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 QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) RatMine GViewer (Genome Viewer) Overgo Probe Designer VCMap
Aging & Age-Related Disease Cancer Cardiovascular Disease COVID-19 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 PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) 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 Poster 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 37
go back to main search page
Accession:DOID:0080435 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by onset of intractable seizures or abnormal movement in the first years of life and developmental delay or regression after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the FRRS1L gene (604574) on chromosome 9q31. (DO)
Synonyms:exact_synonym: DEE37;   EIEE37;   early infantile epileptic encephalopathy 37
 primary_id: OMIM:616981
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
developmental and epileptic encephalopathy 37 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abitram actin binding transcription modulator ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 37 ClinVar PMID:28492532 NCBI chr 5:71,505,853...71,524,224
Ensembl chr 5:71,505,813...71,511,890 		JBrowse link
G Ctnnal1 catenin alpha-like 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 37 ClinVar PMID:28492532 NCBI chr 5:71,514,340...71,569,431
Ensembl chr 5:71,514,340...71,569,431 		JBrowse link
G Elp1 elongator acetyltransferase complex subunit 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 37 ClinVar PMID:28492532 NCBI chr 5:71,453,338...71,505,833
Ensembl chr 5:71,456,310...71,505,762 		JBrowse link
G Frrs1l ferric-chelate reductase 1-like ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 37 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 More... NCBI chr 5:71,655,911...71,690,132
Ensembl chr 5:71,659,284...71,690,108 		JBrowse link
G Mir32 microRNA 32 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 37 ClinVar PMID:28492532 NCBI chr 5:71,596,083...71,596,152
Ensembl chr 5:71,596,083...71,596,152 		JBrowse link
G Tmem245 transmembrane protein 245 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 37 ClinVar PMID:28492532 NCBI chr 5:71,570,952...71,647,915
Ensembl chr 5:71,514,858...71,647,763 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    syndrome 9456
      electroclinical syndrome 924
        developmental and epileptic encephalopathy 737
          developmental and epileptic encephalopathy 37 6
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        central nervous system disease 11253
          brain disease 10538
            epilepsy 2579
              electroclinical syndrome 924
                neonatal period electroclinical syndrome 736
                  early infantile epileptic encephalopathy 716
                    developmental and epileptic encephalopathy 37 6
paths to the root