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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 73
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Accession:DOID:0112209 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by onset in the months of life of refractory seizures, profound developmental delay, failure to thrive, hypotonia, and are unable to walk, speak, or feed properly that has_material_basis_in heterozygous mutation in RNF13 on chromosome 3q25.1. (DO)
Synonyms:exact_synonym: DEE73;   EIEE73;   early infantile epileptic encephalopathy 73
 primary_id: OMIM:618379
For additional species annotation, visit the Alliance of Genome Resources.



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developmental and epileptic encephalopathy 73 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf13 ring finger protein 13 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 73
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 73
OMIM
ClinVar
PMID:30595371 NCBI chr 2:141,927,887...142,061,801
Ensembl chr 2:141,927,909...142,061,801
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17240
    syndrome 8140
      electroclinical syndrome 700
        developmental and epileptic encephalopathy 530
          developmental and epileptic encephalopathy 73 1
Path 2
Term Annotations click to browse term
  disease 17240
    disease of anatomical entity 16581
      nervous system disease 12115
        central nervous system disease 10393
          brain disease 9755
            epilepsy 2161
              electroclinical syndrome 700
                neonatal period electroclinical syndrome 537
                  early infantile epileptic encephalopathy 520
                    developmental and epileptic encephalopathy 73 1
paths to the root