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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 42
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Accession:DOID:0080454 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by onset of seizures in the first hours or days of life and global developmental delay with severely impaired intellectual development that has_material_basis_in heterozygous mutation in the CACNA1A gene on chromosome 19p13. (DO)
Synonyms:exact_synonym: DEE42;   EIEE42;   early infantile epileptic encephalopathy 42
 primary_id: OMIM:617106
 xref: NCI:C188142


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developmental and epileptic encephalopathy 42 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP
EXP		 ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8898206 PMID:9329229 PMID:9488686 PMID:9536098 PMID:9915947 More... NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,633,025 		JBrowse link
G LOC126862864 MED14-independent group 3 enhancer GRCh37_chr19:13371552-13372751 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42		 ClinVar PMID:22249839 PMID:25741868 PMID:26467025 PMID:27959697 PMID:28007337 More... NCBI chr19:13,260,738...13,261,937 JBrowse link
G LOC126862865 CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:13385818-13387017 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:13,275,004...13,276,203 JBrowse link
G LOC126862866 MED14-independent group 3 enhancer GRCh37_chr19:13445719-13446918 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42		 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:29915382 NCBI chr19:13,334,905...13,336,104 JBrowse link
G LOC130063717 ATAC-STARR-seq lymphoblastoid silent region 10203 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42		 ClinVar PMID:25741868 PMID:26423924 PMID:28492532 NCBI chr19:13,208,640...13,208,829 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    syndrome 18075
      electroclinical syndrome 1760
        developmental and epileptic encephalopathy 1316
          developmental and epileptic encephalopathy 42 5
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        central nervous system disease 23468
          brain disease 21902
            epilepsy 3685
              electroclinical syndrome 1760
                neonatal period electroclinical syndrome 1281
                  early infantile epileptic encephalopathy 1256
                    developmental and epileptic encephalopathy 42 5
paths to the root