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
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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 14823
    Developmental Diseases 7637
      Neurodevelopmental Disorders 2755
        stereotypic movement disorder 3
          autosomal dominant mental retardation 20 1
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        central nervous system disease 6908
          brain disease 6412
            disease of mental health 4323
              developmental disorder of mental health 2594
                specific developmental disorder 1329
                  communication disorder 214
                    language disorder 138
                      speech disorder 48
                        autosomal dominant mental retardation 20 1
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