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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:Rubinstein-Taybi syndrome
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Accession:DOID:1933 term browser browse the term
Definition:A syndrome characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes. (DO)
Synonyms:exact_synonym: RSTS;   RSTS1;   RSTS2;   Rubinstein syndrome;   Rubinstein-Taybi syndrome 1;   Rubinstein-Taybi syndrome 2;   broad thumb hallux syndrome;   broad thumb-hallux syndromes;   broad thumbs and great toes, characteristic facies, and mental retardation
 primary_id: MESH:D012415
 alt_id: OMIM:180849;   OMIM:613684
 xref: GARD:7593;   NCI:C75466;   OMIM:PS180849;   ORDO:783
For additional species annotation, visit the Alliance of Genome Resources.


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Rubinstein-Taybi syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcy9 adenylate cyclase 9 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483, PMID:15706485, PMID:17855048, PMID:25805166, PMID:27257017, PMID:28492532 NCBI chr10:11,392,698...11,515,406
Ensembl chr10:11,392,625...11,512,600
JBrowse link
G Anks3 ankyrin repeat and sterile alpha motif domain containing 3 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483, PMID:17855048, PMID:25805166, PMID:27257017, PMID:28492532 NCBI chr10:10,808,780...10,829,507
Ensembl chr10:10,808,823...10,831,535
JBrowse link
G Cdip1 cell death-inducing p53 target 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483, PMID:17855048, PMID:25805166, PMID:27257017, PMID:28492532 NCBI chr10:10,966,819...10,989,937
Ensembl chr10:10,967,658...10,989,936
JBrowse link
G Coro7 coronin 7 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483, PMID:17855048, PMID:25805166, PMID:27257017, PMID:28492532 NCBI chr10:11,090,200...11,144,289
Ensembl chr10:11,090,314...11,143,881
JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1
ClinVar Annotator: match by OMIM:180849
ClinVar
OMIM
PMID:7630403, PMID:8967953, PMID:10699051, PMID:11331617, PMID:12070251, PMID:12114483, PMID:12566391, PMID:13983033, PMID:15706485, PMID:16021471, PMID:16359492, PMID:16783566, PMID:16980541, PMID:17052327, PMID:17855048, PMID:18414213, PMID:18792986, PMID:20358623, PMID:20684013, PMID:21390126, PMID:21680795, PMID:21796119, PMID:21932317, PMID:22591219, PMID:22832583, PMID:23334668, PMID:23685749, PMID:23778141, PMID:24088041, PMID:24728327, PMID:25108505, PMID:25388907, PMID:25599811, PMID:25741868, PMID:25741869, PMID:25805166, PMID:26087898, PMID:26486927, PMID:26603346, PMID:26619011, PMID:26633545, PMID:26788536, PMID:26956253, PMID:27165009, PMID:27257017, PMID:27257180, PMID:27311832, PMID:27342041, PMID:27899622, PMID:28492532, PMID:28523540, PMID:29460469, PMID:29551561, PMID:10673499 RGD:734820 NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039
JBrowse link
G Dnaja3 DnaJ heat shock protein family (Hsp40) member A3 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483, PMID:17855048, PMID:25805166, PMID:27257017, PMID:28492532 NCBI chr10:11,059,701...11,085,186
Ensembl chr10:11,060,313...11,085,210
JBrowse link
G Ep300 E1A binding protein p300 ISO DNA:nonsense mutation, deletions:exons, 5' utr:p.R648X, c.2877_2884del, c.-1200-?_94+?del (human)
ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2
DNA:nonsense mutation, deletions:multiple (human)
ClinVar Annotator: match by OMIM:613684
ClinVar
OMIM
PMID:10700188, PMID:11331617, PMID:12114483, PMID:13983033, PMID:15706485, PMID:16428436, PMID:17220215, PMID:17299436, PMID:18414213, PMID:18792986, PMID:19353645, PMID:20014264, PMID:20301699, PMID:20717166, PMID:21679367, PMID:24033266, PMID:24352918, PMID:24476420, PMID:24728327, PMID:25326635, PMID:25712426, PMID:25741868, PMID:26279656, PMID:26486927, PMID:27159028, PMID:27465822, PMID:27648933, PMID:27964710, PMID:28492532, PMID:29300383, PMID:29706646, PMID:30076641, PMID:32860008, PMID:15706485, PMID:17220215 RGD:1580966, RGD:7296921 NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296
JBrowse link
