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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 91
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Accession:DOID:0080472 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by onset of refractory multifocal seizures in the first weeks or years of life, delayed psychomotor development, poor or absent speech, and severe to profound intellectual disability that has_material_basis_in heterozygous mutation in the PPP3CA gene on chromosome 4q24. (DO)
Synonyms:exact_synonym: DEE91;   IECEE1;   infantile or early childhood epileptic encephalopathy 1
 primary_id: OMIM:617711
For additional species annotation, visit the Alliance of Genome Resources.



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developmental and epileptic encephalopathy 91 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp3ca protein phosphatase 3 catalytic subunit alpha ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1
ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood 1
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 91
ClinVar
OMIM
PMID:8052858 PMID:8524402 PMID:25262651 PMID:25741868 PMID:28942967 More... NCBI chr 2:225,165,981...225,440,978
Ensembl chr 2:225,165,766...225,438,974
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    syndrome 8170
      electroclinical syndrome 704
        developmental and epileptic encephalopathy 534
          developmental and epileptic encephalopathy 91 1
Path 2
Term Annotations click to browse term
  disease 17286
    disease of anatomical entity 16621
      nervous system disease 12148
        central nervous system disease 10417
          brain disease 9778
            epilepsy 2167
              Generalized Epilepsy 287
                idiopathic generalized epilepsy 161
                  childhood onset epileptic encephalopathy 23
                    developmental and epileptic encephalopathy 91 1
paths to the root