Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.



show annotations for term's descendants           Sort by:
 
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:20890276 PMID:21559497 PMID:23408766 PMID:23933818 More... NCBI chr10:5,630,684...6,043,341
Ensembl chr10:5,631,369...6,044,637
JBrowse link
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:13,241,164...13,306,047
Ensembl chr 3:13,241,217...13,306,046
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17941
    Developmental Disease 12578
      Neurodevelopmental Disorders 5956
        intellectual disability 3724
          Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant 2
Path 2
Term Annotations click to browse term
  disease 17941
    disease of anatomical entity 17296
      nervous system disease 12917
        central nervous system disease 11044
          brain disease 10315
            disease of mental health 7310
              developmental disorder of mental health 4674
                specific developmental disorder 3912
                  communication disorder 281
                    agnosia 38
                      apraxia 23
                        Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant 2
paths to the root