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Disease Ontology Browser
Saethre-Chotzen syndrome (DOID:14768)
Alliance: disease page
Synonyms: acrocephalosyndactyly type III
Alt IDs: OMIM:101400, MESH:D000168, NCI:C75034, UMLS_CUI:C0175699
Definition: An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull.

Disease References using Mouse Models (7)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Send questions and comments to User Support. 		last database update
06/12/2018
MGI 6.12 		The Jackson Laboratory