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Echinobase
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,

Echinobase Genes :


OMIM:
MIM:101400 - saethre-chotzen syndrome; scs

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)