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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 67
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Accession:DOID:0112203 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by onset in the first months of lifes of seizures, global developmental delay with impaired motor and intellectual development, poor or absent speech, movement disorders, and stereotypic or autistic behavior that has_material_basis_in heterozygous mutation in CUX2 on chromosome 12q24.11-q24.12. (DO)
Synonyms:exact_synonym: DEE67;   EIEE67;   early infantile epileptic encephalopathy 67
 primary_id: OMIM:618141
For additional species annotation, visit the Alliance of Genome Resources.


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developmental and epileptic encephalopathy 67 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cux2 cut-like homeobox 2 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 67
OMIM
ClinVar
PMID:20404132 PMID:23020937 PMID:25741868 PMID:28628100 PMID:29630738 More... NCBI chr12:34,507,723...34,707,581
Ensembl chr12:34,520,959...34,705,806
JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67 ClinVar PMID:20404132 NCBI chr12:34,749,849...34,753,616
Ensembl chr12:34,731,911...34,753,616
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    syndrome 8125
      electroclinical syndrome 699
        developmental and epileptic encephalopathy 529
          developmental and epileptic encephalopathy 67 2
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        central nervous system disease 10373
          brain disease 9736
            epilepsy 2154
              electroclinical syndrome 699
                neonatal period electroclinical syndrome 536
                  early infantile epileptic encephalopathy 519
                    developmental and epileptic encephalopathy 67 2
paths to the root