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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 81
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Accession:DOID:0112217 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of severe refractory seizures, little developmental progress, cerebral atrophy, impaired myelination, thin corpus callosum, and progressive leukoencephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in DMXL2 on chromosome 15q21.2. (DO)
Synonyms:exact_synonym: DEE81;   EIEE81;   early infantile epileptic encephalopathy 81
 primary_id: OMIM:618663
For additional species annotation, visit the Alliance of Genome Resources.



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developmental and epileptic encephalopathy 81 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmxl2 Dmx-like 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 81 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 81 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:30237576 PMID:31688942 NCBI chr 8:54,741,164...54,884,948
Ensembl chr 8:54,741,160...54,885,161
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    syndrome 9705
      electroclinical syndrome 976
        developmental and epileptic encephalopathy 745
          developmental and epileptic encephalopathy 81 1
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      nervous system disease 13192
        central nervous system disease 11323
          brain disease 10618
            epilepsy 2644
              electroclinical syndrome 976
                neonatal period electroclinical syndrome 740
                  early infantile epileptic encephalopathy 720
                    developmental and epileptic encephalopathy 81 1
paths to the root