G Glis2 GLIS family zinc finger 2 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483, PMID:15706485, PMID:17855048, PMID:25805166, PMID:27257017, PMID:28492532 NCBI chr10:11,154,459...11,177,063
Ensembl chr10:11,154,658...11,174,861
JBrowse link
G Hmox2 heme oxygenase 2 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483, PMID:17855048, PMID:25805166, PMID:27257017, PMID:28492532 NCBI chr10:10,990,034...11,035,493
Ensembl chr10:10,990,034...11,035,484
JBrowse link
G LOC100361104 CG10869-like ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483, PMID:17855048, PMID:25805166, PMID:27257017, PMID:28492532 NCBI chr10:10,897,269...10,944,328 JBrowse link
G LOC360479 similar to hypothetical protein ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483, PMID:17855048, PMID:25805166, PMID:27257017, PMID:28492532 NCBI chr10:10,794,441...10,808,665
Ensembl chr10:10,794,445...10,808,585
JBrowse link
G Mgrn1 mahogunin ring finger 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483, PMID:17855048, PMID:25805166, PMID:27257017, PMID:28492532 NCBI chr10:10,832,573...10,881,999
Ensembl chr10:10,833,519...10,881,977
JBrowse link
G Nmral1 NmrA like redox sensor 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483, PMID:17855048, PMID:25805166, PMID:27257017, PMID:28492532 NCBI chr10:11,045,924...11,055,154
Ensembl chr10:11,046,024...11,055,158
JBrowse link
G Nudt16l1 nudix hydrolase 16 like 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483, PMID:17855048, PMID:25805166, PMID:27257017, PMID:28492532 NCBI chr10:10,829,866...10,831,782
Ensembl chr10:10,829,867...10,831,782
JBrowse link
G Pam16 presequence translocase associated motor 16 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483, PMID:17855048, PMID:25805166, PMID:27257017, PMID:28492532 NCBI chr10:11,146,359...11,153,936
Ensembl chr10:11,146,359...11,153,936
JBrowse link
G Rogdi rogdi atypical leucine zipper ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483, PMID:17855048, PMID:25805166, PMID:27257017, PMID:28492532 NCBI chr10:10,761,477...10,766,096
Ensembl chr10:10,761,477...10,766,095
JBrowse link
G Septin12 septin 12 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483, PMID:17855048, PMID:25805166, PMID:27257017, PMID:28492532 NCBI chr10:10,774,702...10,784,276
Ensembl chr10:10,774,639...10,784,277
JBrowse link
G Smim22 small integral membrane protein 22 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483, PMID:17855048, PMID:25805166, PMID:27257017, PMID:28492532 NCBI chr10:10,766,208...10,768,044
Ensembl chr10:10,766,208...10,767,389
JBrowse link
G Srl sarcalumenin ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483, PMID:15706485, PMID:17855048, PMID:25805166, PMID:27257017, PMID:28492532 NCBI chr10:11,240,135...11,284,325
Ensembl chr10:11,240,138...11,284,332
JBrowse link
G Tfap4 transcription factor AP-4 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483, PMID:15706485, PMID:17855048, PMID:25805166, PMID:27257017, PMID:28492532 NCBI chr10:11,204,616...11,222,975
Ensembl chr10:11,206,226...11,223,370
JBrowse link
G Ubald1 UBA-like domain containing 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483, PMID:17855048, PMID:25805166, PMID:27257017, PMID:28492532 NCBI chr10:10,889,435...10,894,200
Ensembl chr10:10,889,488...10,893,467
JBrowse link
G Vasn vasorin ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483, PMID:17855048, PMID:25805166, PMID:27257017, PMID:28492532 NCBI chr10:11,121,041...11,131,548
Ensembl chr10:11,121,041...11,131,548
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      chromosomal deletion syndrome 868
        Rubinstein-Taybi syndrome 22
          Chromosome 16p13.3 Deletion Syndrome 0
          Rubinstein Taybi like Syndrome 0
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          brain disease 8346
            disease of mental health 6016
              developmental disorder of mental health 3136
                specific developmental disorder 2310
                  intellectual disability 2131
                    Rubinstein-Taybi syndrome 22
                      Chromosome 16p13.3 Deletion Syndrome 0
                      Rubinstein Taybi like Syndrome 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.