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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 the DNMT3A gene 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


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 ABHD1 abhydrolase domain containing 1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:27,122,572...27,129,787
Ensembl chr2A:27,211,963...27,219,013 		JBrowse link
G ADCY3 adenylate cyclase 3 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chr2A:24,812,729...24,913,539
Ensembl chr2A:24,908,108...25,009,163 		JBrowse link
G ADGRF3 adhesion G protein-coupled receptor F3 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:26,303,414...26,345,041 JBrowse link
G AGBL5 AGBL carboxypeptidase 5 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:27,050,510...27,069,661
Ensembl chr2A:27,139,729...27,158,538 		JBrowse link
G ASXL2 ASXL transcriptional regulator 2 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chr2A:25,730,155...25,880,089
Ensembl chr2A:25,832,527...25,973,659 		JBrowse link
G ATRAID all-trans retinoic acid induced differentiation factor ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:27,213,556...27,218,552
Ensembl chr2A:27,301,175...27,306,294 		JBrowse link
G BABAM2 BRISC and BRCA1 A complex member 2 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:27,884,907...28,338,302
Ensembl chr2A:27,974,917...28,420,519 		JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:27,218,699...27,245,156
Ensembl chr2A:27,306,527...27,332,804 		JBrowse link
G CCDC121 coiled-coil domain containing 121 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:27,622,385...27,626,907
Ensembl chr2A:27,709,782...27,713,085 		JBrowse link
G CENPA centromere protein A ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:26,785,301...26,800,178 JBrowse link
G CENPO centromere protein O ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chr2A:24,786,694...24,815,926 JBrowse link
G CGREF1 cell growth regulator with EF-hand domain 1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:27,098,387...27,118,129
Ensembl chr2A:27,188,352...27,199,407 		JBrowse link
G CIB4 calcium and integrin binding family member 4 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:26,578,051...26,670,672 JBrowse link
G CIMIP2C ciliary microtubule inner protein 2C ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:26,558,826...26,578,005
Ensembl chr2A:26,651,283...26,668,192 		JBrowse link
G DNAJC27 DnaJ heat shock protein family (Hsp40) member C27 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chr2A:24,937,091...24,965,423
Ensembl chr2A:25,032,836...25,061,149 		JBrowse link
G DNAJC5G DnaJ heat shock protein family (Hsp40) member C5 gamma ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:27,276,795...27,282,874
Ensembl chr2A:27,364,880...27,370,848 		JBrowse link
G DNMT3A DNA methyltransferase 3 alpha ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome OMIM
ClinVar		 PMID:9536098 PMID:11836534 PMID:15456878 PMID:16199547 PMID:17576681 More... NCBI chr2A:25,229,593...25,344,733
Ensembl chr2A:25,331,095...25,412,605 		JBrowse link
G DPYSL5 dihydropyrimidinase like 5 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:26,847,309...26,949,737
Ensembl chr2A:26,987,649...27,035,748 		JBrowse link
G DRC1 dynein regulatory complex subunit 1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:26,399,275...26,453,518
Ensembl chr2A:26,491,900...26,545,640 		JBrowse link
G DTNB dystrobrevin beta ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chr2A:25,378,862...25,675,556
Ensembl chr2A:25,476,274...25,749,937 		JBrowse link
G EFR3B EFR3 homolog B ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chr2A:25,035,897...25,159,074
Ensembl chr2A:25,174,016...25,251,617 		JBrowse link
G EIF2B4 eukaryotic translation initiation factor 2B subunit delta ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:27,368,189...27,374,265
Ensembl chr2A:27,456,457...27,462,706 		JBrowse link
G EMILIN1 elastin microfibril interfacer 1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:27,077,551...27,085,437
Ensembl chr2A:27,166,747...27,174,525 		JBrowse link
G FNDC4 fibronectin type III domain containing 4 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:27,494,396...27,497,747
Ensembl chr2A:27,583,044...27,585,288 		JBrowse link
G FOSL2 FOS like 2, AP-1 transcription factor subunit ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:28,392,328...28,416,838
Ensembl chr2A:28,485,613...28,498,397 		JBrowse link
G GAREM2 GRB2 associated regulator of MAPK1 subtype 2 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:26,168,328...26,184,967 JBrowse link
G GCKR glucokinase regulator ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:27,497,938...27,530,650
Ensembl chr2A:27,587,077...27,613,927 		JBrowse link
G GPN1 GPN-loop GTPase 1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:27,626,795...27,648,753
Ensembl chr2A:27,712,850...27,734,795 		JBrowse link
G GTF3C2 general transcription factor IIIC subunit 2 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:27,327,927...27,359,565
Ensembl chr2A:27,415,494...27,447,584 		JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:26,185,938...26,240,229
Ensembl chr2A:26,279,995...26,334,068 		JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:26,240,365...26,285,982
Ensembl chr2A:26,334,043...26,379,059 		JBrowse link
G IFT172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:27,448,139...27,492,302
Ensembl chr2A:27,536,534...27,580,406 		JBrowse link
G ITSN2 intersectin 2 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chr2A:24,199,600...24,354,314
Ensembl chr2A:24,297,373...24,419,593 		JBrowse link
G KCNK3 potassium two pore domain channel subfamily K member 3 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:26,688,938...26,729,860
Ensembl chr2A:26,780,475...26,819,123 		JBrowse link
G KHK ketohexokinase ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:27,085,758...27,099,768
Ensembl chr2A:27,174,896...27,189,308 		JBrowse link
