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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 72
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Accession:DOID:0112208 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by onset around 5 months of age of infantile spasms, hypsarrhythmia on EEG, and severely delayed psychomotor development with impaired or absent walking and language skills that has_material_basis_in heterozygous mutation in the NEUROD2 gene on chromosome 17q12. (DO)
Synonyms:exact_synonym: DEE72;   EIEE72;   early infantile epileptic encephalopathy 72
 primary_id: OMIM:618374


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developmental and epileptic encephalopathy 72 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Neurod2 neuronal differentiation 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 72 OMIM
ClinVar		 PMID:25741868 PMID:30323019 NCBI chr10:83,323,801...83,327,986
Ensembl chr10:83,324,442...83,327,986 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      electroclinical syndrome 1351
        developmental and epileptic encephalopathy 976
          developmental and epileptic encephalopathy 72 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            epilepsy 2802
              electroclinical syndrome 1351
                neonatal period electroclinical syndrome 950
                  early infantile epileptic encephalopathy 929
                    developmental and epileptic encephalopathy 72 1
paths to the root