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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;   RSTS1;   RSTS2;   Rubinstein Syndrome;   Rubinstein-Taybi syndrome 1;   Rubinstein-Taybi syndrome 2;   broad thumb hallux syndrome;   broad thumb-hallux syndromes;   proximal chromosome 16p13.3 deletion syndrome
 primary_id: MESH:D012415
 alt_id: OMIM:180849;   OMIM:610543;   OMIM:613684;   RDO:0000212
 xref: GARD:7593;   ORDO:783
For additional species annotation, visit the Alliance of Genome Resources.


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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 Crebbp CREB binding protein JBrowse link 10 11,590,994 11,721,039 RGD:734820
RGD:8554872
RGD:7240710
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 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      Rubinstein-Taybi syndrome 6
        Chromosome 16p13.3 Deletion Syndrome 0
        Rubinstein Taybi like Syndrome 0
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            disease of mental health 4314
              developmental disorder of mental health 2584
                specific developmental disorder 1319
                  intellectual disability 1146
                    Rubinstein-Taybi syndrome 6
                      Chromosome 16p13.3 Deletion Syndrome 0
                      Rubinstein Taybi like Syndrome 0
paths to the root