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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


Other Model Organisms: Alliance, 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)