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ONTOLOGY REPORT - ANNOTATIONS


Term:SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME
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Accession:DOID:9009204 term browser browse the term
Synonyms:exact_synonym: SSMS
 primary_id: OMIM: 616682
For additional species annotation, visit the Alliance of Genome Resources.


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SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ext2 exostosin glycosyltransferase 2 JBrowse link 3 82,602,784 82,734,557 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15639
    syndrome 5218
      SEIZURES, SCOLIOSIS, AND MACROCEPHALY 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
                    Macrocephaly 53
                      SEIZURES, SCOLIOSIS, AND MACROCEPHALY 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.