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.
A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of infantile spasms and refractory seizures, global developmental delay, and impaired intellectual development that has_material_basis_in heterozygous mutation in the NTRK2 gene on chromosome 9q21. (DO)
Synonyms:
exact_synonym:
DEE58; EIEE58; early infantile epileptic encephalopathy 58
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 58 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 58 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 58 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 58 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 58 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 58 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 58 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 58 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 58 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 58 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58
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