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Disease Ontology Browser
Saethre-Chotzen syndrome (DOID:14768)
Alliance: disease page
Synonyms: acrocephalosyndactyly type III
Alt IDs: OMIM:101400, OMIM:180750, MESH:D000168, NCI:C75034, ORDO:794, 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 Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
03/25/2025
MGI 6.24 		The Jackson Laboratory