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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
For additional species annotation, visit the Alliance of Genome Resources.



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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 ISO ClinVar Annotator: match by term: SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
OMIM
ClinVar
PMID:16199547 PMID:24781755 PMID:25558065 PMID:25741868 PMID:26463574 More... NCBI chr18:29,669,659...29,769,044
Ensembl chr18:29,669,659...29,769,172
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      Seizures, Cortical Blindness, and Microcephaly Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal dominant disease 4490
                complex cortical dysplasia with other brain malformations 1195
                  Malformations of Cortical Development, Group I 1054
                    microcephaly 897
                      Seizures, Cortical Blindness, and Microcephaly Syndrome 1
paths to the root