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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
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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



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 DIAPH1 diaphanous related formin 1 IAGP
EXP
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
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 LOC129994866 ATAC-STARR-seq lymphoblastoid active region 23307 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar
G 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 40721
    syndrome 17731
      Seizures, Cortical Blindness, and Microcephaly Syndrome 3
Path 2
Term Annotations click to browse term
  disease 40721
    Developmental Disease 36027
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33169
        genetic disease 32751
          monogenic disease 18186
            autosomal genetic disease 16461
              autosomal dominant disease 10619
                complex cortical dysplasia with other brain malformations 2136
                  Malformations of Cortical Development, Group I 1829
                    microcephaly 1489
                      Seizures, Cortical Blindness, and Microcephaly Syndrome 3
paths to the root