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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;   X-linked Rolandic epilepsy, impaired intellectual development, and speech dyspraxia
 primary_id: MESH:C564467
 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 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:23352160 PMID:23831613 PMID:23871722 More... NCBI chr  X:97,106,455...97,132,197
Ensembl chr  X:97,106,561...97,132,195
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    Developmental Disease 11133
      Neurodevelopmental Disorders 5760
        intellectual disability 3492
          Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked 1
Path 2
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      nervous system disease 12209
        central nervous system disease 10477
          brain disease 9840
            disease of mental health 7119
              developmental disorder of mental health 4434
                specific developmental disorder 3680
                  communication disorder 259
                    language disorder 110
                      speech disorder 68
                        Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked 1
paths to the root