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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


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    syndrome 10062
      Seizures, Cortical Blindness, and Microcephaly Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17774
    Developmental Disease 17565
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17453
        genetic disease 17431
          monogenic disease 10125
            autosomal genetic disease 9332
              autosomal dominant disease 6137
                complex cortical dysplasia with other brain malformations 1587
                  Malformations of Cortical Development, Group I 1368
                    microcephaly 1121
                      Seizures, Cortical Blindness, and Microcephaly Syndrome 1
paths to the root