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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 the CDK19 gene on chromosome 6q21. (DO)
Synonyms:exact_synonym: DEE87;   EIEE87;   early infantile epileptic encephalopathy 87
 primary_id: OMIM:618916


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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: Developmental and epileptic encephalopathy, 87 ClinVar PMID:25741868 PMID:32330417 PMID:33134521 PMID:33495529 PMID:33568421 NCBI chr20:43,695,783...43,711,476
Ensembl chr20:43,697,237...43,711,476 		JBrowse link
G Cdk19 cyclin-dependent kinase 19 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 87 OMIM
ClinVar		 PMID:25741868 PMID:32330417 PMID:33134521 PMID:33495529 PMID:33568421 NCBI chr20:43,770,409...43,910,629
Ensembl chr20:43,770,409...43,910,628 		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 87 2
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 87 2
paths to the root