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:Seizures, Cortical Blindness, and Microcephaly Syndrome
go back to main search page
Accession:DOID:9005489 term browser browse the term
Definition:A severe autosomal recessive neurodevelopmental disorder characterized by microcephaly, early-onset seizures, severely delayed psychomotor development, and cortical blindness. (OMIM)
Synonyms:exact_synonym: SCBMS;   seizures, cortical blindness, microcephaly syndrome
 primary_id: OMIM:616632

Please select species to view GViewer data.

show annotations for term's descendants           Sort by:
Seizures, Cortical Blindness, and Microcephaly Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Diaph1 diaphanous related formin 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome OMIM
ClinVar		 PMID:9360932 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22938506 More... NCBI chrNW_004624774:738,717...845,187
Ensembl chrNW_004624774:739,206...845,272 		JBrowse link
G G DIAPH1 diaphanous related formin 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome OMIM
ClinVar		 PMID:9360932 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22938506 More... NCBI chr23:44,139,495...44,244,505
Ensembl chr23:44,139,360...44,244,490 		JBrowse link
G P DIAPH1 diaphanous related formin 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome OMIM
ClinVar		 PMID:9360932 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22938506 More... NCBI chr 2:143,158,691...143,271,110
Ensembl chr 2:143,158,585...143,271,147 		JBrowse link
G S Diaph1 diaphanous related formin 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome OMIM
ClinVar		 PMID:9360932 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22938506 More... NCBI chrNW_004936504:12,548,452...12,645,236
Ensembl chrNW_004936504:12,548,452...12,643,399 		JBrowse link
G D DIAPH1 diaphanous related formin 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome OMIM
ClinVar		 PMID:9360932 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22938506 More... NCBI chr 2:36,483,781...36,581,390
Ensembl chr 2:36,485,571...36,581,320 		JBrowse link
G B DIAPH1 diaphanous related formin 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome OMIM
ClinVar		 PMID:9360932 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22938506 More... NCBI chr 5:136,876,396...136,980,097 JBrowse link
G C Diaph1 diaphanous related formin 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome OMIM
ClinVar		 PMID:9360932 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22938506 More... NCBI chrNW_004955415:12,156,152...12,272,961
Ensembl chrNW_004955415:12,156,152...12,272,961 		JBrowse link
G R Diaph1 diaphanous-related formin 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9360932 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22938506 More... NCBI chr18:29,669,659...29,769,070
Ensembl chr18:29,669,659...29,769,172 		JBrowse link
G M Diaph1 diaphanous related formin 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9360932 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22938506 More... NCBI chr18:37,976,654...38,068,573
Ensembl chr18:37,976,654...38,068,529 		JBrowse link
G H DIAPH1 diaphanous related formin 1 IAGP
EXP		 ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9360932 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22938506 More... NCBI chr 5:141,515,021...141,619,000
Ensembl chr 5:141,515,016...141,619,055 		JBrowse link
G H LOC129994866 ATAC-STARR-seq lymphoblastoid active region 23307 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar
G H LOC129994867 ATAC-STARR-seq lymphoblastoid active region 23308 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 175444
    syndrome 107879
      Seizures, Cortical Blindness, and Microcephaly Syndrome 12
Path 2
Term Annotations click to browse term
  disease 175444
    Developmental Disease 147715
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 135781
        genetic disease 131938
          monogenic disease 108575
            autosomal genetic disease 99976
              autosomal dominant disease 142914
                complex cortical dysplasia with other brain malformations 16326
                  Malformations of Cortical Development, Group I 14078
                    microcephaly 11577
                      Seizures, Cortical Blindness, and Microcephaly Syndrome 12
paths to the root