...198,852,161 		JBrowse link
G Polr3gl RNA polymerase III subunit GL ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:198,698,044...198,719,609
Ensembl chr 2:198,702,587...198,719,202 		JBrowse link
G Rbm8a RNA binding motif protein 8A ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:274000		 OMIM
ClinVar
CTD		 PMID:16501574 PMID:17236129 PMID:22366785 PMID:23754559 PMID:24033266 PMID:24053387 PMID:24220582 PMID:25741868 PMID:27320760 PMID:27846804 PMID:28492532 PMID:28857120 PMID:32227665 NCBI chr 2:198,755,261...198,758,028
Ensembl chr 2:198,755,262...198,758,028 		JBrowse link
G Txnip thioredoxin interacting protein ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:198,683,168...198,686,971
Ensembl chr 2:198,683,159...198,686,974 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    syndrome 7057
      chromosomal deletion syndrome 879
        thrombocytopenia-absent radius syndrome 12
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      Hemic and Lymphatic Diseases 2070
        hematopoietic system disease 1652
          blood coagulation disease 626
            hemorrhagic disease 616
              blood platelet disease 311
                thrombocytopenia 254
                  thrombocytopenia-absent radius syndrome 12
paths to the root