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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: CACNA1A-RELATED COMPLEX NEURODEVELOPMENTAL DISORDER;   DEE42;   EIEE42;   early infantile epileptic encephalopathy 42
 primary_id: MIM: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 ISO ClinVar Annotator: match by term: CACNA1A-related complex neurodevelopmental disorder | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42 OMIM
ClinVar		 PMID:8898206 PMID:9329229 PMID:9488686 PMID:9536098 PMID:9915947 More... NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    syndrome 11270
      electroclinical syndrome 1510
        developmental and epileptic encephalopathy 1119
          developmental and epileptic encephalopathy 42 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14333
        central nervous system disease 12605
          brain disease 11834
            epilepsy 2995
              electroclinical syndrome 1510
                neonatal period electroclinical syndrome 1089
                  early infantile epileptic encephalopathy 1069
                    developmental and epileptic encephalopathy 42 1
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