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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 37
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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.



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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