Saethre-Chotzen syndrome

Summary

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: twist1, fgfr2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0007042 - Saethre-Chotzen syndrome

MONDO:0007042 - Saethre-Chotzen syndrome

MIM:

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

MIM:101400 - SAETHRE-CHOTZEN SYNDROME; SCS

MIM:180750 - ROBINOW-SORAUF 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)