G KIF3C kinesin family member 3C ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:25,927,039...25,982,715
Ensembl chr2A:26,020,025...26,074,961 		JBrowse link
G KRTCAP3 keratinocyte associated protein 3 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:27,446,103...27,448,063
Ensembl chr2A:27,534,571...27,536,458 		JBrowse link
G MAPRE3 microtubule associated protein RP/EB family member 3 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:26,970,010...27,026,223
Ensembl chr2A:27,102,780...27,115,223 		JBrowse link
G MPV17 mitochondrial inner membrane protein MPV17 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:27,311,551...27,325,249
Ensembl chr2A:27,399,258...27,414,090 		JBrowse link
G MRPL33 mitochondrial ribosomal protein L33 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:27,769,235...27,777,327
Ensembl chr2A:27,853,970...27,861,994 		JBrowse link
G NCOA1 nuclear receptor coactivator 1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chr2A:24,485,068...24,764,135
Ensembl chr2A:24,733,117...24,859,488 		JBrowse link
G NRBP1 nuclear receptor binding protein 1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:27,432,108...27,446,021
Ensembl chr2A:27,525,435...27,534,420 		JBrowse link
G OST4 oligosaccharyltransferase complex subunit 4, non-catalytic ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:27,069,526...27,070,789
Ensembl chr2A:27,159,261...27,159,374 		JBrowse link
G OTOF otoferlin ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:26,454,010...26,555,642
Ensembl chr2A:26,546,959...26,647,278 		JBrowse link
G PLB1 phospholipase B1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:28,502,449...28,650,348
Ensembl chr2A:28,584,636...28,730,640 		JBrowse link
G POMC proopiomelanocortin ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 PMID:32435502 NCBI chr2A:25,161,668...25,165,600
Ensembl chr2A:25,258,768...25,262,706 		JBrowse link
G PPM1G protein phosphatase, Mg2+/Mn2+ dependent 1G ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:27,385,072...27,413,475
Ensembl chr2A:27,473,480...27,502,384 		JBrowse link
G PPP1CB protein phosphatase 1 catalytic subunit beta ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:28,758,176...28,809,561
Ensembl chr2A:28,862,083...28,889,401 		JBrowse link
G PREB prolactin regulatory element binding ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:27,129,731...27,133,645
Ensembl chr2A:27,218,957...27,222,876 		JBrowse link
G PRR30 proline rich 30 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:27,135,847...27,139,150 JBrowse link
G PTRHD1 peptidyl-tRNA hydrolase domain containing 1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chr2A:24,783,531...24,786,971
Ensembl chr2A:24,878,810...24,882,328 		JBrowse link
G RAB10 RAB10, member RAS oncogene family ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:26,034,046...26,132,658
Ensembl chr2A:26,125,985...26,228,505 		JBrowse link
G RBKS ribokinase ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:27,779,074...27,886,586
Ensembl chr2A:27,863,731...27,970,949 		JBrowse link
G SELENOI selenoprotein I ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:26,344,856...26,393,359
Ensembl chr2A:26,437,503...26,479,093 		JBrowse link
G SLC30A3 solute carrier family 30 member 3 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:27,255,944...27,276,720
Ensembl chr2A:27,344,045...27,353,543 		JBrowse link
G SLC35F6 solute carrier family 35 member F6 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:26,762,690...26,780,492
Ensembl chr2A:26,854,078...26,871,820 		JBrowse link
G SLC4A1AP solute carrier family 4 member 1 adaptor protein ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:27,661,396...27,692,923
Ensembl chr2A:27,747,433...27,778,466 		JBrowse link
G SLC5A6 solute carrier family 5 member 6 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:27,199,422...27,213,650
Ensembl chr2A:27,288,726...27,301,896 		JBrowse link
G SNX17 sorting nexin 17 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:27,374,340...27,380,999
Ensembl chr2A:27,462,726...27,469,409 		JBrowse link
G SPATA31H1 SPATA31 subfamily H member 1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:27,574,600...27,580,509 JBrowse link
G SUPT7L SPT7 like, STAGA complex subunit gamma ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:27,648,724...27,661,760
Ensembl chr2A:27,734,763...27,747,802 		JBrowse link
G TCF23 transcription factor 23 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:27,148,122...27,152,006
Ensembl chr2A:27,237,282...27,241,149 		JBrowse link
G TMEM214 transmembrane protein 214 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:27,031,986...27,040,699
Ensembl chr2A:27,121,040...27,129,798 		JBrowse link
G TRIM54 tripartite motif containing 54 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:27,281,950...27,309,495
Ensembl chr2A:27,370,903...27,397,214 		JBrowse link
G UCN urocortin ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:27,309,458...27,311,268
Ensembl chr2A:27,397,295...27,397,669 		JBrowse link
G ZNF512 zinc finger protein 512 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:27,580,956...27,620,982
Ensembl chr2A:27,667,868...27,707,230 		JBrowse link
G ZNF513 zinc finger protein 513 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr2A:27,381,102...27,384,980
Ensembl chr2A:27,469,512...27,473,068 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    syndrome 10173
      Tatton-Brown-Rahman syndrome 67
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15264
      nervous system disease 13298
        central nervous system disease 11928
          brain disease 11210
            disease of mental health 8118
              developmental disorder of mental health 5549
                specific developmental disorder 4512
                  intellectual disability 4323
                    syndromic intellectual disability 784
                      Tatton-Brown-Rahman syndrome 67
paths to the root