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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: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.



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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
ClinVar
PMID:9536098 PMID:17576681 PMID:21067377 PMID:21518476 PMID:22160010 More... NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17208
    syndrome 8125
      Tatton-Brown-Rahman Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17208
    disease of anatomical entity 16554
      nervous system disease 12100
        central nervous system disease 10376
          brain disease 9740
            thalamic disease 227
              hypothalamic disease 227
                pituitary gland disease 172
                  hyperpituitarism 34
                    Gigantism 9
                      Tatton-Brown-Rahman Syndrome 1
paths to the root