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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal dominant mental retardation 49
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Accession:DOID:0080234 term browser browse the term
Definition:An autosomal dominant non-syndromic intellectual disability that has_material_basis_in heterozygous mutation in the TRIP12 gene on chromosome 2q36. (DO)
Synonyms:exact_synonym: Baraitser Syndrome;   CLABARS;   Clark-Baraitser Syndrome;   MRD49
 primary_id: MESH:C536208
 alt_id: DOID:9002459;   OMIM:617752
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autosomal dominant mental retardation 49 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trio trio Rho guanine nucleotide exchange factor JBrowse link 2 80,471,398 80,769,313 RGD:8554872
G Trip12 thyroid hormone receptor interactor 12 JBrowse link 9 92,305,059 92,435,388 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15992
    syndrome 6097
      autosomal dominant mental retardation 49 2
Path 2
Term Annotations click to browse term
  disease 15992
    disease of anatomical entity 15263
      nervous system disease 10756
        central nervous system disease 8844
          brain disease 8133
            disease of mental health 5763
              developmental disorder of mental health 2915
                specific developmental disorder 2082
                  intellectual disability 1923
                    non-syndromic intellectual disability 248
                      autosomal dominant non-syndromic intellectual disability 168
                        autosomal dominant mental retardation 49 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.