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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 the RNF13 gene on chromosome 3q25.1. (DO)
Synonyms:exact_synonym: DEE73;   EIEE73;   early infantile epileptic encephalopathy 73
 primary_id: OMIM:618379


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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: Developmental and epileptic encephalopathy, 73 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30595371 NCBI chr 2:141,927,887...142,061,801
Ensembl chr 2:141,927,909...142,061,801 		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 73 1
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 73 1
paths to the root