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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 47
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Accession:DOID:0080425 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of intractable seizures, developmental regression after seizure onset, intellectual disability, and neurologic impairment that has_material_basis_in heterozygous mutation in the FGF12 gene on chromosome 3q28. (DO)
Synonyms:exact_synonym: DEE47;   EIEE47;   early infantile epileptic encephalopathy 47
 primary_id: OMIM:617166
For additional species annotation, visit the Alliance of Genome Resources.


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developmental and epileptic encephalopathy 47 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf12 fibroblast growth factor 12 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 47 ClinVar
OMIM
PMID:25741868 PMID:27164707 PMID:27830185 PMID:27872899 PMID:28135719 PMID:28492532 PMID:28506426 PMID:28554332 PMID:28991257 PMID:29100083 PMID:29652076 PMID:29699863 NCBI chr11:75,606,360...76,171,078
Ensembl chr11:75,905,443...76,168,989
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    syndrome 8015
      electroclinical syndrome 698
        developmental and epileptic encephalopathy 529
          developmental and epileptic encephalopathy 47 1
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      nervous system disease 12073
        central nervous system disease 10352
          brain disease 9711
            epilepsy 2152
              electroclinical syndrome 698
                neonatal period electroclinical syndrome 537
                  early infantile epileptic encephalopathy 520
                    developmental and epileptic encephalopathy 47 1
paths to the root