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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:developmental and epileptic encephalopathy 56
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Accession:DOID:0080282 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by early-onset seizures in most patients, intellectual disability, and variable behavioral abnormalities that has_material_basis_in heterozygous mutation in the YWHAG gene on chromosome 7q11. (DO)
Synonyms:exact_synonym: EIEE56;   early infantile epileptic encephalopathy 56
 primary_id: OMIM:617665
 alt_id: DEE56
For additional species annotation, visit the Alliance of Genome Resources.



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developmental and epileptic encephalopathy 56 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ywhag tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56 ClinVar
OMIM
PMID:23934111 PMID:25741868 PMID:28777935 NCBI chr12:20,744,500...20,772,828
Ensembl chr12:20,744,535...20,772,827
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      electroclinical syndrome 704
        developmental and epileptic encephalopathy 532
          developmental and epileptic encephalopathy 56 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            epilepsy 2166
              electroclinical syndrome 704
                neonatal period electroclinical syndrome 539
                  early infantile epileptic encephalopathy 521
                    developmental and epileptic encephalopathy 56 1
paths to the root