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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 58
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Accession:DOID:0080285 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of infantile spasms and refractory seizures, global developmental delay, and impaired intellectual development that has_material_basis_in heterozygous mutation in the NTRK2 gene on chromosome 9q21. (DO)
Synonyms:exact_synonym: DEE58;   EIEE58;   early infantile epileptic encephalopathy 58
 broad_synonym: NTRK2-RELATED CONDITION
 primary_id: OMIM:617830

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developmental and epileptic encephalopathy 58 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ntrk2 neurotrophic receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 58 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29100083 NCBI chrNW_004936680:267,850...621,467
Ensembl chrNW_004936680:267,596...615,928 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9491
      electroclinical syndrome 1253
        developmental and epileptic encephalopathy 905
          developmental and epileptic encephalopathy 58 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      nervous system disease 12341
        central nervous system disease 11056
          brain disease 10378
            epilepsy 2624
              electroclinical syndrome 1253
                neonatal period electroclinical syndrome 878
                  early infantile epileptic encephalopathy 857
                    developmental and epileptic encephalopathy 58 1
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