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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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.


show annotations for term's descendants           Sort by:
 
autosomal dominant mental retardation 20 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mef2c myocyte enhancer factor 2C ISO ClinVar Annotator: match by OMIM:613443
ClinVar Annotator: match by term: Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
OMIM
ClinVar
PMID:7679508, PMID:18414213, PMID:19592390, PMID:19876902, PMID:20333642, PMID:20513142, PMID:22031302, PMID:23001426, PMID:24088041, PMID:25741868, PMID:25741869, PMID:26633545, PMID:27255693, PMID:27748065, PMID:28492532, PMID:28554332, PMID:29706646, PMID:30376817 NCBI chr 2:11,658,534...11,822,788
Ensembl chr 2:11,658,568...11,822,787
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Neurodevelopmental Disorders 4582
        stereotypic movement disorder 3
          autosomal dominant mental retardation 20 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            disease of mental health 6015
              developmental disorder of mental health 3136
                specific developmental disorder 2310
                  communication disorder 293
                    language disorder 206
                      speech disorder 75
                        autosomal dominant mental retardation 20 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.