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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;   FGF12-RELATED CONDITION;   early infantile epileptic encephalopathy 47
 primary_id: OMIM:617166
 xref: NCI:C201514


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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 IAGP
EXP		 ClinVar Annotator: match by term: FGF12-related condition
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 47
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 47 | ClinVar Annotator: match by term: FGF12-related condition		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:27164707 PMID:27830185 More... NCBI chr 3:192,139,390...192,727,541
Ensembl chr 3:192,139,390...192,767,764 		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 47 1
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 47 1
paths to the root