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ONTOLOGY REPORT - ANNOTATIONS


Term:Rubinstein-Taybi syndrome
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Accession:DOID:1933 term browser browse the term
Definition:A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon. The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3).
Synonyms:exact_synonym: Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation;   RSTS;   RSTS1;   RSTS2;   Rubinstein Syndrome;   Rubinstein-Taybi syndrome 1;   Rubinstein-Taybi syndrome 2;   broad thumb hallux syndrome;   broad thumb-hallux syndromes
 primary_id: MESH:D012415
 alt_id: OMIM:180849;   OMIM:613684;   RDO:0000212
 xref: GARD:7593;   NCI:C75466;   OMIM:PS180849;   ORDO:783
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Rubinstein-Taybi syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adcy9 adenylate cyclase 9 JBrowse link 10 11,392,698 11,515,406 RGD:8554872
G Anks3 ankyrin repeat and sterile alpha motif domain containing 3 JBrowse link 10 10,808,780 10,829,507 RGD:8554872
G Cdip1 cell death-inducing p53 target 1 JBrowse link 10 10,966,819 10,989,937 RGD:8554872
G Coro7 coronin 7 JBrowse link 10 11,090,200 11,144,289 RGD:8554872
G Crebbp CREB binding protein JBrowse link 10 11,590,994 11,721,039 RGD:734820
RGD:8554872
RGD:7240710
G Dnaja3 DnaJ heat shock protein family (Hsp40) member A3 JBrowse link 10 11,059,701 11,085,186 RGD:8554872
G Ep300 E1A binding protein p300 JBrowse link 7 122,818,194 122,889,055 RGD:1580966
RGD:8554872
RGD:7240710
RGD:7296921
G Glis2 GLIS family zinc finger 2 JBrowse link 10 11,154,459 11,177,063 RGD:8554872
G Hmox2 heme oxygenase 2 JBrowse link 10 10,990,034 11,035,493 RGD:8554872
G LOC100361104 CG10869-like JBrowse link 10 10,897,269 10,944,328 RGD:8554872
G LOC360479 similar to hypothetical protein JBrowse link 10 10,794,441 10,808,665 RGD:8554872
G Mgrn1 mahogunin ring finger 1 JBrowse link 10 10,832,573 10,881,999 RGD:8554872
G Nmral1 NmrA like redox sensor 1 JBrowse link 10 11,045,924 11,055,154 RGD:8554872
G Nudt16l1 nudix hydrolase 16 like 1 JBrowse link 10 10,829,866 10,831,782 RGD:8554872
G Pam16 presequence translocase associated motor 16 JBrowse link 10 11,146,359 11,153,936 RGD:8554872
G Rogdi rogdi atypical leucine zipper JBrowse link 10 10,761,477 10,766,096 RGD:8554872
G Septin12 septin 12 JBrowse link 10 10,774,702 10,784,276 RGD:8554872
G Smim22 small integral membrane protein 22 JBrowse link 10 10,766,208 10,768,044 RGD:8554872
G Srl sarcalumenin JBrowse link 10 11,240,135 11,284,325 RGD:8554872
G Tfap4 transcription factor AP-4 JBrowse link 10 11,204,616 11,222,975 RGD:8554872
G Ubald1 UBA-like domain containing 1 JBrowse link 10 10,889,435 10,894,200 RGD:8554872
G Vasn vasorin JBrowse link 10 11,121,041 11,131,548 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      Rubinstein-Taybi syndrome 22
        Chromosome 16p13.3 Deletion Syndrome 0
        Rubinstein Taybi like Syndrome 0
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          brain disease 7561
            disease of mental health 5514
              developmental disorder of mental health 2709
                specific developmental disorder 1880
                  intellectual disability 1703
                    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.