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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 89
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Accession:DOID:0112223 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of seizures, profound global developmental delay with impaired intellectual development, absent speech, axial hypotonia, and spastic quadriparesis that has_material_basis_in homozygous or compound heterozygous mutation in the GAD1 gene on chromosome 2q31.1. (DO)
Synonyms:exact_synonym: DEE89;   early infantile epileptic encephalopathy 89
 primary_id: OMIM:619124

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developmental and epileptic encephalopathy 89 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gad1 glutamate decarboxylase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 89 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32282878 PMID:32705143 PMID:33146701 NCBI chrNW_004955449:3,964,006...4,001,850
Ensembl chrNW_004955449:3,963,705...4,001,850 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    syndrome 9329
      electroclinical syndrome 1237
        developmental and epileptic encephalopathy 892
          developmental and epileptic encephalopathy 89 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        central nervous system disease 10855
          brain disease 10186
            epilepsy 2595
              electroclinical syndrome 1237
                neonatal period electroclinical syndrome 868
                  early infantile epileptic encephalopathy 848
                    developmental and epileptic encephalopathy 89 1
paths to the root