Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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 23
go back to main search page
Accession:DOID:0080415 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by onset in the first months of life of intractable seizures, severely impaired psychomotor development with poor or absent speech, cortical blindness, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK7 gene on chromosome 1p31. (DO)
Synonyms:exact_synonym: DEE23;   EIEE23;   early infantile epileptic encephalopathy 23;   early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome;   epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome
 primary_id: OMIM:615859
 xref: ORDO:411986


show annotations for term's descendants           Sort by:
developmental and epileptic encephalopathy 23 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALG6 ALG6 alpha-1,3-glucosyltransferase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 23 ClinVar PMID:28492532 NCBI chr 1:62,622,778...62,692,534
Ensembl chr 1:64,433,694...64,504,035 		JBrowse link
G ANGPTL3 angiopoietin like 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 23 ClinVar PMID:22247256 PMID:24814191 PMID:25741868 PMID:28492532 NCBI chr 1:61,855,870...61,863,476
Ensembl chr 1:63,670,516...63,679,194 		JBrowse link
G ATG4C autophagy related 4C cysteine peptidase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 23 ClinVar PMID:28492532 NCBI chr 1:62,041,948...62,123,866
Ensembl chr 1:63,856,511...63,937,514 		JBrowse link
G DOCK7 dedicator of cytokinesis 7 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 23 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22247256 PMID:24814191 More... NCBI chr 1:61,713,217...61,946,371
Ensembl chr 1:63,529,227...63,740,970 		JBrowse link
G FOXD3 forkhead box D3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 23 ClinVar PMID:28492532 NCBI chr 1:62,577,800...62,580,360 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    syndrome 10166
      electroclinical syndrome 1357
        developmental and epileptic encephalopathy 994
          developmental and epileptic encephalopathy 23 5
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        central nervous system disease 11923
          brain disease 11204
            epilepsy 2800
              electroclinical syndrome 1357
                neonatal period electroclinical syndrome 965
                  early infantile epileptic encephalopathy 945
                    developmental and epileptic encephalopathy 23 5
paths to the root