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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal dominant non-syndromic intellectual disability 6
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Accession:DOID:0070036 term browser browse the term
Definition:An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of GRIN2B on chromosome 12p13.1. (DO)
Synonyms:exact_synonym: MRD6;   Mental Retardation, Autosomal Dominant 6, with or without seizures;   autosomal dominant mental retardation 6
 broad_synonym: GRIN2B-RELATED DISORDER
 primary_id: OMIM:613970
 alt_id: RDO:9000545
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autosomal dominant non-syndromic intellectual disability 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B JBrowse link 4 169,541,620 170,000,216 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      nervous system disease 10224
        Neurologic Manifestations 3595
          visual epilepsy 647
            autosomal dominant non-syndromic intellectual disability 6 1
Path 2
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      nervous system disease 10224
        central nervous system disease 8102
          brain disease 7571
            disease of mental health 5520
              developmental disorder of mental health 2712
                specific developmental disorder 1884
                  intellectual disability 1706
                    non-syndromic intellectual disability 183
                      autosomal dominant non-syndromic intellectual disability 105
                        autosomal dominant non-syndromic intellectual disability 6 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.