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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:X-linked epilepsy with variable learning disabilities and behavior disorders
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Accession:DOID:0112122 term browser browse the term
Definition:An epilepsy characterized by epilepsy with variable learning disabilities and behavioral disorders in some patients that has_material_basis_in heterozygous or hemizygous mutation in the SYN1 gene on chromosome Xp11.3-p11.2. (DO)
Synonyms:exact_synonym: EPILX;   EPILX1;   X-linked bathing epilepsy;   X-linked epilepsy 1 with variable learning disabilities and behavior disorders;   X-linked epilepsy with reflex bathing seizures;   X-linked epilepsy-learning disabilities-behavior disorders syndrome
 xref: GARD:16748;   MESH:C564505;   MIM:300491;   MONDO:0010339;   ORDO:85294


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X-linked epilepsy with variable learning disabilities and behavior disorders term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Araf A-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ClinVar PMID:28492532 NCBI chr  X:3,780,932...3,845,919
Ensembl chr  X:3,780,932...3,792,611 		JBrowse link
G Syn1 synapsin I ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome 		OMIM
CTD
ClinVar		 PMID:9536098 PMID:14985377 PMID:15071120 PMID:16199547 PMID:17576681 More... NCBI chr  X:3,725,745...3,780,940
Ensembl chr  X:3,725,714...3,780,938 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    Developmental Disease 8303
      Neurodevelopmental Disorders 2634
        learning disability 81
          X-linked epilepsy with variable learning disabilities and behavior disorders 2
Path 2
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      nervous system disease 8528
        central nervous system disease 6393
          brain disease 5852
            disease of mental health 3944
              developmental disorder of mental health 2218
                specific developmental disorder 1593
                  communication disorder 240
                    learning disability 81
                      X-linked epilepsy with variable learning disabilities and behavior disorders 2
paths to the root