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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 41
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Accession:DOID:0080442 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, severely impaired psychomotor development, and brain anomalies including delayed myelination, thin corpus callosum, and cerebral atrophy that has_material_basis_in heterozygous mutation in the SLC1A2 gene on chromosome 11p13. (DO)
Synonyms:exact_synonym: DEE41;   EIEE41;   early infantile epileptic encephalopathy 41
 primary_id: OMIM:617105
For additional species annotation, visit the Alliance of Genome Resources.


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developmental and epileptic encephalopathy 41 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc1a2 solute carrier family 1 member 2 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 41
ClinVar
OMIM
PMID:23107647 PMID:23934111 PMID:24214974 PMID:25741868 PMID:27476654 More... NCBI chr 3:89,005,129...89,126,498
Ensembl chr 3:89,005,129...89,126,498
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    syndrome 8126
      electroclinical syndrome 699
        developmental and epileptic encephalopathy 529
          developmental and epileptic encephalopathy 41 1
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      nervous system disease 12101
        central nervous system disease 10378
          brain disease 9741
            epilepsy 2155
              electroclinical syndrome 699
                neonatal period electroclinical syndrome 536
                  early infantile epileptic encephalopathy 519
                    developmental and epileptic encephalopathy 41 1
paths to the root