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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;   early infantile epileptic encephalopathy 46
 primary_id: OMIM:617162
 xref: NCI:C177545
For additional species annotation, visit the Alliance of Genome Resources.



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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 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 46 ClinVar
OMIM
PMID:25741868 PMID:27616483 PMID:30280376 PMID:32860008 NCBI chr 1:96,306,871...96,346,994
Ensembl chr 1:96,308,365...96,344,793
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    syndrome 8148
      electroclinical syndrome 702
        developmental and epileptic encephalopathy 531
          developmental and epileptic encephalopathy 46 1
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      nervous system disease 12130
        central nervous system disease 10402
          brain disease 9763
            epilepsy 2163
              electroclinical syndrome 702
                neonatal period electroclinical syndrome 539
                  early infantile epileptic encephalopathy 521
                    developmental and epileptic encephalopathy 46 1
paths to the root