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RGD uses the Human Disease Ontology (DO, 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:Tatton-Brown-Rahman Syndrome
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Accession:DOID:9007831 term browser browse the term
Definition:A disorder characterized by tall stature, a distinctive facial appearance, and intellectual disability. (OMIM)
Synonyms:exact_synonym: TBRS
 primary_id: OMIM:615879
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
Tatton-Brown-Rahman Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnmt3a DNA methyltransferase 3 alpha ISO ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome OMIM
PMID:1423634, PMID:2717398, PMID:10325416, PMID:10433969, PMID:10555141, PMID:10647011, PMID:11399089, PMID:12138111, PMID:12359337, PMID:12575993, PMID:15063176, PMID:15672446, PMID:15739230, PMID:16357870, PMID:16501171, PMID:16725135, PMID:17445268, PMID:17878930, PMID:19344873, PMID:19854944, PMID:20228804, PMID:20651149, PMID:20729844, PMID:21067377, PMID:21507354, PMID:21518476, PMID:21844811, PMID:22160010, PMID:22495306, PMID:22722925, PMID:22744846, PMID:22898539, PMID:23849776, PMID:24606448, PMID:24614070, PMID:24622842, PMID:24656771, PMID:24728327, PMID:25741868, PMID:26619011, PMID:26866722, PMID:26876596, PMID:27317772, PMID:27701732, PMID:27991732, PMID:28263302, PMID:28386848, PMID:28475857, PMID:28492532, PMID:28667884, PMID:28941052, PMID:29900417, PMID:32860008 NCBI chr 6:28,205,375...28,346,052
Ensembl chr 6:28,235,695...28,340,577
JBrowse link
G Dpp6 dipeptidyl peptidase like 6 ISO ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:25741868 NCBI chr 4:4,021,021...4,943,675
Ensembl chr 4:4,021,008...4,473,307
JBrowse link
G Eif3f eukaryotic translation initiation factor 3, subunit F ISO ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:25741868, PMID:30311386, PMID:30409806 NCBI chr 1:173,532,826...173,541,806
Ensembl chr 1:173,532,803...173,541,847
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      Tatton-Brown-Rahman Syndrome 3
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            thalamic disease 213
              hypothalamic disease 213
                pituitary gland disease 167
                  hyperpituitarism 37
                    Gigantism 11
                      Tatton-Brown-Rahman Syndrome 3
paths to the root


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