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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, 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ext2 exostosin glycosyltransferase 2 ISO ClinVar Annotator: match by term: Seizures, scoliosis, and macrocephaly syndrome ClinVar
OMIM
PMID:9326317 PMID:10713884 PMID:10750558 PMID:11432960 PMID:16283885 PMID:17041877 PMID:19344451 PMID:23439489 PMID:24728327 PMID:25741868 PMID:28492532 PMID:30288735 PMID:30997052 NCBI chr 3:82,602,784...82,734,557
Ensembl chr 3:82,602,785...82,734,533
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    syndrome 7053
      SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          monogenic disease 5725
            autosomal genetic disease 4875
              autosomal dominant disease 3160
                complex cortical dysplasia with other brain malformations 716
                  Malformations of Cortical Development, Group I 573
                    Macrocephaly 61
                      SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME 1
paths to the root