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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 87
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Accession:DOID:0112221 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by global developmental delay, severely impaired motor and cognitive development, hypotonia, and onset of frequent refractory seizures or infantile spasms between 6 and 15 months of age that has_material_basis_in heterozygous mutation in CDK19 on chromosome 6q21. (DO)
Synonyms:exact_synonym: DEE87;   EIEE87;   early infantile epileptic encephalopathy 87
 primary_id: OMIM:618916
For additional species annotation, visit the Alliance of Genome Resources.


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developmental and epileptic encephalopathy 87 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amd1 adenosylmethionine decarboxylase 1 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 87 ClinVar PMID:25741868 PMID:32330417 NCBI chr20:45,384,000...45,399,694
Ensembl chr20:45,384,000...45,399,694
JBrowse link
G Cdk19 cyclin-dependent kinase 19 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 87 OMIM
ClinVar
PMID:25741868 PMID:32330417 NCBI chr20:45,458,499...45,598,799
Ensembl chr20:45,458,558...45,598,798
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    syndrome 8018
      electroclinical syndrome 699
        developmental and epileptic encephalopathy 530
          developmental and epileptic encephalopathy 87 2
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      nervous system disease 12074
        central nervous system disease 10353
          brain disease 9712
            epilepsy 2151
              electroclinical syndrome 699
                neonatal period electroclinical syndrome 537
                  early infantile epileptic encephalopathy 520
                    developmental and epileptic encephalopathy 87 2
paths to the root