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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 46
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Accession:DOID:0080456 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of intractable seizures, global developmental delay, failure to thrive, hypotonia, hyperreflexia, and variably impaired intellectual development that has_material_basis_in heterozygous mutation in the GRIN2D gene on chromosome 19q13. (DO)
Synonyms:exact_synonym: DEE46;   EIEE46;   GRIN2D-RELATED CONDITION;   early infantile epileptic encephalopathy 46
 primary_id: OMIM:617162
 xref: NCI:C177545


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developmental and epileptic encephalopathy 46 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GRIN2D glutamate ionotropic receptor NMDA type subunit 2D IAGP
EXP		 ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 46 | ClinVar Annotator: match by term: GRIN2D-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15970596 PMID:25741868 PMID:27616483 PMID:28492532 PMID:30280376 More... NCBI chr19:48,393,668...48,444,931
Ensembl chr19:48,393,668...48,444,931 		JBrowse link
G LOC130064855 ATAC-STARR-seq lymphoblastoid silent region 10879 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 46 ClinVar PMID:25741868 NCBI chr19:48,398,495...48,398,594 JBrowse link
G LOC130064857 ATAC-STARR-seq lymphoblastoid active region 14894 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 46
ClinVar Annotator: match by term: GRIN2D-related condition		 ClinVar PMID:25741868 PMID:27616483 PMID:28492532 NCBI chr19:48,419,484...48,419,723 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35754
    syndrome 18145
      electroclinical syndrome 1766
        developmental and epileptic encephalopathy 1321
          developmental and epileptic encephalopathy 46 3
Path 2
Term Annotations click to browse term
  disease 35754
    disease of anatomical entity 32493
      nervous system disease 26373
        central nervous system disease 23608
          brain disease 22047
            epilepsy 3694
              electroclinical syndrome 1766
                neonatal period electroclinical syndrome 1282
                  early infantile epileptic encephalopathy 1257
                    developmental and epileptic encephalopathy 46 3
paths to the root