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: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
 broad_synonym: DIAPH1-RELATED CONDITION
 primary_id: MIM:616632



show annotations for term's descendants           Sort by:

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    syndrome 11372
      Seizures, Cortical Blindness, and Microcephaly Syndrome 1
Path 2
Term Annotations click to browse term
  disease 19141
    Developmental Disease 14667
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13715
        genetic disease 13381
          monogenic disease 10935
            autosomal genetic disease 10425
              autosomal dominant disease 6779
                complex cortical dysplasia with other brain malformations 1641
                  Malformations of Cortical Development, Group I 1399
                    microcephaly 1146
                      Seizures, Cortical Blindness, and Microcephaly Syndrome 1
paths to the root