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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;   SLC1A2-RELATED CONDITION;   early infantile epileptic encephalopathy 41
 primary_id: OMIM:617105


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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: Developmental and epileptic encephalopathy, 41 | ClinVar Annotator: match by term: SLC1A2-related condition OMIM
ClinVar
PMID:23107647 PMID:23934111 PMID:24214974 PMID:25741868 PMID:27476654 More... NCBI chrNW_004936533:2,779,650...2,918,640
Ensembl chrNW_004936533:2,779,518...2,918,298
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9443
      electroclinical syndrome 1252
        developmental and epileptic encephalopathy 905
          developmental and epileptic encephalopathy 41 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14107
      nervous system disease 12321
        central nervous system disease 11034
          brain disease 10356
            epilepsy 2619
              electroclinical syndrome 1252
                neonatal period electroclinical syndrome 877
                  early infantile epileptic encephalopathy 857
                    developmental and epileptic encephalopathy 41 1
paths to the root