Term Name: | Saethre-Chotzen syndrome |
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Synonyms: | acrocephalosyndactyly type III |
Definition: | An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull. |
Ontology: | Human Disease [DOID:14768] ( DOID:14768 ) |