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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 76
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Accession:DOID:0112212 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by early-onset, usually refractory, seizures, severely delayed global development, hypotonia, peripheral spasticity, and abnormalities on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in ACTL6B on chromosome 7q22.1. (DO)
Synonyms:exact_synonym: DECAM;   DEE76;   EIEE76;   developmental delay, epileptic encephalopathy, cerebral atrophy, and abnormal myelination;   developmental delay, epileptic endephalopathy, cerebral atrophy, and abnormal myelination;   early infantile epileptic encephalopathy 76
 primary_id: OMIM:618468
For additional species annotation, visit the Alliance of Genome Resources.


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developmental and epileptic encephalopathy 76 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actl6b actin-like 6B ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76 ClinVar
OMIM
PMID:25741868 PMID:26539891 PMID:30237576 PMID:30656450 PMID:31031012 NCBI chr12:22,194,595...22,211,107
Ensembl chr12:22,194,618...22,211,080
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    syndrome 7575
      electroclinical syndrome 655
        developmental and epileptic encephalopathy 493
          developmental and epileptic encephalopathy 76 1
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        central nervous system disease 10197
          brain disease 9570
            epilepsy 1878
              electroclinical syndrome 655
                neonatal period electroclinical syndrome 495
                  early infantile epileptic encephalopathy 486
                    developmental and epileptic encephalopathy 76 1
paths to the root