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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 2 with or without Impaired Intellectual Development and Dysmorphic Features
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Accession:DOID:9005494 term browser browse the term
Definition:A neurologic disorder characterized by the onset of seizures usually in the first years of life, although later onset may also occur. Caused by hemizygous or heterozygous mutation in the GABRA3 gene on chromosome Xq28.
Synonyms:exact_synonym: EPILX2
 primary_id: OMIM:301091



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X-linked Epilepsy 2 with or without Impaired Intellectual Development and Dysmorphic Features term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabra3 gamma-aminobutyric acid type A receptor subunit alpha 3 ISO ClinVar Annotator: match by term: Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features OMIM
ClinVar
PMID:25741868 PMID:27572814 PMID:29053855 NCBI chr  X:150,244,745...150,501,566
Ensembl chr  X:150,261,607...150,501,559
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21147
    Developmental Disease 18462
      Neurodevelopmental Disorders 6817
        learning disability 208
          X-linked Epilepsy 2 with or without Impaired Intellectual Development and Dysmorphic Features 1
Path 2
Term Annotations click to browse term
  disease 21147
    disease of anatomical entity 18195
      nervous system disease 14024
        central nervous system disease 12380
          brain disease 11617
            disease of mental health 8285
              developmental disorder of mental health 5524
                specific developmental disorder 4487
                  communication disorder 389
                    learning disability 208
                      X-linked Epilepsy 2 with or without Impaired Intellectual Development and Dysmorphic Features 1
paths to the root