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ONTOLOGY REPORT - ANNOTATIONS


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;   RDO:9000412
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 JBrowse Chr Start Stop Reference
G Diaph1 diaphanous-related formin 1 JBrowse link 18 30,972,907 31,071,371 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15639
    syndrome 5218
      SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 15639
    Developmental Diseases 8774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7556
        genetic disease 7052
          monogenic disease 4684
            autosomal genetic disease 3642
              autosomal dominant disease 2153
                complex cortical dysplasia with other brain malformations 484
                  Malformations of Cortical Development, Group I 340
                    microcephaly 212
                      SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.