Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  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:NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY
go back to main search page
Accession:DOID:9009012 term browser browse the term
Definition:An autosomal recessive disorder with highly variable manifestations and severity of these core features. The most severely affected individuals develop symptoms in utero, which may lead to spontaneous abortion or planned termination.
Synonyms:exact_synonym: NEDSEBA
 pimary_id: OMIM:619072
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Exoc7 exocyst complex component 7 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY ClinVar
OMIM
PMID:32103185 NCBI chr10:105,242,152...105,259,795
Ensembl chr10:105,242,152...105,259,795
Ensembl chr10:105,242,152...105,259,795
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    Developmental Disease 10589
      Neurodevelopmental Disorders 5572
        NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY 1
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        central nervous system disease 10208
          brain disease 9580
            disease of mental health 6937
              Neurodevelopmental Disorders 5572
                NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY 1
paths to the root