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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:9004553 term browser browse the term
Synonyms:primary_id: MESH:C564505
 alt_id: OMIM:300491;   RDO:0013447
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:10899172, PMID:12691665, PMID:14985377, PMID:15071120, PMID:20438797, PMID:21441247, PMID:23406870, PMID:23818987, PMID:23871722, PMID:25741868, PMID:25741869, PMID:26096837, PMID:26467025, PMID:27884173, PMID:28492532, PMID:28973667, PMID:30311386 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 16045
    Developmental Diseases 9510
      Neurodevelopmental Disorders 4582
        learning disability 88
          X-Linked Epilepsy, with Variable Learning Disabilities and Behavior Disorders 2
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          brain disease 8346
            disease of mental health 6016
              developmental disorder of mental health 3136
                specific developmental disorder 2310
                  communication disorder 293
                    learning disability 88
                      X-Linked Epilepsy, with Variable Learning Disabilities and Behavior Disorders 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.