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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 SYN1 on chromosome Xp11.3-p11.2. (DO)
Synonyms:exact_synonym: EPILX;   X-linked epilepsy-learning disabilities-behavior disorders syndrome
 primary_id: MESH:C564505
 alt_id: OMIM:300491
 xref: ORDO:85294
For additional species annotation, visit the Alliance of Genome Resources.

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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 Syn1 synapsin I ISO ClinVar Annotator: match by term: Epilepsy, X-linked, with variable learning disabilities and behavior disorders
ClinVar Annotator: match by OMIM:300491		 OMIM
ClinVar		 PMID:14985377 PMID:21441247 PMID:23406870 PMID:23871722 PMID:25741868 PMID:25741869 PMID:26467025 PMID:27884173 PMID:28492532 PMID:28973667 PMID:31969655 NCBI chr  X:1,321,315...1,379,202
Ensembl chr  X:1,321,315...1,379,198 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO ClinVar Annotator: match by term: Epilepsy, X-linked, with variable learning disabilities and behavior disorders ClinVar PMID:28492532 NCBI chr  X:1,364,771...1,369,451
Ensembl chr  X:1,364,786...1,369,384 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Neurodevelopmental Disorders 4534
        learning disability 76
          X-linked epilepsy with variable learning disabilities and behavior disorders 2
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          brain disease 8405
            disease of mental health 5990
              developmental disorder of mental health 3124
                specific developmental disorder 2322
                  communication disorder 203
                    learning disability 76
                      X-linked epilepsy with variable learning disabilities and behavior disorders 2
paths to the root