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Schinzel Giedion syndrome
Summary
- Synonym
-
- SGS
- Schinzel-Giedion midface retraction syndrome
- 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.
- Super Class
- autosomal dominant disease ectodermal dysplasia
External Links
- Disease Ontology
- DOID:0070509
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9Y6X0 | SET-binding protein |
