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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, X-Linked
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Accession:DOID:9008407 term browser browse the term
Synonyms:exact_synonym: RESDX;   X-Linked Rolandic Epilepsy With Mental Retardation And Speech Dyspraxia
 primary_id: MESH:C564467;   RDO:0013415
 alt_id: OMIM:300643
For additional species annotation, visit the Alliance of Genome Resources.

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Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srpx2 sushi-repeat-containing protein, X-linked 2 ISO ClinVar Annotator: match by OMIM:300643
ClinVar Annotator: match by term: Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked
ClinVar Annotator: match by term: X-linked rolandic epilepsy with mental retardation and speech dyspraxia		 OMIM
ClinVar		 PMID:16497722 PMID:18718938 PMID:23831613 PMID:23871722 PMID:23933820 PMID:24995671 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:104,734,035...104,760,658
Ensembl chr  X:104,734,082...104,760,547 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Neurodevelopmental Disorders 4657
        intellectual disability 2190
          Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          brain disease 8448
            disease of mental health 6088
              developmental disorder of mental health 3187
                specific developmental disorder 2367
                  communication disorder 298
                    language disorder 208
                      speech disorder 75
                        Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked 1
paths to the root