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RGD uses the Human Disease Ontology (DO, 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 ClinVar Annotator: match by OMIM:269150
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Schinzel-Giedion syndrome
PMID:18398855 PMID:18414213 PMID:20436468 PMID:21037274 PMID:21371013 PMID:23222956 PMID:23832012 PMID:24033266 PMID:25028416 PMID:25217958 PMID:25663181 PMID:25741868 PMID:25852444 PMID:26467025 PMID:28346496 PMID:28492532 PMID:31680123 NCBI chr18:75,090,733...75,432,446
Ensembl chr18:75,095,632...75,207,306
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      Schinzel-Giedion Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          brain disease 8372
            disease of mental health 5980
              developmental disorder of mental health 3114
                specific developmental disorder 2316
                  intellectual disability 2163
                    Schinzel-Giedion Syndrome 1
paths to the root