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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal dominant mental retardation 20
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Accession:DOID:0070050 term browser browse the term
Definition:An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of MEF2C on chromosome 5q14.3. (DO)
Synonyms:exact_synonym: INTELLECTUAL DISABILITY, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS;   MEF2C-RELATED DISORDER;   MRD20;   Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
 narrow_synonym: MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS CHROMOSOME 5q14.3 DELETION SYNDROME, PROXIMAL
 primary_id: OMIM:613443
 alt_id: RDO:0009836
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal dominant mental retardation 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mef2c myocyte enhancer factor 2C JBrowse link 2 11,658,534 11,822,788 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15590
    Developmental Diseases 8723
      Neurodevelopmental Disorders 4047
        stereotypic movement disorder 3
          autosomal dominant mental retardation 20 1
Path 2
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      nervous system disease 10196
        central nervous system disease 8075
          brain disease 7543
            disease of mental health 5494
              developmental disorder of mental health 2688
                specific developmental disorder 1856
                  communication disorder 212
                    language disorder 136
                      speech disorder 49
                        autosomal dominant mental retardation 20 1
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