Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Summary Literature (0)
DOID:14768 - Saethre-Chotzen syndrome


Disease Ontology Definition:An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull.

Synonyms: acrocephalosyndactyly type III

Xenbase Genes : twist1, fgfr2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0007042 - Saethre-Chotzen syndrome

OMIM:
OMIM:101400 - SAETHRE-CHOTZEN SYNDROME; SCS
OMIM:180750 - ROBINOW-SORAUF SYNDROME

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

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