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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
 broad_synonym: PPP3CA-RELATED CONDITION
 primary_id: OMIM:617711


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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 OMIM
ClinVar		 PMID:8052858 PMID:8524402 PMID:9536098 PMID:17576681 PMID:25262651 More... NCBI chr 2:225,165,981...225,440,978
Ensembl chr 2:225,165,766...225,438,974 		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 91 1
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
                developmental and epileptic encephalopathy 982
                  developmental and epileptic encephalopathy 91 1
paths to the root