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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:Schinzel-Giedion Syndrome
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Accession:DOID:9001389 term browser browse the term
Synonyms:exact_synonym: SGS;   Schinzel Giedion midface-retraction syndrome
 broad_synonym: SETBP1-related disorder
 primary_id: MESH:C536632
 alt_id: OMIM:269150
 xref: NCI:C129308;   ORDO:798
For additional species annotation, visit the Alliance of Genome Resources.



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Schinzel-Giedion Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Setbp1 SET binding protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: SETBP1-Related Disorder | ClinVar Annotator: match by term: Schinzel-Giedion syndrome
OMIM
CTD
ClinVar
PMID:18398855 PMID:18414213 PMID:20436468 PMID:21037274 PMID:21371013 More... NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    syndrome 9802
      Schinzel-Giedion Syndrome 1
Path 2
Term Annotations click to browse term
  disease 18256
    disease of anatomical entity 17617
      nervous system disease 13267
        central nervous system disease 11414
          brain disease 10710
            disease of mental health 7594
              developmental disorder of mental health 4927
                specific developmental disorder 4191
                  intellectual disability 3995
                    Schinzel-Giedion Syndrome 1
paths to the root