Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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:SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS
go back to main search page
Accession:DOID:9006016 term browser browse the term
Definition:An autosomal recessive encephalopathy characterized by onset of refractory seizures in the first year of life. Affected individuals show significant and progressive developmental regression associated with seizure onset. Features include hypotonia, peripheral spasticity, poor eye contact, and absent speech. Brain imaging shows cerebral atrophy, loss of white matter, and punctate calcification.
Synonyms:exact_synonym: SENERAC;   early-onset seizures with neurodegeneration and brain calcifications
 primary_id: OMIM:618875
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nrros negative regulator of reactive oxygen species ISO ClinVar Annotator: match by term: SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS ClinVar
OMIM
PMID:32100099 PMID:32197075 NCBI chr11:71,872,728...71,889,897
Ensembl chr11:71,872,830...71,889,887
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        neurodegenerative disease 3216
          SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          brain disease 8372
            epilepsy 1485
              SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS 1
paths to the root