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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
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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 14759
    syndrome 4210
      SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        sensory system disease 4231
          eye and adnexa disease 1971
            eye disease 1971
              Vision Disorders 143
                blindness 82
                  cortical blindness 1
                    SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME 1
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