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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:Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant
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Accession:DOID:9007175 term browser browse the term
Synonyms:exact_synonym: ADRESD;   RESDAD
 primary_id: MESH:C563392;   RDO:0012659
For additional species annotation, visit the Alliance of Genome Resources.


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Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant ClinVar PMID:18414213 PMID:23408766 PMID:23933818 PMID:23933819 PMID:23933820 PMID:25164438 PMID:25726841 PMID:25741868 PMID:25904555 PMID:26220384 PMID:26283219 PMID:26467025 PMID:26601054 PMID:27171548 PMID:27288002 PMID:27640074 PMID:27839871 PMID:28492532 PMID:29124671 PMID:29358611 NCBI chr10:5,707,806...6,123,568
Ensembl chr10:5,930,298...6,119,990
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Neurodevelopmental Disorders 4520
        intellectual disability 2163
          Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          brain disease 8372
            disease of mental health 5980
              developmental disorder of mental health 3114
                specific developmental disorder 2316
                  communication disorder 211
                    agnosia 24
                      apraxia 18
                        Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant 1
paths to the root