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Summary Literature (0)
DOID:0070509 - Schinzel Giedion syndrome


Disease Ontology 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.

Synonyms: SGS, Schinzel-Giedion midface retraction syndrome,

Xenbase Genes : setbp1



Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), ectodermal dysplasia (is_a)