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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:30075207, 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 16103
    syndrome 6989
      SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          monogenic disease 5622
            autosomal genetic disease 4625
              autosomal dominant disease 2993
                complex cortical dysplasia with other brain malformations 741
                  Malformations of Cortical Development, Group I 595
                    Macrocephaly 84
                      SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.