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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:0070509 term browser browse the term
Definition:An ectodermal dysplasia characterized by distinctive facial features, hydronephrosis, severe developmental delay, typical skeletal malformations, genital and cardiac anomalies, and increased tumor prevalence that has_material_basis_in heterozygous mutation in the SETBP1 gene on chromosome 18q12.3. (DO)
Synonyms:exact_synonym: SGS;   Schinzel Giedion midface-retraction syndrome;   Schinzel-Giedion Syndrome
 broad_synonym: SETBP1-RELATED CONDITION;   SETBP1-related disorder
 primary_id: MESH:C536632
 alt_id: DOID:9001389;   OMIM:269150
 xref: GARD:117;   NCI:C129308;   ORDO:798


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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 condition | 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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      ectodermal dysplasia 542
        Schinzel Giedion syndrome 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            disease of mental health 8321
              developmental disorder of mental health 5554
                specific developmental disorder 4518
                  intellectual disability 4300
                    Schinzel Giedion syndrome 1
paths to the root