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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal dominant non-syndromic intellectual disability 18
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Accession:DOID:0070048 term browser browse the term
Definition:An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of GATAD2B on chromosome 1q21.3. (DO)
Synonyms:exact_synonym: GATAD2B-RELATED DISORDER;   MRD18;   autosomal dominant mental retardation 18
 primary_id: OMIM:615074
 alt_id: RDO:9000747
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autosomal dominant non-syndromic intellectual disability 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Creb3l4 cAMP responsive element binding protein 3-like 4 JBrowse link 2 189,596,657 189,602,243 RGD:8554872
G Crtc2 CREB regulated transcription coactivator 2 JBrowse link 2 189,615,928 189,625,646 RGD:8554872
G Dennd4b DENN domain containing 4B JBrowse link 2 189,626,922 189,642,732 RGD:8554872
G Gatad2b GATA zinc finger domain containing 2B JBrowse link 2 189,654,871 189,735,056 RGD:7240710
RGD:8554872
G Jtb jumping translocation breakpoint JBrowse link 2 189,591,707 189,595,926 RGD:8554872
G Nup210l nucleoporin 210-like JBrowse link 2 189,453,932 189,571,918 RGD:8554872
G Rab13 RAB13, member RAS oncogene family JBrowse link 2 189,581,209 189,586,358 RGD:8554872
G Rps27 ribosomal protein S27 JBrowse link 2 189,572,175 189,573,280 RGD:8554872
G Slc39a1 solute carrier family 39 member 1 JBrowse link 2 189,609,766 189,615,367 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15502
    Developmental Diseases 8872
      Neurodevelopmental Disorders 4162
        intellectual disability 1788
          non-syndromic intellectual disability 187
            autosomal dominant non-syndromic intellectual disability 107
              autosomal dominant non-syndromic intellectual disability 18 9
Path 2
Term Annotations click to browse term
  disease 15502
    disease of anatomical entity 14856
      nervous system disease 10270
        central nervous system disease 8409
          brain disease 7762
            disease of mental health 5617
              developmental disorder of mental health 2797
                specific developmental disorder 1964
                  intellectual disability 1788
                    non-syndromic intellectual disability 187
                      autosomal dominant non-syndromic intellectual disability 107
                        autosomal dominant non-syndromic intellectual disability 18 9
paths to the root

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