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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal dominant non-syndromic intellectual disability 27
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Accession:DOID:0070057 term browser browse the term
Definition:An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of SOX11 on chromosome 2p25.2. (DO)
Synonyms:exact_synonym: CSS9;   Coffin-Siris syndrome-9;   MRD27;   autosomal dominant mental retardation 27
 primary_id: OMIM:615866
 alt_id: RDO:9001651
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autosomal dominant non-syndromic intellectual disability 27 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sox11 SRY-box transcription factor 11 JBrowse link 6 46,629,967 46,631,988 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15599
    syndrome 5135
      Coffin-Siris syndrome 11
        autosomal dominant non-syndromic intellectual disability 27 1
Path 2
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 0
      nervous system disease 10203
        central nervous system disease 8080
          brain disease 7549
            disease of mental health 5500
              developmental disorder of mental health 2691
                specific developmental disorder 1858
                  intellectual disability 1687
                    non-syndromic intellectual disability 184
                      autosomal dominant non-syndromic intellectual disability 105
                        Coffin-Siris syndrome 11
                          autosomal dominant non-syndromic intellectual disability 27 1
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.