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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 49
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Accession:DOID:0080441 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by neonatal onset of seizures, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DENND5A gene on chromosome 11p15. (DO)
Synonyms:exact_synonym: DEE49;   EIEE49;   early infantile epileptic encephalopathy 49
 primary_id: OMIM:617281


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developmental and epileptic encephalopathy 49 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dennd5a DENN domain containing 5A ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 49
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:27431290 PMID:27866705 PMID:28492532 NCBI chr 1:163,928,183...163,994,207
Ensembl chr 1:163,928,183...163,994,316 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21112
    syndrome 10710
      electroclinical syndrome 1346
        developmental and epileptic encephalopathy 973
          developmental and epileptic encephalopathy 49 1
Path 2
Term Annotations click to browse term
  disease 21112
    disease of anatomical entity 18151
      nervous system disease 13991
        central nervous system disease 12338
          brain disease 11567
            epilepsy 2785
              electroclinical syndrome 1346
                neonatal period electroclinical syndrome 948
                  early infantile epileptic encephalopathy 927
                    developmental and epileptic encephalopathy 49 1
paths to the root