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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:0112339 term browser browse the term
Definition:A syndromic intellectual disability characterized by tall stature, a distinctive facial appearance, and impaired intellectual development that has_material_basis_in heterozygous mutation in DNMT3A on chromosome 2p23.3. (DO)
Synonyms:exact_synonym: DNMT3A overgrowth syndrome;   DOS;   TBRS;   Tatton-Brown-Rahman overgrowth syndrome
 primary_id: OMIM:615879
 alt_id: DOID:9007831
 xref: ORDO:404443
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 18109
    syndrome 9634
      Tatton-Brown-Rahman syndrome 1
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      nervous system disease 13146
        central nervous system disease 11274
          brain disease 10560
            thalamic disease 310
              hypothalamic disease 310
                pituitary gland disease 173
                  hyperpituitarism 35
                    Gigantism 10
                      Tatton-Brown-Rahman syndrome 1
paths to the root