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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 28
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Accession:DOID:0080452 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severe axial hypotonia, and profoundly impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the WWOX gene on chromosome 16q23. (DO)
Synonyms:exact_synonym: DEE28;   EIEE28;   early infantile epileptic encephalopathy 28
 primary_id: OMIM:616211
For additional species annotation, visit the Alliance of Genome Resources.


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developmental and epileptic encephalopathy 28 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Maf MAF bZIP transcription factor ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 28 ClinVar PMID:25741868 NCBI chr19:48,179,826...48,200,995
Ensembl chr19:48,194,804...48,196,748
JBrowse link
G Ncf2 neutrophil cytosolic factor 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 28 ClinVar PMID:16937026 PMID:23821607 PMID:25741868 PMID:28492532 NCBI chr13:70,226,441...70,259,019
Ensembl chr13:70,226,647...70,257,576
JBrowse link
G Wwox WW domain-containing oxidoreductase ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 28 ClinVar
OMIM
PMID:24456803 PMID:25411445 PMID:25558065 PMID:25741868 PMID:27717089 PMID:28492532 PMID:29358611 PMID:29808465 PMID:29852413 PMID:30853297 NCBI chr19:46,761,353...47,695,247 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    syndrome 7575
      electroclinical syndrome 655
        developmental and epileptic encephalopathy 493
          developmental and epileptic encephalopathy 28 3
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        central nervous system disease 10197
          brain disease 9570
            epilepsy 1878
              electroclinical syndrome 655
                neonatal period electroclinical syndrome 495
                  early infantile epileptic encephalopathy 486
                    developmental and epileptic encephalopathy 28 3
paths to the root