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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
 xref: MONDO:0014533;   NCI:C189273


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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 Clec3a C-type lectin domain family 3, member A ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 ClinVar NCBI chr19:42,404,628...42,412,008
Ensembl chr19:42,404,628...42,412,008 		JBrowse link
G Maf MAF bZIP transcription factor ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 28 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:43,353,867...43,713,162
Ensembl chr19:43,360,342...43,712,365 		JBrowse link
G Ncf2 neutrophil cytosolic factor 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 ClinVar PMID:16937026 PMID:23821607 PMID:25741868 PMID:28492532 NCBI chr13:64,955,622...64,986,144
Ensembl chr13:64,955,503...64,986,277 		JBrowse link
G Vat1l vesicle amine transport 1-like ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 ClinVar NCBI chr19:42,194,511...42,363,835
Ensembl chr19:42,194,533...42,363,831 		JBrowse link
G Wwox WW domain-containing oxidoreductase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 28		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:11572989 PMID:16199547 PMID:17576681 PMID:20480411 More... NCBI chr19:42,432,141...43,360,278
Ensembl chr19:42,432,152...43,359,391 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      electroclinical syndrome 1357
        developmental and epileptic encephalopathy 982
          developmental and epileptic encephalopathy 28 5
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            epilepsy 2811
              electroclinical syndrome 1357
                neonatal period electroclinical syndrome 952
                  early infantile epileptic encephalopathy 931
                    developmental and epileptic encephalopathy 28 5
paths to the root