Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
 primary_id: OMIM:619072


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 OMIM
ClinVar		 PMID:25741868 PMID:32103185 NCBI chr12:5,331,495...5,356,416
Ensembl chr12:5,328,326...5,356,961 		JBrowse link
G ZACN zinc activated ion channel ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and brain atrophy ClinVar NCBI chr12:5,355,171...5,360,169
Ensembl chr12:5,355,032...5,358,728 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15277
    Developmental Disease 13239
      Neurodevelopmental Disorders 6650
        NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY 2
Path 2
Term Annotations click to browse term
  disease 15277
    disease of anatomical entity 14911
      nervous system disease 12992
        central nervous system disease 11644
          brain disease 10936
            disease of mental health 7899
              Neurodevelopmental Disorders 6650
                NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY 2
paths to the root